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
GALNT12	79695	broad.mit.edu	37	9	101608351	101608351	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:101608351C>T	ENST00000375011.3	+	9	1551	c.1551C>T	c.(1549-1551)atC>atT	p.I517I		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	517	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				ATACCCTTATCATGCATCTCT	0.483000													12	44					0	0	1	0	0
SPAG5	10615	broad.mit.edu	37	17	26925562	26925562	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:26925562G>A	ENST00000321765.5	-	2	475	c.143C>T	c.(142-144)tCg>tTg	p.S48L		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	48					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGGGTCAGCGAGGAGCAAGC	0.577000													7	68					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210543358	210543358	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:210543358G>A	ENST00000360351.4	+	5	831	c.325G>A	c.(325-327)Gaa>Aaa	p.E109K	MAP2_ENST00000199940.6_Missense_Mutation_p.E109K|MAP2_ENST00000447185.1_Missense_Mutation_p.E109K|MAP2_ENST00000361559.4_Missense_Mutation_p.E109K|MAP2_ENST00000392194.1_Missense_Mutation_p.E109K	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	109					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCTGAAAGGTGAACAAGAGAA	0.423000													4	18					0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57765878	57765878	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:57765878G>C	ENST00000535550.1	+	4	1788	c.1292G>C	c.(1291-1293)aGa>aCa	p.R431T	ZNF805_ENST00000354309.4_Missense_Mutation_p.R431T|ZNF805_ENST00000414468.2_Missense_Mutation_p.R564T	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	564					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						CATACTGGGAGAAATCCTATC	0.458000													5	25					0	0	1	0	0
COL9A1	1297	broad.mit.edu	37	6	71011755	71011755	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:71011755C>A	ENST00000357250.6	-	2	195	c.37G>T	c.(37-39)Gtg>Ttg	p.V13L	COL9A1_ENST00000370496.3_Missense_Mutation_p.V13L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	13					axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AAACTGCACACAAAGAAGAAA	0.433000													3	19					0.115264	0.116191	1	1	0
OR5B21	219968	broad.mit.edu	37	11	58274928	58274928	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:58274928G>A	ENST00000360374.2	-	1	650	c.651C>T	c.(649-651)ttC>ttT	p.F217F		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGATGCATATGAAGAAGTAAG	0.473000													12	21					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64505569	64505569	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:64505569G>T	ENST00000355086.3	+	17	2471	c.1947G>T	c.(1945-1947)atG>atT	p.M649I	SRGAP1_ENST00000543397.1_Missense_Mutation_p.M586I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.M626I|RP11-196H14.4_ENST00000535806.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	649	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATGAGAATATGATGGACCCTT	0.368000													10	18					3.07112e-06	3.27122e-06	1	1	0
FLRT2	23768	broad.mit.edu	37	14	86088175	86088175	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:86088175A>G	ENST00000330753.4	+	2	1084	c.317A>G	c.(316-318)aAc>aGc	p.N106S	FLRT2_ENST00000554746.1_Missense_Mutation_p.N106S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	106					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCCCATGAACCTTCCCAAG	0.468000													10	106					0	0	1	0	0
GOLGA3	2802	broad.mit.edu	37	12	133378355	133378355	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:133378355G>C	ENST00000204726.3	-	8	2356	c.1798C>G	c.(1798-1800)Cag>Gag	p.Q600E	GOLGA3_ENST00000456883.2_Missense_Mutation_p.Q600E|GOLGA3_ENST00000545875.1_Missense_Mutation_p.Q600E|GOLGA3_ENST00000450791.2_Missense_Mutation_p.Q600E|GOLGA3_ENST00000537452.1_Missense_Mutation_p.Q600E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	600	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGCCGTACCTGGATGTGGGCC	0.572000													9	173					0	0	1	0	0
SRP72	6731	broad.mit.edu	37	4	57350905	57350905	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr4:57350905G>A	ENST00000342756.5	+	10	1682	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	SRP72_ENST00000510663.1_Missense_Mutation_p.E260K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	321					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTTCTAGGCTGAACAATGCCG	0.413000													5	75					0	0	1	0	0
RPP38	10557	broad.mit.edu	37	10	15145329	15145329	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr10:15145329C>G	ENST00000378197.4	+	3	530	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	NMT2_ENST00000466201.1_5'UTR|RPP38_ENST00000378202.5_Missense_Mutation_p.Q6E|RPP38_ENST00000451677.1_Intron	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	6					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						TGCAGCTCCTCAAGCACCGGG	0.478000													9	86					0	0	1	0	0
SSTR3	6753	broad.mit.edu	37	22	37603331	37603331	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr22:37603331G>A	ENST00000328544.3	-	2	1045	c.512C>T	c.(511-513)tCa>tTa	p.S171L	SSTR3_ENST00000402501.1_Missense_Mutation_p.S171L	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	171					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CACCACGGCTGAGGCCACCCA	0.741000													6	30					0	0	1	0	0
AC005609.1	0	broad.mit.edu	37	5	140242692	140242692	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:140242692G>A	ENST00000502505.1	-	1	532	c.284C>T	c.(283-285)tCg>tTg	p.S95L	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron																							TACCCTGGACGAGGCGAAAGC	0.662000													7	22					0	0	1	0	0
MYO6	4646	broad.mit.edu	37	6	76558181	76558181	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:76558181C>T	ENST00000369981.3	+	11	1290	c.1011C>T	c.(1009-1011)ctC>ctT	p.L337L	MYO6_ENST00000369985.4_Silent_p.L337L|MYO6_ENST00000369977.3_Silent_p.L337L|MYO6_ENST00000369975.1_Silent_p.L337L			Q9UM54	MYO6_HUMAN	myosin VI	337	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGCTTGATCTCTTCCGGGTAG	0.383000													10	31					0	0	1	0	0
VAV2	7410	broad.mit.edu	37	9	136674200	136674200	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:136674200C>T	ENST00000371851.1	-	6	938	c.613G>A	c.(613-615)Gag>Aag	p.E205K	VAV2_ENST00000406606.3_Missense_Mutation_p.E205K|VAV2_ENST00000371850.3_Missense_Mutation_p.E210K			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	210	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TACTTGGCCTCGGTCTCCTGG	0.602000													4	46					0	0	1	0	0
SERPINB4	6318	broad.mit.edu	37	18	61305279	61305279	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr18:61305279G>A	ENST00000341074.5	-	8	962	c.847C>T	c.(847-849)Cac>Tac	p.H283Y	SERPINB4_ENST00000356424.6_Missense_Mutation_p.H231Y	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						CGAGGTAAGTGTAAATCGACA	0.413000													14	26					0	0	1	0	0
TMEM25	84866	broad.mit.edu	37	11	118403109	118403109	+	Silent	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:118403109C>A	ENST00000524725.1	+	2	727	c.315C>A	c.(313-315)ctC>ctA	p.L105L	TMEM25_ENST00000442938.2_Silent_p.L105L|TMEM25_ENST00000359862.4_Silent_p.L105L|TMEM25_ENST00000411589.2_Silent_p.L105L|TMEM25_ENST00000313236.5_Silent_p.L105L|TMEM25_ENST00000544878.1_Silent_p.L105L|TMEM25_ENST00000354064.7_Intron|TMEM25_ENST00000529001.1_3'UTR|TMEM25_ENST00000533102.1_Silent_p.L105L|TMEM25_ENST00000354284.4_Silent_p.L105L			Q86YD3	TMM25_HUMAN	transmembrane protein 25	105	Ig-like.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCATGAGCTCAACTGCTCTC	0.607000													22	49					2.44723e-14	2.74674e-14	1	1	0
GPR110	266977	broad.mit.edu	37	6	46977360	46977360	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:46977360A>G	ENST00000371253.2	-	11	2026	c.1811T>C	c.(1810-1812)cTg>cCg	p.L604P	GPR110_ENST00000283297.5_Missense_Mutation_p.L407P|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	604					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CTCGATGATCAGGCATAAAAT	0.433000													6	41					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79848581	79848581	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:79848581G>C	ENST00000331204.4	-	2	379	c.353C>G	c.(352-354)tCa>tGa	p.S118*	ALYREF_ENST00000505490.2_Nonsense_Mutation_p.S125*|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	118	Ala/Arg/Gly-rich.|RRM.				intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										ATCGGCGTCTGAGACTCCAAA	0.582000													14	120					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900171	202900171	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:202900171G>A	ENST00000286201.1	+	1	862	c.801G>A	c.(799-801)tcG>tcA	p.S267S		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	267					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.S267S(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GCTGCGCCTCGACGCTCTTTA	0.642000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	161					0	0	1	0	0
TRGC2	6967	broad.mit.edu	37	7	38289119	38289119	+	RNA	SNP	A	A	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:38289119A>T	ENST00000436911.2	-	0	54																											TGTTTCAGCAATCGAAGGAAG	0.353000													10	69					0	0	1	0	0
TMC8	147138	broad.mit.edu	37	17	76133860	76133860	+	Silent	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:76133860C>G	ENST00000318430.5	+	11	1688	c.1314C>G	c.(1312-1314)acC>acG	p.T438T	TMC8_ENST00000589691.1_Silent_p.T215T	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	438						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			TCCTCCTCACCGTGGCCTTCG	0.662000													16	103					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797147	92797147	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr13:92797147G>A	ENST00000377067.3	+	7	1838	c.1466G>A	c.(1465-1467)gGc>gAc	p.G489D		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	489						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGTGGTGGAGGCATGGTTGAA	0.468000													18	58					0	0	1	0	0
CENPJ	55835	broad.mit.edu	37	13	25479559	25479559	+	Silent	SNP	A	A	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr13:25479559A>G	ENST00000381884.4	-	7	2802	c.2617T>C	c.(2617-2619)Ttg>Ctg	p.L873L	CENPJ_ENST00000545981.1_Silent_p.L873L	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	873					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTGGTTTCAAAGAAGGAAAG	0.423000													20	21					0	0	1	0	0
NFKBIB	4793	broad.mit.edu	37	19	39395894	39395894	+	Missense_Mutation	SNP	T	T	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:39395894T>G	ENST00000392079.3	+	3	340	c.242T>G	c.(241-243)cTg>cGg	p.L81R	NFKBIB_ENST00000572515.1_Missense_Mutation_p.L113R|NFKBIB_ENST00000313582.5_Missense_Mutation_p.L113R			Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	113					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GTGGAGAAGCTGTACGCAGCA	0.692000													23	94					0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117204652	117204652	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:117204652C>T	ENST00000257575.4	+	6	894	c.661C>T	c.(661-663)Ctg>Ttg	p.L221L	RNFT2_ENST00000392549.2_Silent_p.L221L|RNFT2_ENST00000407967.3_Silent_p.L221L|RNFT2_ENST00000319176.7_Silent_p.L221L			Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	221						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		CTTGTGGATCCTGGCCTTTCT	0.512000													3	3					0	0	1	0	0
MROH2B	133558	broad.mit.edu	37	5	41000405	41000405	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:41000405C>G	ENST00000399564.4	-	39	4849	c.4399G>C	c.(4399-4401)Gag>Cag	p.E1467Q	MROH2B_ENST00000506092.2_Missense_Mutation_p.E1022Q	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		CCATAGAGCTCCTGGAGGCCC	0.488000													8	24					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577550	7577550	+	Missense_Mutation	SNP	C	C	T	rs28934572		TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:7577550C>T	ENST00000420246.2	-	7	863	c.731G>A	c.(730-732)gGc>gAc	p.G244D	TP53_ENST00000445888.2_Missense_Mutation_p.G244D|TP53_ENST00000359597.4_Missense_Mutation_p.G244D|TP53_ENST00000413465.2_Missense_Mutation_p.G244D|TP53_ENST00000269305.4_Missense_Mutation_p.G244D|TP53_ENST00000455263.2_Missense_Mutation_p.G244D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G244D(47)|p.G244V(14)|p.G244A(9)|p.0?(8)|p.?(5)|p.G151D(4)|p.G244fs*4(3)|p.G244_M246>V(3)|p.G244fs*19(1)|p.G151_M153>V(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.G244E(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTTCATGCCGCCCATGCAGGA	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			45	3					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023456	31023456	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:31023456G>C	ENST00000375687.4	+	13	3365	c.2941G>C	c.(2941-2943)Gaa>Caa	p.E981Q	ASXL1_ENST00000306058.5_Missense_Mutation_p.E976Q	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	981					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGTGGACATTGAAAAGCTGAA	0.522000			"""F, N, Mis"""		"""MDS, CMML"""								4	61					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116730169	116730169	+	Silent	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:116730169G>C	ENST00000375300.1	-	19	2438	c.2433C>G	c.(2431-2433)gtC>gtG	p.V811V	SIK3_ENST00000292055.4_Silent_p.V753V|SIK3_ENST00000446921.2_Silent_p.V811V|SIK3_ENST00000434315.2_Silent_p.V652V|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Silent_p.V148V|SIK3_ENST00000542607.1_Silent_p.V753V			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	753	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CAGGCTCTTGGACTTGGATGG	0.582000											OREG0003491	type=REGULATORY REGION|Gene=AK022302|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	20	43					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67023240	67023240	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:67023240C>A	ENST00000340001.4	-	15	2138	c.1927G>T	c.(1927-1929)Gaa>Taa	p.E643*	ABCA9_ENST00000370732.2_Nonsense_Mutation_p.E643*|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.E643*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	643	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCAGTCGGTTCATCCAATAGC	0.413000													4	36					0.00909568	0.00929341	1	1	0
SDHAP1	255812	broad.mit.edu	37	3	195711504	195711504	+	RNA	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:195711504G>C	ENST00000427841.1	-	0	443					NR_003264.2																						TCACGTAGTGGATGGCATCCT	0.592000													11	66					0	0	1	0	0
MEPE	56955	broad.mit.edu	37	4	88767147	88767147	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr4:88767147C>T	ENST00000497649.2	+	6	1433	c.1055C>T	c.(1054-1056)cCt>cTt	p.P352L	MEPE_ENST00000560249.1_Missense_Mutation_p.P263L|MEPE_ENST00000540395.1_Missense_Mutation_p.P263L|MEPE_ENST00000361056.3_Missense_Mutation_p.P376L|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.P376L|MEPE_ENST00000395102.4_Missense_Mutation_p.P407L			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	376					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CATTACCCTCCTGCACCCTCA	0.438000													32	11					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21546588	21546588	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:21546588C>T	ENST00000415912.2	-	19	2250	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	ECE1_ENST00000357071.4_Missense_Mutation_p.E713K|ECE1_ENST00000374893.6_Missense_Mutation_p.E725K|ECE1_ENST00000436918.2_Missense_Mutation_p.E693K|ECE1_ENST00000264205.6_Missense_Mutation_p.E722K	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	725					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		ATGAGGCCTTCGTGGGAGCTC	0.647000													11	57					0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133196544	133196544	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:133196544C>T	ENST00000388996.4	-	3	968	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	KCNQ3_ENST00000521134.1_Missense_Mutation_p.R63Q|KCNQ3_ENST00000519445.1_Missense_Mutation_p.R183Q	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	183					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCCTTTGTATCGGCAGCAACA	0.547000													19	97					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200971326	200971326	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:200971326G>A	ENST00000332129.2	-	9	1681	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	KIF21B_ENST00000461742.2_Silent_p.L455L|KIF21B_ENST00000360529.5_Silent_p.L455L|KIF21B_ENST00000422435.2_Silent_p.L455L	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	455					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						CCTGGCTCATGAGCTGGGTGA	0.627000													35	81					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74513344	74513344	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:74513344C>T	ENST00000373379.1	+	2	589	c.424C>T	c.(424-426)Cgt>Tgt	p.R142C	UPRT_ENST00000531704.1_3'UTR|UPRT_ENST00000530743.1_Missense_Mutation_p.R6C|UPRT_ENST00000373383.4_Missense_Mutation_p.R142C			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	142					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						TTCTGCGGATCGTTTGGTAGG	0.363000													19	4					0	0	1	0	0
TRIM10	10107	broad.mit.edu	37	6	30128255	30128255	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:30128255G>A	ENST00000449742.2	-	1	456	c.381C>T	c.(379-381)caC>caT	p.H127H	TRIM10_ENST00000376704.3_Silent_p.H127H	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	127						cytoplasm	zinc ion binding			ovary(1)	1						TGTGGGTAGCGTGCTCCCCAG	0.582000													89	58					0	0	1	0	0
MRPL41	64975	broad.mit.edu	37	9	140446764	140446764	+	Silent	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:140446764C>G	ENST00000371443.5	+	2	1019	c.231C>G	c.(229-231)ctC>ctG	p.L77L		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	77					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		TGAGCTACCTCGCCCCTGAGA	0.632000													3	29					0	0	1	0	0
TAC4	255061	broad.mit.edu	37	17	47918938	47918938	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:47918938G>C	ENST00000334568.4	-	3	225	c.226C>G	c.(226-228)Ctg>Gtg	p.L76V	TAC4_ENST00000398154.1_Intron|TAC4_ENST00000352793.2_Intron|TAC4_ENST00000326219.5_Missense_Mutation_p.L70V|TAC4_ENST00000436235.1_Missense_Mutation_p.L70V	NM_170685.2	NP_733786.2	Q86UU9	TKN4_HUMAN	tachykinin 4 (hemokinin)	76					regulation of blood pressure	extracellular region				breast(1)|large_intestine(1)|lung(3)	5						GGCTGGATCAGAGGTCTTCCT	0.537000													6	62					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74273774	74273774	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:74273774G>A	ENST00000409262.3	+	1	325	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	109							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						GCCAGGGCCTGAGGGCTGCTC	0.627000													45	41					0	0	1	0	0
SDHB	6390	broad.mit.edu	37	1	17355209	17355209	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:17355209C>T	ENST00000375499.3	-	4	459	c.309G>A	c.(307-309)atG>atA	p.M103I		NM_003000.2	NP_002991.2	P21912	DHSB_HUMAN	succinate dehydrogenase complex, subunit B, iron sulfur (Ip)	103	2Fe-2S ferredoxin-type.				respiratory electron transport chain|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	2 iron, 2 sulfur cluster binding|3 iron, 4 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|protein binding|succinate dehydrogenase (ubiquinone) activity|ubiquinone binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	10		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0049)|COAD - Colon adenocarcinoma(227;1.18e-05)|BRCA - Breast invasive adenocarcinoma(304;2.41e-05)|Kidney(64;0.000188)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)	Succinic acid(DB00139)	CATTGATGTTCATTGCACAAG	0.448000			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome				33	68					0	0	1	0	0
MTMR7	9108	broad.mit.edu	37	8	17169029	17169029	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:17169029C>T	ENST00000180173.5	-	9	1126	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	MTMR7_ENST00000521857.1_Silent_p.K364K|MTMR7_ENST00000398099.3_5'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	364	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CCATGAAGCCCTTCAGAGTCC	0.572000													8	144					0	0	1	0	0
HIF3A	64344	broad.mit.edu	37	19	46812516	46812516	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:46812516G>A	ENST00000339613.2	+	6	757	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Missense_Mutation_p.E173K|HIF3A_ENST00000244303.6_Missense_Mutation_p.E155K|HIF3A_ENST00000377670.4_Missense_Mutation_p.E224K|HIF3A_ENST00000300862.3_Missense_Mutation_p.E222K|HIF3A_ENST00000472815.1_Missense_Mutation_p.E155K|HIF3A_ENST00000600383.1_Missense_Mutation_p.E155K			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCTCATCTGCGAAGCCATCCC	0.647000													6	26					0	0	1	0	0
GLB1	2720	broad.mit.edu	37	3	33110330	33110330	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:33110330G>A	ENST00000307363.5	-	3	522	c.378C>T	c.(376-378)atC>atT	p.I126I	GLB1_ENST00000307377.8_Intron|GLB1_ENST00000399402.3_Silent_p.I96I|GLB1_ENST00000445488.2_Silent_p.I174I	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	126					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				ACTCTGCACAGATGTAGGGCC	0.547000													7	78					0	0	1	0	0
DUS2	54920	broad.mit.edu	37	16	68112712	68112712	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:68112712C>T	ENST00000565263.1	+	17	1799	c.1305C>T	c.(1303-1305)ggC>ggT	p.G435G	DUS2_ENST00000358896.6_Silent_p.G435G|DUS2_ENST00000432752.1_Silent_p.G400G|RP11-67A1.2_ENST00000548144.1_RNA	NM_017803.3	NP_060273.1			dihydrouridine synthase 2	435																	GGAGCCAGGGCCTCCCTGAGG	0.637000													11	25					0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8495727	8495727	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:8495727C>T	ENST00000602117.1	+	4	1013	c.558C>T	c.(556-558)ttC>ttT	p.F186F	MARCH2_ENST00000393944.1_Silent_p.F186F|MARCH2_ENST00000215555.2_Silent_p.F186F|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	186					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TCGCCCTCTTCACCATCTATG	0.657000													3	13					0	0	1	0	0
TMX4	56255	broad.mit.edu	37	20	7963212	7963212	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:7963212C>T	ENST00000246024.2	-	8	951	c.736G>A	c.(736-738)Gag>Aag	p.E246K		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	246	Glu-rich.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						tctttttcctcctcCGCATCC	0.428000													11	15					0	0	1	0	0
IKZF1	10320	broad.mit.edu	37	7	50468236	50468236	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:50468236G>C	ENST00000331340.3	+	8	1626	c.1471G>C	c.(1471-1473)Gag>Cag	p.E491Q	IKZF1_ENST00000343574.5_Missense_Mutation_p.E404Q|IKZF1_ENST00000438033.1_Missense_Mutation_p.E404Q|IKZF1_ENST00000346667.4_Missense_Mutation_p.E261Q|IKZF1_ENST00000439701.1_Missense_Mutation_p.E449Q|IKZF1_ENST00000349824.4_Missense_Mutation_p.E348Q|IKZF1_ENST00000359197.5_Missense_Mutation_p.E449Q|IKZF1_ENST00000357364.4_Missense_Mutation_p.E404Q|IKZF1_ENST00000440768.2_3'UTR	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	491					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TGATCCTTTTGAGTGCAACAT	0.582000			"""D,T"""	BCL6	"""ALL, DLBCL"""								9	44					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61417585	61417585	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:61417585C>G	ENST00000424789.2	+	10	1481	c.1477C>G	c.(1477-1479)Ctt>Gtt	p.L493V	TANC2_ENST00000389520.4_Missense_Mutation_p.L493V	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	493							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GGAGCAGCTTCTTCGGGAACC	0.547000													40	82					0	0	1	0	0
SCN4A	6329	broad.mit.edu	37	17	62019051	62019051	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:62019051C>T	ENST00000578147.1	-	24	4667	c.4591G>A	c.(4591-4593)Gag>Aag	p.E1531K	SCN4A_ENST00000435607.1_Missense_Mutation_p.E1531K			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1531					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GTGGTGATCTCGAACAGGCAG	0.587000													7	60					0	0	1	0	0
ATP8B3	148229	broad.mit.edu	37	19	1811700	1811700	+	Silent	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:1811700G>T	ENST00000539485.1	-	2	269	c.36C>A	c.(34-36)acC>acA	p.T12T	ATP8B3_ENST00000525591.1_Intron|ATP8B3_ENST00000526092.2_Intron|ATP8B3_ENST00000310127.6_Silent_p.T12T			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	12					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		GGCCAGCTCTGGTGCTCCTGG	0.657000													9	11					2.17888e-05	2.30777e-05	1	1	0
IFNA21	3452	broad.mit.edu	37	9	21166300	21166300	+	Silent	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:21166300G>C	ENST00000380225.1	-	1	359	c.312C>G	c.(310-312)ctC>ctG	p.L104L		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	104					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATTTTTCTAGGAGGCTCTGTT	0.498000													16	104					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638734	32638734	+	Silent	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr21:32638734G>C	ENST00000286827.3	-	5	1026	c.555C>G	c.(553-555)ctC>ctG	p.L185L	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Silent_p.L185L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	185					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCAGATCAGAGAGTGAGAATT	0.527000													12	150					0	0	1	0	0
SRSF7	6432	broad.mit.edu	37	2	38975749	38975749	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:38975749G>A	ENST00000313117.6	-	4	670	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	SRSF7_ENST00000446327.2_Missense_Mutation_p.R145C|SRSF7_ENST00000409276.1_Missense_Mutation_p.R145C	NM_001031684.2|NM_001195446.1	NP_001026854.1|NP_001182375.1	Q16629	SRSF7_HUMAN	serine/arginine-rich splicing factor 7	145	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTGCGTGAGCGAGAGTATCGC	0.398000													9	82					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197398624	197398624	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:197398624G>A	ENST00000367397.1	+	4	1723	c.865G>A	c.(865-867)Gac>Aac	p.D289N	CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Missense_Mutation_p.D884N|CRB1_ENST00000367399.2_Missense_Mutation_p.D796N|CRB1_ENST00000367400.3_Missense_Mutation_p.D908N|CRB1_ENST00000544212.1_Missense_Mutation_p.D389N			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	908	EGF-like 7; calcium-binding (Potential).		T -> M.		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						CCGGTGGGATGACTTCTCCTG	0.512000													88	34					0	0	1	0	0
STXBP5	134957	broad.mit.edu	37	6	147684703	147684703	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:147684703C>T	ENST00000367481.3	+	22	2778	c.2670C>T	c.(2668-2670)atC>atT	p.I890I	STXBP5_ENST00000179882.6_Silent_p.I581I|STXBP5_ENST00000367480.3_Silent_p.I873I|STXBP5_ENST00000321680.6_Silent_p.I926I	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	926					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		CAAAAGTAATCTCACTGCCAA	0.423000													6	16					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37853564	37853564	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:37853564C>T	ENST00000591471.1	+	9	1689	c.48C>T	c.(46-48)atC>atT	p.I16I	HKR1_ENST00000544914.1_Silent_p.I16I|HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Silent_p.I228I|HKR1_ENST00000392153.3_Silent_p.I270I|HKR1_ENST00000589392.1_Silent_p.I271I|HKR1_ENST00000324411.4_Silent_p.I289I			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	289					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAGTCCTCATCAAAAACCCAA	0.507000													16	32					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797148	92797148	+	Silent	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr13:92797148C>A	ENST00000377067.3	+	7	1839	c.1467C>A	c.(1465-1467)ggC>ggA	p.G489G		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	489						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGGTGGAGGCATGGTTGAAC	0.468000													18	57					6.94344e-10	7.67863e-10	1	1	0
EPHA8	2046	broad.mit.edu	37	1	22902778	22902778	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:22902778G>C	ENST00000166244.3	+	3	300	c.228G>C	c.(226-228)atG>atC	p.M76I	EPHA8_ENST00000374644.4_Missense_Mutation_p.M76I|EPHA8_ENST00000538803.1_Missense_Mutation_p.M76I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	76						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCAACGTCATGAGCCCCAACC	0.602000													19	98					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34943603	34943603	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:34943603G>C	ENST00000304718.4	+	13	2134	c.1818G>C	c.(1816-1818)caG>caC	p.Q606H		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	606					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATGTACCACAGTTTGCAGAAC	0.458000													18	154					0	0	1	0	0
ADAM8	101	broad.mit.edu	37	10	135076679	135076679	+	Missense_Mutation	SNP	C	C	A	rs77855326		TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr10:135076679C>A	ENST00000445355.3	-	23	2506	c.2456G>T	c.(2455-2457)gGa>gTa	p.G819V	ADAM8_ENST00000415217.3_3'UTR|ADAM8_ENST00000485491.2_Missense_Mutation_p.G728V	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	728					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)		TGTGGGAGCTCCGGCTCCTTG	0.572000													6	24					0.00116845	0.00121029	1	1	0
KIAA1109	84162	broad.mit.edu	37	4	123178471	123178471	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr4:123178471G>A	ENST00000264501.4	+	41	6813	c.6440G>A	c.(6439-6441)tGg>tAg	p.W2147*	KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.W2147*|KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.W2147*			Q2LD37	K1109_HUMAN	KIAA1109	2147					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCAAGGCAGTGGATGAAGTTT	0.408000													60	30					0	0	1	0	0
RPS4X	6191	broad.mit.edu	37	X	71495426	71495426	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:71495426C>T	ENST00000316084.6	-	3	334	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	RPS4X_ENST00000486733.1_5'UTR|RPS4X_ENST00000373626.3_Missense_Mutation_p.R77Q	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	77	S4 RNA-binding.				endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TATATCAGTTCGGACCTTGCC	0.423000													7	10					0	0	1	0	0
TARBP1	6894	broad.mit.edu	37	1	234546208	234546208	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:234546208G>C	ENST00000040877.1	-	23	3774	c.3775C>G	c.(3775-3777)Caa>Gaa	p.Q1259E		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1259					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGAATATTTTGAGTAATAATG	0.244000													3	22					0	0	1	0	0
CCDC62	84660	broad.mit.edu	37	12	123270332	123270332	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:123270332C>T	ENST00000253079.6	+	4	807	c.463C>T	c.(463-465)Cga>Tga	p.R155*	CCDC62_ENST00000392440.2_Intron|CCDC62_ENST00000537566.1_Intron|CCDC62_ENST00000392441.4_Nonsense_Mutation_p.R155*	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	155						cytoplasm|nucleus		p.R155R(2)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GCTACAAGCTCGAGAACAAGC	0.398000													8	55					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	120995412	120995412	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:120995412G>C	ENST00000325954.4	+	6	1355	c.894G>C	c.(892-894)aaG>aaC	p.K298N	RNF10_ENST00000413266.2_Missense_Mutation_p.K298N	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	298					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCTGATGAAGAGGGAGAAAG	0.448000													5	44					0	0	1	0	0
HNF1B	6928	broad.mit.edu	37	17	36104534	36104534	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:36104534G>A	ENST00000225893.4	-	1	703	c.342C>T	c.(340-342)ctC>ctT	p.L114L	HNF1B_ENST00000561193.1_Silent_p.L114L|HNF1B_ENST00000427275.2_Silent_p.L114L|HNF1B_ENST00000560016.1_Silent_p.L114L	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	114					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)			GCGCCTACCTGAGCATCCGGT	0.701000													14	128					0	0	1	0	0
SOX17	64321	broad.mit.edu	37	8	55372534	55372534	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:55372534C>T	ENST00000297316.4	+	2	1428	c.1224C>T	c.(1222-1224)taC>taT	p.Y408Y		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	408	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGGTATATTACTGCAACTATC	0.602000													43	28					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76451912	76451912	+	Silent	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:76451912G>T	ENST00000389840.5	-	63	10066	c.9942C>A	c.(9940-9942)gtC>gtA	p.V3314V	DNAH17_ENST00000585328.1_Silent_p.V3323V|DNAH17_ENST00000586052.1_Intron					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)			CTAATCCCCCGACCAGCCTAA	0.542000													14	25					9.16793e-09	1.005e-08	1	1	0
PRTG	283659	broad.mit.edu	37	15	56032682	56032682	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr15:56032682C>G	ENST00000389286.4	-	2	342	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	PRTG_ENST00000561292.1_Missense_Mutation_p.E99Q	NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	99	Ig-like 1.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CGCCTGCCTTCCACCTCACTG	0.413000													17	71					0	0	1	0	0
RASGRP1	10125	broad.mit.edu	37	15	38793449	38793449	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr15:38793449G>A	ENST00000310803.5	-	13	1755	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F	RASGRP1_ENST00000450598.2_Silent_p.F491F|RASGRP1_ENST00000559830.1_Silent_p.F491F|RASGRP1_ENST00000561180.1_Silent_p.F577F|RASGRP1_ENST00000539159.1_Silent_p.F478F|RASGRP1_ENST00000558164.1_Silent_p.F491F	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	526	EF-hand 2.				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGCTCTCATGAAGTAGGCTG	0.537000													4	34					0	0	1	0	0
SLC7A13	157724	broad.mit.edu	37	8	87242216	87242216	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:87242216G>A	ENST00000297524.3	-	1	394	c.291C>T	c.(289-291)ctC>ctT	p.L97L	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Silent_p.L97L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	97						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						AGGATGTCCAGAGATTCAAAA	0.478000													6	43					0	0	1	0	0
ARHGAP33	115703	broad.mit.edu	37	19	36271711	36271711	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:36271711G>A	ENST00000007510.4	+	10	966	c.822G>A	c.(820-822)ctG>ctA	p.L274L	ARHGAP33_ENST00000378944.5_Silent_p.L138L|ARHGAP33_ENST00000314737.5_Silent_p.L274L			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	274					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TCTCGTCTCTGACCTCAGGTA	0.607000													13	85					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150716448	150716448	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:150716448G>C	ENST00000605938.1	-	6	1052	c.977C>G	c.(976-978)tCg>tGg	p.S326W	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000377974.2_Missense_Mutation_p.S326W	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	326					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGGGAACCGAGCTCAGCTC	0.662000													4	22					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18276556	18276556	+	Missense_Mutation	SNP	C	C	A	rs150688709	byFrequency	TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr10:18276556C>A	ENST00000377369.2	+	7	1518	c.1245C>A	c.(1243-1245)gaC>gaA	p.D415E	SLC39A12_ENST00000377371.3_Missense_Mutation_p.D415E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.D281E|SLC39A12_ENST00000377374.4_Missense_Mutation_p.D415E	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	415					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TGTCTGGGGACGCTCTGCTCC	0.488000													29	143					2.4375e-19	2.74401e-19	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125843274	125843274	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:125843274C>G	ENST00000393434.2	-	16	2170	c.1821G>C	c.(1819-1821)ttG>ttC	p.L607F	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.L506F|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.L607F|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.L617F	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	607	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)	CTGCAAACTTCAAGGCTGTGA	0.577000													19	87					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112682	148112682	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:148112682G>A	ENST00000361727.3	+	24	4486	c.3970G>A	c.(3970-3972)Gaa>Aaa	p.E1324K	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.E383K|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1324					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)			GACCATTGATGAAAGCAAAAA	0.547000										HNSCC(39;0.1)			4	63					0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857275	9857275	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:9857275G>A	ENST00000396573.2	-	14	4435	c.4126C>T	c.(4126-4128)Cgc>Tgc	p.R1376C	GRIN2A_ENST00000330684.3_Missense_Mutation_p.R1376C|GRIN2A_ENST00000535259.1_Silent_p.N1104N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.R1376C|GRIN2A_ENST00000562109.1_Silent_p.N1261N|GRIN2A_ENST00000404927.2_Silent_p.N1261N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1376					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1376S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATAACCAAGCGTTGGTCATCC	0.562000													12	77					0	0	1	0	0
CD97	976	broad.mit.edu	37	19	14517987	14517987	+	Silent	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:14517987C>G	ENST00000242786.5	+	18	2402	c.2322C>G	c.(2320-2322)ctC>ctG	p.L774L	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.L725L|CD97_ENST00000358600.3_Silent_p.L681L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	774					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TTACCATCCTCAACTGCCTGC	0.607000													14	80					0	0	1	0	0
C12orf43	64897	broad.mit.edu	37	12	121454196	121454196	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:121454196C>G	ENST00000288757.3	-	1	104	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	C12orf43_ENST00000366211.2_5'UTR|C12orf43_ENST00000536407.2_Missense_Mutation_p.E28Q|C12orf43_ENST00000445832.3_5'UTR|C12orf43_ENST00000537817.1_5'UTR|C12orf43_ENST00000539736.1_Missense_Mutation_p.E28Q	NM_022895.1	NP_075046.1	Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	28								p.E28Q(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATTGCCGCCTCGCGGCACCGC	0.637000													12	55					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510251	77510251	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:77510251G>C	ENST00000477717.1	+	3	859	c.624G>C	c.(622-624)aaG>aaC	p.K208N		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	208					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						CTCGCCACAAGATGCTGCAGT	0.557000													31	142					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77378258	77378258	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:77378258C>G	ENST00000308488.6	-	16	4332	c.4030G>C	c.(4030-4032)Gaa>Caa	p.E1344Q	RSF1_ENST00000360355.2_Missense_Mutation_p.E1313Q|RSF1_ENST00000480887.1_Missense_Mutation_p.E1092Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1344					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TCATCACTTTCTATCCGGTAG	0.512000													13	84					0	0	1	0	0
NCOA4	8031	broad.mit.edu	37	10	51581337	51581337	+	Missense_Mutation	SNP	C	C	G	rs146770209		TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr10:51581337C>G	ENST00000452682.1	+	6	739	c.487C>G	c.(487-489)Ctg>Gtg	p.L163V	NCOA4_ENST00000344348.6_Missense_Mutation_p.L147V|NCOA4_ENST00000374087.4_Missense_Mutation_p.L147V|NCOA4_ENST00000430396.2_Missense_Mutation_p.L47V|NCOA4_ENST00000414907.2_5'UTR|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374082.1_Missense_Mutation_p.L147V|NCOA4_ENST00000443446.1_Missense_Mutation_p.L147V|NCOA4_ENST00000438493.1_Missense_Mutation_p.L163V	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	147					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CACAATTACTCTGCGCCAGAC	0.443000			T	RET	papillary thyroid								10	31					0	0	1	0	0
HIATL1	84641	broad.mit.edu	37	9	97218591	97218591	+	Silent	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:97218591C>G	ENST00000375344.3	+	10	1367	c.1098C>G	c.(1096-1098)gtC>gtG	p.V366V	HIATL1_ENST00000428393.2_Intron	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	366					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				GTGCCCTCGTCTCTCGGAATG	0.577000													11	89					0	0	1	0	0
HDAC3	8841	broad.mit.edu	37	5	141014416	141014416	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:141014416G>A	ENST00000305264.3	-	3	322	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	81	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	GACTCTTGGTGAAGCCTTGCA	0.512000													9	75					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272042	1272042	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:1272042G>A	ENST00000447027.1	+	31	13999	c.13941G>A	c.(13939-13941)ggG>ggA	p.G4647G	MUC5B_ENST00000529681.1_Silent_p.G4644G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4644	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)		ccatcccggggaccacccaca	0.627000													8	23					0	0	1	0	0
CEP170B	283638	broad.mit.edu	37	14	105353168	105353168	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:105353168C>T	ENST00000453495.1	+	12	2823	c.2595C>T	c.(2593-2595)ctC>ctT	p.L865L	CEP170B_ENST00000556508.1_Silent_p.L794L|CEP170B_ENST00000414716.3_Silent_p.L864L|CEP170B_ENST00000418279.1_Silent_p.L794L					centrosomal protein 170B																		CAGCCTTTCTCCGGCAAGAGA	0.652000													25	37					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70016573	70016573	+	RNA	SNP	G	G	A	rs3748384	by1000genomes	TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:70016573G>A	ENST00000531894.1	-	0	2361				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1																						TCCTGTCTACGGCGGTTGGAC	0.483000													3	18					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152652257	152652257	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:152652257C>A	ENST00000367255.5	-	78	14164	c.13563G>T	c.(13561-13563)atG>atT	p.M4521I	SYNE1_ENST00000423061.1_Missense_Mutation_p.M4450I|SYNE1_ENST00000265368.4_Missense_Mutation_p.M4521I|SYNE1_ENST00000448038.1_Missense_Mutation_p.M4450I|SYNE1_ENST00000341594.5_Intron	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4521					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)		TGACTTCCTTCATTAGTTCGC	0.463000										HNSCC(10;0.0054)			13	60					0.0167234	0.0169946	1	1	0
BTBD17	388419	broad.mit.edu	37	17	72356307	72356307	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:72356307C>T	ENST00000375366.3	-	2	289	c.163G>A	c.(163-165)Gag>Aag	p.E55K		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	55						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						CGCAGCAGCTCCTGCAAGCGC	0.672000													6	41					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22990182	22990182	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr15:22990182G>A	ENST00000313077.7	+	24	2927	c.2802G>A	c.(2800-2802)ctG>ctA	p.L934L	CYFIP1_ENST00000435939.2_Silent_p.L503L|CYFIP1_ENST00000560848.1_Silent_p.L934L	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	934					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)		AGGAGCTGCTGAAGGTCGTCA	0.582000													9	46					0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41397224	41397224	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:41397224G>C	ENST00000523277.2	+	5	492	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	GINS4_ENST00000276533.3_Missense_Mutation_p.E109Q|GINS4_ENST00000518671.1_Missense_Mutation_p.E109Q|RP11-360L9.4_ENST00000523081.1_RNA			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	109					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			TCATGTCCTTGAGAAGGAAAA	0.478000													5	25					0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237276839	237276839	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:237276839A>G	ENST00000409907.3	-	14	1941	c.1667T>C	c.(1666-1668)tTa>tCa	p.L556S	IQCA1_ENST00000431676.2_Missense_Mutation_p.L515S|IQCA1_ENST00000309507.5_Missense_Mutation_p.L553S|RP11-785G17.1_ENST00000605740.1_RNA	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	556							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTCTTTACCTAATGGCCAGAT	0.522000													4	4					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298193	36298193	+	Missense_Mutation	SNP	G	G	A	rs140376441		TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:36298193G>A	ENST00000437635.2	-	2	452	c.275C>T	c.(274-276)tCg>tTg	p.S92L		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	92										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						GGTGTCTTGCGAAGGCCTCTG	0.627000													37	135					0	0	1	0	0
FAXDC2	10826	broad.mit.edu	37	5	154214471	154214471	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:154214471C>T	ENST00000326080.5	-	3	495	c.72G>A	c.(70-72)atG>atA	p.M24I	FAXDC2_ENST00000518651.1_Start_Codon_SNP_p.M1I|FAXDC2_ENST00000517938.1_Start_Codon_SNP_p.M1I|FAXDC2_ENST00000523997.1_5'UTR|FAXDC2_ENST00000520968.1_Missense_Mutation_p.M24I	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		CTGTCCTCCTCATAGAGCCCC	0.587000													5	12					0	0	1	0	0
ZNF805	390980	broad.mit.edu	37	19	57765394	57765394	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:57765394G>A	ENST00000535550.1	+	4	1304	c.808G>A	c.(808-810)Gag>Aag	p.E270K	ZNF805_ENST00000354309.4_Missense_Mutation_p.E270K|ZNF805_ENST00000414468.2_Missense_Mutation_p.E403K	NM_001145078.1	NP_001138550.1	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						TGAGTGCCTCGAGTGTGGGAA	0.537000													7	37					0	0	1	0	0
EPHA10	284656	broad.mit.edu	37	1	38188817	38188817	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:38188817G>T	ENST00000373048.4	-	10	1855	c.1856C>A	c.(1855-1857)aCa>aAa	p.T619K	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Missense_Mutation_p.T114K|EPHA10_ENST00000330210.7_Missense_Mutation_p.T114K|EPHA10_ENST00000427468.2_Missense_Mutation_p.T619K	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	619						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)				GTCCAGGAATGTGCGACGTGT	0.592000													10	51					7.48243e-07	7.99259e-07	1	1	0
CEP152	22995	broad.mit.edu	37	15	49076266	49076266	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr15:49076266G>A	ENST00000380950.2	-	10	1412	c.1225C>T	c.(1225-1227)Caa>Taa	p.Q409*	CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q409*|RP11-485O10.2_ENST00000558304.1_RNA|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q316*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	409					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		ATTGCTTCTTGATTCCTTTCC	0.368000													3	18					0	0	1	0	0
USP11	8237	broad.mit.edu	37	X	47100681	47100681	+	Silent	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:47100681C>A	ENST00000377107.2	+	8	1206	c.852C>A	c.(850-852)ctC>ctA	p.L284L	USP11_ENST00000218348.3_Silent_p.L327L			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	327					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGCAGTGCCTCAGCAATGTGC	0.542000													5	33					0.184627	0.18512	1	1	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129543	99129543	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:99129543G>C	ENST00000394170.2	+	7	2442	c.2191G>C	c.(2191-2193)Gac>Cac	p.D731H	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.D731H|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.D731H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	731					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TTATAGCTCAGACCTCATTCA	0.398000													7	54					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155261666	155261666	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:155261666G>T	ENST00000392414.3	-	10	1519	c.1406C>A	c.(1405-1407)gCc>gAc	p.A469D	PKLR_ENST00000342741.4_Missense_Mutation_p.A500D	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	500					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGCAGCCTGGGCAGAGCGGGT	0.607000													12	114					2.27111e-07	2.46092e-07	1	1	0
SRRM2	23524	broad.mit.edu	37	16	2812362	2812362	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:2812362G>A	ENST00000301740.8	+	11	2382	c.1833G>A	c.(1831-1833)cgG>cgA	p.R611R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	611	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CACCAGCCCGGAGGGGCAGGT	0.622000													5	53					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145947382	145947382	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:145947382G>C	ENST00000292562.7	-	5	1938	c.1663C>G	c.(1663-1665)Ctg>Gtg	p.L555V	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GTCCAGCGCAGAATGAGATTT	0.488000													54	41					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11687744	11687744	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:11687744C>T	ENST00000262442.4	+	41	8017	c.7949C>T	c.(7948-7950)cCa>cTa	p.P2650L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P2650L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (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)		TCCATCCCCCCACTGATCGAT	0.532000													6	96					0	0	1	0	0
HNF1A	6927	broad.mit.edu	37	12	121416586	121416586	+	Silent	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:121416586G>C	ENST00000257555.6	+	1	241	c.15G>C	c.(13-15)ctG>ctC	p.L5L	HNF1A_ENST00000544413.1_Silent_p.L5L|HNF1A_ENST00000402929.1_Silent_p.L5L|HNF1A_ENST00000541395.1_Silent_p.L5L|HNF1A_ENST00000538626.1_Silent_p.L5L|HNF1A-AS1_ENST00000535301.1_RNA|HNF1A-AS1_ENST00000537361.1_RNA|HNF1A-AS1_ENST00000433033.2_RNA|HNF1A_ENST00000543427.1_Intron|HNF1A_ENST00000400024.2_Silent_p.L5L			P20823	HNF1A_HUMAN	HNF1 homeobox A	5	Dimerization.				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	p.?(1)		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)					TTTCTAAACTGAGCCAGCTGC	0.697000									Hepatic Adenoma, Familial Clustering of				9	58					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32036608	32036608	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:32036608C>T	ENST00000375244.3	-	16	6094	c.5893G>A	c.(5893-5895)Gcc>Acc	p.A1965T	TNXB_ENST00000375247.2_Missense_Mutation_p.A1965T			P22105	TENX_HUMAN	tenascin XB	2047	Fibronectin type-III 12.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTGTCAGGGCCTCGACATGG	0.572000													13	76					0	0	1	0	0
OGDHL	55753	broad.mit.edu	37	10	50959989	50959989	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr10:50959989G>A	ENST00000374103.4	-	6	718	c.633C>T	c.(631-633)ttC>ttT	p.F211F	OGDHL_ENST00000432695.1_Silent_p.F2F|OGDHL_ENST00000419399.1_Silent_p.F154F	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	211					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CATCGTTGATGAACATGAACT	0.602000													24	111					0	0	1	0	0
ATP5A1	498	broad.mit.edu	37	18	43664252	43664252	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr18:43664252G>C	ENST00000593152.2	-	12	2047	c.1508C>G	c.(1507-1509)gCt>gGt	p.A503G	ATP5A1_ENST00000590665.1_Missense_Mutation_p.A531G|ATP5A1_ENST00000282050.2_Missense_Mutation_p.A553G|ATP5A1_ENST00000398752.6_Missense_Mutation_p.A553G	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	553					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGGAGTTTAAGCTTCAAATCC	0.358000													7	6					0	0	1	0	0
FLAD1	80308	broad.mit.edu	37	1	154961196	154961196	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:154961196G>A	ENST00000368433.1	+	2	1331	c.988G>A	c.(988-990)Gag>Aag	p.E330K	FLAD1_ENST00000368431.3_Missense_Mutation_p.E231K|FLAD1_ENST00000405236.2_Missense_Mutation_p.E231K|FLAD1_ENST00000368428.1_5'UTR|FLAD1_ENST00000295530.2_Missense_Mutation_p.E63K|FLAD1_ENST00000315144.10_Missense_Mutation_p.E233K|FLAD1_ENST00000368432.1_Missense_Mutation_p.E233K|FLAD1_ENST00000292180.3_Missense_Mutation_p.E330K			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	330					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCTAGACTCAGAGGAAGAAGG	0.607000													72	20					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129776	99129776	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:99129776G>A	ENST00000394170.2	+	7	2675	c.2424G>A	c.(2422-2424)atG>atA	p.M808I	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.M808I|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.M808I	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	808					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AATGTGGAATGAATTTCAGCT	0.408000													5	26					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154307068	154307068	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:154307068C>T	ENST00000285873.7	-	7	1032	c.957G>A	c.(955-957)cgG>cgA	p.R319R		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	319					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGGTGTATTTCCGTCTCCAAG	0.378000													8	11					0	0	1	0	0
ORAI3	93129	broad.mit.edu	37	16	30964592	30964592	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:30964592G>A	ENST00000318663.4	+	2	539	c.315G>A	c.(313-315)ctG>ctA	p.L105L	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Silent_p.L105L	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	105						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CCACCGTGCTGGTGGCTGTGC	0.602000											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	75					0	0	1	0	0
C1QTNF5	114902	broad.mit.edu	37	11	119212452	119212452	+	Translation_Start_Site	SNP	A	A	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:119212452A>C	ENST00000445041.2	-	0	1705				MFRP_ENST00000449574.2_Missense_Mutation_p.F516V|MFRP_ENST00000530681.1_Missense_Mutation_p.F516V|MFRP_ENST00000555262.1_Missense_Mutation_p.F516V|MFRP_ENST00000360167.4_Missense_Mutation_p.F398V	NM_001278431.1|NM_015645.3|NM_031433.2	NP_001265360.1|NP_056460.1|NP_113621.1	Q9BY79	MFRP_HUMAN	C1q and tumor necrosis factor related protein 5						embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGCCTCCGGAAATGCTGGTAG	0.672000													5	33					0	0	1	0	0
SHE	126669	broad.mit.edu	37	1	154471609	154471609	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:154471609C>T	ENST00000304760.2	-	2	783	c.697G>A	c.(697-699)Gat>Aat	p.D233N		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	233										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGCTGTGCATCATATGGTTCC	0.428000													7	48					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17265170	17265170	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:17265170G>C	ENST00000595618.1	+	6	1296	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	CTD-3032J10.2_ENST00000599360.1_RNA|MYO9B_ENST00000594824.1_Missense_Mutation_p.E382Q|MYO9B_ENST00000397274.2_Missense_Mutation_p.E382Q|CTD-3032J10.2_ENST00000597216.1_RNA	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	382	Myosin head-like.				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						GCATGACTTTGAGAGGCTCAA	0.592000													5	61					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40710488	40710488	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:40710488G>A	ENST00000253055.3	+	3	1248	c.960G>A	c.(958-960)ctG>ctA	p.L320L	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	320	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGAATAAGCTGACGCTGCCCA	0.677000													11	58					0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	16893288	16893288	+	Silent	SNP	T	T	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr10:16893288T>A	ENST00000377833.4	-	60	9674	c.9609A>T	c.(9607-9609)acA>acT	p.T3203T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3203	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAGAGCAAATGTATTGAAGG	0.363000													10	24					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26411384	26411384	+	Silent	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr13:26411384C>G	ENST00000381655.2	+	29	2980	c.2838C>G	c.(2836-2838)ctC>ctG	p.L946L	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.L881L	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	906					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TTCCCCAGCTCTACAAAATCA	0.493000													16	64					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41515946	41515946	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:41515946C>T	ENST00000324071.4	+	6	877	c.870C>T	c.(868-870)ctC>ctT	p.L290L	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	290					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)	ACCTCAACCTCAACACGCTCT	0.572000													10	53					0	0	1	0	0
NOS2	4843	broad.mit.edu	37	17	26108095	26108095	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:26108095G>A	ENST00000313735.6	-	8	1064	c.831C>T	c.(829-831)atC>atT	p.I277I		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	277					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GGTCCCCTCTGATGCTGCCAT	0.632000													8	110					0	0	1	0	0
BMPER	168667	broad.mit.edu	37	7	34125678	34125678	+	Silent	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:34125678G>C	ENST00000297161.2	+	14	2093	c.1719G>C	c.(1717-1719)tcG>tcC	p.S573S	BMPER_ENST00000426693.1_Silent_p.S573S	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	573	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						CCTGCCACTCGACTGTGGACT	0.502000													22	56					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43803246	43803246	+	Silent	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr21:43803246C>A	ENST00000291532.3	-	8	1633	c.678G>T	c.(676-678)tcG>tcT	p.S226S	TMPRSS3_ENST00000380399.1_Silent_p.S310S|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.S226S|TMPRSS3_ENST00000398405.1_Silent_p.S224S|TMPRSS3_ENST00000398397.3_Silent_p.S226S	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	226	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						AGGGCCACTGCGAGAGCAAGG	0.597000													22	47					5.26018e-13	5.88639e-13	1	1	0
ASB15	142685	broad.mit.edu	37	7	123269344	123269344	+	Silent	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:123269344G>C	ENST00000451558.1	+	12	1817	c.1296G>C	c.(1294-1296)ctG>ctC	p.L432L	ASB15_ENST00000540573.1_Silent_p.L432L|ASB15_ENST00000451215.1_Silent_p.L432L|ASB15_ENST00000275699.3_Silent_p.L432L|ASB15_ENST00000434204.1_Silent_p.L432L			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	432					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AGGTAATGCTGAGGCTATTGC	0.413000													13	71					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45920551	45920551	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:45920551T>C	ENST00000311275.7	-	6	842	c.589A>G	c.(589-591)Aca>Gca	p.T197A	ZMYND8_ENST00000471951.2_Missense_Mutation_p.T217A|ZMYND8_ENST00000355972.4_Missense_Mutation_p.T197A|ZMYND8_ENST00000540497.1_Missense_Mutation_p.T192A|ZMYND8_ENST00000262975.4_Missense_Mutation_p.T197A|ZMYND8_ENST00000458360.2_Missense_Mutation_p.T192A|ZMYND8_ENST00000536340.1_Missense_Mutation_p.T224A|ZMYND8_ENST00000360911.3_Missense_Mutation_p.T192A|ZMYND8_ENST00000461685.1_Missense_Mutation_p.T217A|ZMYND8_ENST00000352431.2_Missense_Mutation_p.T217A|ZMYND8_ENST00000446994.2_Missense_Mutation_p.T134A|ZMYND8_ENST00000372023.3_Missense_Mutation_p.T192A|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.T197A	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	197	Bromo.						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)			TTTTCCAATGTACAAAGGTCC	0.463000													15	19					0	0	1	0	0
AZI1	22994	broad.mit.edu	37	17	79164775	79164775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:79164775C>A	ENST00000269392.4	-	23	3131	c.2884G>T	c.(2884-2886)Gag>Tag	p.E962*	AZI1_ENST00000450824.2_Nonsense_Mutation_p.E959*|AZI1_ENST00000575907.1_Nonsense_Mutation_p.E926*|AZI1_ENST00000374782.3_Nonsense_Mutation_p.E923*	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	962					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCTCGCCCTCGGCCTCCCCA	0.682000													5	91					0.000602214	0.000627237	1	1	0
DNAJC13	23317	broad.mit.edu	37	3	132241689	132241689	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:132241689G>T	ENST00000260818.6	+	49	5939	c.5691G>T	c.(5689-5691)atG>atT	p.M1897I		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1897							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTACGTTAATGAAATTTCTAC	0.333000													6	6					0.00116845	0.00121029	1	1	0
AGAP1	116987	broad.mit.edu	37	2	236653473	236653473	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:236653473G>A	ENST00000304032.8	+	5	1108	c.528G>A	c.(526-528)gtG>gtA	p.V176V	AGAP1_ENST00000409457.1_Silent_p.V176V|AGAP1_ENST00000428334.2_Silent_p.V15V|AGAP1_ENST00000409538.1_Silent_p.V441V|AGAP1_ENST00000336665.5_Silent_p.V176V	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				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						TGGTTCTGGTGGGAACCCAGG	0.423000													22	11					0	0	1	0	0
IMPDH1	3614	broad.mit.edu	37	7	128038489	128038489	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:128038489C>T	ENST00000338791.6	-	10	1403	c.1053G>A	c.(1051-1053)gcG>gcA	p.A351A	IMPDH1_ENST00000419067.2_Silent_p.A318A|IMPDH1_ENST00000354269.5_Silent_p.A341A|IMPDH1_ENST00000343214.4_Silent_p.A241A|IMPDH1_ENST00000378717.4_Silent_p.A282A|IMPDH1_ENST00000480861.1_Silent_p.A261A|IMPDH1_ENST00000348127.6_Silent_p.A315A|IMPDH1_ENST00000470772.1_Silent_p.A265A|IMPDH1_ENST00000496200.1_Silent_p.A241A	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	266					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CGTCGACGCCCGCCTGGGTGA	0.607000											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	49					0	0	1	0	0
NYNRIN	57523	broad.mit.edu	37	14	24877523	24877523	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:24877523C>T	ENST00000382554.3	+	3	965	c.647C>T	c.(646-648)tCc>tTc	p.S216F		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	216					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GACTCCCACTCCGATCCGGAG	0.632000													25	52					0	0	1	0	0
SLC35G3	146861	broad.mit.edu	37	17	33521251	33521251	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:33521251G>T	ENST00000297307.5	-	1	161	c.76C>A	c.(76-78)Cgc>Agc	p.R26S		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	26						integral to membrane											TGGTACCAGCGGAGGCTGGGT	0.657000													11	124					0.0135373	0.0137941	1	1	0
IFT172	26160	broad.mit.edu	37	2	27681039	27681039	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:27681039G>C	ENST00000260570.3	-	27	3032	c.2929C>G	c.(2929-2931)Cag>Gag	p.Q977E		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	977					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)					TCCTGGGCCTGAGTGATGTAT	0.552000													15	92					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793585	65793585	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:65793585C>T	ENST00000312106.5	-	1	403	c.266G>A	c.(265-267)aGa>aAa	p.R89K		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	89	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCCATGGGCTCTGCCGTGATT	0.602000													64	64					0	0	1	0	0
CASD1	64921	broad.mit.edu	37	7	94174871	94174871	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:94174871C>T	ENST00000297273.4	+	12	1778	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	497						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TATTTCGTCTCAATTTCCTGG	0.348000													9	14					0	0	1	0	0
XKR9	389668	broad.mit.edu	37	8	71619358	71619358	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:71619358C>G	ENST00000408926.3	+	4	997	c.463C>G	c.(463-465)Ctg>Gtg	p.L155V	XKR9_ENST00000520273.1_3'UTR|XKR9_ENST00000520030.1_Missense_Mutation_p.L155V	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	155						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTACATTCTTCTGGAGCATGG	0.388000													4	37					0	0	1	0	0
PLEKHG4B	153478	broad.mit.edu	37	5	161988	161988	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:161988G>A	ENST00000283426.6	+	10	1560	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	504					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGAGCGCCGTGGTCAGCCA	0.617000													14	64					0	0	1	0	0
IGKV5-2	28907	broad.mit.edu	37	2	89197299	89197299	+	RNA	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:89197299C>T	ENST00000390244.2	+	0	407																											GATAATTTCCCTCTCACAGTG	0.438000													20	3					0	0	1	0	0
LMTK3	114783	broad.mit.edu	37	19	49000815	49000815	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:49000815C>G	ENST00000600059.1	-	11	3738	c.3511G>C	c.(3511-3513)Gag>Cag	p.E1171Q	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1200Q					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)		GGGGCCACCTCCGGCCTGGCT	0.761000													3	13					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141325351	141325351	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:141325351C>T	ENST00000231484.3	-	4	4360	c.3150G>A	c.(3148-3150)ctG>ctA	p.L1050L		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1050					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGGCGCTCAGCCGGTCCA	0.677000													20	32					0	0	1	0	0
COG4	25839	broad.mit.edu	37	16	70546183	70546183	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:70546183C>T	ENST00000323786.5	-	5	718	c.697G>A	c.(697-699)Gag>Aag	p.E233K	COG4_ENST00000393612.4_Missense_Mutation_p.E229K|COG4_ENST00000564653.1_Missense_Mutation_p.M190I	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	229					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				AATCCCTCCTCATGCAAACCC	0.522000													12	19					0	0	1	0	0
RAB6C	84084	broad.mit.edu	37	2	130738076	130738076	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:130738076C>T	ENST00000410061.2	+	1	842	c.388C>T	c.(388-390)Ctt>Ttt	p.L130F		NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	130					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TAGAACAGATCTTGCTGACAA	0.408000													6	99					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184814	19184814	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:19184814C>T	ENST00000275461.3	-	1	230	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	58					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						tccccctcttcAAACCGCGCC	0.652000													10	49					0	0	1	0	0
HCFC2	29915	broad.mit.edu	37	12	104459993	104459993	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:104459993G>T	ENST00000229330.4	+	2	316	c.212G>T	c.(211-213)gGc>gTc	p.G71V		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	71					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						ATCCCTCCAGGCTGTGCTGCC	0.393000													5	37					1.23904e-05	1.31604e-05	1	1	0
ST8SIA6	338596	broad.mit.edu	37	10	17362910	17362910	+	Silent	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr10:17362910G>C	ENST00000377602.4	-	8	1238	c.1164C>G	c.(1162-1164)ctC>ctG	p.L388L		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	388					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						ATTGCAGTTTGAGGATTCCTT	0.363000													21	82					0	0	1	0	0
UQCC2	84300	broad.mit.edu	37	6	33668284	33668284	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:33668284G>A	ENST00000607484.1	-	3	260	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	UQCC2_ENST00000374214.3_Missense_Mutation_p.R49C	NM_032340.3	NP_115716.1			ubiquinol-cytochrome c reductase complex assembly factor 2	74																	TCTCTGGGGCGAGGGTACTGG	0.552000											OREG0017352	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	141	163					0	0	1	0	0
METTL8	79828	broad.mit.edu	37	2	172216968	172216968	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:172216968C>G	ENST00000375258.4	-	3	414	c.199G>C	c.(199-201)Gaa>Caa	p.E67Q		NM_024770.3	NP_079046.2	B3KW44	B3KW44_HUMAN	methyltransferase like 8								methyltransferase activity	p.E67Q(2)|p.E17Q(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	11						GCTGAGTTTTCTTTTACTTTT	0.418000													11	9					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153056616	153056616	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:153056616G>A	ENST00000285900.5	+	7	1267	c.924G>A	c.(922-924)cgG>cgA	p.R308R	GRIA1_ENST00000448073.4_Silent_p.R318R|GRIA1_ENST00000340592.5_Silent_p.R308R|GRIA1_ENST00000521843.2_Silent_p.R239R|GRIA1_ENST00000518783.1_Silent_p.R318R|GRIA1_ENST00000518142.1_Silent_p.R228R	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	308					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGAGCCTGCGGAGGCAGAGAA	0.557000													6	39					0	0	1	0	0
RBM10	8241	broad.mit.edu	37	X	47028824	47028824	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:47028824C>A	ENST00000377604.3	+	3	870	c.128C>A	c.(127-129)tCa>tAa	p.S43*	RBM10_ENST00000329236.7_Nonsense_Mutation_p.S43*|RBM10_ENST00000345781.6_Nonsense_Mutation_p.S43*	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	43					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GACTACCGTTCATATCCTCGC	0.632000													22	1					2.21704e-12	2.47361e-12	1	1	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129156	99129156	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:99129156G>T	ENST00000394170.2	+	7	2055	c.1804G>T	c.(1804-1806)Gag>Tag	p.E602*	ZKSCAN5_ENST00000451158.1_Nonsense_Mutation_p.E602*|ZKSCAN5_ENST00000326775.5_Nonsense_Mutation_p.E602*	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	602					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCACACAGGTGAGAAGCCCTA	0.532000													7	37					0.00198382	0.00203802	1	1	0
HRH4	59340	broad.mit.edu	37	18	22056994	22056994	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr18:22056994C>T	ENST00000256906.4	+	3	741	c.641C>T	c.(640-642)cCt>cTt	p.P214L	HRH4_ENST00000426880.2_Missense_Mutation_p.P126L	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	214						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CAAAGCCATCCTGGACTGACT	0.453000													4	62					0	0	1	0	0
TYMS	7298	broad.mit.edu	37	18	672911	672911	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr18:672911G>C	ENST00000323274.10	+	7	995	c.856G>C	c.(856-858)Gag>Cag	p.E286Q	TYMS_ENST00000323250.5_Missense_Mutation_p.E203Q|ENOSF1_ENST00000383578.3_3'UTR|ENOSF1_ENST00000319815.6_3'UTR|TYMS_ENST00000323224.7_Missense_Mutation_p.E252Q|TYMS_ENST00000581920.1_3'UTR	NM_001071.2	NP_001062.1	P04818	TYSY_HUMAN	thymidylate synthetase	286					DNA repair|DNA replication|phosphatidylinositol-mediated signaling|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to organophosphorus	cytosol	thymidylate synthase activity			endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(2)	8					Capecitabine(DB01101)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Leucovorin(DB00650)|Pemetrexed(DB00642)|Raltitrexed(DB00293)|Trifluridine(DB00432)	TCGAAAAGTTGAGAAAATTGA	0.393000													12	39					0	0	1	0	0
KIAA1324	57535	broad.mit.edu	37	1	109730885	109730885	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:109730885G>A	ENST00000369939.3	+	9	1311	c.1128G>A	c.(1126-1128)aaG>aaA	p.K376K	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.K289K	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	376					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CTGGTGTGAAGACCCACTGCC	0.547000													14	74					0	0	1	0	0
UHRF1	29128	broad.mit.edu	37	19	4954700	4954700	+	RNA	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:4954700C>T	ENST00000592666.1	+	0	2572							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CGCCGGACATCCAAGAAAACC	0.672000													6	28					0	0	1	0	0
ASPSCR1	79058	broad.mit.edu	37	17	79970159	79970159	+	Splice_Site	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:79970159G>A	ENST00000306729.7	+	12	1450	c.1353G>A	c.(1351-1353)caG>caA	p.Q451Q	ASPSCR1_ENST00000306739.4_Splice_Site_p.Q451Q|ASPSCR1_ENST00000580534.1_Splice_Site_p.Q399Q	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	451	UBX.						protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	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)			CCCTCTTTCAGGTACCTGAGG	0.667000			T	TFE3	alveolar soft part sarcoma								28	58					0	0	1	0	0
CCNF	899	broad.mit.edu	37	16	2489766	2489766	+	Missense_Mutation	SNP	G	G	A	rs147234069	byFrequency	TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:2489766G>A	ENST00000397066.4	+	8	804	c.716G>A	c.(715-717)cGa>cAa	p.R239Q		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	239					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GATCCTGGGCGATGCCTCCAC	0.592000													3	23					0	0	1	0	0
MRGPRE	116534	broad.mit.edu	37	11	3249723	3249723	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:3249723G>A	ENST00000389832.5	-	2	613	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	AC109309.4_ENST00000418995.2_RNA|MRGPRE_ENST00000436689.2_Missense_Mutation_p.R102C			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	102						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)		CAGAAGAAGCGCAGCGTTGCC	0.667000													24	13					0	0	1	0	0
AIF1L	83543	broad.mit.edu	37	9	133993210	133993210	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:133993210G>A	ENST00000372309.3	+	6	502	c.348G>A	c.(346-348)aaG>aaA	p.K116K	AIF1L_ENST00000247291.3_Silent_p.K90K|AIF1L_ENST00000372297.2_Silent_p.K34K|AIF1L_ENST00000372298.1_Silent_p.K90K|AIF1L_ENST00000372302.1_Silent_p.K82K|AIF1L_ENST00000372301.2_Silent_p.K34K|AIF1L_ENST00000372300.1_Silent_p.K90K|AIF1L_ENST00000372312.3_Silent_p.K95K	NM_001185095.1	NP_001172024.1	Q9BQI0	AIF1L_HUMAN	allograft inflammatory factor 1-like	90	EF-hand 2; degenerate.					actin cytoskeleton|cytoplasm|focal adhesion|ruffle membrane	actin filament binding|calcium ion binding			lung(2)	2						AGATGAAGAAGATGATCTCAG	0.507000													5	39					0	0	1	0	0
STAC	6769	broad.mit.edu	37	3	36547283	36547283	+	Silent	SNP	T	T	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:36547283T>C	ENST00000273183.3	+	8	1177	c.877T>C	c.(877-879)Ttg>Ctg	p.L293L	STAC_ENST00000457375.2_Silent_p.L232L	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	293	SH3.				intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						CTATGTTGCCTTGTACAAATT	0.313000													5	4					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756392	49756392	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:49756392G>A	ENST00000535833.1	-	10	3957	c.507C>T	c.(505-507)ctC>ctT	p.L169L	AMIGO3_ENST00000320431.7_Silent_p.L169L|RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_Intron|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	169					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)		AGAACGAGGCGAGTTCGTTGC	0.607000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	115					0	0	1	0	0
OR1L3	26735	broad.mit.edu	37	9	125437730	125437730	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:125437730G>A	ENST00000304820.2	+	1	416	c.322G>A	c.(322-324)Gga>Aga	p.G108R		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	108					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						CCTGGTTTTTGGAAACATAGA	0.428000													18	67					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60883174	60883174	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:60883174G>C	ENST00000253003.2	+	8	1000	c.954G>C	c.(952-954)gaG>gaC	p.E318D	LAMA5_ENST00000492698.1_5'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	318					proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			CATCTGGGGAGTCGCTGCCGC	0.642000													5	21					0	0	1	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567513	99567513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:99567513G>A	ENST00000331335.5	-	5	3477	c.3007C>T	c.(3007-3009)Cag>Tag	p.Q1003*	CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000354552.3_Nonsense_Mutation_p.Q1003*|FILIP1L_ENST00000471562.1_Nonsense_Mutation_p.Q763*|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000383694.2_Nonsense_Mutation_p.Q763*|FILIP1L_ENST00000487087.1_Nonsense_Mutation_p.Q579*	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	1003						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						GCCAAAACCTGAATAGGGGAC	0.517000													15	92					0	0	1	0	0
TRPV1	7442	broad.mit.edu	37	17	3495468	3495468	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:3495468G>A	ENST00000174621.6	-	2	390	c.101C>T	c.(100-102)tCc>tTc	p.S34F	TRPV1_ENST00000571088.1_Silent_p.F59F|SHPK_ENST00000572705.1_Silent_p.F59F|TRPV1_ENST00000399759.3_Silent_p.F59F|TRPV1_ENST00000310522.5_Silent_p.F59F|TRPV1_ENST00000576351.1_Silent_p.F59F|TRPV1_ENST00000399756.4_Silent_p.F59F|TRPV1_ENST00000425167.2_Silent_p.F59F			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	0					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)	AATCCACCGGGAAAGCCTCCT	0.642000													3	20					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	67023135	67023135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:67023135C>A	ENST00000340001.4	-	15	2243	c.2032G>T	c.(2032-2034)Gag>Tag	p.E678*	ABCA9_ENST00000370732.2_Nonsense_Mutation_p.E678*|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.E678*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	678	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGTCAGCCTCATCTATAAAC	0.433000													7	37					0.00198382	0.00203802	1	1	0
GPR37L1	9283	broad.mit.edu	37	1	202097095	202097095	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:202097095G>A	ENST00000367282.5	+	2	963	c.857G>A	c.(856-858)tGc>tAc	p.C286Y		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CTGGACTCATGCATCATGAAA	0.612000													59	19					0	0	1	0	0
IRX2	153572	broad.mit.edu	37	5	2749764	2749764	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:2749764G>A	ENST00000382611.6	-	2	635	c.387C>T	c.(385-387)ctC>ctT	p.L129L	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.L129L	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	129						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GCCAGGCCTTGAGAGTGGCCG	0.642000													21	129					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120260720	120260720	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:120260720G>C	ENST00000392521.2	-	9	1070	c.1015C>G	c.(1015-1017)Caa>Gaa	p.Q339E	CIT_ENST00000261833.7_Missense_Mutation_p.Q339E	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	339	Protein kinase.				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)		AACAAGCTTTGAATCAGATCA	0.383000													3	23					0	0	1	0	0
MED1	5469	broad.mit.edu	37	17	37576007	37576007	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:37576007G>A	ENST00000300651.6	-	14	1483	c.1260C>T	c.(1258-1260)ctC>ctT	p.L420L	MED1_ENST00000394287.3_Silent_p.L420L	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	420	Interaction with ESR1.|Interaction with THRA.|Interaction with the Mediator complex and THRA.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGCTTCCAATGAGGGTGTTAT	0.433000										HNSCC(31;0.082)			9	133					0	0	1	0	0
ARVCF	421	broad.mit.edu	37	22	19961659	19961659	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr22:19961659C>T	ENST00000263207.3	-	12	2355	c.2064G>A	c.(2062-2064)caG>caA	p.Q688Q	ARVCF_ENST00000406259.1_Silent_p.Q682Q|ARVCF_ENST00000344269.3_Silent_p.Q625Q|ARVCF_ENST00000401994.1_Silent_p.Q625Q|ARVCF_ENST00000406522.1_Silent_p.Q619Q	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	688					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					CACTGAGGTTCTGCAGAGCGC	0.642000													7	60					0	0	1	0	0
KLHL12	59349	broad.mit.edu	37	1	202878183	202878183	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:202878183C>T	ENST00000367261.3	-	6	1005	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	KLHL12_ENST00000435533.3_Missense_Mutation_p.E301K|KLHL12_ENST00000367259.1_5'UTR	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	263					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CTCCGAAGTTCAGGCCTCAGA	0.493000													12	111					0	0	1	0	0
NUP214	8021	broad.mit.edu	37	9	134021689	134021689	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:134021689C>A	ENST00000359428.5	+	13	2087	c.1943C>A	c.(1942-1944)tCa>tAa	p.S648*	RP11-544A12.4_ENST00000588378.1_RNA|RP11-544A12.4_ENST00000589667.1_RNA|NUP214_ENST00000411637.2_Nonsense_Mutation_p.S637*|NUP214_ENST00000451030.1_Nonsense_Mutation_p.S648*|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|RP11-544A12.4_ENST00000415391.2_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	648	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		CCCTCACCATCAGGTATGATT	0.498000			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""								88	110					1.86864e-30	2.1163e-30	1	1	0
ETV6	2120	broad.mit.edu	37	12	12006395	12006395	+	Silent	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:12006395G>T	ENST00000396373.4	+	4	637	c.363G>T	c.(361-363)ctG>ctT	p.L121L		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	121	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AGCATATTCTGAAGCAGAGGA	0.433000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								7	34					8.12818e-05	8.53686e-05	1	1	0
CAPN2	824	broad.mit.edu	37	1	223933095	223933095	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:223933095G>A	ENST00000295006.5	+	4	823	c.514G>A	c.(514-516)Gaa>Aaa	p.E172K	CAPN2_ENST00000433674.2_Missense_Mutation_p.E94K	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	172	Calpain catalytic.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GCATTCAGCCGAAGGGAGCGA	0.607000													38	64					0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196715008	196715008	+	Silent	SNP	G	G	A	rs41265217		TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:196715008G>A	ENST00000367429.4	+	21	3612	c.3372G>A	c.(3370-3372)ccG>ccA	p.P1124P		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1124	Sushi 19.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTCATTCCCGTTGTCAGTAT	0.408000													29	9					0	0	1	0	0
C14orf37	145407	broad.mit.edu	37	14	58605154	58605154	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:58605154G>C	ENST00000267485.7	-	2	1117	c.923C>G	c.(922-924)tCt>tGt	p.S308C	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	308						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						ACTTAAGGCAGAGGCAGCTGG	0.517000													72	67					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220494121	220494121	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:220494121C>T	ENST00000358055.3	+	4	985	c.473C>T	c.(472-474)tCa>tTa	p.S158L	SLC4A3_ENST00000317151.3_Missense_Mutation_p.S158L|SLC4A3_ENST00000273063.6_Missense_Mutation_p.S158L|SLC4A3_ENST00000373762.3_Missense_Mutation_p.S158L|SLC4A3_ENST00000373760.2_Missense_Mutation_p.S158L|SLC4A3_ENST00000497589.1_3'UTR			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	158	Pro-rich.				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCCCCCACTCAGGGACCCCA	0.622000													10	4					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73065188	73065188	+	RNA	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:73065188G>A	ENST00000429829.1	-	0	7400					NR_001564.2																						AAAAGGGTCTGAGAGTAGGAC	0.463000													26	15					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138434049	138434049	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:138434049G>A	ENST00000310018.2	-	12	1325	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.S348F|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.S348F	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	348					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						GGCCATGGAGGAGCCACTTAG	0.468000													21	36					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13419050	13419050	+	Silent	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:13419050G>C	ENST00000360228.5	-	14	1796	c.1797C>G	c.(1795-1797)ctC>ctG	p.L599L	CACNA1A_ENST00000573710.2_Silent_p.L600L	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	600					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)	CCAGGTTTCTGAGAGATGCCC	0.577000													15	12					0	0	1	0	0
RTKN2	219790	broad.mit.edu	37	10	63957777	63957777	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr10:63957777C>T	ENST00000373789.3	-	12	1816	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	574					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TCTGTGTGCTCACCATCACTT	0.453000													22	21					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129479	99129479	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:99129479G>T	ENST00000394170.2	+	7	2378	c.2127G>T	c.(2125-2127)aaG>aaT	p.K709N	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.K709N|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.K709N	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	709					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGACAAGAAGATTGAGTTAC	0.398000													9	62					3.09899e-07	3.33873e-07	1	1	0
KBTBD7	84078	broad.mit.edu	37	13	41768192	41768192	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr13:41768192C>G	ENST00000379483.3	-	1	510	c.202G>C	c.(202-204)Gag>Cag	p.E68Q		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	68	BTB.						protein binding	p.E68Q(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GTCACCACCTCGATGGTCACA	0.607000													43	9					0	0	1	0	0
CAMTA1	23261	broad.mit.edu	37	1	7725070	7725070	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:7725070C>T	ENST00000303635.7	+	9	2670	c.2463C>T	c.(2461-2463)ctC>ctT	p.L821L	CAMTA1_ENST00000439411.2_Silent_p.L821L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		AGATGTGCCTCCCCTGCTGTA	0.697000			T	WWTR1	epitheliod hemangioendothelioma								50	126					0	0	1	0	0
PAGE4	9506	broad.mit.edu	37	X	49597236	49597236	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:49597236C>T	ENST00000218068.6	+	4	354	c.275C>T	c.(274-276)gCt>gTt	p.A92V	PAGE4_ENST00000376141.1_Missense_Mutation_p.A92V	NM_007003.2	NP_008934.1	O60829	GAGC1_HUMAN	P antigen family, member 4 (prostate associated)	92												Ovarian(276;0.236)					CCTAAGCATGCTAAGACTAAA	0.398000													13	2					0	0	1	0	0
SYVN1	84447	broad.mit.edu	37	11	64900685	64900685	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:64900685C>T	ENST00000526060.1	-	3	363	c.171G>A	c.(169-171)ctG>ctA	p.L57L	SYVN1_ENST00000307289.6_Silent_p.L57L|SYVN1_ENST00000377190.3_Silent_p.L57L|SYVN1_ENST00000294256.8_Silent_p.L57L			Q86TM6	SYVN1_HUMAN	synovial apoptosis inhibitor 1, synoviolin	57					ER-associated protein catabolic process|response to stress	endoplasmic reticulum membrane|integral to membrane|nucleus	acid-amino acid ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TCACCTTGCCCAGAAGGAAGA	0.557000													7	44					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74274034	74274034	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:74274034G>C	ENST00000409262.3	+	1	585	c.585G>C	c.(583-585)caG>caC	p.Q195H		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	195							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						AGGTGCCCCAGATCTCTCCCC	0.647000													24	27					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21829254	21829254	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:21829254C>T	ENST00000216297.2	-	16	2250	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	638					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TCTTTCTCTTCAGCTTCTCGA	0.393000													3	30					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105881036	105881036	+	Silent	SNP	T	T	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:105881036T>C	ENST00000372548.4	+	8	1564	c.1455T>C	c.(1453-1455)ttT>ttC	p.F485F	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	485										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAAAAACTTTATTCAATGGA	0.398000													10	7					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20818356	20818356	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:20818356G>A	ENST00000261377.6	+	2	290	c.81G>A	c.(79-81)ggG>ggA	p.G27G	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Silent_p.G27G|AC004381.6_ENST00000567297.1_3'UTR|AC004381.6_ENST00000348433.6_Silent_p.G27G	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					AGCTGGTCGGGGCAGCTGAGG	0.632000											OREG0023666	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	6					0	0	1	0	0
E2F8	79733	broad.mit.edu	37	11	19251089	19251089	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:19251089C>G	ENST00000527884.1	-	10	2037	c.1805G>C	c.(1804-1806)aGa>aCa	p.R602T	RP11-428C19.4_ENST00000527978.1_RNA|E2F8_ENST00000250024.4_Missense_Mutation_p.R602T	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	602					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTTGAGCCTCTTTCTCCAGC	0.527000													34	73					0	0	1	0	0
YBX1	4904	broad.mit.edu	37	1	43166588	43166588	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:43166588G>A	ENST00000321358.7	+	7	1016	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	293					CRD-mediated mRNA stabilization|negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|positive regulation of cell division|transcription from RNA polymerase II promoter	CRD-mediated mRNA stability complex|extracellular region|histone pre-mRNA 3'end processing complex|nucleoplasm|stress granule|U12-type spliceosomal complex	double-stranded DNA binding|protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CAGACGCCCAGAAAACCCTAA	0.527000													11	88					0	0	1	0	0
GDAP1L1	78997	broad.mit.edu	37	20	42907908	42907908	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:42907908G>A	ENST00000342560.5	+	6	1160	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	GDAP1L1_ENST00000537864.1_Missense_Mutation_p.A166T	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	358										endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGGCTACTTTGCCTACTGGTA	0.577000													8	91					0	0	1	0	0
SLC15A1	6564	broad.mit.edu	37	13	99378462	99378462	+	Missense_Mutation	SNP	C	C	T	rs139463417	by1000genomes	TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr13:99378462C>T	ENST00000376503.5	-	4	215	c.160G>A	c.(160-162)Gcc>Acc	p.A54T		NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1	54					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)	TGGTAGATGGCGGTGGACAGG	0.502000													50	24					0	0	1	0	0
BTK	695	broad.mit.edu	37	X	100611774	100611774	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:100611774C>A	ENST00000308731.7	-	14	1510	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	BTK_ENST00000372880.1_Intron	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	449	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAACTCACATCATGACTTTGG	0.423000									Agammaglobulinemia, X-linked				6	48					3.59834e-05	3.80049e-05	1	1	0
GRIN2B	2904	broad.mit.edu	37	12	13716613	13716613	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:13716613G>A	ENST00000609686.1	-	13	3768	c.3559C>T	c.(3559-3561)Cac>Tac	p.H1187Y		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ACCACGCCGTGTTTGTCGCCC	0.622000													17	93					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45927673	45927673	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:45927673G>A	ENST00000311275.7	-	4	446	c.193C>T	c.(193-195)Ccg>Tcg	p.P65S	ZMYND8_ENST00000471951.2_Missense_Mutation_p.P85S|ZMYND8_ENST00000355972.4_Missense_Mutation_p.P65S|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000262975.4_Missense_Mutation_p.P65S|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000536340.1_Missense_Mutation_p.P92S|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000461685.1_Missense_Mutation_p.P85S|ZMYND8_ENST00000352431.2_Missense_Mutation_p.P85S|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000468376.2_Intron|ZMYND8_ENST00000396281.4_Intron	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	65							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)			TAGTAAAACGGACCATGTCTT	0.423000													8	32					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59284535	59284535	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:59284535C>T	ENST00000320743.3	-	4	713	c.427G>A	c.(427-429)Gag>Aag	p.E143K	LRIG3_ENST00000379141.4_Missense_Mutation_p.E83K	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	143						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GACTGAAACTCTTTCAGATGT	0.393000			T	ROS1	NSCLC								3	6					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97720683	97720683	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:97720683G>A	ENST00000275053.4	-	6	768	c.503C>T	c.(502-504)tCa>tTa	p.S168L	MMS22L_ENST00000369251.2_Missense_Mutation_p.S168L	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	168					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						AATCAACACTGAGGGAAGCTG	0.368000													6	10					0	0	1	0	0
AGER	177	broad.mit.edu	37	6	32151709	32151709	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:32151709C>T	ENST00000375076.4	-	2	209	c.108G>A	c.(106-108)ctG>ctA	p.L36L	AGER_ENST00000438221.2_Silent_p.L36L|AGER_ENST00000375055.2_Silent_p.L36L|AGER_ENST00000375065.5_Silent_p.L36L|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375067.3_Silent_p.L36L|AGER_ENST00000375070.3_Silent_p.L67L|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000538695.1_Silent_p.L36L	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	36	Ig-like V-type.				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	p.L36L(1)		breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						CCTTACACTTCAGCACCAGTG	0.592000													10	114					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48451974	48451974	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:48451974C>G	ENST00000435803.1	+	41	12277	c.12253C>G	c.(12253-12255)Ctg>Gtg	p.L4085V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4085					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						GGCCCATGATCTGAAAGACAT	0.373000													4	12					0	0	1	0	0
EMC3	55831	broad.mit.edu	37	3	10016100	10016100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:10016100C>T	ENST00000245046.2	-	4	838	c.380G>A	c.(379-381)tGg>tAg	p.W127*	EMC3_ENST00000429759.1_Nonsense_Mutation_p.W165*|EMC3_ENST00000497557.1_5'UTR	NM_018447.2	NP_060917.1			ER membrane protein complex subunit 3																		CATGTTGATCCATCCACCAAT	0.398000													6	62					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132240420	132240420	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:132240420G>A	ENST00000321253.6	+	5	1459	c.1352G>A	c.(1351-1353)tGa>tAa	p.*451*		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	0					'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)		GAAGAATACTGAGGGGAGGGT	0.547000													54	62					0	0	1	0	0
PSAPL1	768239	broad.mit.edu	37	4	7436240	7436240	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr4:7436240G>A	ENST00000319098.4	-	1	460	c.367C>T	c.(367-369)Cgt>Tgt	p.R123C	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	123	Saposin B-type 1.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GGGGCCCCACGGAGCATGCTC	0.637000													4	18					0	0	1	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33576289	33576289	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:33576289G>C	ENST00000504830.1	-	19	4177	c.3842C>G	c.(3841-3843)tCt>tGt	p.S1281C	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1196C	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1281	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GACTGGTTCAGAACTTTTTGT	0.498000										HNSCC(64;0.19)			30	295					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42004413	42004413	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:42004413C>T	ENST00000395925.3	-	15	4342	c.4258G>A	c.(4258-4260)Ggt>Agt	p.G1420S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1420					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ATCTTGATACCATTCACCCTG	0.557000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				32	110					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41958942	41958942	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:41958942G>A	ENST00000269095.4	-	7	1001	c.697C>T	c.(697-699)Cac>Tac	p.H233Y	MPP2_ENST00000518766.1_Missense_Mutation_p.H278Y|MPP2_ENST00000523501.1_Missense_Mutation_p.H222Y|MPP2_ENST00000520305.1_Missense_Mutation_p.H94Y|MPP2_ENST00000461854.1_Missense_Mutation_p.H257Y|MPP2_ENST00000377184.3_Missense_Mutation_p.H250Y|MPP2_ENST00000536246.1_Missense_Mutation_p.H222Y	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	257	PDZ.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TAGTCAAAGTGACATTTCACA	0.582000													34	68					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	40					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122618182	122618182	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:122618182G>A	ENST00000319080.7	+	9	1512	c.1380G>A	c.(1378-1380)ctG>ctA	p.L460L	MLXIP_ENST00000538698.1_Silent_p.L67L|MLXIP_ENST00000377037.2_Silent_p.L50L			Q9HAP2	MLXIP_HUMAN	MLX interacting protein						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)		CCACTGCCCTGAACCCCCCGG	0.637000													9	11					0	0	1	0	0
NFYC	4802	broad.mit.edu	37	1	41218876	41218876	+	Silent	SNP	C	C	T	rs139444755		TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:41218876C>T	ENST00000372652.1	+	5	613	c.345C>T	c.(343-345)atC>atT	p.I115I	NFYC_ENST00000308733.5_Silent_p.I115I|NFYC_ENST00000427410.2_Silent_p.I77I|NFYC_ENST00000425457.2_Silent_p.I115I|NFYC_ENST00000372651.1_Silent_p.I115I|NFYC_ENST00000372653.1_Silent_p.I115I|NFYC_ENST00000447388.3_Silent_p.I115I|NFYC_ENST00000456393.2_Silent_p.I115I|NFYC_ENST00000440226.3_Silent_p.I115I|NFYC_ENST00000372654.1_Silent_p.I115I			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	115					protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			ATTTTCTCATCGATATTGTTC	0.418000													4	17					0	0	1	0	0
KTI12	112970	broad.mit.edu	37	1	52499019	52499019	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:52499019C>T	ENST00000371614.1	-	1	469	c.415G>A	c.(415-417)Gag>Aag	p.E139K	TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	139							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CCGTCCTCCTCAGCGCGTGGC	0.677000													22	97					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70254903	70254903	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:70254903C>T	ENST00000342771.4	+	19	3022	c.2701C>T	c.(2701-2703)Cgc>Tgc	p.R901C	AUTS2_ENST00000406775.2_Missense_Mutation_p.R877C	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	901								p.R901C(1)		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)		CTCGGAATCCCGCAAGGACCT	0.647000													12	24					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	7038884	7038884	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr18:7038884G>A	ENST00000389658.3	-	11	1581	c.1488C>T	c.(1486-1488)aaC>aaT	p.N496N		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	496	Laminin EGF-like 4.				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)	AGCCCCGGGGGTTTTTTTCCT	0.537000													78	208					0	0	1	0	0
FBXO42	54455	broad.mit.edu	37	1	16577604	16577604	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:16577604G>A	ENST00000375592.3	-	10	1931	c.1715C>T	c.(1714-1716)tCg>tTg	p.S572L		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	572										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGCAGAGGCCGAGGGGCCTTT	0.637000													55	37					0	0	1	0	0
MTX3	345778	broad.mit.edu	37	5	79279555	79279555	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:79279555C>T	ENST00000512560.1	-	8	827	c.708G>A	c.(706-708)ttG>ttA	p.L236L	MTX3_ENST00000509852.1_3'UTR|MTX3_ENST00000512528.1_Silent_p.L297L	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	297					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		CTGCTGGAGTCAATTTAAGTG	0.428000													13	34					0	0	1	0	0
DBH	1621	broad.mit.edu	37	9	136509404	136509404	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:136509404G>A	ENST00000393056.2	+	5	998	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	329					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	AGATATCTCCGCCTGGAAGTT	0.582000													10	57					0	0	1	0	0
USP17L2	377630	broad.mit.edu	37	8	11995006	11995006	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:11995006C>T	ENST00000333796.3	-	1	1580	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	422					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						ACCAAGCGCTCGTCCAACTCG	0.557000													13	27					0	0	1	0	0
ZKSCAN5	23660	broad.mit.edu	37	7	99129196	99129196	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:99129196G>C	ENST00000394170.2	+	7	2095	c.1844G>C	c.(1843-1845)aGa>aCa	p.R615T	ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R615T|ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R615T	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	615					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGCCTTCAGAGTGAGGTCC	0.552000													7	53					0	0	1	0	0
KLRC3	3823	broad.mit.edu	37	12	10570972	10570972	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:10570972G>C	ENST00000396439.2	-	4	501	c.457C>G	c.(457-459)Ctg>Gtg	p.L153V	KLRC3_ENST00000381904.2_Missense_Mutation_p.L153V|NKG2-E_ENST00000539033.1_Missense_Mutation_p.L153V|KLRC3_ENST00000381903.2_Missense_Mutation_p.L153V	NM_002261.2	NP_002252.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATACAAAGCAGACTAGAAGAG	0.333000													6	31					0	0	1	0	0
UPF1	5976	broad.mit.edu	37	19	18965421	18965421	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:18965421G>C	ENST00000262803.5	+	9	1440	c.1168G>C	c.(1168-1170)Gag>Cag	p.E390Q	UPF1_ENST00000599848.1_Missense_Mutation_p.E401Q	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	401	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	p.E390*(1)		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						TTATGGCGATGAGATCGCCAT	0.517000													9	186					0	0	1	0	0
RAB37	326624	broad.mit.edu	37	17	72740491	72740491	+	Silent	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:72740491G>T	ENST00000340415.3	+	6	1399	c.390G>T	c.(388-390)gtG>gtT	p.V130V	RAB37_ENST00000528438.1_Silent_p.V110V|RAB37_ENST00000392615.5_Silent_p.V105V|RAB37_ENST00000402449.4_Silent_p.V130V|RAB37_ENST00000392614.4_Silent_p.V142V|RAB37_ENST00000392610.1_Silent_p.V137V|RAB37_ENST00000392612.3_Silent_p.V100V|RAB37_ENST00000392613.5_Silent_p.V137V	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	137					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						GGGACGTGGTGATCATGCTGC	0.607000											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	78					0.00136819	0.0014133	1	1	0
SETD1A	9739	broad.mit.edu	37	16	30976109	30976109	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:30976109C>T	ENST00000262519.8	+	7	1732	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	349	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						tcgtcctcctcgtcatcctct	0.567000													8	135					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105257240	105257240	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:105257240G>C	ENST00000507740.1	+	18	3109	c.2873G>C	c.(2872-2874)cGa>cCa	p.R958P	RIMS2_ENST00000406091.3_Missense_Mutation_p.R1144P|RIMS2_ENST00000339750.2_Missense_Mutation_p.R80P|RIMS2_ENST00000262231.10_Missense_Mutation_p.R983P|RIMS2_ENST00000436393.2_Missense_Mutation_p.R1162P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1206					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)			CAGGCAAGCCGAGAGTCTACA	0.507000										HNSCC(12;0.0054)			7	114					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256486	24256486	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:24256486G>C	ENST00000538205.1	+	10	1172	c.625G>C	c.(625-627)Gac>Cac	p.D209H	ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.D209H|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.D288H|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	288					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CACCACGTTTGACAACTTCCT	0.493000													7	9					0	0	1	0	0
FAM179B	23116	broad.mit.edu	37	14	45432618	45432618	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:45432618G>A	ENST00000361462.2	+	1	1177	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K	FAM179B_ENST00000361577.3_Missense_Mutation_p.E332K|FAM179B_ENST00000382233.2_Missense_Mutation_p.E332K			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	332							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TGGATTTCCTGAAGATCCCCT	0.473000													24	63					0	0	1	0	0
KCNAB1	7881	broad.mit.edu	37	3	156254482	156254482	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:156254482G>A	ENST00000302490.8	+	14	2023	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	KCNAB1_ENST00000490337.1_Silent_p.E402E|KCNAB1_ENST00000389634.5_Silent_p.E355E|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Silent_p.E373E|KCNAB1_ENST00000471742.1_Silent_p.E391E	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	402						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.E402D(1)|p.E384D(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGTAAATGAGATTGATAACA	0.428000													5	35					0	0	1	0	0
TNFRSF10B	8795	broad.mit.edu	37	8	22880321	22880321	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:22880321C>G	ENST00000276431.4	-	9	1470	c.1186G>C	c.(1186-1188)Gat>Cat	p.D396H	TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.D216H|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.D367H	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	396	Death.				activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		ACAGAGGCATCTCGCCCGGTT	0.532000													4	50					0	0	1	0	0
PDE10A	10846	broad.mit.edu	37	6	165749623	165749623	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:165749623C>T	ENST00000366882.1	-	22	2380	c.2226G>A	c.(2224-2226)ctG>ctA	p.L742L	PDE10A_ENST00000354448.4_Silent_p.L742L|PDE10A_ENST00000539869.2_Silent_p.L752L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	742					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TGCATGCTTTCAGAAGAGGCT	0.478000													7	9					0	0	1	0	0
TAF4B	6875	broad.mit.edu	37	18	23845165	23845165	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr18:23845165G>A	ENST00000269142.5	+	2	1373	c.375G>A	c.(373-375)ccG>ccA	p.P125P	TAF4B_ENST00000578121.1_Silent_p.P125P|TAF4B_ENST00000400466.2_Silent_p.P125P	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	125					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACAGTGGTCCGTTGATGTTGG	0.388000													16	22					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216289908	216289908	+	Silent	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:216289908G>C	ENST00000354785.4	-	7	1314	c.945C>G	c.(943-945)gtC>gtG	p.V315V	FN1_ENST00000421182.1_Silent_p.V315V|FN1_ENST00000345488.5_Silent_p.V315V|FN1_ENST00000356005.4_Silent_p.V315V|FN1_ENST00000323926.6_Silent_p.V315V|FN1_ENST00000336916.4_Silent_p.V315V|FN1_ENST00000432072.2_Silent_p.V315V|FN1_ENST00000359671.1_Silent_p.V315V|FN1_ENST00000346544.3_Silent_p.V315V|FN1_ENST00000426059.1_Silent_p.V315V|FN1_ENST00000357009.2_Silent_p.V315V|FN1_ENST00000443816.1_Silent_p.V315V|FN1_ENST00000357867.4_Silent_p.V315V|FN1_ENST00000446046.1_Silent_p.V315V			P02751	FINC_HUMAN	fibronectin 1	315	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)	CCACAGAGTAGACCACACCAC	0.557000													81	57					0	0	1	0	0
MYO1G	64005	broad.mit.edu	37	7	45004594	45004594	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:45004594G>A	ENST00000258787.7	-	18	2612	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	826						myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CAGTCCTGACGAAGCCCTTGC	0.677000													22	127					0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	386331	386331	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:386331G>A	ENST00000256509.2	+	9	1429	c.787G>A	c.(787-789)Gag>Aag	p.E263K	CHL1_ENST00000397491.2_Missense_Mutation_p.E247K	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	247	Ig-like C2-type 3.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		GAGTGGCAGTGAGTCTTCAAT	0.403000													6	49					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44932541	44932541	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:44932541G>T	ENST00000291187.4	-	6	2719	c.2397C>A	c.(2395-2397)ttC>ttA	p.F799L	ZNF229_ENST00000588931.1_Missense_Mutation_p.F805L|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	805					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGGTATAACTGAAGCCTTTCC	0.493000													12	27					1.5842e-08	1.73157e-08	1	1	0
CARF	79800	broad.mit.edu	37	2	203817341	203817341	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:203817341G>A	ENST00000402905.3	+	5	687	c.366G>A	c.(364-366)caG>caA	p.Q122Q	CARF_ENST00000434998.1_Silent_p.Q20Q|CARF_ENST00000545262.1_Silent_p.Q46Q|CARF_ENST00000438828.2_Silent_p.Q122Q|CARF_ENST00000414439.1_Silent_p.Q20Q|CARF_ENST00000456821.2_Silent_p.Q110Q|CARF_ENST00000320443.8_Silent_p.Q122Q|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000545253.1_Silent_p.Q34Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000444724.1_Silent_p.Q122Q|CARF_ENST00000428585.1_Silent_p.Q46Q	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1			calcium responsive transcription factor																		CACCTACCCAGACAGGAATGG	0.428000													19	17					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9989686	9989686	+	Splice_Site	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:9989686C>T	ENST00000412055.1	-	4	1301		c.e4-1		PRRT3-AS1_ENST00000431558.1_RNA	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3							integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TCGGCTTCATCTGCAATTATA	0.507000													4	14					0	0	1	0	0
MGAT4B	11282	broad.mit.edu	37	5	179228556	179228556	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:179228556C>T	ENST00000337755.5	-	2	1353	c.467G>A	c.(466-468)gGa>gAa	p.G156E	MGAT4B_ENST00000521305.1_5'UTR|MGAT4B_ENST00000292591.7_Missense_Mutation_p.G141E	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	141					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCCATACCTCCGGTGCGGCC	0.711000													3	14					0	0	1	0	0
CIDEA	1149	broad.mit.edu	37	18	12262897	12262897	+	Silent	SNP	C	C	A	rs150760390	byFrequency	TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr18:12262897C>A	ENST00000320477.9	+	2	177	c.112C>A	c.(112-114)Cgg>Agg	p.R38R	CIDEA_ENST00000521296.1_3'UTR	NM_001279.3	NP_001270.1	O60543	CIDEA_HUMAN	cell death-inducing DFFA-like effector a	38	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						TCGCCCTTTCCGGGTCTCCAA	0.582000													14	110					7.07596e-05	7.45255e-05	1	1	0
KPNA2	3838	broad.mit.edu	37	17	66036859	66036859	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:66036859G>A	ENST00000537025.2	+	4	899	c.279G>A	c.(277-279)caG>caA	p.Q93Q	KPNA2_ENST00000330459.3_Silent_p.Q93Q			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	93					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGGAAAATCAGCTCCAAGCTA	0.408000													9	69					0	0	1	0	0
OR7A17	26333	broad.mit.edu	37	19	14991482	14991482	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:14991482G>C	ENST00000327462.2	-	1	782	c.686C>G	c.(685-687)tCa>tGa	p.S229*		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					CTGAGCTGATGAGATTGCACG	0.488000													13	53					0	0	1	0	0
LRIT1	26103	broad.mit.edu	37	10	85993980	85993980	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr10:85993980C>T	ENST00000372105.3	-	3	765	c.744G>A	c.(742-744)ctG>ctA	p.L248L		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	248	LRRCT.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGCACTTCCTCAGTTCAAGCT	0.597000													16	65					0	0	1	0	0
ATG2B	55102	broad.mit.edu	37	14	96777901	96777901	+	Missense_Mutation	SNP	T	T	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:96777901T>C	ENST00000359933.4	-	27	4861	c.3968A>G	c.(3967-3969)aAg>aGg	p.K1323R		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1323										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGAATCAGACTTCACTGCAGT	0.279000													16	10					0	0	1	0	0
ZNF251	90987	broad.mit.edu	37	8	145948117	145948117	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:145948117G>A	ENST00000292562.7	-	5	1203	c.928C>T	c.(928-930)Caa>Taa	p.Q310*	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		ATCCGATGTTGAATAAGAGTT	0.463000													18	21					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142228320	142228320	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:142228320C>T	ENST00000519067.1	-	4	1569	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q	SLC45A4_ENST00000024061.3_Silent_p.Q422Q|SLC45A4_ENST00000433583.2_Silent_p.Q415Q|SLC45A4_ENST00000517878.1_Silent_p.Q473Q			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	473					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)			TGGCCCCGCTCTGGTTCCGGT	0.692000													22	18					0	0	1	0	0
TRIM65	201292	broad.mit.edu	37	17	73888485	73888485	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:73888485C>T	ENST00000269383.3	-	3	672	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	203						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGCCACCTCGATGCTCCTC	0.642000													4	41					0	0	1	0	0
NPTXR	23467	broad.mit.edu	37	22	39224455	39224455	+	Silent	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr22:39224455G>T	ENST00000333039.2	-	2	810	c.687C>A	c.(685-687)acC>acA	p.T229T		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	229						integral to membrane	metal ion binding	p.T229T(1)		central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGTGTAGGCCGGTGGGCACAG	0.647000													7	18					0.0293803	0.0296963	1	1	0
BACE2	25825	broad.mit.edu	37	21	42540362	42540362	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr21:42540362G>A	ENST00000347667.5	+	1	635	c.172G>A	c.(172-174)Gac>Aac	p.D58N	BACE2_ENST00000328735.6_Missense_Mutation_p.D58N|BACE2_ENST00000330333.6_Missense_Mutation_p.D58N	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GCGCCACGCCGACGGCTTGGC	0.771000													4	6					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128483610	128483610	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:128483610C>T	ENST00000325888.8	+	18	3051	c.2790C>T	c.(2788-2790)gtC>gtT	p.V930V	FLNC_ENST00000346177.6_Silent_p.V930V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	930					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCTACACTGTCAAGTACACCG	0.632000													5	67					0	0	1	0	0
SNRPE	6635	broad.mit.edu	37	1	203832818	203832818	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:203832818G>A	ENST00000414487.2	+	3	154	c.109G>A	c.(109-111)Gag>Aag	p.E37K	SNRPE_ENST00000367208.1_5'UTR|SNRPE_ENST00000483099.1_3'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	37					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GTGGCTCTATGAGCAAGTGAA	0.433000													44	102					0	0	1	0	0
DCAF12L2	340578	broad.mit.edu	37	X	125299408	125299408	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:125299408C>T	ENST00000538699.1	-	2	580	c.500G>A	c.(499-501)gGc>gAc	p.G167D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G167D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	167								p.G167D(1)		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						GTTTTCGCCGCCGGTGGCCAG	0.677000													6	41					0	0	1	0	0
FXR1	8087	broad.mit.edu	37	3	180688077	180688077	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:180688077G>A	ENST00000357559.4	+	15	1918	c.1534G>A	c.(1534-1536)Gat>Aat	p.D512N	FXR1_ENST00000445140.2_Missense_Mutation_p.D512N|FXR1_ENST00000480918.1_Missense_Mutation_p.D499N|FXR1_ENST00000491062.1_Missense_Mutation_p.D463N|FXR1_ENST00000468861.1_Missense_Mutation_p.D427N|FXR1_ENST00000305586.7_Missense_Mutation_p.D427N	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	512					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			ACGAAGGACTGATGAAGATGC	0.423000													18	60					0	0	1	0	0
NLRX1	79671	broad.mit.edu	37	11	119050748	119050748	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:119050748C>A	ENST00000409109.1	+	7	2605	c.2018C>A	c.(2017-2019)tCa>tAa	p.S673*	NLRX1_ENST00000292199.2_Nonsense_Mutation_p.S673*|NLRX1_ENST00000409265.4_Nonsense_Mutation_p.S673*|NLRX1_ENST00000525863.1_Nonsense_Mutation_p.S673*|NLRX1_ENST00000409991.1_Nonsense_Mutation_p.S673*	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	673	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCCCCCATCAGAGCTCCTT	0.607000													14	37					4.3838e-07	4.70945e-07	1	1	0
CCHCR1	54535	broad.mit.edu	37	6	31112514	31112514	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:31112514G>T	ENST00000396268.3	-	15	2305	c.2117C>A	c.(2116-2118)tCa>tAa	p.S706*	CCHCR1_ENST00000376266.5_Nonsense_Mutation_p.S617*|CCHCR1_ENST00000396263.2_Nonsense_Mutation_p.S564*|CCHCR1_ENST00000451521.2_Nonsense_Mutation_p.S670*	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	617					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						CTCTGTGTCTGAGAGTTGCTC	0.577000													78	304					4.38691e-48	4.98332e-48	1	1	0
CD300E	342510	broad.mit.edu	37	17	72613536	72613536	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:72613536G>A	ENST00000392619.1	-	2	225	c.190C>T	c.(190-192)Cag>Tag	p.Q64*	CD300E_ENST00000328630.3_Nonsense_Mutation_p.Q37*|CD300E_ENST00000426295.2_Nonsense_Mutation_p.Q78*	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	37	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						CTCTCATACTGACACCACACT	0.542000													7	59					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3263579	3263579	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:3263579C>A	ENST00000602557.1	-	16	2794	c.2239G>T	c.(2239-2241)Gtc>Ttc	p.V747F	CSMD1_ENST00000542608.1_Missense_Mutation_p.V746F|CSMD1_ENST00000537824.1_Missense_Mutation_p.V746F|CSMD1_ENST00000539096.1_Missense_Mutation_p.V746F|CSMD1_ENST00000520002.1_Missense_Mutation_p.V747F|CSMD1_ENST00000602723.1_Missense_Mutation_p.V747F|CSMD1_ENST00000400186.3_Missense_Mutation_p.V747F			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	747	Sushi 4.					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)		GAGCTCCAGACCACGTTCCCG	0.547000													8	15					1.06961e-07	1.16235e-07	1	1	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806511	27806511	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:27806511G>A	ENST00000606613.1	+	1	133	c.72G>A	c.(70-72)aaG>aaA	p.K24K	HIST1H2BN_ENST00000396980.3_Silent_p.K24K			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	24					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						AGGCCCAGAAGAAGGACGGCA	0.587000													128	162					0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179747	3179747	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:3179747C>T	ENST00000246115.3	+	1	1012	c.957C>T	c.(955-957)ctC>ctT	p.L319L		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	319					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GAGCCGTGCTCAGCTTCCTCT	0.687000													6	92					0	0	1	0	0
NAA38	51691	broad.mit.edu	37	7	117828377	117828377	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:117828377G>A	ENST00000424702.1	+	3	198	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	NAA38_ENST00000249299.2_Missense_Mutation_p.E40K|NAA38_ENST00000422760.1_Missense_Mutation_p.E19K			O95777	NAA38_HUMAN	N(alpha)-acetyltransferase 38, NatC auxiliary subunit	40					nuclear mRNA splicing, via spliceosome	nucleus|ribonucleoprotein complex	protein binding|U6 snRNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GATTTTGGATGAAAGCCATGA	0.363000													4	19					0	0	1	0	0
A4GNT	51146	broad.mit.edu	37	3	137843184	137843184	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:137843184G>A	ENST00000236709.3	-	3	1146	c.945C>T	c.(943-945)caC>caT	p.H315H		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	315					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						TCCTGGGACAGTGCTTGCGAT	0.517000													10	101					0	0	1	0	0
NFAT5	10725	broad.mit.edu	37	16	69681446	69681446	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:69681446C>G	ENST00000349945.1	+	5	2039	c.487C>G	c.(487-489)Cag>Gag	p.Q163E	NFAT5_ENST00000567239.1_Missense_Mutation_p.Q257E|NFAT5_ENST00000354436.2_Missense_Mutation_p.Q239E|NFAT5_ENST00000393742.2_Missense_Mutation_p.Q163E|NFAT5_ENST00000566899.1_Missense_Mutation_p.Q163E|NFAT5_ENST00000432919.1_Missense_Mutation_p.Q257E	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	239					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGTGCTTTCTCAGCTTACCAC	0.403000													5	58					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134987437	134987437	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:134987437G>A	ENST00000535938.1	+	5	507	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	SAGE1_ENST00000370709.3_Missense_Mutation_p.E114K|SAGE1_ENST00000324447.3_Missense_Mutation_p.E114K|SAGE1_ENST00000537770.1_Missense_Mutation_p.E114K	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	114										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CAATATCCGTGAAGAGAGGAT	0.458000													17	3					0	0	1	0	0
MARCH2	51257	broad.mit.edu	37	19	8495718	8495718	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:8495718C>T	ENST00000602117.1	+	4	1004	c.549C>T	c.(547-549)atC>atT	p.I183I	MARCH2_ENST00000393944.1_Silent_p.I183I|MARCH2_ENST00000215555.2_Silent_p.I183I|MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Intron			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	183					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						CCCTCACCATCGCCCTCTTCA	0.662000													3	17					0	0	1	0	0
HTR1D	3352	broad.mit.edu	37	1	23520622	23520622	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:23520622G>A	ENST00000374619.1	-	1	600	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	HTR1D_ENST00000314113.3_Missense_Mutation_p.P31S	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	31					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGGGTCCTGGGATCCCAAGCC	0.577000													20	115					0	0	1	0	0
APOBEC2	10930	broad.mit.edu	37	6	41021206	41021206	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:41021206G>A	ENST00000244669.2	+	1	164	c.120G>A	c.(118-120)gaG>gaA	p.E40E		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	40					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGCCCTTTGAGATTGTCACAG	0.547000													22	92					0	0	1	0	0
PTPN23	25930	broad.mit.edu	37	3	47447839	47447839	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:47447839G>C	ENST00000265562.4	+	7	648	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	PTPN23_ENST00000431726.1_Missense_Mutation_p.E65Q	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	191	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTGCCTCCTGGAGAAGTCGAT	0.622000													6	45					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82924110	82924110	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:82924110C>T	ENST00000526731.1	+	6	1098	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	ANKRD42_ENST00000533342.1_Intron|ANKRD42_ENST00000260047.6_Intron|ANKRD42_ENST00000393389.3_3'UTR|ANKRD42_ENST00000531895.1_Intron|RP11-727A23.7_ENST00000531869.1_RNA|ANKRD42_ENST00000393392.2_Intron			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	0										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAAGTTCTTCCGGCACCAGAC	0.488000													17	27					0	0	1	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26032076	26032076	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:26032076C>T	ENST00000244661.2	-	1	212	c.213G>A	c.(211-213)ctG>ctA	p.L71L		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	71					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTCTCGCACCAGGCGCTGGA	0.612000													15	182					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520155	58520155	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:58520155G>T	ENST00000302819.5	-	3	546	c.255C>A	c.(253-255)ttC>ttA	p.F85L	ACOX2_ENST00000459701.2_Missense_Mutation_p.F85L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	85					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		ACCGGATGTGGAATGCCCTCC	0.522000													15	90					3.27435e-08	3.56857e-08	1	1	0
CLEC3A	10143	broad.mit.edu	37	16	78064695	78064695	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:78064695G>A	ENST00000299642.4	+	3	663	c.578G>A	c.(577-579)cGc>cAc	p.R193H	CLEC3A_ENST00000565808.1_3'UTR|CLEC3A_ENST00000575655.1_Missense_Mutation_p.R184H|RP11-281J9.2_ENST00000563114.1_RNA	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	184					skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAGGCCTGTCGCAGCAGCAAG	0.493000													10	18					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184846	19184846	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:19184846C>A	ENST00000275461.3	-	1	198	c.140G>T	c.(139-141)cGa>cTa	p.R47L	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	47					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						TCTTCCCTCTCGGAGCGCAAG	0.657000													14	64					4.7546e-09	5.22728e-09	1	1	0
TRBV7-4	28594	broad.mit.edu	37	7	142176577	142176577	+	RNA	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:142176577C>G	ENST00000390369.2	-	0	98																											CCCGTCCCCTCTTTGCGACTT	0.483000													7	49					0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	55924836	55924836	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:55924836G>A	ENST00000244728.5	-	28	2985	c.2588C>T	c.(2587-2589)cCa>cTa	p.P863L	COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Missense_Mutation_p.P860L|COL21A1_ENST00000370808.2_Missense_Mutation_p.P229L|COL21A1_ENST00000535941.1_Missense_Mutation_p.P863L	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	863	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TCTGACACCTGGACGTCCAGG	0.433000													11	97					0	0	1	0	0
RTEL1	51750	broad.mit.edu	37	20	62298845	62298845	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:62298845G>A	ENST00000318100.4	+	8	1465	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	RTEL1_ENST00000370018.3_Missense_Mutation_p.R213Q|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R213Q|RTEL1_ENST00000360203.5_Missense_Mutation_p.R213Q|RTEL1_ENST00000508582.2_Missense_Mutation_p.R237Q	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	213	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TACCTGTCCCGGAACCTGAAG	0.577000													44	97					0	0	1	0	0
WDR45B	56270	broad.mit.edu	37	17	80573890	80573890	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:80573890C>A	ENST00000392325.4	-	10	1134	c.940G>T	c.(940-942)Gac>Tac	p.D314Y	WDR45B_ENST00000571835.1_Intron	NM_019613.3	NP_062559.2			WD repeat domain 45B																		TAGCTGCCGTCTGCACAAATT	0.493000													5	61					0.184627	0.18512	1	1	0
RBM25	58517	broad.mit.edu	37	14	73578279	73578279	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:73578279G>C	ENST00000261973.7	+	16	2346	c.2061G>C	c.(2059-2061)aaG>aaC	p.K687N	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Missense_Mutation_p.K687N	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	687					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	p.K687N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		TGAAGAGAAAGAAACTACCTG	0.378000													10	19					0	0	1	0	0
ALYREF	10189	broad.mit.edu	37	17	79847068	79847068	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:79847068G>A	ENST00000331204.4	-	3	533	c.507C>T	c.(505-507)gtC>gtT	p.V169V	ALYREF_ENST00000505490.2_Silent_p.V176V|ALYREF_ENST00000512673.1_5'UTR	NM_005782.3	NP_005773.3	Q86V81	THOC4_HUMAN	Aly/REF export factor	169	Ala/Arg/Gly-rich.|RRM.			V -> F (in Ref. 5; AAD09608).	intronless viral mRNA export from host nucleus|mRNA 3'-end processing|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear speck|transcription export complex	nucleotide binding|protein binding|RNA binding										CATCCAGAGGGACGCCGTTGT	0.592000													6	43					0	0	1	0	0
MTHFD1	4522	broad.mit.edu	37	14	64916173	64916173	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:64916173G>A	ENST00000545908.1	+	24	2687	c.2458G>A	c.(2458-2460)Gag>Aag	p.E820K	ZBTB25_ENST00000555424.1_3'UTR|MTHFD1_ENST00000216605.8_Missense_Mutation_p.E764K|ZBTB25_ENST00000555220.1_3'UTR			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	764	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GACGGATACAGAGTCTGAGCT	0.478000													8	107					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13850237	13850237	+	Splice_Site	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:13850237C>T	ENST00000284951.5	-	14	1242		c.e14-1		SEL1L2_ENST00000486903.1_Splice_Site|SEL1L2_ENST00000378072.5_Splice_Site			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)							integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGGCATAATTCTGCAAGATAA	0.418000													7	12					0	0	1	0	0
TMEM245	23731	broad.mit.edu	37	9	111819589	111819589	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:111819589G>C	ENST00000374586.3	-	12	1767	c.1736C>G	c.(1735-1737)tCt>tGt	p.S579C		NM_032012.3	NP_114401.2	Q9H330	CI005_HUMAN	transmembrane protein 245	579						integral to membrane											GTGCCTTCCAGAGTGTGTTAC	0.418000													5	18					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80329310	80329310	+	Silent	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr4:80329310C>A	ENST00000358842.3	-	1	62	c.45G>T	c.(43-45)gcG>gcT	p.A15A		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	15					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						CCTGGACCACCGCTCCCACCA	0.552000													8	51					0.000157383	0.000164836	1	1	0
VPS52	6293	broad.mit.edu	37	6	33232182	33232182	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:33232182C>T	ENST00000445902.2	-	14	1711	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.R373H	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	498					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCCCCCTAGGCGCTGGGGGTC	0.572000													35	134					0	0	1	0	0
PMS2P3	5387	broad.mit.edu	37	7	75156974	75156974	+	RNA	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:75156974C>T	ENST00000418756.1	-	0	479					NR_028059.1															lung(1)	1						CGCGCGTCTGCTCGCGAGGTC	0.731000													3	11					0	0	1	0	0
PIK3CD	5293	broad.mit.edu	37	1	9784049	9784049	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:9784049G>A	ENST00000536656.1	+	21	2897	c.2689G>A	c.(2689-2691)Gag>Aag	p.E897K	PIK3CD_ENST00000377346.4_Missense_Mutation_p.E873K|PIK3CD_ENST00000361110.2_Missense_Mutation_p.E897K			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	873	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TCGAGCCATTGAGGAGTTCAC	0.542000													12	88					0	0	1	0	0
RGS13	6003	broad.mit.edu	37	1	192627377	192627377	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:192627377C>T	ENST00000391995.2	+	6	462	c.174C>T	c.(172-174)gaC>gaT	p.D58D	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Silent_p.D58D	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	58	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AGCACAGTGACGAGAATATTC	0.363000													16	5					0	0	1	0	0
TTBK2	146057	broad.mit.edu	37	15	43086951	43086951	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr15:43086951C>T	ENST00000267890.6	-	10	979	c.871G>A	c.(871-873)Gag>Aag	p.E291K	TTBK2_ENST00000567274.1_Missense_Mutation_p.E256K|TTBK2_ENST00000567840.1_Missense_Mutation_p.E291K	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	291					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGGTCACTCTCAATTACTCCA	0.433000													7	39					0	0	1	0	0
SLC12A2	6558	broad.mit.edu	37	5	127474291	127474291	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:127474291G>A	ENST00000262461.2	+	8	1600	c.1411G>A	c.(1411-1413)Gaa>Aaa	p.E471K	SLC12A2_ENST00000343225.4_Missense_Mutation_p.E471K	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	471					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			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)	CTCTGCAGCTGAAATATTTAA	0.368000													4	18					0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10053352	10053352	+	Silent	SNP	A	A	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:10053352A>G	ENST00000263663.5	+	12	1433	c.1245A>G	c.(1243-1245)aaA>aaG	p.K415K	TAF1B_ENST00000396242.3_Silent_p.K160K	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	415					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGAGAAAAAACAAAAATGGG	0.353000													10	13					0	0	1	0	0
JUP	3728	broad.mit.edu	37	17	39913896	39913896	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:39913896G>A	ENST00000393931.3	-	11	2032	c.1914C>T	c.(1912-1914)aaC>aaT	p.N638N	JUP_ENST00000310706.5_Silent_p.N638N|JUP_ENST00000540235.1_Intron|JUP_ENST00000393930.1_Silent_p.N638N	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	638					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)		CAGTGCCCTCGTTGCGGGAGT	0.667000													23	40					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34897162	34897162	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr21:34897162C>G	ENST00000381831.3	-	11	1475	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	GART_ENST00000381839.3_Missense_Mutation_p.K404N|GART_ENST00000381815.4_Missense_Mutation_p.K404N|GART_ENST00000361093.5_Missense_Mutation_p.K404N	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	404					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CTAGTCCTTTCTTGGCTTCCT	0.478000													7	92					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12512468	12512468	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr18:12512468C>T	ENST00000409402.4	-	5	1059	c.792G>A	c.(790-792)ctG>ctA	p.L264L	SPIRE1_ENST00000383356.2_Silent_p.L105L|SPIRE1_ENST00000453447.2_Silent_p.L144L|SPIRE1_ENST00000309836.5_Silent_p.L67L|SPIRE1_ENST00000410092.3_Silent_p.L264L	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	264						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						CAGCGTTTTTCAGCTCTTCCA	0.328000													6	37					0	0	1	0	0
PDE2A	5138	broad.mit.edu	37	11	72297215	72297215	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:72297215C>A	ENST00000334456.5	-	14	1326	c.1081G>T	c.(1081-1083)Gag>Tag	p.E361*	RP11-169D4.2_ENST00000545254.1_RNA|PDE2A_ENST00000376450.3_Nonsense_Mutation_p.E105*|PDE2A_ENST00000418754.2_Nonsense_Mutation_p.E246*|PDE2A_ENST00000444035.2_Nonsense_Mutation_p.E352*|PDE2A_ENST00000540345.1_Nonsense_Mutation_p.E352*|PDE2A_ENST00000544570.1_Nonsense_Mutation_p.E354*	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	361	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.E361*(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TGCTCGTCCTCGTCGGTGAAC	0.577000											OREG0021196	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	9					5.9392e-07	6.36222e-07	1	1	0
MYO18A	399687	broad.mit.edu	37	17	27421746	27421746	+	Silent	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:27421746G>T	ENST00000527372.1	-	30	4812	c.4632C>A	c.(4630-4632)ctC>ctA	p.L1544L	MYO18A_ENST00000531253.1_Silent_p.L1544L|MYO18A_ENST00000354329.4_Silent_p.L1544L|MYO18A_ENST00000533112.1_Silent_p.L1544L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1544					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CCAGGTCCCGGAGCTGTTTCT	0.557000													9	144					3.09899e-07	3.33873e-07	1	1	0
KCNH6	81033	broad.mit.edu	37	17	61611481	61611481	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:61611481G>C	ENST00000583023.1	+	5	921	c.910G>C	c.(910-912)Gat>Cat	p.D304H	KCNH6_ENST00000314672.5_Missense_Mutation_p.D304H|KCNH6_ENST00000456941.2_Missense_Mutation_p.D304H|KCNH6_ENST00000581784.1_Missense_Mutation_p.D304H|KCNH6_ENST00000580652.1_Missense_Mutation_p.D304H	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	304					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CACTGTGGTGGATCTCATCGT	0.587000													26	190					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51846009	51846009	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:51846009G>C	ENST00000453097.2	+	4	596	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	SLC4A8_ENST00000358657.3_Missense_Mutation_p.E154Q|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E74Q|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E74Q|SLC4A8_ENST00000514353.3_Missense_Mutation_p.E74Q	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	127					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGTATGAAAGAGGGAGAAGA	0.498000													21	164					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69103062	69103062	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:69103062G>T	ENST00000229179.4	+	9	1106	c.774G>T	c.(772-774)caG>caT	p.Q258H	NUP107_ENST00000539906.1_Missense_Mutation_p.Q229H|NUP107_ENST00000378905.2_Missense_Mutation_p.Q107H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	258					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CGTTATTTCAGAGGGATTCAC	0.313000													8	13					9.70103e-10	1.06967e-09	1	1	0
MOB3C	148932	broad.mit.edu	37	1	47078804	47078804	+	Missense_Mutation	SNP	C	C	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:47078804C>A	ENST00000371940.1	-	1	3333	c.259G>T	c.(259-261)Gtg>Ttg	p.V87L	MOB3C_ENST00000477318.1_5'UTR|MOB3C_ENST00000271139.8_Missense_Mutation_p.V116L|MOB3C_ENST00000319928.3_Missense_Mutation_p.V64L|MKNK1_ENST00000545730.1_Intron			Q70IA8	MOL2C_HUMAN	MOB kinase activator 3C	64							metal ion binding										AAGTCCACCACGTGCACGGCG	0.637000													14	54					4.36969e-10	4.84662e-10	1	1	0
RAB3IP	117177	broad.mit.edu	37	12	70150216	70150216	+	Missense_Mutation	SNP	A	A	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:70150216A>G	ENST00000550536.1	+	3	788	c.331A>G	c.(331-333)Acc>Gcc	p.T111A	RAB3IP_ENST00000483530.2_Missense_Mutation_p.T95A|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Missense_Mutation_p.T95A|RAB3IP_ENST00000362025.5_Missense_Mutation_p.T111A|RAB3IP_ENST00000247833.7_Missense_Mutation_p.T95A	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	111					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)			CCCTTGCTCTACCTCTGGAGT	0.403000													19	29					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136235	40136235	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:40136235G>C	ENST00000278198.2	-	2	3571	c.1608C>G	c.(1606-1608)atC>atG	p.I536M	LRRC4C_ENST00000527150.1_Missense_Mutation_p.I536M|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I536M|LRRC4C_ENST00000530763.1_Missense_Mutation_p.I536M			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	536					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CCATGAGTGTGATGGCCACAA	0.448000													21	27					0	0	1	0	0
TRMT6	51605	broad.mit.edu	37	20	5923241	5923241	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:5923241C>T	ENST00000203001.2	-	7	989	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.E117K	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	287					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						CCATTACTTTCTTCAACCAAA	0.448000													6	35					0	0	1	0	0
C1orf174	339448	broad.mit.edu	37	1	3807550	3807550	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:3807550C>T	ENST00000361605.3	-	3	299	c.201G>A	c.(199-201)gtG>gtA	p.V67V	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	67										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		ATTCTGACTTCACAAGATGTC	0.448000													8	67					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62897274	62897274	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr4:62897274C>G	ENST00000512091.2	+	22	4080	c.3333C>G	c.(3331-3333)ttC>ttG	p.F1111L	LPHN3_ENST00000509896.1_Missense_Mutation_p.F1179L|LPHN3_ENST00000508693.1_Missense_Mutation_p.F1179L|LPHN3_ENST00000507164.1_Missense_Mutation_p.F1170L|LPHN3_ENST00000514996.1_Missense_Mutation_p.F1102L|LPHN3_ENST00000506746.1_Missense_Mutation_p.F1170L|LPHN3_ENST00000506700.1_Missense_Mutation_p.F1102L|LPHN3_ENST00000545650.1_Missense_Mutation_p.F1111L|LPHN3_ENST00000514157.1_Missense_Mutation_p.F1102L|LPHN3_ENST00000514591.1_Missense_Mutation_p.F1111L|LPHN3_ENST00000506720.1_Missense_Mutation_p.F1179L|LPHN3_ENST00000508946.1_Missense_Mutation_p.F1111L|LPHN3_ENST00000504896.1_Missense_Mutation_p.F1111L|LPHN3_ENST00000507625.1_Missense_Mutation_p.F1170L|LPHN3_ENST00000511324.1_Missense_Mutation_p.F1170L			Q9HAR2	LPHN3_HUMAN	latrophilin 3						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						TCACCATTTTCAATTCTCTAC	0.348000													13	9					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21975370	21975370	+	Missense_Mutation	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:21975370C>G	ENST00000382254.1	-	6	1442	c.356G>C	c.(355-357)aGa>aCa	p.R119T	CDH12_ENST00000504376.2_Missense_Mutation_p.R119T|CDH12_ENST00000522262.1_Missense_Mutation_p.R119T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	119	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTTCTCTTCTCTATCTAGGCT	0.478000										HNSCC(59;0.17)			13	80					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27092809	27092809	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:27092809C>T	ENST00000324856.7	+	9	3201	c.2830C>T	c.(2830-2832)Cag>Tag	p.Q944*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q944*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q561*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	944					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Q944*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GATCAACCCTCAGGGACCCCC	0.498000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								50	25					0	0	1	0	0
CXorf57	55086	broad.mit.edu	37	X	105855563	105855563	+	Missense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:105855563G>T	ENST00000372548.4	+	1	362	c.253G>T	c.(253-255)Gac>Tac	p.D85Y	CXorf57_ENST00000372544.2_Missense_Mutation_p.D85Y	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	85										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGCCACGCGACACGGTGCC	0.572000													52	3					8.72198e-27	9.84824e-27	1	1	0
FLT4	2324	broad.mit.edu	37	5	180046741	180046741	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:180046741C>T	ENST00000261937.6	-	18	2649	c.2571G>A	c.(2569-2571)ggG>ggA	p.G857G	FLT4_ENST00000393347.3_Silent_p.G857G|FLT4_ENST00000502649.1_Silent_p.G857G	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	857	Protein kinase.		G -> R (in LMPH1A; loss of kinase activity).		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)	CCACCACCTTCCCGAAGGCGC	0.672000													15	79					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107084704	107084704	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:107084704G>T	ENST00000409886.3	-	1	128	c.41C>A	c.(40-42)tCg>tAg	p.S14*	RGPD3_ENST00000304514.7_Nonsense_Mutation_p.S14*	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	14					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GCCCTGCACCGAGGCGACGTA	0.726000													4	13					0.00909568	0.00929341	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152652943	152652943	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:152652943C>T	ENST00000367255.5	-	78	13478	c.12877G>A	c.(12877-12879)Gaa>Aaa	p.E4293K	SYNE1_ENST00000423061.1_Missense_Mutation_p.E4222K|SYNE1_ENST00000265368.4_Missense_Mutation_p.E4293K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E4222K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E4158K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4293					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)		TTCAGATCTTCAATAGCATAC	0.388000										HNSCC(10;0.0054)			4	23					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51868139	51868139	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:51868139C>T	ENST00000453097.2	+	15	2135	c.1918C>T	c.(1918-1920)Ctg>Ttg	p.L640L	SLC4A8_ENST00000358657.3_Silent_p.L667L|SLC4A8_ENST00000394856.1_Silent_p.L587L|SLC4A8_ENST00000535225.2_Silent_p.L587L|SLC4A8_ENST00000514353.3_Silent_p.L587L	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	640					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CAGGTGTACTCTGCCAGAGAA	0.438000													6	44					0	0	1	0	0
GART	2618	broad.mit.edu	37	21	34897137	34897137	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr21:34897137C>T	ENST00000381831.3	-	11	1500	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	GART_ENST00000381839.3_Missense_Mutation_p.E413K|GART_ENST00000381815.4_Missense_Mutation_p.E413K|GART_ENST00000361093.5_Missense_Mutation_p.E413K	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	413					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATTGCTCCCTCAAACTTTATA	0.468000													5	89					0	0	1	0	0
NINL	22981	broad.mit.edu	37	20	25472002	25472002	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr20:25472002C>T	ENST00000278886.6	-	11	1543	c.1470G>A	c.(1468-1470)ctG>ctA	p.L490L	NINL_ENST00000422516.1_Silent_p.L490L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	490					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						GGGCCAGGGTCAGCTTCTCGC	0.677000													4	56					0	0	1	0	0
IGFBP4	3487	broad.mit.edu	37	17	38609277	38609277	+	Silent	SNP	C	C	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:38609277C>G	ENST00000269593.4	+	2	665	c.390C>G	c.(388-390)ccC>ccG	p.P130P	IGFBP4_ENST00000542955.1_Silent_p.P30P	NM_001552.2	NP_001543.2	P22692	IBP4_HUMAN	insulin-like growth factor binding protein 4	130					DNA metabolic process|signal transduction|skeletal system development					NS(1)|endometrium(1)|kidney(1)|large_intestine(2)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTTCAGCCCCTGTAGCGCCC	0.597000													12	203					0	0	1	0	0
HIST1H2BN	8341	broad.mit.edu	37	6	27806606	27806606	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:27806606C>T	ENST00000606613.1	+	1	228	c.167C>T	c.(166-168)tCg>tTg	p.S56L	HIST1H2BN_ENST00000396980.3_Missense_Mutation_p.S56L			Q99877	H2B1N_HUMAN	histone cluster 1, H2bn	56					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(3)|lung(3)|prostate(1)	8						ACCGGTATCTCGTCCAAGGCC	0.597000													36	386					0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7804619	7804619	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr17:7804619G>A	ENST00000380358.4	+	20	3356	c.3355G>A	c.(3355-3357)Ggg>Agg	p.G1119R	CHD3_ENST00000358181.4_Missense_Mutation_p.G1060R|CHD3_ENST00000330494.7_Missense_Mutation_p.G1060R	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1060	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TAAGTCGTCTGGGAAGCTCAT	0.552000													12	67					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891396	6891396	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr11:6891396C>T	ENST00000307322.4	+	1	473	c.411C>T	c.(409-411)ttC>ttT	p.F137F		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	137					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)		CCTCCTGGTTCCCAGGCTTTC	0.537000													66	110					0	0	1	0	0
SVOP	55530	broad.mit.edu	37	12	109306434	109306434	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:109306434C>T	ENST00000299134.5	-	14	1327	c.1328G>A	c.(1327-1329)tGc>tAc	p.C443Y		NM_018711.2	NP_061181.1	Q8N4V2	SVOP_HUMAN	SV2 related protein homolog (rat)	0						cell junction|integral to membrane|synaptic vesicle membrane	ion transmembrane transporter activity			breast(2)|lung(4)	6						TCTCAATGGGCAAAAAGCAGG	0.607000													40	61					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530511	80530511	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:80530511G>A	ENST00000295057.3	-	2	1090	c.434C>T	c.(433-435)tCg>tTg	p.S145L	LRRTM1_ENST00000409148.1_Missense_Mutation_p.S145L|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000466387.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	145						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTTGTTGTACGAGAGGTCCAC	0.632000										HNSCC(69;0.2)			31	49					0	0	1	0	0
SYP	6855	broad.mit.edu	37	X	49050783	49050783	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:49050783C>T	ENST00000263233.4	-	4	335	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	SYP_ENST00000538567.1_5'UTR|SYP_ENST00000479808.1_Missense_Mutation_p.R88Q	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	88	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				GGTGCCCCCTCGGCAGGTGGG	0.592000													21	21					0	0	1	0	0
HHIP	64399	broad.mit.edu	37	4	145581085	145581085	+	Missense_Mutation	SNP	G	G	C			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr4:145581085G>C	ENST00000434550.2	+	4	1430	c.926G>C	c.(925-927)aGa>aCa	p.R309T	HHIP_ENST00000296575.3_Intron|HHIP-AS1_ENST00000512359.1_RNA			Q96QV1	HHIP_HUMAN	hedgehog interacting protein	0						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		TGTAATAAAAGAAAGAATCTT	0.299000													4	4					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179290728	179290728	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:179290728G>A	ENST00000356834.3	-	22	3510	c.3473C>T	c.(3472-3474)tCg>tTg	p.S1158L	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.S1141L|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.S317L|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.S299L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1158						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTGACCACCGAGTAGGAGGA	0.662000													27	58					0	0	1	0	0
OR2B2	81697	broad.mit.edu	37	6	27879041	27879041	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr6:27879041G>A	ENST00000303324.2	-	1	1133	c.1057C>T	c.(1057-1059)Caa>Taa	p.Q353*		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	353					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AATTTTCTTTGAGGGAGATTA	0.358000													8	14					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172351622	172351622	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:172351622G>A	ENST00000475381.1	-	5	1103	c.870C>T	c.(868-870)tcC>tcT	p.S290S	NCEH1_ENST00000543711.1_Silent_p.S157S|NCEH1_ENST00000273512.3_Silent_p.S322S|NCEH1_ENST00000538775.1_Silent_p.S330S			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	290					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						CAGGCAAGAGGGATGTCCAGT	0.507000													46	24					0	0	1	0	0
TSC22D2	9819	broad.mit.edu	37	3	150127842	150127842	+	Silent	SNP	G	G	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:150127842G>T	ENST00000361875.3	+	1	1721	c.705G>T	c.(703-705)gcG>gcT	p.A235A	TSC22D2_ENST00000361136.2_Silent_p.A235A	NM_014779.2	NP_055594.1	O75157	T22D2_HUMAN	TSC22 domain family, member 2								sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGCAGGGGGCGCACGGGCCCG	0.647000													19	118					3.51602e-12	3.91131e-12	1	1	0
CHPF2	54480	broad.mit.edu	37	7	150932442	150932442	+	Missense_Mutation	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:150932442G>A	ENST00000035307.2	+	2	2085	c.572G>A	c.(571-573)cGc>cAc	p.R191H	CHPF2_ENST00000495645.1_Missense_Mutation_p.R183H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	191						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CAGGCCCCCCGCCTGGCAGCC	0.597000													43	121					0	0	1	0	0
URGCP	55665	broad.mit.edu	37	7	43918318	43918318	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:43918318C>T	ENST00000336086.6	-	4	2851	c.615G>A	c.(613-615)ggG>ggA	p.G205G	URGCP_ENST00000223341.7_Silent_p.G205G|URGCP_ENST00000402306.3_Silent_p.G239G|URGCP_ENST00000497914.1_5'UTR|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Silent_p.G205G|URGCP_ENST00000443736.1_Silent_p.G205G|URGCP_ENST00000453200.1_Silent_p.G248G			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	248					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						CCCGGAAGCTCCCCATGCCCC	0.617000													9	41					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91776267	91776267	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr14:91776267C>T	ENST00000389857.6	-	16	2886	c.2800G>A	c.(2800-2802)Gaa>Aaa	p.E934K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	934					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TTCTCCAGTTCCTGGCTCAGC	0.607000													8	14					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946169	66946169	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr16:66946169C>T	ENST00000299752.4	-	12	1717	c.1524G>A	c.(1522-1524)ggG>ggA	p.G508G	CDH16_ENST00000565796.1_Silent_p.G508G|CDH16_ENST00000568632.1_Silent_p.G411G|CDH16_ENST00000570262.1_Silent_p.G428G|CDH16_ENST00000394055.3_Silent_p.G508G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	508	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCTAACATGCCCAGAGTCTG	0.592000													8	35					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86257321	86257321	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr2:86257321C>T	ENST00000263857.6	-	31	5155	c.4777G>A	c.(4777-4779)Gag>Aag	p.E1593K	POLR1A_ENST00000409681.1_Missense_Mutation_p.E1532K			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1593					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGTCTTACCTCTGCATACTTG	0.512000													25	37					0	0	1	0	0
C9orf96	169436	broad.mit.edu	37	9	136263158	136263158	+	Silent	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr9:136263158C>T	ENST00000371957.3	+	11	1164	c.1057C>T	c.(1057-1059)Ctg>Ttg	p.L353L	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	353							ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAAGAGGCTTCTGAAAATGCC	0.607000													4	25					0	0	1	0	0
CILP	8483	broad.mit.edu	37	15	65490152	65490152	+	Silent	SNP	G	G	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr15:65490152G>A	ENST00000261883.4	-	9	2638	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	824					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						GGCTTGCCAAGACATAGGCAG	0.572000													4	57					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5460852	5460852	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:5460852C>T	ENST00000296564.7	+	13	1627	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	469										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						CACAGCATCTCGATCCATGAG	0.413000													3	26					0	0	1	0	0
FAM86DP	692099	broad.mit.edu	37	3	75475685	75475685	+	RNA	SNP	A	A	G	rs11128433	by1000genomes	TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr3:75475685A>G	ENST00000459803.1	-	0	844					NR_024241.1																						TGGTGCTCCCAGCAGGCAGCC	0.602000													6	67					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180046731	180046731	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:180046731C>T	ENST00000261937.6	-	18	2659	c.2581G>A	c.(2581-2583)Gaa>Aaa	p.E861K	FLT4_ENST00000393347.3_Missense_Mutation_p.E861K|FLT4_ENST00000502649.1_Missense_Mutation_p.E861K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	861	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)	GCGGAGGCTTCCACCACCTTC	0.662000													15	86					0	0	1	0	0
ANKRD55	79722	broad.mit.edu	37	5	55407419	55407419	+	Missense_Mutation	SNP	C	C	T			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:55407419C>T	ENST00000341048.4	-	10	1307	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	ANKRD55_ENST00000434982.2_Missense_Mutation_p.D98N|ANKRD55_ENST00000505970.2_5'UTR|ANKRD55_ENST00000504958.2_Missense_Mutation_p.D343N	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	385										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACGATGCTATCAAAGGTGGTG	0.458000													27	136					0	0	1	0	0
MED8	112950	broad.mit.edu	37	1	43850725	43850725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:43850725delG	ENST00000372457.4	-	7	838	c.795delC	c.(793-795)cccfs	p.P265fs	MED8_ENST00000372455.4_Frame_Shift_Del_p.P176fs|MED8_ENST00000290663.6_Frame_Shift_Del_p.P265fs	NM_001001653.2|NM_201542.3	NP_001001653.1|NP_963836.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	265					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGCTGGTAGGGATGCATGG	0.463													2	4	---	---	---	---					
OR2T4	127074	broad.mit.edu	37	1	248525029	248525036	+	Frame_Shift_Del	DEL	CTTCAGAC	CTTCAGAC	-			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr1:248525029_248525036delCTTCAGAC	ENST00000366475.1	+	1	147_154	c.147_154delCTTCAGAC	c.(145-156)ctcttcagacaafs	p.FRQ50fs		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	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)			TGTTGGGACTCTTCAGACAATCCAAACA	0.471													8	140	---	---	---	---					
FAM177A1P1	728710	broad.mit.edu	37	4	99877753	99877754	+	RNA	DEL	AA	AA	-	rs33952764		TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr4:99877753_99877754delAA	ENST00000583654.1	+	0	237																											actctgtctcaaaaaaaaaaaa	0.450													3	3	---	---	---	---					
SRFBP1	153443	broad.mit.edu	37	5	121356129	121356130	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr5:121356129_121356130insA	ENST00000339397.4	+	6	771_772	c.699_700insA	c.(700-702)aaafs	p.K234fs		NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	serum response factor binding protein 1	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		TAAGTCAAACCAAAAAAAACAA	0.401													8	33	---	---	---	---					
NOS3	4846	broad.mit.edu	37	7	150698398	150698398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr7:150698398delG	ENST00000297494.3	+	11	1670	c.1313delG	c.(1312-1314)aggfs	p.R438fs	NOS3_ENST00000461406.1_Frame_Shift_Del_p.R232fs|NOS3_ENST00000467517.1_Frame_Shift_Del_p.R438fs|NOS3_ENST00000484524.1_Frame_Shift_Del_p.R438fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	438	Interaction with NOSIP.				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)	CAGAAGGCCAGGGGGGGCTGC	0.617													32	61	---	---	---	---					
FZD3	7976	broad.mit.edu	37	8	28385255	28385255	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr8:28385255delG	ENST00000240093.3	+	5	1456	c.978delG	c.(976-978)aagfs	p.K327fs	FZD3_ENST00000537916.1_Frame_Shift_Del_p.K327fs	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled family receptor 3	327					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CTATTGAGAAGAAAGCATTGC	0.433													9	22	---	---	---	---					
ETV6	2120	broad.mit.edu	37	12	12043913	12043914	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr12:12043913_12043914insA	ENST00000396373.4	+	8	1566_1567	c.1292_1293insA	c.(1291-1296)acagacfs	p.D432fs		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	432						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AGTGGCCGAACAGACCGTCTGG	0.480			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""								42	125	---	---	---	---					
CEACAM20	125931	broad.mit.edu	37	19	45029322	45029322	+	RNA	DEL	G	G	-			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:45029322delG	ENST00000454753.1	-	0	331							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GAGGTGTGTTGGGGGTTGCCC	0.582													29	14	---	---	---	---					
SIGLEC9	27180	broad.mit.edu	37	19	51628955	51628955	+	Frame_Shift_Del	DEL	C	C	-			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chr19:51628955delC	ENST00000440804.3	+	2	590	c.523delC	c.(523-525)cccfs	p.P176fs	SIGLEC9_ENST00000250360.3_Frame_Shift_Del_p.P176fs	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	176	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	p.P175T(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCAGGGGACACCCCCTATGAT	0.662													42	119	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44922786	44922787	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GU-A42P-01A-11D-A23U-08	TCGA-GU-A42P-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c50b0d-0c5f-4d9b-8ce9-7d7b28c0d12c	ede0844d-87bc-41b2-8eef-aa3e6d0f2a04	g.chrX:44922786_44922787insG	ENST00000377967.4	+	16	1688_1689	c.1647_1648insG	c.(1648-1650)gtgfs	p.V550fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.V557fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.V471fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.V505fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	550					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTCTGACCAGAGTGCCTAGCGT	0.564			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								56	4	---	---	---	---