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
KNTC1	9735	broad.mit.edu	37	12	123087269	123087269	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr12:123087269A>C	ENST00000333479.7	+	46	4984	c.4807A>C	c.(4807-4809)Aac>Cac	p.N1603H	KNTC1_ENST00000537348.1_Missense_Mutation_p.N28H|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1603					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding	p.N1603H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		CACAGCACAGAACTTCTGGAA	0.353000													7	36					0	0	1	0	0
KIAA1462	57608	broad.mit.edu	37	10	30316110	30316110	+	Silent	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr10:30316110G>C	ENST00000375377.1	-	3	3068	c.2967C>G	c.(2965-2967)ccC>ccG	p.P989P		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	989								p.P989P(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GATAGGACGCGGGCAGTGGTT	0.532000													37	94					0	0	1	0	0
HLA-C	3107	broad.mit.edu	37	6	31239513	31239513	+	Missense_Mutation	SNP	C	C	T	rs41548913		TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:31239513C>T	ENST00000383329.3	-	2	220	c.206G>A	c.(205-207)gGg>gAg	p.G69E	HLA-C_ENST00000376228.5_Missense_Mutation_p.G69E			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	69	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex		p.G69E(5)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						CCGCGGCTCCCCTCTCGGACT	0.697000													4	59					0	0	1	0	0
GALNT8	26290	broad.mit.edu	37	12	4872541	4872541	+	Silent	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr12:4872541C>T	ENST00000252318.2	+	8	1819	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	494						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.I494I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCCACACCATCGTGGGCTATG	0.413000													29	64					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	by1000genomes	TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672000													3	58					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168104901	168104901	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:168104901G>A	ENST00000409195.1	+	9	7088	c.6999G>A	c.(6997-6999)aaG>aaA	p.K2333K	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Silent_p.K2333K|XIRP2_ENST00000409273.1_Silent_p.K2111K|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2158					actin cytoskeleton organization	cell junction	actin binding	p.K2333K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CCACAGAGAAGATAAAGGCTG	0.433000													31	80					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2813050	2813050	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr16:2813050C>T	ENST00000301740.8	+	11	3070	c.2521C>T	c.(2521-2523)Cat>Tat	p.H841Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	841	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.H841Y(1)		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						TTCATCTCCTCATCCTAAAGT	0.493000													43	102					0	0	1	0	0
BBS1	582	broad.mit.edu	37	11	66282099	66282099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr11:66282099C>T	ENST00000419755.3	+	4	571	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	BBS1_ENST00000393994.2_Nonsense_Mutation_p.Q128*|BBS1_ENST00000455748.2_Nonsense_Mutation_p.Q128*|BBS1_ENST00000537537.1_Silent_p.P31P|BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000318312.7_Nonsense_Mutation_p.Q128*														p.Q128*(1)									CAGCCTGCCCCAATTGCCTCC	0.507000													6	79					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99895199	99895199	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:99895199T>G	ENST00000421999.2	+	9	842	c.696T>G	c.(694-696)ttT>ttG	p.F232L	CMSS1_ENST00000489081.1_Missense_Mutation_p.F214L	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)									p.F232L(1)									CCTTAAAATTTCTGGTTTTTG	0.388000													9	22					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682674	50682674	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr22:50682674A>G	ENST00000439308.2	-	1	707	c.215T>C	c.(214-216)aTg>aCg	p.M72T	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.M72T	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	72					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	p.M72T(1)		breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		AAAGGACAACATGAGGATCTT	0.517000													34	35					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150869297	150869297	+	Missense_Mutation	SNP	G	G	C	rs139807152	byFrequency	TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chrX:150869297G>C	ENST00000370353.3	+	4	878	c.488G>C	c.(487-489)cGg>cCg	p.R163P	PRRG3_ENST00000538575.1_Missense_Mutation_p.R163P			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	163						extracellular region|integral to membrane	calcium ion binding	p.R163P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCCAGTCGGGGGGGCAGG	0.672000													18	14					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117672562	117672562	+	Splice_Site	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr12:117672562G>A	ENST00000317775.6	-	21	3728	c.3041_splice	c.e21-1	p.R1015_splice	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Splice_Site_p.R1049_splice	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1015	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R1015W(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATAGTTGACCGACTGCAGGAA	0.552000													4	24					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44051074	44051074	+	Silent	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:44051074G>T	ENST00000543989.1	-	5	1822	c.117C>A	c.(115-117)ggC>ggA	p.G39G	ABCG5_ENST00000260645.1_Silent_p.G434G|ABCG5_ENST00000405322.1_Silent_p.G263G			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	434					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.G434G(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGTTCAGCATGCCTGTGTACG	0.527000													5	37					0.0477658	0.0491463	1	1	0
NUFIP2	57532	broad.mit.edu	37	17	27613317	27613317	+	Silent	SNP	G	G	A	rs150088850		TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr17:27613317G>A	ENST00000225388.4	-	2	1753	c.1695C>T	c.(1693-1695)taC>taT	p.Y565Y	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	565						nucleus|polysomal ribosome	protein binding|RNA binding	p.Y565Y(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TCTCCAGCTCGTAAGCCTTGG	0.463000													7	53					0	0	1	0	0
METTL4	64863	broad.mit.edu	37	18	2567170	2567170	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr18:2567170G>C	ENST00000319888.6	-	2	844	c.46C>G	c.(46-48)Ctt>Gtt	p.L16V	METTL4_ENST00000574538.1_Missense_Mutation_p.L16V			Q8N3J2	METL4_HUMAN	methyltransferase like 4	16					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		methyltransferase activity|nucleic acid binding	p.L16V(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ATAAAAGAAAGATGATCCAGT	0.393000													23	33					0	0	1	0	0
URB2	9816	broad.mit.edu	37	1	229771675	229771675	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:229771675G>A	ENST00000258243.2	+	4	1451	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	439						nucleolus		p.E439K(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						GATCGATGCCGAGGTAACAGA	0.498000													30	71					0	0	1	0	0
AGFG2	3268	broad.mit.edu	37	7	100159952	100159952	+	Silent	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr7:100159952C>T	ENST00000300176.4	+	7	1070	c.948C>T	c.(946-948)gaC>gaT	p.D316D	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	316					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.D316D(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCTCGCAGACGTGGGCAGCT	0.637000													7	31					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101163595	101163595	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr10:101163595G>C	ENST00000370508.5	-	6	706	c.679C>G	c.(679-681)Cag>Gag	p.Q227E	GOT1_ENST00000543866.1_Missense_Mutation_p.Q206E	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	227					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.Q227E(1)|p.Q227*(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCGAAGCCCTGATAGGCTGAG	0.542000													12	31					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106431460	106431460	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:106431460G>C	ENST00000407775.2	+	2	379	c.129G>C	c.(127-129)gaG>gaC	p.E43D	ZFPM2_ENST00000520492.1_5'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	43					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.E43D(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TTCCATTGGAGGAAAGCTTTT	0.408000													14	45					0	0	1	0	0
ITGA10	8515	broad.mit.edu	37	1	145535838	145535838	+	Silent	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:145535838C>T	ENST00000369304.3	+	16	2201	c.2026C>T	c.(2026-2028)Ctg>Ttg	p.L676L	ITGA10_ENST00000539363.1_Silent_p.L533L|ITGA10_ENST00000538811.1_Silent_p.L545L	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	676					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity	p.L676L(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGCAGTCTGTCTGACTGCAGC	0.557000													44	66					0	0	1	0	0
HOXB5	3215	broad.mit.edu	37	17	46671010	46671010	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr17:46671010C>A	ENST00000239151.5	-	1	313	c.35G>T	c.(34-36)cGt>cTt	p.R12L	HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	12						nucleus	sequence-specific DNA binding	p.R12L(1)		large_intestine(1)|lung(2)	3						ATTTGGATAACGCCCCGAGAA	0.502000													3	65					1	1	1	1	0
REPS1	85021	broad.mit.edu	37	6	139241422	139241422	+	Silent	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:139241422C>A	ENST00000450536.2	-	12	2032	c.1458G>T	c.(1456-1458)gtG>gtT	p.V486V	REPS1_ENST00000258062.5_Silent_p.V486V|REPS1_ENST00000415951.2_Silent_p.V459V|REPS1_ENST00000367663.4_Silent_p.V459V|REPS1_ENST00000409812.2_Silent_p.V459V			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	486						coated pit|plasma membrane	calcium ion binding|SH3 domain binding	p.V434V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CAGATGGTTTCACAAGTAATG	0.318000													16	72					6.94344e-10	8.23955e-10	1	1	0
GPR98	84059	broad.mit.edu	37	5	89923136	89923136	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr5:89923136A>T	ENST00000405460.2	+	7	877	c.781A>T	c.(781-783)Agt>Tgt	p.S261C		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	261					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.S261C(1)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAAAAATGATAGTCCCGTGAG	0.353000													22	64					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105692426	105692426	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr14:105692426A>C	ENST00000546474.1	-	10	15987	c.1028T>G	c.(1027-1029)cTg>cGg	p.L343R	BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.L228R|BRF1_ENST00000327359.3_Missense_Mutation_p.L228R|BRF1_ENST00000392557.4_Missense_Mutation_p.L139R|BRF1_ENST00000379937.2_Missense_Mutation_p.L316R|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000446501.2_Missense_Mutation_p.L105R	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	343					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding	p.L228R(1)|p.L343R(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGGCTGGCCAGGCCCCCCTT	0.468000													15	65					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71795381	71795381	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:71795381C>T	ENST00000258104.3	+	26	3000	c.2723C>T	c.(2722-2724)aCg>aTg	p.T908M	DYSF_ENST00000409744.1_Missense_Mutation_p.T895M|DYSF_ENST00000394120.2_Missense_Mutation_p.T909M|DYSF_ENST00000409762.1_Missense_Mutation_p.T925M|DYSF_ENST00000409651.1_Missense_Mutation_p.T940M|DYSF_ENST00000429174.2_Missense_Mutation_p.T908M|DYSF_ENST00000413539.2_Missense_Mutation_p.T939M|DYSF_ENST00000409582.3_Missense_Mutation_p.T925M|DYSF_ENST00000410020.3_Missense_Mutation_p.T926M|DYSF_ENST00000410041.1_Missense_Mutation_p.T926M|DYSF_ENST00000409366.1_Missense_Mutation_p.T909M	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	908						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	p.T908M(1)|p.T926M(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TCTGACGTCACGGGCAAGATC	0.592000													11	346					0	0	1	0	0
GINS4	84296	broad.mit.edu	37	8	41387758	41387758	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:41387758G>A	ENST00000523277.2	+	2	204	c.37G>A	c.(37-39)Gat>Aat	p.D13N	GINS4_ENST00000518671.1_Missense_Mutation_p.D13N|GINS4_ENST00000520710.1_Missense_Mutation_p.D13N|GINS4_ENST00000276533.3_Missense_Mutation_p.D13N			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	13					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm		p.D13N(1)		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)			ACAGGACTCTGATGGGGGTAG	0.478000													17	52					0	0	1	0	0
ZNF473	25888	broad.mit.edu	37	19	50548183	50548183	+	Silent	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr19:50548183C>T	ENST00000595661.1	+	6	978	c.483C>T	c.(481-483)acC>acT	p.T161T	CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000445728.3_Silent_p.T149T|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000391821.2_Silent_p.T161T|ZNF473_ENST00000270617.3_Silent_p.T161T			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	161					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	p.T161T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CTGTGTCCACCGTTTCCACGG	0.468000													3	63					0	0	1	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79058500	79058500	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr15:79058500G>A	ENST00000388820.4	-	19	3963	c.3753C>T	c.(3751-3753)tcC>tcT	p.S1251S		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1251					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.S1251S(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GACTAGGAGAGGAGTGGGTGC	0.662000													15	33					0	0	1	0	0
CD72	971	broad.mit.edu	37	9	35611857	35611857	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr9:35611857C>A	ENST00000396757.1	-	8	1058	c.894G>T	c.(892-894)tgG>tgT	p.W298C	CD72_ENST00000259633.4_Missense_Mutation_p.W298C|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	298	C-type lectin.				axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity	p.W298C(1)		large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGGCCAGTCCAATATGAAT	0.433000											OREG0019172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	24					5.03518e-11	6.05583e-11	1	1	0
ALPK2	115701	broad.mit.edu	37	18	56246449	56246449	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr18:56246449A>C	ENST00000361673.3	-	4	1772	c.1559T>G	c.(1558-1560)gTg>gGg	p.V520G		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	520							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTTTCCCCCCACTCTCTTGTC	0.522000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	109					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27066581	27066581	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr12:27066581G>A	ENST00000261191.7	-	14	2150	c.1614C>T	c.(1612-1614)acC>acT	p.T538T	ASUN_ENST00000539625.1_Silent_p.T437T	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	538					cell division|mitosis|regulation of mitotic cell cycle		protein binding	p.T538T(1)									CTCTGACAAGGGTTTCTAATT	0.393000													66	206					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310358	124310358	+	Silent	SNP	A	A	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr11:124310358A>C	ENST00000328064.2	-	1	696	c.624T>G	c.(622-624)ggT>ggG	p.G208G		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G208G(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CTGTGGGCACACCAATATCAA	0.488000													16	25					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80869217	80869217	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr15:80869217G>A	ENST00000533983.1	+	16	1830	c.1491G>A	c.(1489-1491)aaG>aaA	p.K497K	ARNT2_ENST00000303329.4_Silent_p.K508K|ARNT2_ENST00000527771.1_Silent_p.K497K			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	508					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K508K(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CGGAGAAGAAGATGATGAGCT	0.582000													27	68					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													4	123					0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109872885	109872885	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr12:109872885G>A	ENST00000310903.5	+	21	2165	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	MYO1H_ENST00000431443.2_Missense_Mutation_p.E697K			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity	p.E687K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GTTTGCTACCGAAGATGCCTT	0.348000													11	21					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84605787	84605787	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr9:84605787G>C	ENST00000344803.2	+	4	449	c.402G>C	c.(400-402)aaG>aaC	p.K134N		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1									p.K134N(2)									GGGTGTGTAAGAGAGCAACTG	0.552000													12	15					0	0	1	0	0
SLC18A3	6572	broad.mit.edu	37	10	50818879	50818879	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr10:50818879G>A	ENST00000374115.3	+	1	533	c.93G>A	c.(91-93)caG>caA	p.Q31Q	CHAT_ENST00000339797.1_Intron	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	31					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.Q31Q(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						CCCGGCGGCAGAGGCGCCTGG	0.677000													3	13					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88847483	88847483	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr7:88847483G>C	ENST00000333190.4	+	2	732	c.123G>C	c.(121-123)aaG>aaC	p.K41N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	41						intracellular	zinc ion binding	p.K41N(2)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTGCAGAAAAGAAGTCCACAG	0.343000										HNSCC(36;0.09)			3	33					0	0	1	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184596357	184596357	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr4:184596357G>T	ENST00000334690.6	+	7	903	c.701G>T	c.(700-702)aGt>aTt	p.S234I	TRAPPC11_ENST00000357207.4_Missense_Mutation_p.S234I|TRAPPC11_ENST00000511409.1_3'UTR	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN	trafficking protein particle complex 11	234								p.S234I(1)									GCTTTCTTCAGTGAGTTGAAA	0.249000													7	7					0.00448238	0.00474919	1	1	0
RANGAP1	5905	broad.mit.edu	37	22	41652800	41652800	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr22:41652800A>C	ENST00000455915.2	-	7	2272	c.803T>G	c.(802-804)gTg>gGg	p.V268G	RANGAP1_ENST00000405486.1_Missense_Mutation_p.V268G|RANGAP1_ENST00000407260.4_Missense_Mutation_p.V213G|RANGAP1_ENST00000356244.3_Missense_Mutation_p.V268G			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	268					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	p.V268G(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAATTAATCACCTCCACCTG	0.637000													6	9					0	0	1	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719904	48719904	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:48719904G>A	ENST00000294129.2	-	3	482	c.363C>T	c.(361-363)acC>acT	p.T121T	NCKIPSD_ENST00000341520.4_Silent_p.T121T|NCKIPSD_ENST00000416649.2_Silent_p.T121T	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	121					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	p.T121T(2)		endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGTGGTCACTGGTTGATGAGG	0.582000													3	51					0	0	1	0	0
GTF3C1	2975	broad.mit.edu	37	16	27481580	27481580	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr16:27481580C>T	ENST00000356183.4	-	31	4678	c.4663G>A	c.(4663-4665)Gac>Aac	p.D1555N	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1555N	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1555						transcription factor TFIIIC complex	DNA binding|protein binding	p.D1555N(1)		breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCACCATGTCGTTTGTGGGC	0.537000													28	102					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777216	201777216	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:201777216G>A	ENST00000367296.4	+	18	4204	c.3784G>A	c.(3784-3786)Gag>Aag	p.E1262K	NAV1_ENST00000367302.1_Missense_Mutation_p.E1215K|NAV1_ENST00000367300.3_Missense_Mutation_p.E1202K|NAV1_ENST00000367297.4_Missense_Mutation_p.E1254K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.E1259K|NAV1_ENST00000367295.1_Missense_Mutation_p.E868K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1262					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	p.E1259K(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TGGTTCTACAGAGACTGCTTC	0.557000													27	48					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159660620	159660620	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:159660620C>A	ENST00000297267.9	+	14	4452	c.4252C>A	c.(4252-4254)Ctg>Atg	p.L1418M	FNDC1_ENST00000340366.6_Missense_Mutation_p.L1355M	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1418						extracellular region		p.L1418M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TGGCACACCTCTGGCCAATGC	0.537000													5	3					0.184627	0.18567	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11100021	11100021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr19:11100021C>T	ENST00000358026.2	+	7	1431	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	SMARCA4_ENST00000344626.4_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000541122.2_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000450717.3_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000589677.1_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000413806.3_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000590574.1_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000444061.3_Nonsense_Mutation_p.Q383*|SMARCA4_ENST00000429416.3_Nonsense_Mutation_p.Q383*	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	383					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.Q383*(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACACCGAATTCAGGAACTTGA	0.602000			"""F, N, Mis"""		NSCLC								11	40					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30409150	30409150	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr16:30409150C>G	ENST00000320159.2	+	2	955	c.579C>G	c.(577-579)atC>atG	p.I193M		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I193M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GCCCCACTATCTGTGGTGAAT	0.592000													10	29					0	0	1	0	0
LPPR4	9890	broad.mit.edu	37	1	99764596	99764596	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:99764596C>T	ENST00000370185.3	+	4	1041	c.544C>T	c.(544-546)Cat>Tat	p.H182Y	LPPR4_ENST00000370184.1_Missense_Mutation_p.H24Y|LPPR4_ENST00000457765.1_Missense_Mutation_p.H182Y	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		182							phosphatidate phosphatase activity	p.H182Y(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TATAGGTGTTCATGTATTTGG	0.348000													11	32					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101874279	101874279	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:101874279G>A	ENST00000289382.3	+	2	704	c.541G>A	c.(541-543)Gaa>Aaa	p.E181K		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11									p.E181K(1)									AACTCCACCAGAAAAGTTTTT	0.413000													21	47					0	0	1	0	0
MAP3K13	9175	broad.mit.edu	37	3	185146488	185146488	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:185146488C>A	ENST00000265026.3	+	2	453	c.119C>A	c.(118-120)cCc>cAc	p.P40H	MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000443863.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000424227.1_Missense_Mutation_p.P40H	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	40					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	p.P40H(2)		NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			CACCCTTCTCCCAAGCTGCTC	0.532000													3	27					0.115264	0.117914	1	1	0
DNAH9	1770	broad.mit.edu	37	17	11631220	11631220	+	Nonsense_Mutation	SNP	T	T	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr17:11631220T>A	ENST00000262442.3	+	28	5863	c.5795T>A	c.(5794-5796)tTg>tAg	p.L1932*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.L1932*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1932	AAA 1 (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	p.L1932*(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTGGAGGTCTTGTCAGTGGTG	0.493000													12	15					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90660737	90660737	+	Missense_Mutation	SNP	T	T	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:90660737T>A	ENST00000257749.4	-	7	1795	c.1088A>T	c.(1087-1089)cAc>cTc	p.H363L	BACH2_ENST00000343122.3_Missense_Mutation_p.H363L|BACH2_ENST00000537989.1_Missense_Mutation_p.H363L|RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	363						nucleus	protein dimerization activity|sequence-specific DNA binding	p.H363L(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCTGGCAAAGTGCTGCTGAGA	0.547000													13	28					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216405452	216405452	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:216405452T>C	ENST00000366943.2	-	14	3222	c.2836A>G	c.(2836-2838)Act>Gct	p.T946A	USH2A_ENST00000307340.3_Missense_Mutation_p.T946A|USH2A_ENST00000366942.3_Missense_Mutation_p.T946A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	946	Laminin EGF-like 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T946A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGGCAGCCAGTGGCATTGCCT	0.358000										HNSCC(13;0.011)			29	50					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7612605	7612605	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr7:7612605G>A	ENST00000340080.4	+	4	920	c.499G>A	c.(499-501)Gaa>Aaa	p.E167K	MIOS_ENST00000405785.1_Missense_Mutation_p.E167K	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	167								p.E167K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCAGCAGGTGAAACTGAAAC	0.383000													8	48					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814836	106814836	+	Silent	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:106814836G>T	ENST00000407775.2	+	8	2776	c.2526G>T	c.(2524-2526)cgG>cgT	p.R842R	RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.R710R|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Silent_p.R710R|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.R573R|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	842					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding	p.R842R(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			AGTCTGAGCGGACGACCACGT	0.458000													5	9					0.184627	0.18567	1	1	0
OR4D5	219875	broad.mit.edu	37	11	123810836	123810836	+	Silent	SNP	T	T	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr11:123810836T>C	ENST00000307033.2	+	1	587	c.513T>C	c.(511-513)ccT>ccC	p.P171P		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P171P(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCTGTGGGCCTGACAAGCTGG	0.488000													4	86					0	0	1	0	0
CRISP3	10321	broad.mit.edu	37	6	49704133	49704133	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:49704133A>T	ENST00000433368.2	-	3	298	c.229T>A	c.(229-231)Tct>Act	p.S77T	CRISP3_ENST00000423399.2_Intron|CRISP3_ENST00000371159.4_Missense_Mutation_p.S85T|CRISP3_ENST00000263045.4_Missense_Mutation_p.S67T|CRISP3_ENST00000393666.1_Missense_Mutation_p.S54T	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	54					innate immune response	proteinaceous extracellular matrix|specific granule		p.S54T(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GCAGGGGGAGATACTGCTCTC	0.463000													11	99					0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14542654	14542654	+	Silent	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr18:14542654C>A	ENST00000358970.5	-	1	491	c.492G>T	c.(490-492)acG>acT	p.T164T	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	164								p.T164T(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGTTCATGTCCGTGTCCCTGA	0.592000													4	100					0.00909568	0.00952371	1	1	0
THOP1	7064	broad.mit.edu	37	19	2813150	2813150	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr19:2813150G>T	ENST00000307741.6	+	13	2149	c.1946G>T	c.(1945-1947)gGc>gTc	p.G649V	THOP1_ENST00000586677.1_Missense_Mutation_p.G528V|THOP1_ENST00000395212.4_Missense_Mutation_p.G218V	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	649					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.G649F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGAGACCCGGCGGTTCCGAG	0.677000													8	12					1.12685e-05	1.24583e-05	1	1	0
PCGF6	84108	broad.mit.edu	37	10	105108755	105108755	+	Splice_Site	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr10:105108755C>A	ENST00000369847.3	-	2	429	c.360_splice	c.e2-1	p.R121_splice	PCGF6_ENST00000337211.4_Splice_Site_p.R121_splice|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	121					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R121L(2)		autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		ATTAATCAGGCGCTGCAAATA	0.378000													12	37					1.08611e-07	1.26358e-07	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111638039	111638039	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:111638039C>A	ENST00000431670.2	+	4	2251	c.1840C>A	c.(1840-1842)Cag>Aag	p.Q614K	PHLDB2_ENST00000481953.1_Missense_Mutation_p.Q614K|PHLDB2_ENST00000412622.1_Missense_Mutation_p.Q614K|PHLDB2_ENST00000495180.1_Missense_Mutation_p.Q200K|PHLDB2_ENST00000393923.3_Missense_Mutation_p.Q641K|PHLDB2_ENST00000393925.3_Missense_Mutation_p.Q614K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	614						cytoplasm|intermediate filament cytoskeleton|plasma membrane		p.Q614K(2)|p.Q641K(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CATAAATGATCAGATGGATGA	0.378000													16	58					7.07596e-05	7.68e-05	1	1	0
NDUFA8	4702	broad.mit.edu	37	9	124906576	124906576	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr9:124906576C>A	ENST00000373768.3	-	4	604	c.463G>T	c.(463-465)Gag>Tag	p.E155*	NDUFA8_ENST00000537618.1_Intron	NM_014222.2	NP_055037.1	P51970	NDUA8_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 8, 19kDa	155					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.E155*(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					NADH(DB00157)	AGATCTCCCTCGATCTCAGGG	0.542000													17	14					9.16793e-09	1.07361e-08	1	1	0
SLC22A16	85413	broad.mit.edu	37	6	110763563	110763563	+	Missense_Mutation	SNP	G	G	T	rs140212592		TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:110763563G>T	ENST00000368919.3	-	4	1133	c.1067C>A	c.(1066-1068)aCg>aAg	p.T356K	SLC22A16_ENST00000330550.4_Missense_Mutation_p.T322K|SLC22A16_ENST00000439654.1_Missense_Mutation_p.T356K	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	356					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	p.T356K(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TGTCCTTTTCGTAATGCTCCA	0.393000													34	78					5.43694e-19	6.76766e-19	1	1	0
ETS1	2113	broad.mit.edu	37	11	128354828	128354828	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr11:128354828G>A	ENST00000392668.3	-	7	820	c.752C>T	c.(751-753)tCg>tTg	p.S251L	ETS1_ENST00000319397.5_Missense_Mutation_p.S207L|ETS1_ENST00000526145.1_Missense_Mutation_p.S207L|ETS1_ENST00000531611.1_Missense_Mutation_p.S207L|ETS1_ENST00000345075.4_Missense_Mutation_p.S207L|ETS1_ENST00000535549.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	207					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S207L(1)|p.S251L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGAATGACCGAGGGGTAGTC	0.522000													29	24					0	0	1	0	0
CXCR1	3577	broad.mit.edu	37	2	219029334	219029334	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:219029334C>G	ENST00000295683.2	-	2	721	c.601G>C	c.(601-603)Gtg>Ctg	p.V201L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	201					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.V201L(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ATCCGCAACACCATCCGCCAT	0.517000													7	39					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201749556	201749556	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:201749556G>A	ENST00000367296.4	+	4	1654	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	NAV1_ENST00000367302.1_Missense_Mutation_p.E425K|NAV1_ENST00000367300.3_Missense_Mutation_p.E412K|NAV1_ENST00000367297.4_Missense_Mutation_p.E412K|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Missense_Mutation_p.E412K|NAV1_ENST00000367295.1_Missense_Mutation_p.E21K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	412					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	p.E412K(1)		breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TAGCTGGGATGAAAGCAGCTC	0.468000													16	49					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101874347	101874347	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:101874347G>C	ENST00000289382.3	+	2	772	c.609G>C	c.(607-609)caG>caC	p.Q203H		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11									p.Q203H(1)									CGCCTCGCCAGATTGCACTGA	0.493000													29	46					0	0	1	0	0
ZNF48	197407	broad.mit.edu	37	16	30408675	30408675	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr16:30408675C>T	ENST00000320159.2	+	2	480	c.104C>T	c.(103-105)tCt>tTt	p.S35F		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S35F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						AACGTGATTTCTCAGCCGAAT	0.468000													15	54					0	0	1	0	0
MLC1	23209	broad.mit.edu	37	22	50506929	50506929	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr22:50506929G>C	ENST00000311597.5	-	10	1433	c.827C>G	c.(826-828)tCt>tGt	p.S276C	MLC1_ENST00000431262.2_Missense_Mutation_p.S246C|MLC1_ENST00000395876.2_Missense_Mutation_p.S276C|MLC1_ENST00000450140.2_Missense_Mutation_p.S224C|MLC1_ENST00000535444.1_Missense_Mutation_p.S197C|MLC1_ENST00000538737.1_Missense_Mutation_p.S242C|MLC1_ENST00000483836.1_5'UTR	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	276						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity	p.S276C(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		CAGATATCCAGAGGCTGTGAA	0.522000													28	44					0	0	1	0	0
ITGB5	3693	broad.mit.edu	37	3	124578095	124578095	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:124578095G>A	ENST00000296181.4	-	3	651	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W		NM_002213.3	NP_002204.2	P18084	ITB5_HUMAN	integrin, beta 5	119					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity	p.R119W(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TCACCGGGCCGGAGGTTCACG	0.592000													20	55					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116263687	116263687	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:116263687A>G	ENST00000606080.1	-	8	1854	c.1408T>C	c.(1408-1410)Tgg>Cgg	p.W470R	FRK_ENST00000538210.1_Missense_Mutation_p.W328R	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	470	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.W470R(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TCTGCATTCCAGCACTCCAAC	0.418000													29	66					0	0	1	0	0
CD99	4267	broad.mit.edu	37	X	2635666	2635666	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chrX:2635666A>T	ENST00000381192.3	+	3	303	c.121A>T	c.(121-123)Act>Tct	p.T41S	CD99_ENST00000381187.3_Intron|CD99_ENST00000381184.1_Missense_Mutation_p.T41S|CD99_ENST00000482405.2_3'UTR	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	41					cell adhesion	cytoplasm|integral to plasma membrane		p.T41S(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						CAAGAAACCCACTGCAATCCC	0.408000													7	32					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19961408	19961408	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:19961408C>T	ENST00000295824.9	-	3	1074	c.913G>A	c.(913-915)Gaa>Aaa	p.E305K	EFHB_ENST00000344838.4_Missense_Mutation_p.E175K|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	305					signal transduction	proteinaceous extracellular matrix	calcium ion binding	p.E303K(1)|p.E305K(1)		breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AATACTCTTTCTACTCCAGCA	0.343000													18	61					0	0	1	0	0
WIPF1	7456	broad.mit.edu	37	2	175436481	175436481	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:175436481G>A	ENST00000392547.2	-	5	1151	c.1052C>T	c.(1051-1053)cCa>cTa	p.P351L	WIPF1_ENST00000359761.3_Missense_Mutation_p.P351L|WIPF1_ENST00000272746.5_Missense_Mutation_p.P351L|AC018890.6_ENST00000442996.1_RNA|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.P351L|WIPF1_ENST00000409891.1_Missense_Mutation_p.P351L|WIPF1_ENST00000392546.2_Missense_Mutation_p.P351L	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	351	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.P351L(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						TGAACGTCCTGGCGAAGGTAA	0.627000													25	33					0	0	1	0	0
OR2A2	442361	broad.mit.edu	37	7	143807577	143807577	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr7:143807577A>C	ENST00000408979.2	+	1	971	c.902A>C	c.(901-903)cAc>cCc	p.H301P		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H301P(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GGCGCCCTCCACAGAGCACTC	0.463000													34	66					0	0	1	0	0
TSR1	55720	broad.mit.edu	37	17	2234267	2234267	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr17:2234267C>T	ENST00000301364.4	-	9	2712	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K		NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	545					ribosome assembly	nucleolus	protein binding	p.E545K(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						TCTTTTTCTTCAACCTCTTTA	0.378000													7	22					0	0	1	0	0
IGHV3-53	28420	broad.mit.edu	37	14	107049106	107049106	+	RNA	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr14:107049106C>T	ENST00000390627.2	-	0	235																											AAACCCAGCTCAGCCAAAACT	0.483000													22	86					0	0	1	0	0
SHISA2	387914	broad.mit.edu	37	13	26620830	26620830	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr13:26620830G>A	ENST00000319420.3	-	2	764	c.709C>T	c.(709-711)Cca>Tca	p.P237S		NM_001007538.1	NP_001007539.1	Q6UWI4	SHSA2_HUMAN	shisa family member 2	237					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane		p.P237S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						CCTTGATGTGGCACAATCTGG	0.557000													3	56					0	0	1	0	0
NGLY1	55768	broad.mit.edu	37	3	25781184	25781184	+	Silent	SNP	T	T	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:25781184T>A	ENST00000428257.1	-	5	872	c.765A>T	c.(763-765)ggA>ggT	p.G255G	NGLY1_ENST00000280700.5_Silent_p.G255G|NGLY1_ENST00000422724.2_Intron|NGLY1_ENST00000417874.2_Silent_p.G213G|NGLY1_ENST00000396649.3_Silent_p.G255G	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	255					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding	p.G255G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						ACCTAGTCTGTCCACCACATT	0.423000													30	75					0	0	1	0	0
DSG3	1830	broad.mit.edu	37	18	29039000	29039000	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr18:29039000C>A	ENST00000257189.4	+	5	460	c.377C>A	c.(376-378)aCa>aAa	p.T126K		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	126	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.T126K(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCCTAGATCACATGTCGGGCT	0.363000													14	22					2.31682e-05	2.53003e-05	1	1	0
MLF1	4291	broad.mit.edu	37	3	158322896	158322896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:158322896C>T	ENST00000359117.5	+	7	873	c.637C>T	c.(637-639)Caa>Taa	p.Q213*	MLF1_ENST00000355893.5_Nonsense_Mutation_p.Q238*|MLF1_ENST00000469452.1_Nonsense_Mutation_p.Q170*|MLF1_ENST00000392822.3_Nonsense_Mutation_p.Q269*|MLF1_ENST00000484955.1_Nonsense_Mutation_p.Q213*|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000471745.1_Nonsense_Mutation_p.Q228*|MLF1_ENST00000482628.1_Nonsense_Mutation_p.Q213*|MLF1_ENST00000478894.2_Nonsense_Mutation_p.Q228*	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	238					cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding	p.Q269*(1)|p.Q238*(1)		large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			GGAGAAACCTCAACAAAGTCC	0.328000			T	NPM1	AML								4	13					0	0	1	0	0
SUPT5H	6829	broad.mit.edu	37	19	39962250	39962250	+	Silent	SNP	A	A	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr19:39962250A>G	ENST00000599117.1	+	21	2197	c.1830A>G	c.(1828-1830)cgA>cgG	p.R610R	SUPT5H_ENST00000432763.2_Silent_p.R610R|SUPT5H_ENST00000402194.2_Silent_p.R606R|SUPT5H_ENST00000359191.6_Silent_p.R606R|SUPT5H_ENST00000598725.1_Silent_p.R610R			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	610	KOW 4.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	p.R610R(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCTAGGGCCGAGAAGGGGAGA	0.552000													30	20					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54048708	54048708	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr10:54048708G>A	ENST00000373980.4	+	16	2267	c.1850G>A	c.(1849-1851)aGa>aAa	p.R617K	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R320K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000373985.1_Missense_Mutation_p.R590K|PRKG1_ENST00000401604.2_Missense_Mutation_p.R602K	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	602	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.R602K(1)|p.R617K(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		CCATCAGAAAGATTAGGGAAT	0.308000													22	82					0	0	1	0	0
KPNA2	3838	broad.mit.edu	37	17	66042019	66042019	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr17:66042019G>C	ENST00000537025.2	+	10	2099	c.1479G>C	c.(1477-1479)gaG>gaC	p.E493D	KPNA2_ENST00000330459.3_Missense_Mutation_p.E493D|KPNA2_ENST00000582898.1_3'UTR			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	493					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	p.E493D(1)		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)			GCTTAATTGAGAAGTATTTCT	0.318000													17	74					0	0	1	0	0
WDR25	79446	broad.mit.edu	37	14	100847837	100847837	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr14:100847837C>T	ENST00000554175.1	+	2	755	c.576C>T	c.(574-576)ggC>ggT	p.192_192insG	WDR25_ENST00000402312.3_Silent_p.G192G|WDR25_ENST00000554998.1_Silent_p.G192G|WDR25_ENST00000335290.6_Silent_p.G192G			Q64LD2	WDR25_HUMAN	WD repeat domain 25									p.G192G(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				CGGAGACAGGCAAGGGTAAAG	0.542000													5	87					0	0	1	0	0
EPRS	2058	broad.mit.edu	37	1	220160560	220160560	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:220160560C>A	ENST00000366923.3	-	20	3231	c.2962G>T	c.(2962-2964)Gac>Tac	p.D988Y		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	988	Charged.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	p.D988Y(1)		breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTAGAAGGGTCTTTCCTTTGG	0.433000													24	65					4.59853e-10	5.49354e-10	1	1	0
TINAG	27283	broad.mit.edu	37	6	54245341	54245341	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:54245341G>T	ENST00000259782.4	+	10	1364	c.1268G>T	c.(1267-1269)gGa>gTa	p.G423V		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	423					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.G423V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ACACTGAGAGGAGCACAAGGG	0.368000													11	13					2.80697e-09	3.30888e-09	1	1	0
GUCY2C	2984	broad.mit.edu	37	12	14778702	14778702	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr12:14778702C>T	ENST00000261170.3	-	21	2533	c.2397G>A	c.(2395-2397)atG>atA	p.M799I		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	799					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	p.M799I(1)		breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTGGAAGCAACATAAAGTTAA	0.428000													26	82					0	0	1	0	0
PRMT8	56341	broad.mit.edu	37	12	3677968	3677968	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr12:3677968A>G	ENST00000382622.3	+	5	968	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	PRMT8_ENST00000452611.2_Missense_Mutation_p.Y184C|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	193					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.Y193C(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TGTCTGTTCTATGAGTCCATG	0.547000													24	65					0	0	1	0	0
PDGFA	5154	broad.mit.edu	37	7	550631	550631	+	Nonsense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr7:550631C>A	ENST00000402802.3	-	4	675	c.268G>T	c.(268-270)Gaa>Taa	p.E90*	PDGFA_ENST00000354513.5_Nonsense_Mutation_p.E90*	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	90					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity	p.E90*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		GGGACAGCTTCCTCTGCAACG	0.687000													6	9					0.0215528	0.0223046	1	1	0
NLRP3	114548	broad.mit.edu	37	1	247587274	247587274	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:247587274C>A	ENST00000366497.2	+	4	1309	c.529C>A	c.(529-531)Cac>Aac	p.H177N	NLRP3_ENST00000391828.3_Missense_Mutation_p.H177N|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Missense_Mutation_p.H177N|NLRP3_ENST00000336119.3_Missense_Mutation_p.H177N|NLRP3_ENST00000391827.2_Missense_Mutation_p.H177N|NLRP3_ENST00000348069.2_Missense_Mutation_p.H177N	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	177					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.H177N(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CATCAAGGAGCACCGGAGCCA	0.557000													14	11					4.3838e-07	4.97017e-07	1	1	0
MSANTD2	79684	broad.mit.edu	37	11	124637469	124637469	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr11:124637469T>C	ENST00000526629.1	-	3	2040	c.593A>G	c.(592-594)gAa>gGa	p.E198G	MSANTD2_ENST00000524950.1_3'UTR|MSANTD2_ENST00000374979.3_Missense_Mutation_p.E428G|MSANTD2_ENST00000239614.4_Missense_Mutation_p.E376G			Q6P1R3	CK061_HUMAN	Myb/SANT-like DNA-binding domain containing 2	428								p.E376G(1)									AATACATTCTTCATAGCCAAT	0.502000													16	97					0	0	1	0	0
TTC39B	158219	broad.mit.edu	37	9	15189720	15189720	+	Silent	SNP	T	T	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr9:15189720T>G	ENST00000380850.4	-	12	1212	c.1176A>C	c.(1174-1176)gtA>gtC	p.V392V	TTC39B_ENST00000355694.2_Intron|TTC39B_ENST00000507993.1_Intron|TTC39B_ENST00000512701.1_Intron|TTC39B_ENST00000297615.5_Intron|TTC39B_ENST00000507285.1_Intron	NM_001168340.1	NP_001161812.1	Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	339							binding	p.?(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						ATACTGAGCGTACATTTGGAA	0.448000													4	10					0	0	1	0	0
DENND4B	9909	broad.mit.edu	37	1	153907270	153907270	+	Silent	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:153907270C>T	ENST00000361217.4	-	18	3157	c.2739G>A	c.(2737-2739)gtG>gtA	p.V913V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	913	Gln-rich.							p.V913V(1)|p.V801V(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GATGTGCTGACACctgctcct	0.627000													13	24					0	0	1	0	0
NR5A2	2494	broad.mit.edu	37	1	200014594	200014594	+	Missense_Mutation	SNP	A	A	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:200014594A>T	ENST00000367362.3	+	4	591	c.345A>T	c.(343-345)caA>caT	p.Q115H	NR5A2_ENST00000236914.3_Missense_Mutation_p.Q69H|NR5A2_ENST00000544748.1_Missense_Mutation_p.Q43H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	115					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.Q115H(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GAACAGTCCAAAATAATAAAA	0.328000													9	36					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146107103	146107103	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:146107103G>C	ENST00000292579.7	-	6	1596	c.1480C>G	c.(1480-1482)Ctg>Gtg	p.L494V	ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.L489V|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L494V(1)		endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGCACAATCAGAGTTGCTTTC	0.557000													5	14					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976626	46976626	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:46976626G>A	ENST00000371956.4	+	3	383	c.368G>A	c.(367-369)cGg>cAg	p.R123Q	DMBX1_ENST00000360032.3_Missense_Mutation_p.R118Q	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	123	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R123Q(1)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AAGAACCGCCGGGCCAAGTTC	0.627000													7	12					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V														p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363000													4	71					0	0	1	0	0
HIST2H2AC	8338	broad.mit.edu	37	1	149858560	149858560	+	Silent	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:149858560C>T	ENST00000331380.2	+	1	36	c.36C>T	c.(34-36)cgC>cgT	p.R12R		NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	12					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R12R(1)		NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCAAGGCCCGCGCCAAGGCCA	0.587000													36	90					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10610574	10610574	+	Nonsense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr19:10610574G>A	ENST00000171111.5	-	2	683	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	KEAP1_ENST00000393623.2_Nonsense_Mutation_p.Q46*	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.Q46*(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TTGCCATGCTGGGAGGGCGTC	0.632000													22	50					0	0	1	0	0
PCDHGB2	56103	broad.mit.edu	37	5	140741814	140741814	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr5:140741814C>G	ENST00000522605.1	+	1	2112	c.2112C>G	c.(2110-2112)ttC>ttG	p.F704L	PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1												p.F704L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCTTCTTCCTCGCGGTGA	0.582000													28	82					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39089319	39089319	+	Silent	SNP	T	T	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:39089319T>A	ENST00000295373.6	-	4	666	c.540A>T	c.(538-540)acA>acT	p.T180T	DHX57_ENST00000479345.2_5'UTR|AC018693.6_ENST00000442829.1_RNA	NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	180	UBA.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding	p.T180T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATGGGGAGACTGTAAATTCTG	0.458000													8	35					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732059	30732059	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr16:30732059G>C	ENST00000262518.4	+	20	3398	c.3013G>C	c.(3013-3015)Gaa>Caa	p.E1005Q	SRCAP_ENST00000344771.4_Missense_Mutation_p.E1005Q|SRCAP_ENST00000395059.2_Missense_Mutation_p.E1005Q	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1005	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.E1005Q(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACCTAAGCAAGAAGGCCGGAC	0.552000													42	97					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80869214	80869214	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr15:80869214G>A	ENST00000533983.1	+	16	1827	c.1488G>A	c.(1486-1488)aaG>aaA	p.K496K	ARNT2_ENST00000303329.4_Silent_p.K507K|ARNT2_ENST00000527771.1_Silent_p.K496K			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	507					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K507K(1)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TAGCGGAGAAGAAGATGATGA	0.582000													27	65					0	0	1	0	0
GAPDH	2597	broad.mit.edu	37	12	6647123	6647123	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr12:6647123G>A	ENST00000229239.5	+	8	1565	c.899G>A	c.(898-900)gGc>gAc	p.G300D	GAPDH_ENST00000396856.1_Missense_Mutation_p.G225D|GAPDH_ENST00000396859.1_Missense_Mutation_p.G300D|RP5-940J5.9_ENST00000602946.1_RNA|GAPDH_ENST00000396858.1_Missense_Mutation_p.G258D|GAPDH_ENST00000396861.1_Missense_Mutation_p.G300D	NM_002046.4	NP_002037.2	P04406	G3P_HUMAN	glyceraldehyde-3-phosphate dehydrogenase	300					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding	p.G300D(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	GCTGGGGCTGGCATTGCCCTC	0.597000											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	49					0	0	1	0	0
PITRM1	10531	broad.mit.edu	37	10	3202411	3202411	+	Silent	SNP	T	T	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr10:3202411T>G	ENST00000380989.2	-	8	941	c.903A>C	c.(901-903)acA>acC	p.T301T	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000224949.4_Silent_p.T301T|PITRM1_ENST00000451104.2_Silent_p.T269T|PITRM1-AS1_ENST00000601046.1_RNA	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	269					proteolysis		metalloendopeptidase activity|zinc ion binding	p.T301T(1)		breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TGTCCCAGGGTGTCTGAGCTG	0.468000													3	16					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116426804	116426804	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:116426804G>T	ENST00000395715.3	-	7	3909	c.3332C>A	c.(3331-3333)cCc>cAc	p.P1111H	TRPS1_ENST00000220888.5_Missense_Mutation_p.P1098H|TRPS1_ENST00000520276.1_Missense_Mutation_p.P1102H|TRPS1_ENST00000519076.1_Missense_Mutation_p.P852H	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1098	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1111H(1)|p.P1098H(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTACAAAGGGAAGTCCAAA	0.463000									Langer-Giedion syndrome				24	43					1.64293e-13	2.01684e-13	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198274563	198274563	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:198274563G>A	ENST00000335508.5	-	7	926	c.835C>T	c.(835-837)Cca>Tca	p.P279S		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	279	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding	p.P279S(1)		NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATGGCCTGGTGTCGCATGG	0.547000			Mis		myelodysplastic syndrome								6	206					0	0	1	0	0
DUSP15	128853	broad.mit.edu	37	20	30451754	30451754	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr20:30451754G>A	ENST00000278979.3	-	5	286	c.210C>T	c.(208-210)ttC>ttT	p.F70F	DUSP15_ENST00000486996.1_5'UTR|DUSP15_ENST00000375966.4_Silent_p.F70F|DUSP15_ENST00000339738.5_Silent_p.F73F|DUSP15_ENST00000493115.1_5'UTR|DUSP15_ENST00000398084.2_5'UTR|DUSP15_ENST00000398083.1_5'UTR			Q9H1R2	DUS15_HUMAN	dual specificity phosphatase 15	70	Tyrosine-protein phosphatase.					cytoplasm|plasma membrane	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.F70F(1)|p.F73F(1)		large_intestine(1)|lung(4)|pancreas(1)|stomach(1)	7			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGCAGTGGATGAAGTTGATAC	0.557000													17	57					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230415081	230415081	+	Silent	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:230415081G>C	ENST00000366672.4	+	16	1665	c.1593G>C	c.(1591-1593)ctG>ctC	p.L531L	GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Silent_p.L493L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	531	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L531L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACTCCAAGCTGAGGCACGTGG	0.582000													12	20					0	0	1	0	0
OR2L13	284521	broad.mit.edu	37	1	248263401	248263401	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:248263401A>G	ENST00000366478.2	+	3	1061	c.724A>G	c.(724-726)Aca>Gca	p.T242A	OR2L13_ENST00000358120.2_Missense_Mutation_p.T242A	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.T242A(2)|p.T242S(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CACCATTTCAACACATTTAAC	0.463000													5	101					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	30					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136963676	136963676	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:136963676G>C	ENST00000359015.4	-	12	2180	c.1820C>G	c.(1819-1821)tCt>tGt	p.S607C	RP3-325F22.3_ENST00000432477.1_RNA|MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	607					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding	p.S607C(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCTGACAGAAGAGGCACTAAA	0.333000													40	69					0	0	1	0	0
TSHZ3	57616	broad.mit.edu	37	19	31768163	31768163	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr19:31768163C>G	ENST00000240587.4	-	2	2863	c.2536G>C	c.(2536-2538)Gat>Cat	p.D846H		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	846					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D663H(1)|p.D846H(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCGGATATATCTGACAAGGCA	0.527000													58	47					0	0	1	0	0
MAP3K11	4296	broad.mit.edu	37	11	65375408	65375408	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr11:65375408C>A	ENST00000309100.3	-	3	1539	c.1054G>T	c.(1054-1056)Gca>Tca	p.A352S	MAP3K11_ENST00000530153.1_Missense_Mutation_p.A95S	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	352	Protein kinase.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity	p.A352S(1)		breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						ATAAGCTGTGCGAAGGGCTCG	0.612000													13	8					1.49906e-05	1.64711e-05	1	1	0
KIAA1432	57589	broad.mit.edu	37	9	5757362	5757362	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr9:5757362C>A	ENST00000414202.2	+	17	2094	c.1903C>A	c.(1903-1905)Cgc>Agc	p.R635S	KIAA1432_ENST00000251879.6_Missense_Mutation_p.R635S|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R519S|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R556S|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R556S	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	635						integral to membrane		p.R556G(1)|p.R556S(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTCCATGTCACGCTACATTCC	0.423000													8	148					5.18039e-06	5.76319e-06	1	1	0
ZMIZ2	83637	broad.mit.edu	37	7	44799010	44799010	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr7:44799010G>C	ENST00000309315.4	+	7	1067	c.944G>C	c.(943-945)gGc>gCc	p.G315A	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.G315A|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.G283A|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.G283A|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.G315A	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	315	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.G315A(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCAGCAGGGCATGACCCAG	0.697000													15	59					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90634804	90634804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr15:90634804C>T	ENST00000330062.3	-	2	301	c.188G>A	c.(187-189)tGg>tAg	p.W63*	IDH2_ENST00000540499.2_Nonsense_Mutation_p.W11*|IDH2_ENST00000539790.1_Intron|IDH2_ENST00000559482.1_Nonsense_Mutation_p.W63*	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	63					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.W63*(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			GATGAACTGCCAGATAATACG	0.562000			M		GBM								3	105					0	0	1	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211125	107211125	+	RNA	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr14:107211125C>A	ENST00000390636.2	-	0	243																											CTGGCGGACCCAGTGCATAGC	0.607000													17	40					1.99824e-07	2.30965e-07	1	1	0
KDM3B	51780	broad.mit.edu	37	5	137734048	137734048	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr5:137734048G>C	ENST00000314358.5	+	10	3213	c.3013G>C	c.(3013-3015)Gag>Cag	p.E1005Q	KDM3B_ENST00000542866.1_Missense_Mutation_p.E37Q|KDM3B_ENST00000394866.1_Missense_Mutation_p.E661Q	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1005					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.E1005Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						CGTAATGTCTGAGAAGGAGGC	0.473000													18	47					0	0	1	0	0
GPR22	2845	broad.mit.edu	37	7	107115456	107115456	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr7:107115456G>A	ENST00000304402.4	+	3	2294	c.951G>A	c.(949-951)ttG>ttA	p.L317L	COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	317						integral to plasma membrane	G-protein coupled receptor activity	p.L317L(1)		large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TGTCTTTATTGATTATTTCTA	0.373000													8	55					0	0	1	0	0
ACADM	34	broad.mit.edu	37	1	76198356	76198356	+	Missense_Mutation	SNP	A	A	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:76198356A>C	ENST00000370841.4	+	3	583	c.146A>C	c.(145-147)cAa>cCa	p.Q49P	ACADM_ENST00000543667.1_5'UTR|ACADM_ENST00000370834.5_Missense_Mutation_p.Q49P|ACADM_ENST00000541113.1_Missense_Mutation_p.Q13P|ACADM_ENST00000420607.2_Missense_Mutation_p.Q53P	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	49					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	p.Q49P(1)		breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AAAGAATTTCAAGCTACTGCT	0.348000													40	49					0	0	1	0	0
TMPRSS15	5651	broad.mit.edu	37	21	19775898	19775898	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr21:19775898G>A	ENST00000284885.3	-	1	75	c.42C>T	c.(40-42)ctC>ctT	p.L14L		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	14					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CATAGGAGCTGAGAGAATGAT	0.393000													14	80					0	0	1	0	0
F13B	2165	broad.mit.edu	37	1	197019966	197019966	+	Silent	SNP	T	T	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:197019966T>A	ENST00000367412.1	-	10	1642	c.1599A>T	c.(1597-1599)ggA>ggT	p.G533G	F13B_ENST00000490002.1_5'UTR	NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	533	Sushi 9.				blood coagulation	extracellular region		p.G533G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAATAATGACTCCATGTTTAA	0.343000													12	45					0	0	1	0	0
PCDH10	57575	broad.mit.edu	37	4	134073258	134073258	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr4:134073258G>A	ENST00000264360.4	+	1	2789	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	655	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E655K(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCGGCCTTATGAGCTGGTGAT	0.692000													10	17					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10467205	10467205	+	Missense_Mutation	SNP	T	T	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:10467205T>G	ENST00000382483.3	-	4	4626	c.4403A>C	c.(4402-4404)cAg>cCg	p.Q1468P		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1468					intracellular signal transduction			p.Q1468P(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGAGCCACTCTGCCTCTCGCT	0.662000													34	78					0	0	1	0	0
PPA1	5464	broad.mit.edu	37	10	71973273	71973273	+	Missense_Mutation	SNP	C	C	T	rs11538284		TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr10:71973273C>T	ENST00000373232.2	-	6	556	c.457G>A	c.(457-459)Gac>Aac	p.D153N	PPA1_ENST00000373230.4_Missense_Mutation_p.D153N	NM_021129.3	NP_066952.1	Q15181	IPYR_HUMAN	pyrophosphatase (inorganic) 1	153					diphosphate metabolic process|tRNA aminoacylation for protein translation	cytosol	inorganic diphosphatase activity|magnesium ion binding	p.D153N(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(2)	10						ACTTTCCAGTCGGTTTCCCCT	0.383000													3	71					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9609136	9609136	+	Silent	SNP	T	T	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:9609136T>G	ENST00000310430.6	+	19	2876	c.2850T>G	c.(2848-2850)gcT>gcG	p.A950A	TNKS_ENST00000518281.1_Silent_p.A713A	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	950					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	p.A950A(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATATCAGAGCTTTGCTGATAG	0.393000													42	132					0	0	1	0	0
BLOC1S4	55330	broad.mit.edu	37	4	6718324	6718324	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr4:6718324C>T	ENST00000320776.3	+	1	483	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_018366.2	NP_060836.1			biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino									p.R130C(1)									CGAGATGCGGCGCATCTACAG	0.692000													9	10					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238048576	238048576	+	Silent	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:238048576G>T	ENST00000366570.4	-	9	1358	c.1200C>A	c.(1198-1200)atC>atA	p.I400I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	400	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.I400I(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TCTGGACAGGGATCAGCTGGG	0.517000													8	21					5.18039e-06	5.76319e-06	1	1	0
ZC3H13	23091	broad.mit.edu	37	13	46559563	46559563	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr13:46559563C>T	ENST00000242848.4	-	10	1937	c.1589G>A	c.(1588-1590)gGc>gAc	p.G530D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G530D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	530	Arg/Ser-rich.						nucleic acid binding|zinc ion binding	p.G530D(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATGGTTTCGGCCATAACTCCG	0.463000													13	59					0	0	1	0	0
OCRL	4952	broad.mit.edu	37	X	128699793	128699793	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chrX:128699793C>A	ENST00000371113.4	+	13	1454	c.1289C>A	c.(1288-1290)cCt>cAt	p.P430H	OCRL_ENST00000357121.5_Missense_Mutation_p.P430H	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	430					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	p.P430H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTTTGCATGCCTGATGCCAAT	0.343000													3	88					0.150653	0.153236	1	1	0
CECR2	27443	broad.mit.edu	37	22	18022656	18022656	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr22:18022656G>A	ENST00000262608.8	+	15	2761	c.2761G>A	c.(2761-2763)Gag>Aag	p.E921K	CECR2_ENST00000400573.4_Missense_Mutation_p.E920K|CECR2_ENST00000400585.2_Missense_Mutation_p.E779K	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	962					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding	p.E920K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GAGGGCACCGGAGAACAGTGA	0.522000													19	15					0	0	1	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72022764	72022764	+	Silent	SNP	T	T	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr12:72022764T>G	ENST00000378743.3	-	20	4238	c.3880A>C	c.(3880-3882)Aga>Cga	p.R1294R		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1294					RNA processing	intracellular	metal ion binding	p.R1294R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATAGGTTTTCTCCAAAACTTT	0.313000													4	27					0	0	1	0	0
AKR1D1	6718	broad.mit.edu	37	7	137761344	137761344	+	Nonsense_Mutation	SNP	C	C	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr7:137761344C>G	ENST00000242375.3	+	1	122	c.80C>G	c.(79-81)tCa>tGa	p.S27*	AKR1D1_ENST00000432161.1_Nonsense_Mutation_p.S27*|AKR1D1_ENST00000411726.2_Nonsense_Mutation_p.S27*|AKR1D1_ENST00000468877.2_Intron	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	27					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding	p.S27*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						GGTACCTACTCAGAACCTAAA	0.398000													8	12					0	0	1	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182852547	182852547	+	Silent	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:182852547G>T	ENST00000280295.3	+	2	318	c.84G>T	c.(82-84)ctG>ctT	p.L28L	PPP1R1C_ENST00000452904.1_Intron|PPP1R1C_ENST00000409702.1_Intron|PPP1R1C_ENST00000409137.3_Intron|PPP1R1C_ENST00000475249.1_Intron			Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	27					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			GATATTAGCTGGGCTTTTGTC	0.443000													36	67					1.26612e-14	1.56506e-14	1	1	0
USP8	9101	broad.mit.edu	37	15	50769639	50769639	+	Silent	SNP	T	T	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr15:50769639T>G	ENST00000433963.1	+	11	1661	c.1161T>G	c.(1159-1161)tcT>tcG	p.S387S	USP8_ENST00000396444.3_Silent_p.S387S|USP8_ENST00000307179.4_Silent_p.S387S|USP8_ENST00000425032.3_Silent_p.S310S	NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	387					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S387S(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTGCTGCTTCTAAATCTGATG	0.338000													17	53					0	0	1	0	0
FCN2	2220	broad.mit.edu	37	9	137777710	137777710	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr9:137777710G>T	ENST00000350339.2	+	5	426	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W	FCN2_ENST00000291744.6_Missense_Mutation_p.G176W	NM_015837.2	NP_056652.1	Q15485	FCN2_HUMAN	ficolin (collagen/fibrinogen domain containing lectin) 2	176	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding	p.G176W(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		GTTCTGGCTGGGGAATGACAA	0.672000													10	19					2.27111e-07	2.60811e-07	1	1	0
FLT3LG	2323	broad.mit.edu	37	19	49982278	49982278	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr19:49982278G>T	ENST00000595510.1	+	5	510	c.209G>T	c.(208-210)cGg>cTg	p.R70L	FLT3LG_ENST00000600429.1_Missense_Mutation_p.R152L|FLT3LG_ENST00000597551.1_Missense_Mutation_p.R152L|FLT3LG_ENST00000344019.3_Missense_Mutation_p.R152L|CTD-3148I10.9_ENST00000599536.1_Intron|FLT3LG_ENST00000596435.1_Missense_Mutation_p.R134L|FLT3LG_ENST00000595815.1_3'UTR|FLT3LG_ENST00000594009.1_Missense_Mutation_p.R152L|FLT3LG_ENST00000204637.2_Missense_Mutation_p.R70L			P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	152					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity	p.R152L(1)		large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		AACTTCTCCCGGTGCCTGGAG	0.637000													7	7					0.000157383	0.00016876	1	1	0
ROBO1	6091	broad.mit.edu	37	3	78710334	78710334	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:78710334G>T	ENST00000436010.2	-	14	3046	c.2049C>A	c.(2047-2049)gaC>gaA	p.D683E	ROBO1_ENST00000495273.1_Missense_Mutation_p.D686E|ROBO1_ENST00000467549.1_Missense_Mutation_p.D686E|ROBO1_ENST00000464233.1_Missense_Mutation_p.D722E			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	722	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.D699E(1)|p.D726E(1)|p.D686E(1)|p.D722E(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAACTAACCAGTCTGATTCTC	0.398000													3	27					0.004672	0.0049208	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75648900	75648900	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chrX:75648900G>A	ENST00000361470.2	+	1	855	c.577G>A	c.(577-579)Gat>Aat	p.D193N		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	193	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		p.D193N(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCCCACCCCTGATGAGGGACC	0.697000													5	10					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120057020	120057020	+	Missense_Mutation	SNP	T	T	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:120057020T>C	ENST00000235547.6	+	4	1019	c.880T>C	c.(880-882)Tat>Cat	p.Y294H	HSD3B1_ENST00000528909.1_Missense_Mutation_p.Y292H|HSD3B1_ENST00000369413.3_Missense_Mutation_p.Y292H	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	292					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.Y292H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATCCCTGATGTATTGGATTGG	0.473000													18	57					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21951987	21951987	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:21951987G>A	ENST00000289921.7	+	2	128	c.82G>A	c.(82-84)Gag>Aag	p.E28K		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	28								p.E28K(1)		endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GGCCTTCGTGGAGCACTGGAA	0.672000													18	34					0	0	1	0	0
VARS	7407	broad.mit.edu	37	6	31746796	31746796	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr6:31746796G>A	ENST00000375663.3	-	29	4114	c.3674C>T	c.(3673-3675)tCg>tTg	p.S1225L		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1225					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	p.S1225L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGGATAGCCCGAGGCAGCACG	0.657000													14	28					0	0	1	0	0
ME3	10873	broad.mit.edu	37	11	86267677	86267677	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr11:86267677C>A	ENST00000543262.1	-	4	711	c.385G>T	c.(385-387)Gtg>Ttg	p.V129L	ME3_ENST00000323418.6_Missense_Mutation_p.V67L|ME3_ENST00000359636.2_Missense_Mutation_p.V129L|RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000393324.3_Missense_Mutation_p.V129L	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	129					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding	p.V129L(1)		endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	AACTTCTCCACGTCCGAAGTC	0.552000													14	25					0.000151284	0.000163204	1	1	0
THOP1	7064	broad.mit.edu	37	19	2813149	2813149	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr19:2813149G>T	ENST00000307741.6	+	13	2148	c.1945G>T	c.(1945-1947)Ggc>Tgc	p.G649C	THOP1_ENST00000586677.1_Missense_Mutation_p.G528C|THOP1_ENST00000395212.4_Missense_Mutation_p.G218C	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	649					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.G649F(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGAGACCCGGCGGTTCCGA	0.677000													9	11					7.48243e-07	8.42957e-07	1	1	0
KCNV1	27012	broad.mit.edu	37	8	110984680	110984680	+	Silent	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:110984680G>A	ENST00000524391.1	-	3	1830	c.798C>T	c.(796-798)gaC>gaT	p.D266D	KCNV1_ENST00000297404.1_Silent_p.D266D			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	266						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.D266D(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			AGCGACACCTGTCCCGCACAC	0.532000													9	37					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	62038898	62038898	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr10:62038898C>G	ENST00000280772.1	-	3	416	c.225G>C	c.(223-225)ttG>ttC	p.L75F	ANK3_ENST00000503366.1_Missense_Mutation_p.L58F|ANK3_ENST00000373827.2_Missense_Mutation_p.L69F	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	75					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.L75F(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGAGAGCGTTCAACCCATTCT	0.438000													19	50					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888478	97888478	+	Missense_Mutation	SNP	C	C	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr3:97888478C>T	ENST00000356526.2	+	1	935	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S312L(2)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GTTAAGGTTTCATACTAATAT	0.284000													5	21					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234442	21234442	+	Missense_Mutation	SNP	G	G	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:21234442G>C	ENST00000233242.1	-	26	5425	c.5298C>G	c.(5296-5298)ttC>ttG	p.F1766L		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1766					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F1766L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTTTTGAAGAGAAGTCCAGTG	0.373000													38	112					0	0	1	0	0
CYP7A1	1581	broad.mit.edu	37	8	59409214	59409214	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:59409214G>A	ENST00000301645.3	-	3	994	c.857C>T	c.(856-858)tCg>tTg	p.S286L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	286					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.S286L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GTTTGCTTGCGATGCCCAGAG	0.423000									Neonatal Giant Cell Hepatitis				39	97					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13931342	13931342	+	Missense_Mutation	SNP	C	C	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr5:13931342C>A	ENST00000265104.4	-	2	173	c.69G>T	c.(67-69)aaG>aaT	p.K23N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	23	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K23N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTTCTCTCCCTTCAGTCTTT	0.383000									Kartagener syndrome				4	90					0.00024832	0.000264676	1	1	0
ZFYVE16	9765	broad.mit.edu	37	5	79734068	79734068	+	Missense_Mutation	SNP	G	G	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr5:79734068G>A	ENST00000338008.5	+	3	1744	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A522T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A522T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	522					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	p.A522T(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGATGAAGGCGCAAAAAGTGG	0.353000													3	68					0	0	1	0	0
ZNF474	133923	broad.mit.edu	37	5	121488198	121488198	+	Missense_Mutation	SNP	T	T	G	rs150551514	by1000genomes	TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr5:121488198T>G	ENST00000296600.4	+	2	896	c.513T>G	c.(511-513)tgT>tgG	p.C171W	ZNF474_ENST00000514925.1_Intron|CTC-441N14.2_ENST00000504829.1_RNA	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	171						intracellular	zinc ion binding	p.C171W(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		GTGAATCCTGTGGCCGCACAT	0.532000													12	28					0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111629071	111629071	+	Splice_Site	SNP	C	C	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr7:111629071C>G	ENST00000428084.1	-	6	735	c.464_splice	c.e6+1	p.E155_splice	DOCK4_ENST00000437633.1_Splice_Site_p.E155_splice|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	155					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding	p.E155Q(1)|p.E143Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AATACTCACTCATTGCCCCAG	0.567000													4	7					0	0	1	0	0
PHKB	5257	broad.mit.edu	37	16	47533691	47533691	+	Missense_Mutation	SNP	A	A	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr16:47533691A>G	ENST00000455779.1	+	4	355	c.170A>G	c.(169-171)cAa>cGa	p.Q57R	PHKB_ENST00000567402.1_3'UTR|PHKB_ENST00000299167.8_Missense_Mutation_p.Q64R|PHKB_ENST00000323584.5_Missense_Mutation_p.Q64R|PHKB_ENST00000566044.1_Missense_Mutation_p.Q57R			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	64					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity	p.Q64R(2)|p.Q57R(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				CTGCTGTATCAAAGTCCAACT	0.473000													33	82					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160086373	160086373	+	Missense_Mutation	SNP	C	C	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr2:160086373C>G	ENST00000263635.6	+	27	4673	c.4436C>G	c.(4435-4437)cCa>cGa	p.P1479R	TANC1_ENST00000454300.1_Missense_Mutation_p.P1373R	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1479						cell junction|postsynaptic density|postsynaptic membrane	binding	p.P1479R(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AGGTCCCAGCCATCCTCATCT	0.532000													28	65					0	0	1	0	0
PCDHB14	56122	broad.mit.edu	37	5	140605416	140605416	+	Missense_Mutation	SNP	G	G	T			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr5:140605416G>T	ENST00000239449.4	+	1	2339	c.2339G>T	c.(2338-2340)gGt>gTt	p.G780V	PCDHB14_ENST00000515856.2_Missense_Mutation_p.G627V	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		780					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.G780V(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CATGACACTGGTAGGAATATG	0.373000													24	65					2.21704e-12	2.70296e-12	1	1	0
LOC100287934	100287934	broad.mit.edu	37	1	745371	745371	+	RNA	DEL	A	A	-	rs146246821		TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:745371delA	ENST00000447500.1	-	0	95																											TTTATTTCATAAGATAGCATT	0.299													3	6	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs58327065		TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.3	-	1	556_557	c.241_242insAGCAGC	c.(241-243)acc>AGCAGCacc	p.80_81insSS		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													5	5	---	---	---	---					
DLC1	10395	broad.mit.edu	37	8	12958176	12958177	+	Frame_Shift_Ins	INS	-	-	A			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:12958176_12958177insA	ENST00000276297.4	-	9	2078_2079	c.1669_1670insT	c.(1669-1671)tccfs	p.S557fs	DLC1_ENST00000520226.1_Frame_Shift_Ins_p.S46fs|DLC1_ENST00000512044.2_Frame_Shift_Ins_p.S154fs|DLC1_ENST00000358919.2_Frame_Shift_Ins_p.S120fs	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	557					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGTTTTGGAGAAAAGACATCA	0.589													15	45	---	---	---	---					
NRG1	3084	broad.mit.edu	37	8	32616840	32616841	+	Frame_Shift_Ins	INS	-	-	G			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr8:32616840_32616841insG	ENST00000338921.4	+	11	1488_1489	c.971_972insG	c.(970-972)agtfs	p.S324fs	NRG1_ENST00000519301.1_Frame_Shift_Ins_p.S266fs|NRG1_ENST00000287842.3_Frame_Shift_Ins_p.S313fs|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Frame_Shift_Ins_p.S321fs|NRG1_ENST00000521670.1_Frame_Shift_Ins_p.S316fs|NRG1_ENST00000539990.1_Frame_Shift_Ins_p.S159fs|NRG1_ENST00000405005.2_Frame_Shift_Ins_p.S316fs|NRG1_ENST00000523079.1_Frame_Shift_Ins_p.S313fs|NRG1_ENST00000287845.5_Frame_Shift_Ins_p.S287fs|NRG1_ENST00000287840.5_Frame_Shift_Ins_p.S316fs			Q02297	NRG1_HUMAN	neuregulin 1	316					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GTATCTAAAAACGTCATCTCCA	0.396													20	75	---	---	---	---					
LRRC37A6P	387646	broad.mit.edu	37	10	27539361	27539361	+	RNA	DEL	G	G	-			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr10:27539361delG	ENST00000574842.1	+	0	630				LRRC37A6P_ENST00000284414.4_RNA																							AGGCTCAGTTGGGGCCTCCTC	0.582													14	33	---	---	---	---					
KTN1-AS1	100129075	broad.mit.edu	37	14	56014172	56014174	+	RNA	DEL	AAG	AAG	-	rs72015246		TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr14:56014172_56014174delAAG	ENST00000554558.1	-	0	364																											aaaaaaaaaaaagaaTTGGCACA	0.443													4	3	---	---	---	---					
FAM174B	400451	broad.mit.edu	37	15	93198679	93198684	+	In_Frame_Del	DEL	TGGAGC	TGGAGC	-	rs66488707		TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr15:93198679_93198684delTGGAGC	ENST00000327355.5	-	1	504_509	c.206_211delGCTCCA	c.(205-213)aac>a	p.SSN69del		NM_207446.2	NP_997329.2	Q3ZCQ3	F174B_HUMAN	family with sequence similarity 174, member B	69						integral to membrane				endometrium(2)|lung(1)	3						CCACTGCTGTTGGAGCTGGAGCTGCC	0.714													7	7	---	---	---	---					
C16orf11	146325	broad.mit.edu	37	16	613941	613942	+	Frame_Shift_Ins	INS	-	-	C			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr16:613941_613942insC	ENST00000409413.3	+	2	926_927	c.647_648insC	c.(646-648)accfs	p.T216fs		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	216	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TACCCGCTCAGCCCCGGCCTCT	0.718													2	4	---	---	---	---					
MAP2K3	5606	broad.mit.edu	37	17	21204251	21204251	+	Frame_Shift_Del	DEL	G	G	-			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr17:21204251delG	ENST00000342679.4	+	5	594	c.345delG	c.(343-345)atfs	p.M115fs	MAP2K3_ENST00000361818.5_Frame_Shift_Del_p.M86fs|MAP2K3_ENST00000316920.6_Frame_Shift_Del_p.M86fs	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	115	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACATCAACATGCGCACGGTCG	0.587													10	119	---	---	---	---					
LIF	3976	broad.mit.edu	37	22	30640019	30640019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-50-5936-01A-11D-1625-08	TCGA-50-5936-11A-01D-1625-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82d380d5-4c07-4cf0-a6e9-7ca9e3fc9a08	9c9f5938-1cd9-47f6-adb1-f0293a8a9eca	g.chr22:30640019delT	ENST00000249075.3	-	3	385	c.230delA	c.(229-231)acfs	p.N77fs	LIF_ENST00000403987.3_Frame_Shift_Del_p.Q17fs	NM_002309.4	NP_002300.1	P15018	LIF_HUMAN	leukemia inhibitory factor	77					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of MAPKKK cascade|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			CTTGTCCAGGTTGTTGGGGAA	0.642													8	30	---	---	---	---					
