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
EPHA7	2045	broad.mit.edu	37	6	94120643	94120643	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:94120643C>T	ENST00000369303.4	-	3	592	c.408G>A	c.(406-408)agG>agA	p.R136R	EPHA7_ENST00000369297.1_Silent_p.R136R	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	136						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTCTTATATTCCTGCCAGTGT	0.383000													8	67					0	0	0.003080	0	0
AR	367	broad.mit.edu	37	X	66765123	66765123	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:66765123G>C	ENST00000374690.3	+	1	659	c.135G>C	c.(133-135)gcG>gcC	p.A45A	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.A45A|AR_ENST00000396044.3_Silent_p.A45A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	45	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGAGGCCGCGAGCGCAGCAC	0.672000									Androgen Insensitivity Syndrome				14	13					0	0	0.002450	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141381239	141381239	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:141381239G>C	ENST00000389328.4	-	8	1483	c.1469C>G	c.(1468-1470)tCc>tGc	p.S490C	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.S383C|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.S392C	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	392					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATAGAGCTCGGAGAGGATGCT	0.512000													3	23					0	0	0.004672	0	0
DCLK3	85443	broad.mit.edu	37	3	36779587	36779587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:36779587C>A	ENST00000416516.2	-	2	1054	c.564G>T	c.(562-564)gaG>gaT	p.E188D		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	188						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGGATTTGCCTCGGGAGACC	0.587000													9	78					1.12685e-05	1.24555e-05	0.004482	1	0
DUSP4	1846	broad.mit.edu	37	8	29194882	29194882	+	Silent	SNP	C	C	A	rs141546461		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:29194882C>A	ENST00000240100.2	-	4	1235	c.846G>T	c.(844-846)gcG>gcT	p.A282A	DUSP4_ENST00000240101.2_Silent_p.A191A	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	282	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		GCGAGATGCCCGCCTGGCAGT	0.632000													18	41					1.28384e-07	1.46432e-07	0.001882	1	0
OR5D13	390142	broad.mit.edu	37	11	55541196	55541196	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:55541196T>A	ENST00000361760.1	+	1	283	c.283T>A	c.(283-285)Tct>Act	p.S95T		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CAGAACCATCTCTTTCTCTGG	0.408000													35	104					0	0	0.004878	0	0
C1orf56	54964	broad.mit.edu	37	1	151020578	151020578	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:151020578C>G	ENST00000368926.5	+	1	363	c.255C>G	c.(253-255)ctC>ctG	p.L85L		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	85						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCCGAGCTCTTGGCCGCCA	0.607000													6	65					0	0	0.001984	0	0
EGFR	1956	broad.mit.edu	37	7	55259538	55259538	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:55259538G>A	ENST00000275493.2	+	21	2773	c.2596G>A	c.(2596-2598)Gag>Aag	p.E866K	EGFR_ENST00000454757.2_Missense_Mutation_p.E813K|EGFR_ENST00000455089.1_Missense_Mutation_p.E821K|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	866	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E866K(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGGTGCGGAAGAGAAAGAATA	0.547000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			7	82					0	0	0.003080	0	0
OSM	5008	broad.mit.edu	37	22	30660259	30660259	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr22:30660259C>T	ENST00000215781.2	-	3	412	c.372G>A	c.(370-372)gaG>gaA	p.E124E	OSM_ENST00000403389.1_Silent_p.E103E|OSM_ENST00000403463.1_3'UTR	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	124					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GCCCAGACCTCTCCAAATCCT	0.622000													4	29					0	0	0.000602	0	0
CXorf36	79742	broad.mit.edu	37	X	45010943	45010943	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:45010943C>G	ENST00000398000.2	-	5	1330	c.1256G>C	c.(1255-1257)aGa>aCa	p.R419T	CXorf36_ENST00000477281.1_5'UTR	NM_176819.3	NP_789789.2	Q9H7Y0	CX036_HUMAN	chromosome X open reading frame 36	419						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						ATAGGCAAATCTGGAGTCACA	0.547000													13	59					0	0	0.001368	0	0
RASAL2	9462	broad.mit.edu	37	1	178427288	178427288	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:178427288G>A	ENST00000448150.3	+	14	3646	c.2828G>A	c.(2827-2829)aGa>aAa	p.R943K	RASAL2_ENST00000462775.1_Missense_Mutation_p.R813K|RASAL2_ENST00000367649.3_Missense_Mutation_p.R954K	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	813					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCCAGTTCCAGAAGCCAAAGT	0.473000													43	58					0	0	0.008740	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74506913	74506913	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:74506913C>A	ENST00000354431.4	-	7	1893	c.1702G>T	c.(1702-1704)Gaa>Taa	p.E568*	LRRIQ3_ENST00000395089.1_Nonsense_Mutation_p.E568*	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	568										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTTCATTTCTTTAAGTAAA	0.289000													8	15					0.00307968	0.00332927	0.003080	1	0
CR1L	1379	broad.mit.edu	37	1	207867947	207867947	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:207867947G>T	ENST00000508064.2	+	5	773	c.713G>T	c.(712-714)gGa>gTa	p.G238V	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	238	Sushi 4.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GTGGAAAATGGAATATTGGTA	0.458000													101	342					1.12765e-66	1.46687e-66	0.003610	1	0
KIAA1429	25962	broad.mit.edu	37	8	95524233	95524233	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:95524233G>C	ENST00000297591.5	-	12	2911	c.2836C>G	c.(2836-2838)Cct>Gct	p.P946A	KIAA1429_ENST00000437199.1_Missense_Mutation_p.P946A|KIAA1429_ENST00000421249.2_Missense_Mutation_p.P946A	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	946	Poly-Pro.				mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CCTTCAACAGGAGGTGGTGGG	0.328000													3	30					0	0	0.009096	0	0
NAMPT	10135	broad.mit.edu	37	7	105902110	105902110	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:105902110G>C	ENST00000222553.3	-	8	1320	c.1013C>G	c.(1012-1014)tCa>tGa	p.S338*	NAMPT_ENST00000354289.4_Nonsense_Mutation_p.S338*	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	338					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GTAACCCTTTGAGTTCTCAGT	0.323000													24	67					0	0	0.002780	0	0
REG1B	5968	broad.mit.edu	37	2	79312683	79312683	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:79312683G>T	ENST00000305089.3	-	5	448	c.368C>A	c.(367-369)tCc>tAc	p.S123Y		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	123	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						AGTGTCCCAGGACTTGTAGGA	0.537000													18	58					1.2644e-06	1.4175e-06	0.010504	1	0
KDELC2	143888	broad.mit.edu	37	11	108348424	108348424	+	Silent	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:108348424T>C	ENST00000434945.2	-	6	1442	c.1140A>G	c.(1138-1140)gaA>gaG	p.E380E	KDELC2_ENST00000532730.1_5'UTR|KDELC2_ENST00000323468.5_Silent_p.E436E			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	436						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TCTTCTTGGCTTCTTCATCAT	0.413000													5	94					0	0	0.001168	0	0
ESRRB	2103	broad.mit.edu	37	14	76965199	76965199	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:76965199G>T	ENST00000261532.7	+	8	1499	c.1427G>T	c.(1426-1428)tGg>tTg	p.W476L	ESRRB_ENST00000509242.1_Intron|ESRRB_ENST00000380887.2_Intron|RP11-187O7.3_ENST00000554926.1_lincRNA			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TCTGTGGCCTGGGTGGGCACT	0.602000													14	29					3.52763e-06	3.92125e-06	0.004990	1	0
DARS2	55157	broad.mit.edu	37	1	173822626	173822626	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:173822626G>A	ENST00000361951.4	+	14	2211	c.1484G>A	c.(1483-1485)aGa>aAa	p.R495K	DARS2_ENST00000239457.5_Missense_Mutation_p.R77K|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	495					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	GAAAATCCCAGAGAGCTGGAA	0.512000													7	93					0	0	0.001984	0	0
TRIM14	9830	broad.mit.edu	37	9	100862278	100862278	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:100862278T>A	ENST00000341469.2	-	3	481	c.472A>T	c.(472-474)Atg>Ttg	p.M158L	TRIM14_ENST00000342043.3_Missense_Mutation_p.M158L|TRIM14_ENST00000375098.3_Missense_Mutation_p.M158L	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	158						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGATCATTCATGATGTCAAGT	0.517000													25	56					0	0	0.003954	0	0
LRP1B	53353	broad.mit.edu	37	2	141598506	141598506	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:141598506C>A	ENST00000389484.3	-	30	6066	c.5095G>T	c.(5095-5097)Gca>Tca	p.A1699S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1699					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGTGAGCTGCAAGACACTGT	0.348000										TSP Lung(27;0.18)			11	36					9.70103e-10	1.14463e-09	0.008291	1	0
AKT3	10000	broad.mit.edu	37	1	243736282	243736282	+	Silent	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:243736282A>G	ENST00000366539.1	-	9	965	c.765T>C	c.(763-765)atT>atC	p.I255I	AKT3_ENST00000336199.5_Silent_p.I255I|AKT3_ENST00000263826.5_Silent_p.I255I|AKT3_ENST00000366540.1_Silent_p.I255I			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	255	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			AGGCAGAGACAATTTCTGCAC	0.413000													14	42					0	0	0.004007	0	0
MYH4	4622	broad.mit.edu	37	17	10358329	10358329	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:10358329G>A	ENST00000255381.2	-	21	2474	c.2364C>T	c.(2362-2364)ctC>ctT	p.L788L	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	788	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGCGCGTGATGAGTTGAGCTA	0.458000													14	26					0	0	0.001855	0	0
SLC25A25	114789	broad.mit.edu	37	9	130830761	130830761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:130830761C>T	ENST00000373068.2	+	1	282	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	SLC25A25_ENST00000373069.5_Nonsense_Mutation_p.Q55*	NM_001006641.3	NP_001006642.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	88	EF-hand 1.				transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						GAGACTCTTTCAGACGCTCGA	0.726000													9	22					0	0	0.004482	0	0
SERPINA9	327657	broad.mit.edu	37	14	94933622	94933622	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:94933622C>A	ENST00000337425.5	-	3	854	c.780G>T	c.(778-780)caG>caT	p.Q260H	SERPINA9_ENST00000448305.2_Missense_Mutation_p.Q162H|SERPINA9_ENST00000546329.1_Missense_Mutation_p.Q224H|SERPINA9_ENST00000298845.7_Missense_Mutation_p.Q160H|SERPINA9_ENST00000424550.2_Missense_Mutation_p.Q111H|SERPINA9_ENST00000380365.3_Missense_Mutation_p.Q242H	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	242					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		ACTGCTCTTTCTGGTGCATCA	0.517000													11	37					4.68919e-08	5.41908e-08	0.008291	1	0
OR4A16	81327	broad.mit.edu	37	11	55111359	55111359	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:55111359A>T	ENST00000314721.2	+	1	733	c.683A>T	c.(682-684)cAg>cTg	p.Q228L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTTACAGTCAGGAAGAGAGG	0.433000													28	51					0	0	0.005443	0	0
GEMIN7	79760	broad.mit.edu	37	19	45593650	45593650	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:45593650G>C	ENST00000270257.4	+	3	525	c.278G>C	c.(277-279)gGa>gCa	p.G93A	GEMIN7_ENST00000391951.2_Missense_Mutation_p.G93A|GEMIN7_ENST00000591747.1_Missense_Mutation_p.G93A|GEMIN7_ENST00000591607.1_Missense_Mutation_p.G93A	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	93					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GCCCACTTTGGAGCCACCGAC	0.602000													27	54					0	0	0.003954	0	0
CCNB3	85417	broad.mit.edu	37	X	50056882	50056882	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:50056882G>A	ENST00000376042.1	+	8	3748	c.3450G>A	c.(3448-3450)atG>atA	p.M1150I	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.M1150I			Q8WWL7	CCNB3_HUMAN	cyclin B3	1150					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAGATTACATGAACAGGCAGA	0.393000													5	23					0	0	0.001984	0	0
MYH1	4619	broad.mit.edu	37	17	10397676	10397676	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:10397676C>T	ENST00000226207.5	-	39	5756	c.5662G>A	c.(5662-5664)Gaa>Aaa	p.E1888K	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1888						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCACCGCTTCTTCAGCTTGT	0.438000													43	46					0	0	0.002522	0	0
WARS	7453	broad.mit.edu	37	14	100813098	100813098	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:100813098C>G	ENST00000355338.2	-	7	1429	c.811G>C	c.(811-813)Gac>Cac	p.D271H	WARS_ENST00000344102.5_Missense_Mutation_p.D230H|WARS_ENST00000556645.1_Missense_Mutation_p.D230H|RP11-638I2.8_ENST00000557226.1_RNA|WARS_ENST00000392882.2_Missense_Mutation_p.D271H|WARS_ENST00000358655.4_Missense_Mutation_p.D230H|WARS_ENST00000557135.1_Missense_Mutation_p.D271H	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	271					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	CAGTCGCTGTCAGTGAAGCCG	0.478000													14	39					0	0	0.003163	0	0
SMYD3	64754	broad.mit.edu	37	1	246021857	246021857	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:246021857G>C	ENST00000490107.1	-	10	1056	c.840C>G	c.(838-840)atC>atG	p.I280M	SMYD3_ENST00000388985.4_Missense_Mutation_p.I339M|SMYD3_ENST00000541742.1_Missense_Mutation_p.I280M|SMYD3_ENST00000366517.1_5'UTR	NM_001167740.1	NP_001161212.1	Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	339						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGCCGAGGTTGATGCAGGCAT	0.552000													16	46					0	0	0.003163	0	0
NOG	9241	broad.mit.edu	37	17	54671767	54671767	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:54671767G>A	ENST00000332822.4	+	1	708	c.183G>A	c.(181-183)ctG>ctA	p.L61L		NM_005450.4	NP_005441.1	Q13253	NOGG_HUMAN	noggin	61					BMP signaling pathway|cartilage development|cell differentiation in hindbrain|dorsal/ventral pattern formation|embryonic digit morphogenesis|embryonic skeletal joint morphogenesis|epithelial to mesenchymal transition|fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation|middle ear morphogenesis|negative regulation of astrocyte differentiation|negative regulation of BMP signaling pathway|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of cytokine activity|negative regulation of osteoblast differentiation|osteoblast differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of glomerulus development|somatic stem cell maintenance|wound healing	extracellular space	cytokine binding|protein homodimerization activity			ovary(1)	1	Breast(9;5.24e-08)					AAAAGGATCTGAACGAGACGC	0.672000													6	55					0	0	0.001168	0	0
ADSS	159	broad.mit.edu	37	1	244600160	244600160	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:244600160C>G	ENST00000366535.3	-	3	638	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	108					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TCTGCTTCTTCAAACAATCCA	0.338000													6	144					0	0	0.001984	0	0
PRMT5	10419	broad.mit.edu	37	14	23392302	23392302	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:23392302G>T	ENST00000324366.8	-	13	1666	c.1443C>A	c.(1441-1443)taC>taA	p.Y481*	PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Nonsense_Mutation_p.Y310*|PRMT5_ENST00000216350.8_Nonsense_Mutation_p.Y420*|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.1_RNA|PRMT5_ENST00000538452.1_Nonsense_Mutation_p.Y375*|PRMT5-AS1_ENST00000457443.1_RNA|PRMT5_ENST00000397441.2_Nonsense_Mutation_p.Y464*|PRMT5_ENST00000553897.1_Nonsense_Mutation_p.Y437*	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	481					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GGACCTCATTGTACAGCTTGG	0.502000													7	16					2.74318e-10	3.26115e-10	0.006214	1	0
UNC5D	137970	broad.mit.edu	37	8	35616922	35616922	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:35616922C>T	ENST00000287272.2	+	13	2061	c.2041C>T	c.(2041-2043)Ctt>Ttt	p.L681F	UNC5D_ENST00000404895.2_Missense_Mutation_p.L750F|UNC5D_ENST00000453357.2_Missense_Mutation_p.L745F|UNC5D_ENST00000416672.1_Missense_Mutation_p.L755F|UNC5D_ENST00000420357.1_Missense_Mutation_p.L683F|UNC5D_ENST00000449677.1_Missense_Mutation_p.L326F			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	750					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TACCTTTAGTCTTCAGATTTC	0.433000													23	136					0	0	0.003330	0	0
FNTA	2339	broad.mit.edu	37	8	42919326	42919326	+	Silent	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:42919326T>C	ENST00000302279.3	+	3	563	c.369T>C	c.(367-369)gcT>gcC	p.A123A	FNTA_ENST00000529687.1_5'UTR|FNTA_ENST00000342116.4_Intron|FNTA_ENST00000524546.1_3'UTR|RP11-598P20.5_ENST00000534420.1_Silent_p.A80A	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	123					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			CCCGGGATGCTATTGAGTTAA	0.378000													3	70					0	0	0.009096	0	0
KIF1B	23095	broad.mit.edu	37	1	10425556	10425556	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:10425556C>T	ENST00000377086.1	+	43	4804	c.4602C>T	c.(4600-4602)ctC>ctT	p.L1534L	KIF1B_ENST00000263934.6_Silent_p.L1488L|KIF1B_ENST00000377081.1_Silent_p.L1534L			O60333	KIF1B_HUMAN	kinesin family member 1B	1534					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CCCCCAGCCTCAGCAGTGGGA	0.537000													23	54					0	0	0.002780	0	0
ADAM23	8745	broad.mit.edu	37	2	207424751	207424751	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:207424751G>C	ENST00000264377.3	+	11	1406	c.1078G>C	c.(1078-1080)Gac>Cac	p.D360H	ADAM23_ENST00000374416.1_Missense_Mutation_p.D360H|ADAM23_ENST00000374415.3_Missense_Mutation_p.D360H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	360	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		GGATCAGATTGACATCACCAC	0.512000													16	36					0	0	0.004007	0	0
RHO	6010	broad.mit.edu	37	3	129247828	129247828	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:129247828C>G	ENST00000296271.3	+	1	346	c.252C>G	c.(250-252)ctC>ctG	p.L84L		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	84					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TGGCTGACCTCTTCATGGTCC	0.562000													10	95					0	0	0.006214	0	0
SNX27	81609	broad.mit.edu	37	1	151641055	151641055	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:151641055G>A	ENST00000368843.3	+	7	1213	c.1093G>A	c.(1093-1095)Gaa>Aaa	p.E365K	SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368838.1_Missense_Mutation_p.E272K|SNX27_ENST00000458013.2_Missense_Mutation_p.E365K	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	365					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTTTACAACAGAAGAAGAAAT	0.378000													27	57					0	0	0.003954	0	0
DMBT1	1755	broad.mit.edu	37	10	124348691	124348691	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:124348691C>T	ENST00000368909.3	+	17	2121	c.2015C>T	c.(2014-2016)tCa>tTa	p.S672L	DMBT1_ENST00000368955.3_Missense_Mutation_p.S662L|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.S672L|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.S662L	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	672	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCGCTGCTCAGGACATGAG	0.607000													44	140					0	0	0.009718	0	0
YPEL2	388403	broad.mit.edu	37	17	57466815	57466815	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:57466815C>G	ENST00000312655.4	+	4	574	c.256C>G	c.(256-258)Ctg>Gtg	p.L86V	YPEL2_ENST00000581865.1_3'UTR|YPEL2_ENST00000585166.1_Missense_Mutation_p.L86V	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	86						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CAAAACCACTCTGGGCTGGAA	0.473000													7	17					0	0	0.003080	0	0
NFATC3	4775	broad.mit.edu	37	16	68208309	68208309	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:68208309G>C	ENST00000349223.5	+	6	2031	c.1807G>C	c.(1807-1809)Gag>Cag	p.E603Q	NFATC3_ENST00000575270.1_Missense_Mutation_p.E603Q|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.E603Q|NFATC3_ENST00000329524.4_Missense_Mutation_p.E603Q	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	603					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCCTCATATTGAGAAGTACAG	0.303000													58	157					0	0	0.003610	0	0
LARP1B	55132	broad.mit.edu	37	4	129035746	129035746	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:129035746G>A	ENST00000326639.6	+	10	1221	c.1010G>A	c.(1009-1011)aGa>aAa	p.R337K	LARP1B_ENST00000441387.1_Missense_Mutation_p.R337K|LARP1B_ENST00000427266.1_Missense_Mutation_p.R337K|LARP1B_ENST00000264584.5_Missense_Mutation_p.R290K|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000512292.1_Missense_Mutation_p.R337K	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	337							RNA binding	p.R337T(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AATTCTCCAAGAATTGGAAGC	0.343000													4	14					0	0	0.009096	0	0
MACC1	346389	broad.mit.edu	37	7	20199323	20199323	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:20199323G>C	ENST00000400331.5	-	5	969	c.661C>G	c.(661-663)Caa>Gaa	p.Q221E	MACC1_ENST00000332878.4_Missense_Mutation_p.Q221E|MACC1_ENST00000589011.1_Missense_Mutation_p.Q221E	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	221					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GACCCTCCTTGATGGTTTACT	0.502000													4	65					0	0	0.009096	0	0
ZSCAN22	342945	broad.mit.edu	37	19	58850179	58850179	+	Silent	SNP	G	G	A	rs139283341	byFrequency	TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:58850179G>A	ENST00000329665.4	+	3	1110	c.963G>A	c.(961-963)gcG>gcA	p.A321A		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	321					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A321A(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		ACACAGGGGCGAAGCCCCATG	0.567000													13	110					0	0	0.001855	0	0
RAB25	57111	broad.mit.edu	37	1	156039538	156039538	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:156039538G>A	ENST00000361084.5	+	4	751	c.510G>A	c.(508-510)ctG>ctA	p.L170L	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	170					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGACTGTCCTGAAAGGTTAGA	0.517000													72	187					0	0	0.003610	0	0
KIAA1244	57221	broad.mit.edu	37	6	138657467	138657467	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:138657467G>C	ENST00000251691.4	+	34	6544	c.6378G>C	c.(6376-6378)caG>caC	p.Q2126H		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2126					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTCTCAATCAGATTCAGATTC	0.498000													45	55					0	0	0.003610	0	0
NPEPPS	9520	broad.mit.edu	37	17	45668227	45668227	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:45668227G>C	ENST00000322157.4	+	10	1477	c.1240G>C	c.(1240-1242)Gat>Cat	p.D414H	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D410H|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D334H	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	414					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGACGCCTTAGATAACAGCCA	0.403000													4	171					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179466751	179466751	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:179466751C>T	ENST00000589042.1	-	284	55471	c.55247G>A	c.(55246-55248)gGa>gAa	p.G18416E	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G9476E|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G16775E|TTN_ENST00000342992.6_Missense_Mutation_p.G15848E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G9351E|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G9543E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16775	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTGCCTTTCCATCAAATTC	0.418000													37	83					0	0	0.004289	0	0
B3GNT8	374907	broad.mit.edu	37	19	41932627	41932627	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:41932627G>C	ENST00000321702.2	-	3	510	c.57C>G	c.(55-57)ctC>ctG	p.L19L	B3GNT8_ENST00000601379.1_Intron	NM_198540.2	NP_940942.1	Q7Z7M8	B3GN8_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8	19					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						TGTACACTTTGAGGCCCAGGA	0.682000													5	47					0	0	0.001168	0	0
DAPL1	92196	broad.mit.edu	37	2	159672219	159672219	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:159672219C>T	ENST00000309950.3	+	4	266	c.210C>T	c.(208-210)ctC>ctT	p.L70L	DAPL1_ENST00000409042.1_Intron	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	70					apoptosis|cell differentiation					prostate(1)	1						ACCTTTAGCTCAACTATAAAT	0.393000													5	91					0	0	0.000602	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755298	140755298	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:140755298C>A	ENST00000517434.1	+	1	1648	c.1648C>A	c.(1648-1650)Ctg>Atg	p.L550M	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCACTGAGCCTGTTTGTGCT	0.632000													76	87					2.34191e-24	2.99201e-24	0.003610	1	0
RYR2	6262	broad.mit.edu	37	1	237659896	237659896	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:237659896G>A	ENST00000366574.2	+	20	2364	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	RYR2_ENST00000542537.1_Missense_Mutation_p.E667K|RYR2_ENST00000360064.6_Missense_Mutation_p.E681K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	683	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGACCACACAGAGCCCTTTGT	0.507000													31	65					0	0	0.002096	0	0
MORC4	79710	broad.mit.edu	37	X	106186356	106186356	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:106186356C>G	ENST00000355610.4	-	15	2039	c.1765G>C	c.(1765-1767)Gat>Cat	p.D589H	MORC4_ENST00000535534.1_Missense_Mutation_p.D337H|MORC4_ENST00000255495.7_Missense_Mutation_p.D589H	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	589							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ATGGAATAATCTAGAGAAGGT	0.458000													11	87					0	0	0.000978	0	0
ADCY10	55811	broad.mit.edu	37	1	167868675	167868675	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:167868675G>A	ENST00000367848.1	-	6	849	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	ADCY10_ENST00000367851.4_Nonsense_Mutation_p.Q210*|ADCY10_ENST00000545172.1_Nonsense_Mutation_p.Q57*			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	210	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTGCTCTCTGATCTGGAACA	0.507000													27	47					0	0	0.008361	0	0
TMPRSS2	7113	broad.mit.edu	37	21	42840399	42840399	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:42840399C>G	ENST00000398585.3	-	12	1409	c.1349G>C	c.(1348-1350)aGa>aCa	p.R450T	TMPRSS2_ENST00000332149.5_Missense_Mutation_p.R413T|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.R413T	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	413	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				ATAGACATATCTGCTGTTGCA	0.493000			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								3	61					0	0	0.004672	0	0
FAM151A	338094	broad.mit.edu	37	1	55075166	55075166	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:55075166C>A	ENST00000302250.2	-	8	1693	c.1533G>T	c.(1531-1533)caG>caT	p.Q511H	ACOT11_ENST00000343744.2_3'UTR|ACOT11_ENST00000371316.3_Intron|ACOT11_ENST00000481208.1_3'UTR|FAM151A_ENST00000371304.2_Missense_Mutation_p.Q324H	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	511						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGGCCTGCATCTGGAAGGACA	0.637000													24	46					1.85244e-09	2.17918e-09	0.003330	1	0
OR11L1	391189	broad.mit.edu	37	1	248004451	248004451	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:248004451G>T	ENST00000355784.2	-	1	803	c.748C>A	c.(748-750)Ctc>Atc	p.L250I		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCGTAGTAGAGAGTGACAACA	0.498000													25	57					1.2476e-16	1.55851e-16	0.006320	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125261973	125261973	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:125261973G>C	ENST00000431078.1	+	8	1528	c.1164G>C	c.(1162-1164)ggG>ggC	p.G388G		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	388	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.G388G(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AAATTGATGGGCTCTCAGTGA	0.547000													17	72					0	0	0.004007	0	0
IGHV3-38	28429	broad.mit.edu	37	14	106866462	106866462	+	RNA	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:106866462G>A	ENST00000390618.2	-	0	369																											TTCATTTGAAGATACAGCGTG	0.512000													10	170					0	0	0.000978	0	0
MYO18A	399687	broad.mit.edu	37	17	27422048	27422048	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:27422048T>C	ENST00000527372.1	-	29	4595	c.4415A>G	c.(4414-4416)gAg>gGg	p.E1472G	MYO18A_ENST00000531253.1_Missense_Mutation_p.E1472G|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1472G|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1472G	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1472					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGGGCCTCCTCATGCGCCTG	0.627000													2	4					0	0	0.004672	0	0
C8B	732	broad.mit.edu	37	1	57431597	57431597	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:57431597A>T	ENST00000371237.4	-	1	91	c.25T>A	c.(25-27)Tgg>Agg	p.W9R	RP5-1103B4.3_ENST00000417420.1_RNA|C8B_ENST00000543257.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000494324.1_5'UTR	NM_000066.2	NP_000057.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	9					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGCGCCCTCCAAGCCCATGTC	0.527000													9	77					0	0	0.006214	0	0
IL17A	3605	broad.mit.edu	37	6	52052561	52052561	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:52052561C>A	ENST00000340057.1	+	2	233	c.188C>A	c.(187-189)tCc>tAc	p.S63Y		NM_002190.2	NP_002181.1	Q16552	IL17_HUMAN	interleukin 17A	63					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					CCCAAAAGGTCCTCAGATTAC	0.443000													67	64					5.26073e-25	6.75398e-25	0.003610	1	0
DUSP22	56940	broad.mit.edu	37	6	348817	348817	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:348817G>C	ENST00000604971.1	+	4	1288	c.175G>C	c.(175-177)Gca>Cca	p.A59P	DUSP22_ENST00000603453.1_Missense_Mutation_p.A59P|DUSP22_ENST00000419235.2_Missense_Mutation_p.A162P|DUSP22_ENST00000605315.1_Missense_Mutation_p.A59P|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Missense_Mutation_p.A162P			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	162					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TTTGCAGGATGCAGAAGAAGC	0.552000													13	78					0	0	0.001855	0	0
COL5A2	1290	broad.mit.edu	37	2	189914104	189914104	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:189914104G>C	ENST00000374866.3	-	44	3390	c.3116C>G	c.(3115-3117)tCc>tGc	p.S1039C		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1039					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AGGACCATTGGAGCCTGGGGG	0.448000													3	26					0	0	0.004672	0	0
RYR3	6263	broad.mit.edu	37	15	34147067	34147067	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:34147067A>T	ENST00000389232.4	+	98	14031	c.13961A>T	c.(13960-13962)aAg>aTg	p.K4654M	RYR3_ENST00000559917.1_3'UTR|RYR3_ENST00000415757.3_Missense_Mutation_p.K4649M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4654					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATGGGCTTCAAGACACTGAGG	0.443000													37	51					0	0	0.003271	0	0
FAM199X	139231	broad.mit.edu	37	X	103432893	103432893	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:103432893G>C	ENST00000493442.1	+	5	1068	c.902G>C	c.(901-903)gGa>gCa	p.G301A	FAM199X_ENST00000299906.5_Intron	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	301	Ser-rich.									breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCCAGTGTTGGAAACTCTGCT	0.547000													5	87					0	0	0.000602	0	0
POLR3E	55718	broad.mit.edu	37	16	22325414	22325414	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:22325414C>G	ENST00000299853.5	+	8	654	c.487C>G	c.(487-489)Cag>Gag	p.Q163E	POLR3E_ENST00000564209.1_Missense_Mutation_p.Q163E|POLR3E_ENST00000359210.4_Missense_Mutation_p.Q163E|POLR3E_ENST00000418581.2_Missense_Mutation_p.Q127E	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	163					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GGACTCTTCACAGGATGAGGC	0.642000													3	29					0	0	0.004672	0	0
EGR1	1958	broad.mit.edu	37	5	137802793	137802793	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:137802793G>A	ENST00000239938.4	+	2	927	c.655G>A	c.(655-657)Gag>Aag	p.E219K		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	219			E -> D (in dbSNP:rs28365165).		cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E219K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATTTTCCCTGAGCCACAAAG	0.642000													37	82					0	0	0.005524	0	0
TMEM201	199953	broad.mit.edu	37	1	9658529	9658529	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:9658529A>T	ENST00000340305.5	+	4	461	c.452A>T	c.(451-453)gAg>gTg	p.E151V	TMEM201_ENST00000340381.6_Missense_Mutation_p.E151V|TMEM201_ENST00000377376.4_Missense_Mutation_p.E151V	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	151						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GAGGAGGTCGAGGTGTACCGG	0.617000													23	43					0	0	0.002780	0	0
SCN3A	6328	broad.mit.edu	37	2	165949010	165949010	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:165949010C>G	ENST00000360093.3	-	27	5052	c.4561G>C	c.(4561-4563)Gat>Cat	p.D1521H	SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000540861.1_Missense_Mutation_p.D4H|SCN3A_ENST00000283254.7_Missense_Mutation_p.D1521H|SCN3A_ENST00000409101.3_Missense_Mutation_p.D1472H	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1521						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTACAAAATCAAAGACCATT	0.353000													17	32					0	0	0.004990	0	0
LTBP1	4052	broad.mit.edu	37	2	33590506	33590506	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:33590506G>T	ENST00000404816.2	+	31	5000	c.4647G>T	c.(4645-4647)gaG>gaT	p.E1549D	LTBP1_ENST00000402934.1_Missense_Mutation_p.E1168D|LTBP1_ENST00000354476.3_Missense_Mutation_p.E1550D|LTBP1_ENST00000390003.4_Missense_Mutation_p.E1224D|LTBP1_ENST00000404525.1_Missense_Mutation_p.E1170D|LTBP1_ENST00000407925.1_Missense_Mutation_p.E1223D|LTBP1_ENST00000418533.2_Missense_Mutation_p.E1181D|LTBP1_ENST00000272273.5_Missense_Mutation_p.E447D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1549	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CGTACACTGAGTGCTGCTGTC	0.527000													18	47					8.34094e-07	9.37759e-07	0.008871	1	0
DNAH9	1770	broad.mit.edu	37	17	11711208	11711208	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:11711208C>G	ENST00000262442.3	+	44	8648	c.8580C>G	c.(8578-8580)ttC>ttG	p.F2860L	DNAH9_ENST00000454412.2_Missense_Mutation_p.F2860L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2860	AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCAGGACTTCAAGGTAAAAG	0.562000													8	20					0	0	0.004482	0	0
PTPRS	5802	broad.mit.edu	37	19	5207972	5207972	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:5207972C>G	ENST00000372412.4	-	37	5975	c.5742G>C	c.(5740-5742)aaG>aaC	p.K1914N	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.K1913N|PTPRS_ENST00000353284.2_Missense_Mutation_p.K1466N|PTPRS_ENST00000588012.1_Missense_Mutation_p.K1875N|PTPRS_ENST00000262963.6_Missense_Mutation_p.K1893N|PTPRS_ENST00000348075.2_Missense_Mutation_p.K1875N|PTPRS_ENST00000587303.1_Missense_Mutation_p.K1913N|PTPRS_ENST00000592099.1_Missense_Mutation_p.K1466N			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1913	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TTCGTAGCATCTTCACCGTCT	0.637000													7	69					0	0	0.004482	0	0
DPF1	8193	broad.mit.edu	37	19	38709670	38709670	+	Silent	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:38709670A>T	ENST00000416611.1	-	4	453	c.330T>A	c.(328-330)ggT>ggA	p.G110G	DPF1_ENST00000420980.2_Silent_p.G136G|DPF1_ENST00000414789.1_Silent_p.G54G|DPF1_ENST00000456296.1_Silent_p.G110G|DPF1_ENST00000412732.1_Silent_p.G54G|DPF1_ENST00000355526.4_Silent_p.G136G			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	136					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCGGGAGGCCACCCTCCTTCT	0.607000													9	152					0	0	0.008291	0	0
RHPN2	85415	broad.mit.edu	37	19	33486996	33486996	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:33486996G>A	ENST00000254260.3	-	11	1391	c.1356C>T	c.(1354-1356)ctC>ctT	p.L452L	RHPN2_ENST00000400226.4_Silent_p.L301L	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	452	BRO1.				signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					GGGCGTACGTGAGCCGGGAGC	0.617000													15	52					0	0	0.004007	0	0
HUWE1	10075	broad.mit.edu	37	X	53578103	53578103	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:53578103C>T	ENST00000342160.3	-	64	9601	c.9144G>A	c.(9142-9144)caG>caA	p.Q3048Q	HUWE1_ENST00000262854.6_Silent_p.Q3048Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3048					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTGGCATTCTGTGCTAGTT	0.562000													12	15					0	0	0.001368	0	0
UTRN	7402	broad.mit.edu	37	6	145161935	145161935	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:145161935G>C	ENST00000367545.3	+	72	10237	c.10237G>C	c.(10237-10239)Gag>Cag	p.E3413Q	UTRN_ENST00000367526.4_Missense_Mutation_p.E968Q	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3413					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAGGTCATGGAGCAGATTCA	0.522000													5	59					0	0	0.001168	0	0
ZNF445	353274	broad.mit.edu	37	3	44490106	44490106	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:44490106C>G	ENST00000425708.2	-	7	1398	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	ZNF445_ENST00000396077.2_Missense_Mutation_p.E353Q			P59923	ZN445_HUMAN	zinc finger protein 445	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TGAAAAGATTCTCTGAGCCCA	0.413000													3	57					0	0	0.004672	0	0
MTMR7	9108	broad.mit.edu	37	8	17218733	17218733	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:17218733C>G	ENST00000180173.5	-	4	395	c.361G>C	c.(361-363)Gaa>Caa	p.E121Q	MTMR7_ENST00000521857.1_Missense_Mutation_p.E121Q	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	121							protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TCTCTTTCTTCTTTATCCAGC	0.428000													21	40					0	0	0.001882	0	0
DOK1	1796	broad.mit.edu	37	2	74782358	74782358	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:74782358G>T	ENST00000233668.5	+	2	807	c.138G>T	c.(136-138)aaG>aaT	p.K46N	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_Missense_Mutation_p.K46N|DOK1_ENST00000409429.1_5'UTR	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	46	PH.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TTGACCATAAGGGGTCGAGCT	0.652000													18	35					3.32936e-07	3.77551e-07	0.006122	1	0
MTX1	4580	broad.mit.edu	37	1	155180369	155180369	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:155180369G>C	ENST00000368376.3	+	3	735	c.629G>C	c.(628-630)gGa>gCa	p.G210A	MTX1_ENST00000481771.1_3'UTR|MTX1_ENST00000316721.4_Missense_Mutation_p.G210A	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	210					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCAGTCATGGAGAGGTCATC	0.493000													75	129					0	0	0.003610	0	0
TTC3	7267	broad.mit.edu	37	21	38525505	38525505	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:38525505C>T	ENST00000399017.2	+	27	5415	c.2668C>T	c.(2668-2670)Ctg>Ttg	p.L890L	TTC3_ENST00000355666.1_Silent_p.L890L|TTC3_ENST00000354749.2_Silent_p.L890L|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Silent_p.L580L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	890					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				AAGAATATTTCTGCATGTTTT	0.358000													14	53					0	0	0.003163	0	0
KIF1B	23095	broad.mit.edu	37	1	10342384	10342384	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:10342384G>C	ENST00000377086.1	+	15	1429	c.1227G>C	c.(1225-1227)ctG>ctC	p.L409L	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Silent_p.L409L|KIF1B_ENST00000377083.1_Intron|KIF1B_ENST00000377093.4_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	409					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		tCCCAGATCTGAAAGATTTTC	0.433000													3	20					0	0	0.004672	0	0
CFB	629	broad.mit.edu	37	6	31896670	31896670	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:31896670G>A	ENST00000477310.1	+	3	447	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	C2_ENST00000469372.1_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000299367.5_Missense_Mutation_p.E140K|CFB_ENST00000556679.1_Intron|CFB_ENST00000456570.1_Intron|C2_ENST00000418949.2_Missense_Mutation_p.E140K|C2_ENST00000442278.2_Intron			P00751	CFAB_HUMAN	complement factor B	154	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTGGGATGGAGAAACAGCTGT	0.602000													15	47					0	0	0.002450	0	0
MFI2	4241	broad.mit.edu	37	3	196748344	196748344	+	Splice_Site	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:196748344T>C	ENST00000296350.5	-	6	758		c.e6-2		MFI2_ENST00000296351.4_Splice_Site	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5						cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCCAGGCACCTGCGGAGGAGA	0.662000													7	35					0	0	0.001984	0	0
CCDC90B	60492	broad.mit.edu	37	11	82996954	82996954	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:82996954G>C	ENST00000529689.1	-	1	496	c.62C>G	c.(61-63)tCa>tGa	p.S21*	CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000529073.1_Nonsense_Mutation_p.S21*|CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000455220.2_Intron			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	21						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				GCGGGGCCTTGAAACCCAACG	0.622000													6	19					0	0	0.001984	0	0
GSTM5	2949	broad.mit.edu	37	1	110255794	110255794	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:110255794G>T	ENST00000369812.5	+	3	237	c.166G>T	c.(166-168)Gac>Tac	p.D56Y	GSTM5_ENST00000369813.1_5'UTR|GSTM5_ENST00000256593.3_Missense_Mutation_p.D56Y			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	56	GST N-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity	p.D56Y(1)		NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	GCTGGGCCTGGACTTTCCCAA	0.537000													19	47					2.39556e-15	2.96899e-15	0.002780	1	0
FN1	2335	broad.mit.edu	37	2	216237099	216237099	+	Splice_Site	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:216237099C>G	ENST00000354785.4	-	40	6617		c.e40-1		FN1_ENST00000346544.3_Intron|FN1_ENST00000323926.6_Splice_Site|FN1_ENST00000446046.1_Intron|FN1_ENST00000357009.2_Intron|FN1_ENST00000443816.1_Splice_Site|FN1_ENST00000345488.5_Intron|FN1_ENST00000432072.2_Intron|FN1_ENST00000356005.4_Splice_Site|FN1_ENST00000336916.4_Splice_Site|FN1_ENST00000421182.1_Intron|FN1_ENST00000359671.1_Splice_Site|FN1_ENST00000357867.4_Intron			P02751	FINC_HUMAN	fibronectin 1						acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAAGCTCGTCTAGCCGAGAG	0.468000													4	55					0	0	0.001168	0	0
UBA3	9039	broad.mit.edu	37	3	69124581	69124581	+	Splice_Site	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:69124581C>T	ENST00000361055.4	-	4	318	c.264_splice	c.e4+1	p.L88_splice	UBA3_ENST00000415609.2_Intron|UBA3_ENST00000349511.4_Splice_Site_p.L74_splice|UBA3_ENST00000540295.1_Intron	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	88					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		tatatatTACCAGATTTTTCA	0.333000													3	10					0	0	0.004672	0	0
RANBP6	26953	broad.mit.edu	37	9	6013096	6013096	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:6013096C>G	ENST00000259569.5	-	1	2522	c.2512G>C	c.(2512-2514)Gat>Cat	p.D838H		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	838					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCATCCTCATCTTGCAGAGAC	0.338000													41	70					0	0	0.005524	0	0
ZNF536	9745	broad.mit.edu	37	19	30936637	30936637	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:30936637C>G	ENST00000355537.3	+	2	2315	c.2168C>G	c.(2167-2169)tCa>tGa	p.S723*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCATCCTCCTCAGGTAGGTTA	0.662000													12	10					0	0	0.001855	0	0
TSHZ3	57616	broad.mit.edu	37	19	31767678	31767678	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:31767678G>A	ENST00000240587.4	-	2	3348	c.3021C>T	c.(3019-3021)tcC>tcT	p.S1007S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1007					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			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)					TGGACAGTTTGGATAAGTCCC	0.502000													19	53					0	0	0.002780	0	0
ZNF638	27332	broad.mit.edu	37	2	71591192	71591192	+	Silent	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:71591192A>T	ENST00000409544.1	+	5	2157	c.1527A>T	c.(1525-1527)cgA>cgT	p.R509R	ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000377802.2_Silent_p.R509R|ZNF638_ENST00000355812.3_Silent_p.R509R|ZNF638_ENST00000264447.4_Silent_p.R509R	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	509	Arg-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GTCGGTCTCGAAGCCCAATGC	0.453000													17	54					0	0	0.004990	0	0
TATDN2	9797	broad.mit.edu	37	3	10320072	10320072	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:10320072C>T	ENST00000287652.4	+	6	3122	c.2071C>T	c.(2071-2073)Cgg>Tgg	p.R691W	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000496355.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.R691W	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	691						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTGGGAGGCCCGGGAAGCCTT	0.587000													30	171					0	0	0.002096	0	0
OR51G2	81282	broad.mit.edu	37	11	4936710	4936710	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:4936710C>T	ENST00000322013.3	-	1	212	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACATAGGTTCATGAAGTGAG	0.493000													4	37					0	0	0.009096	0	0
CELSR1	9620	broad.mit.edu	37	22	46760542	46760542	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr22:46760542C>G	ENST00000262738.3	-	33	8645	c.8646G>C	c.(8644-8646)ctG>ctC	p.L2882L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2882					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTCCACCTTCAGGCGGGGCT	0.706000													4	41					0	0	0.009096	0	0
OR2B6	26212	broad.mit.edu	37	6	27925253	27925253	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:27925253C>A	ENST00000244623.1	+	1	235	c.235C>A	c.(235-237)Cca>Aca	p.P79T		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGTACAGTCCCACAAATGCT	0.418000													26	48					7.33532e-06	8.14231e-06	0.003954	1	0
SPSB4	92369	broad.mit.edu	37	3	140785640	140785640	+	Splice_Site	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:140785640C>T	ENST00000310546.2	+	2	1438	c.694_splice	c.e2+1	p.P232_splice		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	232	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CGGCCTTGACCGTAAGTTGTG	0.632000													11	24					0	0	0.000978	0	0
RLF	6018	broad.mit.edu	37	1	40704946	40704946	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:40704946G>C	ENST00000372771.4	+	8	4599	c.4572G>C	c.(4570-4572)aaG>aaC	p.K1524N		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1524					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TCAAAGAAAAGAAAGCCCCAA	0.428000													9	79					0	0	0.006214	0	0
ABCA1	19	broad.mit.edu	37	9	107550273	107550273	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:107550273G>A	ENST00000374736.3	-	46	6526	c.6132C>T	c.(6130-6132)aaC>aaT	p.N2044N		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2044	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTCCACTATAGTTACCAGCAT	0.483000													31	59					0	0	0.007291	0	0
PRODH	5625	broad.mit.edu	37	22	18905833	18905833	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr22:18905833G>A	ENST00000357068.6	-	11	1688	c.1423C>T	c.(1423-1425)Cac>Tac	p.H475Y	PRODH_ENST00000334029.2_Missense_Mutation_p.H367Y|PRODH_ENST00000420436.1_Missense_Mutation_p.H367Y	NM_016335.4	NP_057419.4	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	475					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GCGCACCTGTGGTACATGGCG	0.642000													5	63					0	0	0.001984	0	0
SPOPL	339745	broad.mit.edu	37	2	139316703	139316703	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:139316703A>T	ENST00000280098.4	+	6	971	c.592A>T	c.(592-594)Aga>Tga	p.R198*		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	198						nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGAAAACACAAGATTTACAGA	0.363000													27	56					0	0	0.003954	0	0
LAMC2	3918	broad.mit.edu	37	1	183192287	183192287	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:183192287C>G	ENST00000264144.4	+	7	846	c.781C>G	c.(781-783)Caa>Gaa	p.Q261E	LAMC2_ENST00000493293.1_Missense_Mutation_p.Q261E	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	261	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TCTTGGGAATCAACAGGTGAG	0.473000													11	56					0	0	0.000978	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21796745	21796745	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:21796745G>T	ENST00000206660.6	+	18	3058	c.3058G>T	c.(3058-3060)Gag>Tag	p.E1020*	RPGRIP1_ENST00000382933.4_Nonsense_Mutation_p.E346*|RPGRIP1_ENST00000307974.4_Nonsense_Mutation_p.E379*|RPGRIP1_ENST00000556336.1_Nonsense_Mutation_p.E677*|RPGRIP1_ENST00000557771.1_Nonsense_Mutation_p.E982*|RPGRIP1_ENST00000400017.2_Nonsense_Mutation_p.E1020*			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	1020	Interaction with RPGR.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAATAGAATGGAGTATCTTAG	0.403000													18	45					7.21436e-19	9.08433e-19	0.008871	1	0
SH3PXD2A	9644	broad.mit.edu	37	10	105362787	105362787	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:105362787C>A	ENST00000369774.4	-	15	2464	c.2188G>T	c.(2188-2190)Ggc>Tgc	p.G730C	SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.G565C|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.G702C|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.G597C			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	730					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTGGGAGTGCCGCGGATGCCT	0.617000													37	109					1.21669e-08	1.4123e-08	0.003271	1	0
ADAR	103	broad.mit.edu	37	1	154575020	154575020	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:154575020C>G	ENST00000368474.4	-	2	297	c.98G>C	c.(97-99)gGa>gCa	p.G33A	ADAR_ENST00000292205.5_Missense_Mutation_p.G76A|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	33					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GGGGGAAGATCCTGGCCCAGG	0.527000													17	55					0	0	0.004990	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884273	38884273	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:38884273C>T	ENST00000339659.3	+	11	3174	c.1704C>T	c.(1702-1704)gtC>gtT	p.V568V	DYRK1A_ENST00000455387.2_Silent_p.V349V|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Silent_p.V577V	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	577					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CTACACAGGTCACTGTTGAAA	0.448000													23	60					0	0	0.004656	0	0
GPALPP1	55425	broad.mit.edu	37	13	45589593	45589593	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:45589593G>T	ENST00000361121.2	+	6	602	c.567G>T	c.(565-567)gaG>gaT	p.E189D	KIAA1704_ENST00000357537.3_Missense_Mutation_p.E19D|RP11-321C24.1_ENST00000437748.2_lincRNA|KIAA1704_ENST00000379151.4_Missense_Mutation_p.E189D			Q8IXQ4	K1704_HUMAN		189										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		TTGTAAGAGAGTCATGGATGA	0.368000													12	26					1.61879e-10	1.93322e-10	0.001368	1	0
ZFP90	146198	broad.mit.edu	37	16	68597516	68597516	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:68597516C>G	ENST00000570495.1	+	5	1118	c.826C>G	c.(826-828)Cac>Gac	p.H276D	ZFP90_ENST00000563169.2_Missense_Mutation_p.H276D|ZFP90_ENST00000398253.2_Missense_Mutation_p.H276D|RP11-615I2.7_ENST00000571720.1_RNA			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	276					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		TCAGAGAATTCACACTGGGGA	0.448000													38	81					0	0	0.004878	0	0
C5	727	broad.mit.edu	37	9	123808522	123808522	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:123808522C>A	ENST00000223642.1	-	2	234	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	69					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TGAACATGGCCTGAGGAGTAA	0.274000													9	44					5.16669e-11	6.20791e-11	0.000978	1	0
CDH12	1010	broad.mit.edu	37	5	21755775	21755775	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:21755775C>A	ENST00000382254.1	-	14	2896	c.1810G>T	c.(1810-1812)Gaa>Taa	p.E604*	CDH12_ENST00000522262.1_Nonsense_Mutation_p.E564*|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Nonsense_Mutation_p.E604*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	604	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAAATTGCTTCCACATTACAA	0.408000										HNSCC(59;0.17)			17	20					2.48551e-13	3.04687e-13	0.004990	1	0
DDR1	780	broad.mit.edu	37	6	30859842	30859842	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:30859842G>T	ENST00000324771.8	+	9	1277	c.729G>T	c.(727-729)aaG>aaT	p.K243N	DDR1_ENST00000376567.2_Missense_Mutation_p.K243N|DDR1_ENST00000513240.1_Missense_Mutation_p.K243N|DDR1_ENST00000446312.1_Missense_Mutation_p.R210I|DDR1_ENST00000376570.4_Missense_Mutation_p.K243N|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.K261N|DDR1_ENST00000376569.3_Missense_Mutation_p.K243N|DDR1_ENST00000376568.3_Missense_Mutation_p.K243N|DDR1_ENST00000452441.1_Missense_Mutation_p.K243N|DDR1_ENST00000454612.2_Missense_Mutation_p.K243N|DDR1_ENST00000376575.3_Missense_Mutation_p.K243N|DDR1_ENST00000418800.2_Missense_Mutation_p.K243N|DDR1_ENST00000361741.4_5'UTR			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	243					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	ACTTTAGGAAGAGTCAGGAGC	0.572000													12	110					1.61879e-10	1.93322e-10	0.001368	1	0
SMC5	23137	broad.mit.edu	37	9	72933808	72933808	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:72933808G>C	ENST00000361138.5	+	15	2137	c.2079G>C	c.(2077-2079)aaG>aaC	p.K693N		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	693					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTAGACAAAAGAAGAAGGAGC	0.393000													6	23					0	0	0.001984	0	0
GPR179	440435	broad.mit.edu	37	17	36498905	36498905	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:36498905G>C	ENST00000342292.4	-	1	788	c.768C>G	c.(766-768)ctC>ctG	p.L256L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	256						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GGTCTGGCTTGAGTCCATAGA	0.567000													31	89					0	0	0.009535	0	0
HECTD4	283450	broad.mit.edu	37	12	112650422	112650422	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:112650422C>T	ENST00000550722.1	-	49	7455	c.7060G>A	c.(7060-7062)Gag>Aag	p.E2354K	HECTD4_ENST00000430131.2_Missense_Mutation_p.E2078K|HECTD4_ENST00000377560.5_Missense_Mutation_p.E2328K	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GGAGTCCCCTCAGTTCTCTCC	0.507000													13	59					0	0	0.002450	0	0
EOMES	8320	broad.mit.edu	37	3	27758862	27758862	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:27758862G>C	ENST00000295743.4	-	6	1963	c.1760C>G	c.(1759-1761)gCt>gGt	p.A587G	EOMES_ENST00000449599.1_Missense_Mutation_p.A606G|EOMES_ENST00000537516.1_Missense_Mutation_p.A311G			O95936	EOMES_HUMAN	eomesodermin	587	Required for transcription activation (By similarity).				CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						TGGTAGTCCAGCTGCCATCTT	0.532000													17	20					0	0	0.004990	0	0
UROC1	131669	broad.mit.edu	37	3	126217004	126217004	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:126217004G>T	ENST00000290868.2	-	14	1381	c.1328C>A	c.(1327-1329)tCc>tAc	p.S443Y	UROC1_ENST00000383579.3_Missense_Mutation_p.S503Y	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	443					histidine catabolic process	cytosol	urocanate hydratase activity	p.S503C(1)|p.S443C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		AAATCCCTGGGAGAATATGTC	0.637000													38	138					4.07013e-28	5.25114e-28	0.008740	1	0
KIFAP3	22920	broad.mit.edu	37	1	170001111	170001111	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:170001111C>T	ENST00000367765.1	-	8	2138	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	KIFAP3_ENST00000538366.1_Missense_Mutation_p.E175K|KIFAP3_ENST00000361580.2_Missense_Mutation_p.E253K|KIFAP3_ENST00000367767.1_Missense_Mutation_p.E209K	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	253					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTTTGGTTTTCAGGGTCTTCA	0.338000													7	127					0	0	0.001984	0	0
TUBG1	7283	broad.mit.edu	37	17	40767058	40767058	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:40767058G>A	ENST00000251413.3	+	11	1417	c.1355G>A	c.(1354-1356)tGa>tAa	p.*452*		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	0					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CAGGAGCAGTGAGTCCCCCAG	0.602000													15	47					0	0	0.004007	0	0
ADAM19	8728	broad.mit.edu	37	5	156918894	156918894	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:156918894G>T	ENST00000257527.4	-	17	2013	c.1935C>A	c.(1933-1935)aaC>aaA	p.N645K	ADAM19_ENST00000517905.1_Missense_Mutation_p.N645K|ADAM19_ENST00000394020.1_Missense_Mutation_p.N647K|ADAM19_ENST00000430702.2_Missense_Mutation_p.N378K	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	645	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGAGGTGTTCCTGCACT	0.537000													15	21					2.32078e-09	2.72199e-09	0.003163	1	0
PCDHA8	56140	broad.mit.edu	37	5	140222075	140222075	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:140222075T>A	ENST00000531613.1	+	1	1169	c.1169T>A	c.(1168-1170)aTg>aAg	p.M390K	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.M390K	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCCTGATGCCCCATGTC	0.557000													7	137					0	0	0.001984	0	0
PTPN18	26469	broad.mit.edu	37	2	131128305	131128305	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:131128305G>C	ENST00000175756.5	+	10	885	c.784G>C	c.(784-786)Gat>Cat	p.D262H	PTPN18_ENST00000347849.3_Missense_Mutation_p.D155H	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	262	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CAGTCTCTTTGATGTGGTCCT	0.572000													6	62					0	0	0.001168	0	0
KMT2C	58508	broad.mit.edu	37	7	151945183	151945183	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:151945183G>T	ENST00000355193.2	-	14	2554	c.2336C>A	c.(2335-2337)gCa>gAa	p.A779E	KMT2C_ENST00000262189.6_Missense_Mutation_p.A779E					lysine (K)-specific methyltransferase 2C																		AGACACATCTGCCTTGCTTAT	0.433000													7	251					7.03913e-09	8.19496e-09	0.001368	1	0
AHNAK2	113146	broad.mit.edu	37	14	105414141	105414141	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:105414141C>T	ENST00000333244.5	-	7	7766	c.7647G>A	c.(7645-7647)gtG>gtA	p.V2549V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2549						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGAGTTTCACGTCCACTT	0.632000													13	239					0	0	0.004007	0	0
PSMC3IP	29893	broad.mit.edu	37	17	40726186	40726186	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:40726186C>G	ENST00000393795.3	-	4	376	c.268G>C	c.(268-270)Gat>Cat	p.D90H	PSMC3IP_ENST00000253789.5_Missense_Mutation_p.D90H|PSMC3IP_ENST00000587209.1_Missense_Mutation_p.D27H|PSMC3IP_ENST00000590760.1_Intron	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	90					DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		ATTTTGCCATCTAGGACTTGA	0.527000													3	34					0	0	0.004672	0	0
ESYT1	23344	broad.mit.edu	37	12	56522111	56522111	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:56522111G>A	ENST00000394048.5	+	1	272	c.8G>A	c.(7-9)cGa>cAa	p.R3Q	RP11-603J24.5_ENST00000550947.1_RNA|ESYT1_ENST00000541590.1_Missense_Mutation_p.R3Q|RP11-603J24.5_ENST00000549438.1_RNA|ESYT1_ENST00000267113.4_Missense_Mutation_p.R3Q	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	3						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						ACAATGGAGCGATCTCCAGGA	0.672000													11	31					0	0	0.001855	0	0
IPO9	55705	broad.mit.edu	37	1	201837898	201837898	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:201837898G>T	ENST00000361565.4	+	16	2047	c.1978G>T	c.(1978-1980)Gac>Tac	p.D660Y		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	660					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GGCCCCAGCAGACAAGATTCC	0.532000													19	30					4.96729e-08	5.73205e-08	0.008871	1	0
RASGRF1	5923	broad.mit.edu	37	15	79292245	79292245	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:79292245G>C	ENST00000419573.3	-	18	2908	c.2634C>G	c.(2632-2634)ctC>ctG	p.L878L	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.L862L|RASGRF1_ENST00000394745.3_Silent_p.L94L	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	880					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TATAGGAAAAGAGTGGGAACT	0.572000													23	69					0	0	0.001882	0	0
LRRC75A-AS1	125144	broad.mit.edu	37	17	16342670	16342670	+	RNA	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:16342670G>A	ENST00000475953.1	+	0	312				C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000578380.2_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000579473.1_RNA	NR_027667.1																						TGGAGTCTGCGAAGGCCGGGA	0.667000													6	59					0	0	0.001168	0	0
FGFBP1	9982	broad.mit.edu	37	4	15937873	15937873	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:15937873C>T	ENST00000382333.1	-	3	677	c.383G>A	c.(382-384)aGa>aAa	p.R128K	FGFBP1_ENST00000259988.2_Missense_Mutation_p.R128K	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	128					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CTTGGAATATCTACAGATGTC	0.458000													5	53					0	0	0.000602	0	0
ODC1	4953	broad.mit.edu	37	2	10584717	10584717	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:10584717C>T	ENST00000234111.4	-	4	669	c.159G>A	c.(157-159)ctG>ctA	p.L53L	ODC1_ENST00000446285.1_Intron|ODC1_ENST00000405333.1_Silent_p.L53L	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	53					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTAACCACCTCAGATGTTTCT	0.483000													5	72					0	0	0.001984	0	0
ZBTB16	7704	broad.mit.edu	37	11	113934272	113934272	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:113934272C>G	ENST00000335953.4	+	2	630	c.250C>G	c.(250-252)Ctg>Gtg	p.L84V	ZBTB16_ENST00000392996.2_Missense_Mutation_p.L84V	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	84	BTB.				apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCAGCAGATTCTGGAGTATGC	0.537000													18	30					0	0	0.006122	0	0
LRP1B	53353	broad.mit.edu	37	2	141122332	141122332	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:141122332C>A	ENST00000389484.3	-	72	12000	c.11029G>T	c.(11029-11031)Gat>Tat	p.D3677Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3677	LDL-receptor class A 30.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGAACTCATCAGCTCTACAT	0.393000										TSP Lung(27;0.18)			4	96					0.00909568	0.00976576	0.009096	1	0
ZNF831	128611	broad.mit.edu	37	20	57769668	57769668	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:57769668G>C	ENST00000371030.2	+	1	3594	c.3594G>C	c.(3592-3594)caG>caC	p.Q1198H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1198						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGCGGAGCAGAAGGCAAAGG	0.627000													3	46					0	0	0.004672	0	0
PLCH2	9651	broad.mit.edu	37	1	2411750	2411750	+	Splice_Site	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:2411750G>T	ENST00000449969.1	+	4	724	c.564_splice	c.e4+1	p.R188_splice	PLCH2_ENST00000419816.2_Splice_Site_p.R215_splice|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Splice_Site_p.R215_splice|PLCH2_ENST00000378488.3_Splice_Site_p.R215_splice			O75038	PLCH2_HUMAN	phospholipase C, eta 2	215	EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CAGATGTTCAGGGTGAGCTGG	0.657000													27	37					9.80776e-20	1.23896e-19	0.006320	1	0
HHIPL2	79802	broad.mit.edu	37	1	222717372	222717372	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:222717372G>A	ENST00000343410.6	-	2	539	c.481C>T	c.(481-483)Cat>Tat	p.H161Y		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	161					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCCTTCCATGAGACTCCTGG	0.557000													10	150					0	0	0.008291	0	0
PBX3	5090	broad.mit.edu	37	9	128678060	128678060	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:128678060G>C	ENST00000373487.4	+	3	450	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	PBX3_ENST00000342287.5_Missense_Mutation_p.E124Q|PBX3_ENST00000373483.2_Intron|PBX3_ENST00000538998.1_3'UTR|PBX3_ENST00000373489.5_Missense_Mutation_p.E124Q|PBX3_ENST00000447726.2_Missense_Mutation_p.E49Q			P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	124					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						TTCAGGTCCTGAGAAAGGTGG	0.547000													36	99					0	0	0.003610	0	0
SALL4	57167	broad.mit.edu	37	20	50406731	50406731	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:50406731G>T	ENST00000217086.4	-	2	2402	c.2291C>A	c.(2290-2292)tCc>tAc	p.S764Y	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	764					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S764F(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCAGCGAGGATGAGTCGTT	0.582000													12	33					0.000978159	0.00106475	0.000978	1	0
CERKL	375298	broad.mit.edu	37	2	182403895	182403895	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:182403895C>T	ENST00000410087.3	-	12	1562	c.1462G>A	c.(1462-1464)Gaa>Aaa	p.E488K	CERKL_ENST00000409440.3_Missense_Mutation_p.E470K|CERKL_ENST00000374969.2_Missense_Mutation_p.E375K|CERKL_ENST00000374970.2_Missense_Mutation_p.E419K|CERKL_ENST00000339098.5_Missense_Mutation_p.E514K	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	514					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			GAAGCAGTTTCATCCTCCTCC	0.373000													7	60					0	0	0.001984	0	0
MICAL3	57553	broad.mit.edu	37	22	18273598	18273598	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr22:18273598A>G	ENST00000441493.2	-	32	6261	c.5909T>C	c.(5908-5910)cTg>cCg	p.L1970P	XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1970						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAGCGCCACCAGTGAGTCTCT	0.562000													5	17					0	0	0.001168	0	0
DAND5	199699	broad.mit.edu	37	19	13080438	13080438	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:13080438G>C	ENST00000585548.1	+	2	150	c.54G>C	c.(52-54)cgG>cgC	p.R18R	DAND5_ENST00000317060.2_5'UTR			Q8N907	DAND5_HUMAN	DAN domain family member 5, BMP antagonist	0						extracellular region				kidney(2)|lung(3)|ovary(1)	6			OV - Ovarian serous cystadenocarcinoma(19;1.87e-18)			GCCCAGTCCGgacagacagac	0.582000													19	69					0	0	0.006122	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785485	22785485	+	RNA	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:22785485C>T	ENST00000600260.1	+	0	1574					NR_033899.1																						GCATCCAGCTCTCTGGAGAGA	0.612000													6	104					0	0	0.004482	0	0
IDH3B	3420	broad.mit.edu	37	20	2641351	2641351	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:2641351C>A	ENST00000380843.4	-	6	553	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	IDH3B_ENST00000380851.5_Nonsense_Mutation_p.E175*|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	175					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	ACCTCATGTTCCAGAGAGCTG	0.537000													12	77					9.31168e-06	1.0307e-05	0.001855	1	0
KCNG1	3755	broad.mit.edu	37	20	49626389	49626389	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:49626389C>T	ENST00000371571.4	-	2	772	c.487G>A	c.(487-489)Ggc>Agc	p.G163S	KCNG1_ENST00000396017.3_Missense_Mutation_p.G163S|RP5-955M13.4_ENST00000424566.1_RNA	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	163						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTGCAGCAGCCGTCCAGGTGG	0.677000													19	42					0	0	0.002299	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404944	59404944	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:59404944G>T	ENST00000301645.3	-	5	1320	c.1183C>A	c.(1183-1185)Cac>Aac	p.H395N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	395					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			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)				GGATCTAAGTGCATTAACTGT	0.423000									Neonatal Giant Cell Hepatitis				23	47					1.10513e-12	1.34635e-12	0.002299	1	0
SPTA1	6708	broad.mit.edu	37	1	158623212	158623212	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:158623212A>T	ENST00000368148.3	-	22	3220	c.3040T>A	c.(3040-3042)Tgg>Agg	p.W1014R	SPTA1_ENST00000368147.3_Missense_Mutation_p.W1014R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1014	SH3.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACCTTCCACCAGTCCTGAAGG	0.542000													7	76					0	0	0.001984	0	0
MCMBP	79892	broad.mit.edu	37	10	121616902	121616902	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:121616902C>G	ENST00000360003.3	-	5	546	c.377G>C	c.(376-378)aGa>aCa	p.R126T	MCMBP_ENST00000369077.3_Missense_Mutation_p.R126T|MCMBP_ENST00000466047.1_5'UTR	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	126					cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GAAAGTCTGTCTTTCCAAAGT	0.333000													3	45					0	0	0.009096	0	0
ZNF644	84146	broad.mit.edu	37	1	91406762	91406762	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:91406762G>C	ENST00000370440.1	-	3	366	c.149C>G	c.(148-150)tCa>tGa	p.S50*	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.S50*			Q9H582	ZN644_HUMAN	zinc finger protein 644	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTCTTTGTCTGAGATAAAATT	0.358000													34	105					0	0	0.002445	0	0
PCNXL2	80003	broad.mit.edu	37	1	233397060	233397060	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:233397060G>A	ENST00000258229.8	-	4	722	c.488C>T	c.(487-489)tCa>tTa	p.S163L	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	163						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TTCCTGTGCTGACAACTCCTA	0.353000													15	67					0	0	0.004007	0	0
COL18A1	80781	broad.mit.edu	37	21	46923960	46923960	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:46923960G>A	ENST00000359759.4	+	32	3985	c.3964G>A	c.(3964-3966)Gaa>Aaa	p.E1322K	COL18A1_ENST00000355480.5_Missense_Mutation_p.E1087K|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.E907K			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1322	Nonhelical region 8 (NC8).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GTTGGAGGCTGAAATGAAGGT	0.617000													21	40					0	0	0.002780	0	0
ZNF567	163081	broad.mit.edu	37	19	37210750	37210750	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:37210750G>T	ENST00000585696.1	+	3	2261	c.1031G>T	c.(1030-1032)cGc>cTc	p.R344L	ZNF567_ENST00000360729.4_Missense_Mutation_p.R344L|ZNF567_ENST00000588311.1_Missense_Mutation_p.R344L|ZNF567_ENST00000536254.2_Missense_Mutation_p.R375L|ZNF567_ENST00000392163.2_Missense_Mutation_p.R344L|ZNF850_ENST00000589390.1_Intron			Q8N184	ZN567_HUMAN	zinc finger protein 567	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGACA	0.443000													19	49					6.49762e-13	7.9281e-13	0.006122	1	0
HBG2	3048	broad.mit.edu	37	11	5275654	5275654	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:5275654G>A	ENST00000380259.2	-	7	1423	c.183C>T	c.(181-183)gtC>gtT	p.V61V	HBG2_ENST00000336906.4_Silent_p.V61V|HBG2_ENST00000380252.1_Silent_p.V51V					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGTGCCTTGACTTTGGGGT	0.537000													14	95					0	0	0.003330	0	0
COL12A1	1303	broad.mit.edu	37	6	75834045	75834045	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:75834045C>A	ENST00000322507.8	-	41	6959	c.6650G>T	c.(6649-6651)tGg>tTg	p.W2217L	COL12A1_ENST00000416123.2_Missense_Mutation_p.W2217L|COL12A1_ENST00000483888.2_Missense_Mutation_p.W2217L|COL12A1_ENST00000345356.6_Missense_Mutation_p.W1053L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2217	Fibronectin type-III 18.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GAATGTATCCCACCCAATCTG	0.363000													15	11					1.3612e-06	1.52385e-06	0.003163	1	0
MLIP	90523	broad.mit.edu	37	6	53989477	53989477	+	Silent	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:53989477A>T	ENST00000514921.1	+	3	539	c.426A>T	c.(424-426)gcA>gcT	p.A142A	MLIP_ENST00000274897.5_Silent_p.A142A|MLIP_ENST00000509997.1_Silent_p.A90A|MLIP_ENST00000358276.5_Silent_p.A136A|MLIP_ENST00000502396.1_Silent_p.A153A|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Silent_p.A80A|MLIP_ENST00000370877.2_Silent_p.A90A			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	142						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						ATGAGGCTGCAAGCAGAAAAG	0.522000													8	81					0	0	0.003080	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21329800	21329800	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:21329800C>T	ENST00000256958.2	+	5	546	c.450C>T	c.(448-450)ctC>ctT	p.L150L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	150					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTTATCACTCAATAGAGCAT	0.274000													27	39					0	0	0.005443	0	0
DNAH8	1769	broad.mit.edu	37	6	38885047	38885047	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:38885047G>A	ENST00000359357.3	+	67	9776	c.9522G>A	c.(9520-9522)agG>agA	p.R3174R	DNAH8_ENST00000441566.1_Silent_p.R3138R|DNAH8_ENST00000449981.2_Silent_p.R3391R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CCACAGTCAGGAAACTTGCAA	0.318000													4	34					0	0	0.000602	0	0
TEK	7010	broad.mit.edu	37	9	27202905	27202905	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:27202905C>G	ENST00000380036.4	+	13	2439	c.1997C>G	c.(1996-1998)tCt>tGt	p.S666C	TEK_ENST00000406359.4_Missense_Mutation_p.S623C|TEK_ENST00000519097.1_Missense_Mutation_p.S519C	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	666	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GATGGCTATTCTATTTCTTCT	0.383000													4	69					0	0	0.000602	0	0
PKD1L2	114780	broad.mit.edu	37	16	81219244	81219244	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:81219244C>T	ENST00000599697.1	-	11	1849	c.1850G>A	c.(1849-1851)aGg>aAg	p.R617K	PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2	617	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CACCAGCTCCCTCTGGTCTGT	0.607000													21	19					0	0	0.010504	0	0
OLR1	4973	broad.mit.edu	37	12	10319365	10319365	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:10319365G>C	ENST00000309539.3	-	3	430	c.370C>G	c.(370-372)Cac>Gac	p.H124D	OLR1_ENST00000432556.2_Missense_Mutation_p.H124D|OLR1_ENST00000543993.1_Missense_Mutation_p.H20D|OLR1_ENST00000544577.1_Missense_Mutation_p.H124D|OLR1_ENST00000545927.1_Missense_Mutation_p.H124D	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	124	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TTCTGGTGGTGAAGTTCCATT	0.433000													11	92					0	0	0.008291	0	0
UNC13C	440279	broad.mit.edu	37	15	54307626	54307626	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:54307626T>A	ENST00000545554.1	+	1	2526	c.2526T>A	c.(2524-2526)aaT>aaA	p.N842K	UNC13C_ENST00000537900.1_Missense_Mutation_p.N842K|UNC13C_ENST00000260323.11_Missense_Mutation_p.N842K			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	842					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CAACTGCAAATGAGTCAAGTA	0.423000													31	17					0	0	0.009535	0	0
PREX1	57580	broad.mit.edu	37	20	47269965	47269965	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:47269965C>G	ENST00000396220.1	-	20	2302	c.2280G>C	c.(2278-2280)atG>atC	p.M760I	PREX1_ENST00000371941.3_Missense_Mutation_p.M760I			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	760					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CACCATCGTTCATCACGTTGC	0.587000													10	150					0	0	0.006214	0	0
OR10G7	390265	broad.mit.edu	37	11	123909297	123909297	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:123909297G>T	ENST00000330487.5	-	1	420	c.412C>A	c.(412-414)Cgc>Agc	p.R138S		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R138C(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCACACGAGCGCCCAGTCATC	0.562000													85	169					4.34595e-34	5.644e-34	0.003610	1	0
CNTNAP2	26047	broad.mit.edu	37	7	146536801	146536801	+	Splice_Site	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:146536801A>T	ENST00000361727.3	+	3	724		c.e3-1			NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GCCCATCTTCAGGTGCTGGGG	0.433000										HNSCC(39;0.1)			17	33					0	0	0.010504	0	0
AP2A2	161	broad.mit.edu	37	11	970221	970221	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:970221C>T	ENST00000448903.2	+	3	330	c.189C>T	c.(187-189)ctC>ctT	p.L63L	AP2A2_ENST00000534328.1_Silent_p.L63L|AP2A2_ENST00000332231.5_Silent_p.L63L	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	63	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCAAGTTGCTCTTCATCTTTC	0.463000													12	77					0	0	0.002450	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058665	152058665	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:152058665C>G	ENST00000368806.1	-	3	1557	c.1493G>C	c.(1492-1494)aGa>aCa	p.R498T		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	498							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ATCTTGTGTTCTTTCTCTTGC	0.483000													70	235					0	0	0.003610	0	0
TNR	7143	broad.mit.edu	37	1	175299366	175299366	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:175299366C>G	ENST00000367674.1	-	21	4345	c.3637G>C	c.(3637-3639)Gac>Cac	p.D1213H	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.D1213H	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	1213	Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGTATATTGTCCAGCCCTGTG	0.557000													15	40					0	0	0.004990	0	0
XRCC1	7515	broad.mit.edu	37	19	44058920	44058920	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:44058920C>T	ENST00000262887.5	-	4	839	c.292G>A	c.(292-294)Gag>Aag	p.E98K	L34079.3_ENST00000597119.1_RNA|XRCC1_ENST00000543982.1_Missense_Mutation_p.E67K|L34079.2_ENST00000594374.1_Missense_Mutation_p.R106Q			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	98					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				CTGCGGCTCTCGGAAGGGGAC	0.592000								Other BER factors					44	95					0	0	0.002522	0	0
DNAH10	196385	broad.mit.edu	37	12	124298118	124298118	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:124298118G>A	ENST00000409039.3	+	19	3223	c.3198G>A	c.(3196-3198)gtG>gtA	p.V1066V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1066	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGTCCTGGGTGATTTCGCTTG	0.448000													4	35					0	0	0.009096	0	0
AKT1	207	broad.mit.edu	37	14	105246551	105246551	+	Missense_Mutation	SNP	C	C	T	rs34409589		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:105246551C>T	ENST00000554581.1	-	2	1529	c.49G>A	c.(49-51)Gag>Aag	p.E17K	AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	17	PH.		E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane).		activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity	p.E17K(102)		NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTGATGTACTCCCCTACAGAC	0.612000	E17K(KU1919_URINARY_TRACT)	1	Mis		"""breast, colorectal, ovarian, NSCLC"""								5	17					0	0	0.000602	0	0
CNTRL	11064	broad.mit.edu	37	9	123904504	123904504	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:123904504G>C	ENST00000373855.1	+	19	3087	c.2827G>C	c.(2827-2829)Gag>Cag	p.E943Q	CNTRL_ENST00000373850.1_Missense_Mutation_p.E391Q|CNTRL_ENST00000238341.5_Missense_Mutation_p.E943Q|CNTRL_ENST00000373847.1_Missense_Mutation_p.E391Q			Q7Z7A1	CNTRL_HUMAN	centriolin	943					cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						AGCTGATGAAGAGAAGGAGAG	0.433000													20	17					0	0	0.010504	0	0
DYRK1A	1859	broad.mit.edu	37	21	38884310	38884310	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:38884310C>A	ENST00000339659.3	+	11	3211	c.1741C>A	c.(1741-1743)Cat>Aat	p.H581N	DYRK1A_ENST00000455387.2_Missense_Mutation_p.H362N|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.H590N	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	590					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AACAACCTTTCATGTAGCCCC	0.498000													17	42					3.41278e-10	4.04497e-10	0.004990	1	0
DYDC2	84332	broad.mit.edu	37	10	82126470	82126470	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:82126470G>A	ENST00000372199.1	+	6	895	c.297G>A	c.(295-297)acG>acA	p.T99T	DYDC2_ENST00000256039.2_Silent_p.T99T|DYDC2_ENST00000444807.2_Silent_p.T99T|DYDC2_ENST00000372198.1_Silent_p.T113T|DYDC2_ENST00000372197.1_Silent_p.T99T			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	99							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			CTGTTTCCACGAAGAAGACCA	0.423000													10	139					0	0	0.006214	0	0
SCN9A	6335	broad.mit.edu	37	2	167138222	167138222	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:167138222T>C	ENST00000303354.6	-	13	2414	c.2074A>G	c.(2074-2076)Agt>Ggt	p.S692G	SCN9A_ENST00000409435.1_Missense_Mutation_p.S691G|SCN9A_ENST00000409672.1_Missense_Mutation_p.S680G|SCN9A_ENST00000375387.4_Missense_Mutation_p.S692G|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	691						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CTTGCTCTACTCATTGCTCTC	0.363000													28	34					0	0	0.008361	0	0
KLB	152831	broad.mit.edu	37	4	39448876	39448876	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:39448876G>C	ENST00000257408.4	+	4	2627	c.2530G>C	c.(2530-2532)Gac>Cac	p.D844H		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	844	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CTACGACTCGGACAGGGACAT	0.652000													9	58					0	0	0.004482	0	0
WSCD1	23302	broad.mit.edu	37	17	6014170	6014170	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:6014170G>A	ENST00000574946.1	+	7	1479	c.1089G>A	c.(1087-1089)ggG>ggA	p.G363G	WSCD1_ENST00000317744.5_Silent_p.G363G|WSCD1_ENST00000573634.1_Silent_p.G247G|WSCD1_ENST00000539421.1_Silent_p.G363G|WSCD1_ENST00000574232.1_Silent_p.G363G			Q658N2	WSCD1_HUMAN	WSC domain containing 1	363						integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGGAGCCGGGAACACATGGG	0.483000													73	63					0	0	0.003610	0	0
NADK2	133686	broad.mit.edu	37	5	36197708	36197708	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:36197708G>A	ENST00000397338.1	-	11	857	c.636C>T	c.(634-636)ttC>ttT	p.F212F	NADK2_ENST00000514504.1_Silent_p.F343F|NADK2_ENST00000282512.3_Silent_p.F212F|NADK2_ENST00000381937.4_Silent_p.F375F|NADK2_ENST00000511613.1_5'UTR|NADK2_ENST00000506945.1_Silent_p.F234F					NAD kinase 2, mitochondrial																		CTCGAATACTGAAAAGTATTT	0.353000													4	63					0	0	0.009096	0	0
PDIA6	10130	broad.mit.edu	37	2	10933284	10933284	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:10933284G>A	ENST00000404371.2	-	7	884	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	PDIA6_ENST00000381611.4_Silent_p.L136L|PDIA6_ENST00000540494.1_Silent_p.L128L|PDIA6_ENST00000272227.3_Silent_p.L131L|PDIA6_ENST00000404824.2_Silent_p.L179L			Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	131	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		AGCTGGCGCAGAGCACTCAGC	0.532000													8	19					0	0	0.006214	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23509641	23509641	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:23509641G>C	ENST00000258729.3	-	1	445	c.89C>G	c.(88-90)tCg>tGg	p.S30W		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	30	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GAAGGGTCCCGACACCGGGAT	0.602000													5	104					0	0	0.000602	0	0
ARAP2	116984	broad.mit.edu	37	4	36179551	36179551	+	Silent	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:36179551A>G	ENST00000303965.4	-	9	2244	c.1755T>C	c.(1753-1755)gtT>gtC	p.V585V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	585					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CAGGTGTAACAACAGCTTGAG	0.383000													19	29					0	0	0.006122	0	0
KIF9	64147	broad.mit.edu	37	3	47316836	47316836	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:47316836G>T	ENST00000335044.2	-	3	595	c.238C>A	c.(238-240)Cag>Aag	p.Q80K	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000452770.2_Missense_Mutation_p.Q80K|KIF9_ENST00000432493.1_Missense_Mutation_p.Q80K|KIF9_ENST00000352910.4_Silent_p.L22L|KIF9_ENST00000444589.2_Missense_Mutation_p.Q80K|KIF9_ENST00000425452.1_Missense_Mutation_p.Q94K|KIF9_ENST00000265529.3_Missense_Mutation_p.Q80K|KIF9_ENST00000425853.1_Missense_Mutation_p.Q80K	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	80	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCGAGGGCCTGAGAAACCACA	0.383000													11	28					2.80697e-09	3.28733e-09	0.000978	1	0
CHD1L	9557	broad.mit.edu	37	1	146765361	146765361	+	Missense_Mutation	SNP	G	G	C	rs140537285		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:146765361G>C	ENST00000369258.4	+	21	2481	c.2461G>C	c.(2461-2463)Gaa>Caa	p.E821Q	CHD1L_ENST00000431239.1_Missense_Mutation_p.E727Q|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.E617Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.E540Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	821	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GGCAGCCCTAGAAGAGGGCCT	0.448000													24	131					0	0	0.003954	0	0
ZNF496	84838	broad.mit.edu	37	1	247464447	247464447	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:247464447C>T	ENST00000294753.4	-	9	1602	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	ZNF496_ENST00000366498.2_Missense_Mutation_p.E416K|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	380					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			CGCTGCTTCTCTGTGGGGCTC	0.632000													35	31					0	0	0.003755	0	0
C2orf42	54980	broad.mit.edu	37	2	70408710	70408710	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:70408710G>C	ENST00000264434.2	-	3	787	c.408C>G	c.(406-408)atC>atG	p.I136M	C2orf42_ENST00000420306.1_Missense_Mutation_p.I136M	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	136										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						CCGCCAGCTTGATGTGCTGGC	0.572000													5	59					0	0	0.001168	0	0
GLUD1	2746	broad.mit.edu	37	10	88820737	88820737	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:88820737C>A	ENST00000277865.4	-	7	1090	c.994G>T	c.(994-996)Gag>Tag	p.E332*	GLUD1_ENST00000465164.1_5'UTR|GLUD1_ENST00000537649.1_Nonsense_Mutation_p.E165*|GLUD1_ENST00000544149.1_Nonsense_Mutation_p.E199*	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	332					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CCATCAGACTCACCAACAGCA	0.363000													42	116					6.7651e-33	8.77123e-33	0.003610	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135116332	135116332	+	Silent	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:135116332C>A	ENST00000368563.2	-	2	470	c.114G>T	c.(112-114)ccG>ccT	p.P38P	TUBGCP2_ENST00000417178.2_Intron|TUBGCP2_ENST00000543663.1_Silent_p.P38P|TUBGCP2_ENST00000470829.1_5'UTR|TUBGCP2_ENST00000252936.3_Silent_p.P38P	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	38					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		TAGTGACGTACGGGGTCCTGT	0.567000													19	40					1.56452e-12	1.90012e-12	0.007413	1	0
LY9	4063	broad.mit.edu	37	1	160793407	160793407	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:160793407G>A	ENST00000263285.5	+	8	1681	c.1651G>A	c.(1651-1653)Gag>Aag	p.E551K	LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Missense_Mutation_p.E421K|LY9_ENST00000368035.1_Missense_Mutation_p.E189K|LY9_ENST00000368040.1_Missense_Mutation_p.E189K	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	551					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGACAGGCCTGAGGTGCACAA	0.587000													6	108					0	0	0.001168	0	0
MROH9	80133	broad.mit.edu	37	1	170964616	170964616	+	Silent	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:170964616T>C	ENST00000367759.4	+	13	1435	c.1281T>C	c.(1279-1281)ctT>ctC	p.L427L	MROH9_ENST00000367758.3_Silent_p.L427L	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TGACGACTCTTATGTTCCAAG	0.468000													3	77					0	0	0.009096	0	0
CACNG8	59283	broad.mit.edu	37	19	54485395	54485395	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:54485395G>A	ENST00000270458.2	+	4	673	c.570G>A	c.(568-570)ccG>ccA	p.P190P		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	190					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		AGCCGGGCCCGAAGCGGGACG	0.657000													4	9					0	0	0.009096	0	0
HTT	3064	broad.mit.edu	37	4	3235054	3235054	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:3235054C>G	ENST00000355072.5	+	61	8575	c.8430C>G	c.(8428-8430)ctC>ctG	p.L2810L	HTT_ENST00000513806.1_Intron	NM_002111.6	NP_002102.4	P42858	HD_HUMAN	huntingtin	2810					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GCGACTATCTCCTCTCCAACC	0.627000													44	90					0	0	0.003610	0	0
PTPDC1	138639	broad.mit.edu	37	9	96859842	96859842	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:96859842G>T	ENST00000375360.3	+	7	1172	c.832G>T	c.(832-834)Gag>Tag	p.E278*	PTPDC1_ENST00000288976.3_Nonsense_Mutation_p.E330*	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	278							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCATGGTTATGAGGCACGACT	0.458000													22	63					1.55795e-14	1.92481e-14	0.001882	1	0
C13orf35	400165	broad.mit.edu	37	13	113333727	113333727	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:113333727C>T	ENST00000356049.1	+	2	792	c.34C>T	c.(34-36)Caa>Taa	p.Q12*		NM_207440.1	NP_997323.1	Q6ZP68	CM035_HUMAN	chromosome 13 open reading frame 35	12										breast(1)|lung(2)|ovary(1)|prostate(1)	5	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)		all cancers(43;0.201)			CTGCGTTGCTCAATGCAGAGA	0.582000													26	50					0	0	0.007291	0	0
BATF	10538	broad.mit.edu	37	14	76012894	76012894	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:76012894G>A	ENST00000286639.6	+	3	516	c.258G>A	c.(256-258)ctG>ctA	p.L86L	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Intron	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	86						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CGTCGGTGCTGAACAGCCACG	0.617000													10	25					0	0	0.006214	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188369	135188369	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:135188369G>A	ENST00000274513.5	+	4	452	c.280G>A	c.(280-282)Gag>Aag	p.E94K	SLC25A48_ENST00000433282.2_Missense_Mutation_p.E40K|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000412661.2_Missense_Mutation_p.E94K|SLC25A48_ENST00000420621.1_Missense_Mutation_p.E94K			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	94					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CCGCTGCGGGGAGCCAGAGGC	0.667000													6	93					0	0	0.001984	0	0
FANCM	57697	broad.mit.edu	37	14	45605262	45605262	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:45605262C>T	ENST00000267430.5	+	1	113	c.28C>T	c.(28-30)Cag>Tag	p.Q10*	FANCM_ENST00000542564.2_Nonsense_Mutation_p.Q10*|FANCM_ENST00000556036.1_Nonsense_Mutation_p.Q10*	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	10					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AACGCTTTTTCAGACGTGGGG	0.592000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				27	57					0	0	0.006320	0	0
SCN9A	6335	broad.mit.edu	37	2	167138221	167138221	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:167138221C>A	ENST00000303354.6	-	13	2415	c.2075G>T	c.(2074-2076)aGt>aTt	p.S692I	SCN9A_ENST00000409435.1_Missense_Mutation_p.S691I|SCN9A_ENST00000409672.1_Missense_Mutation_p.S680I|SCN9A_ENST00000375387.4_Missense_Mutation_p.S692I|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	691						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GCTTGCTCTACTCATTGCTCT	0.363000													28	33					6.38683e-12	7.7211e-12	0.008361	1	0
ABHD12B	145447	broad.mit.edu	37	14	51352564	51352564	+	Nonsense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:51352564A>T	ENST00000337334.2	+	7	628	c.613A>T	c.(613-615)Aga>Tga	p.R205*	ABHD12B_ENST00000353130.1_Nonsense_Mutation_p.R128*|ABHD12B_ENST00000395752.1_Nonsense_Mutation_p.R98*|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000554241.1_3'UTR	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	205							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GACCAAGGCAAGAAGTGGCAT	0.527000													41	150					0	0	0.002852	0	0
MYH8	4626	broad.mit.edu	37	17	10300230	10300230	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:10300230C>G	ENST00000403437.2	-	31	4346	c.4252G>C	c.(4252-4254)Gag>Cag	p.E1418Q	CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1418					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCGTCTTCTCAAGGGAAGCA	0.498000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				16	30					0	0	0.004990	0	0
OSBPL7	114881	broad.mit.edu	37	17	45896421	45896421	+	Silent	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:45896421C>A	ENST00000007414.3	-	5	491	c.300G>T	c.(298-300)tcG>tcT	p.S100S	OSBPL7_ENST00000392507.3_Silent_p.S100S	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	100	PH.				lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGGACATGACCGACAGCCGGA	0.552000													18	59					2.70639e-06	3.01263e-06	0.002299	1	0
DNMT3A	1788	broad.mit.edu	37	2	25472574	25472574	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:25472574C>T	ENST00000380746.4	-	2	137	c.24G>A	c.(22-24)gtG>gtA	p.V8V	DNMT3A_ENST00000321117.5_Intron|DNMT3A_ENST00000264709.3_Intron|DNMT3A_ENST00000402667.1_Intron	NM_153759.3	NP_715640.2	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	48					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTCCTTCTCACAACCCGCT	0.483000			"""Mis, F, N, S"""		AML								26	62					0	0	0.006320	0	0
MBD3	53615	broad.mit.edu	37	19	1578413	1578413	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:1578413C>T	ENST00000590550.2	-	5	1007	c.634G>A	c.(634-636)Gag>Aag	p.E212K	MBD3_ENST00000156825.1_Missense_Mutation_p.E268K|MBD3_ENST00000434436.3_Missense_Mutation_p.E268K|MBD3_ENST00000592012.1_Missense_Mutation_p.E236K			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	268					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		tcgtcgtcctcAGCGCAGGCC	0.721000													5	41					0	0	0.000602	0	0
LRP1	4035	broad.mit.edu	37	12	57559724	57559724	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:57559724C>T	ENST00000243077.3	+	16	3133	c.2667C>T	c.(2665-2667)ctC>ctT	p.L889L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	889	LDL-receptor class A 3.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCAGCCCTCTGCCGTGAGT	0.647000													17	26					0	0	0.004007	0	0
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													3	44					0	0	0.000602	0	0
BPIFB1	92747	broad.mit.edu	37	20	31893843	31893843	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:31893843C>G	ENST00000253354.1	+	14	1451	c.1290C>G	c.(1288-1290)atC>atG	p.I430M	BPIFB1_ENST00000464032.1_3'UTR	NM_033197.2	NP_149974.2	Q8TDL5	LPLC1_HUMAN	BPI fold containing family B, member 1	430						extracellular space	lipid binding										CTGAGATCATCCACTCCATCC	0.537000													4	95					0	0	0.000602	0	0
LAMA2	3908	broad.mit.edu	37	6	129807727	129807727	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:129807727G>A	ENST00000421865.2	+	56	7907	c.7858G>A	c.(7858-7860)Gat>Aat	p.D2620N		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2620	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCTGTTTCATGATGGAAGAGA	0.438000													7	32					0	0	0.001984	0	0
TPM1	7168	broad.mit.edu	37	15	63335043	63335043	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:63335043G>A	ENST00000357980.4	+	1	94	c.15G>A	c.(13-15)aaG>aaA	p.K5K	TPM1_ENST00000560445.1_Silent_p.K5K|TPM1_ENST00000559397.1_Silent_p.K5K|TPM1_ENST00000559556.1_Silent_p.K5K|TPM1_ENST00000288398.6_Silent_p.K5K|TPM1_ENST00000267996.7_Silent_p.K5K|TPM1_ENST00000403994.3_Silent_p.K5K|TPM1_ENST00000358278.3_Silent_p.K5K			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	5					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						ACGCCATCAAGAAGAAGATGC	0.692000													3	19					0	0	0.004672	0	0
GNA14	9630	broad.mit.edu	37	9	80262607	80262607	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:80262607C>G	ENST00000341700.6	-	1	616	c.103G>C	c.(103-105)Gag>Cag	p.E35Q		NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	35					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AGCTTAAGCTCACGGCGCGCG	0.677000													7	23					0	0	0.001984	0	0
DENND2A	27147	broad.mit.edu	37	7	140273659	140273659	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:140273659G>C	ENST00000275884.6	-	5	1812	c.1395C>G	c.(1393-1395)ttC>ttG	p.F465L	DENND2A_ENST00000537639.1_Missense_Mutation_p.F465L|DENND2A_ENST00000496613.1_Missense_Mutation_p.F465L|DENND2A_ENST00000492720.1_Missense_Mutation_p.F465L			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	465										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAAGGTTAAAGAAAATGTCAT	0.517000													14	198					0	0	0.002450	0	0
MED12	9968	broad.mit.edu	37	X	70339603	70339603	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:70339603G>T	ENST00000333646.6	+	3	471	c.272G>T	c.(271-273)cGc>cTc	p.R91L	MED12_ENST00000374080.3_Missense_Mutation_p.R91L|MED12_ENST00000374102.1_Missense_Mutation_p.R91L	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	91					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GACACTGGTCGCAGGAAGCCC	0.493000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						13	9					7.93312e-07	8.94465e-07	0.002450	1	0
COL12A1	1303	broad.mit.edu	37	6	75834885	75834885	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:75834885C>A	ENST00000322507.8	-	40	6874	c.6565G>T	c.(6565-6567)Gat>Tat	p.D2189Y	COL12A1_ENST00000416123.2_Missense_Mutation_p.D2189Y|COL12A1_ENST00000483888.2_Missense_Mutation_p.D2189Y|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1025Y	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2189	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGTCCAGAATCATATTGAGCA	0.413000													14	19					1.5739e-10	1.88532e-10	0.004007	1	0
ZNF224	7767	broad.mit.edu	37	19	44611268	44611268	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:44611268G>C	ENST00000336976.6	+	6	1209	c.955G>C	c.(955-957)Gat>Cat	p.D319H	AC084219.4_ENST00000592946.1_RNA	NM_013398.2	NP_037530.2	Q9NZL3	ZN224_HUMAN	zinc finger protein 224	319					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19		Prostate(69;0.0435)				ATTCCGATGTGATACGTGTGA	0.428000													27	127					0	0	0.004656	0	0
BRWD1	54014	broad.mit.edu	37	21	40568276	40568276	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:40568276C>G	ENST00000342449.3	-	41	6797	c.6719G>C	c.(6718-6720)aGa>aCa	p.R2240T	BRWD1_ENST00000333229.2_Intron|BRWD1_ENST00000380800.3_Intron	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACCCTGATTTCTCGTTTTTAT	0.398000													15	134					0	0	0.003163	0	0
GPATCH2L	55668	broad.mit.edu	37	14	76621136	76621136	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:76621136C>G	ENST00000261530.7	+	2	496	c.430C>G	c.(430-432)Cag>Gag	p.Q144E	GPATCH2L_ENST00000312858.5_Missense_Mutation_p.Q144E|GPATCH2L_ENST00000557263.1_Missense_Mutation_p.Q144E|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.Q144E	NM_017926.2	NP_060396.2			G patch domain containing 2-like																		TGCTAGCCTTCAGCAGAAGCT	0.532000													5	36					0	0	0.001168	0	0
ZFAS1	441951	broad.mit.edu	37	20	47895497	47895497	+	RNA	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:47895497C>T	ENST00000450535.1	+	0	539				ZFAS1_ENST00000428008.1_RNA|ZFAS1_ENST00000371743.3_RNA|SNORD12C_ENST00000386307.1_RNA|ZFAS1_ENST00000417721.1_RNA|ZFAS1_ENST00000441722.1_RNA|ZFAS1_ENST00000458653.1_RNA|ZFAS1_ENST00000326677.5_RNA																							ATGATGACTTCACTTTTTTCC	0.498000													16	35					0	0	0.004990	0	0
ITPRIP	85450	broad.mit.edu	37	10	106075326	106075326	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:106075326C>T	ENST00000278071.2	-	3	936	c.484G>A	c.(484-486)Gag>Aag	p.E162K	ITPRIP_ENST00000358187.2_Missense_Mutation_p.E162K|ITPRIP_ENST00000337478.1_Missense_Mutation_p.E162K	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	162						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCCAGGAACTCCCGGGTACGG	0.647000													16	56					0	0	0.003163	0	0
MEGF11	84465	broad.mit.edu	37	15	66191111	66191111	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:66191111C>T	ENST00000409699.2	-	22	3101	c.2929G>A	c.(2929-2931)Gat>Aat	p.D977N	MEGF11_ENST00000422354.1_Missense_Mutation_p.D977N|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.D902N|MEGF11_ENST00000395625.2_Missense_Mutation_p.D902N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	977						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GATGGCACATCTGTGTACGGA	0.433000													4	103					0	0	0.009096	0	0
TTC21A	199223	broad.mit.edu	37	3	39179033	39179033	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:39179033G>C	ENST00000301819.6	+	26	3708	c.3531G>C	c.(3529-3531)caG>caC	p.Q1177H	TTC21A_ENST00000440121.1_Missense_Mutation_p.Q1128H|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.Q1176H	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1176							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TCCTGAAGCAGATCCCCAAGG	0.622000													3	38					0	0	0.009096	0	0
UGGT2	55757	broad.mit.edu	37	13	96508411	96508411	+	Splice_Site	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:96508411C>A	ENST00000376747.3	-	34	4079		c.e34+1			NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AACCTTATTACCTGGTCAGCA	0.308000													12	40					2.27111e-07	2.58663e-07	0.001368	1	0
PRKAB2	5565	broad.mit.edu	37	1	146634073	146634073	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:146634073G>A	ENST00000254101.3	-	6	756	c.618C>T	c.(616-618)ccC>ccT	p.P206P	PRKAB2_ENST00000425272.2_Silent_p.P124P|PRKAB2_ENST00000496858.1_5'UTR	NM_005399.3	NP_005390.1	O43741	AAKB2_HUMAN	protein kinase, AMP-activated, beta 2 non-catalytic subunit	206					carnitine shuttle|cell cycle arrest|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm				NS(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.0487)				Adenosine monophosphate(DB00131)	GAGGAAGGATGGGTGGGGATT	0.428000													19	19					0	0	0.008871	0	0
HLA-F	3134	broad.mit.edu	37	6	29693318	29693318	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:29693318G>C	ENST00000440587.2	+	5	986	c.627G>C	c.(625-627)gtG>gtC	p.V209V	HLA-F_ENST00000376861.1_Silent_p.V327V|HLA-F_ENST00000475996.1_3'UTR|HLA-F_ENST00000334668.4_Silent_p.V327V|HLA-F_ENST00000259951.7_Silent_p.V327V|HLA-F_ENST00000434407.2_Silent_p.V235V			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	327	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TCGCTGCTGTGATGTGGAGGA	0.587000													6	135					0	0	0.001984	0	0
ZC3H12C	85463	broad.mit.edu	37	11	110036067	110036067	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:110036067G>A	ENST00000453089.2	+	5	3045	c.2164G>A	c.(2164-2166)Gac>Aac	p.D722N	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D753N|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D754N			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	753							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CAGCATCTCTGACTCTCGACT	0.562000													14	163					0	0	0.002450	0	0
ANGEL1	23357	broad.mit.edu	37	14	77257677	77257677	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:77257677C>G	ENST00000251089.2	-	8	1763	c.1651G>C	c.(1651-1653)Gag>Cag	p.E551Q	ANGEL1_ENST00000557179.1_Missense_Mutation_p.E116Q	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	551										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		GCATCTTCCTCAAGGACAGAC	0.502000													14	50					0	0	0.004990	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814337	106814337	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:106814337C>T	ENST00000407775.2	+	8	2277	c.2027C>T	c.(2026-2028)cCc>cTc	p.P676L	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P544L|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P407L|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P544L|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	676					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CCCAGTGTCCCCTTAGTGGAT	0.428000													11	27					0	0	0.008291	0	0
SMU1	55234	broad.mit.edu	37	9	33056169	33056169	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:33056169G>A	ENST00000397149.3	-	9	1114	c.1064C>T	c.(1063-1065)gCa>gTa	p.A355V	SMU1_ENST00000536631.1_Missense_Mutation_p.A194V	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	355						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TGTAAATGTTGCTTCGTTAAC	0.358000													8	16					0	0	0.003080	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156913793	156913793	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:156913793C>T	ENST00000368194.3	-	32	4208	c.3169G>A	c.(3169-3171)Gac>Aac	p.D1057N	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.D433N|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.D1017N	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	1017	PH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGCTTGCTGTCTGAGGAGCCC	0.597000													24	89					0	0	0.003330	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27537382	27537382	+	RNA	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:27537382C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							AGAATGTTCTCAATTGTTGTA	0.408000													26	73					0	0	0.004656	0	0
NES	10763	broad.mit.edu	37	1	156639266	156639266	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:156639266C>G	ENST00000368223.3	-	4	4846	c.4714G>C	c.(4714-4716)Gag>Cag	p.E1572Q		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1572	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGGTCTCCCTCAGAGACTAGC	0.607000													11	85					0	0	0.008291	0	0
MAP2K5	5607	broad.mit.edu	37	15	67878233	67878233	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:67878233A>C	ENST00000178640.5	+	5	955	c.328A>C	c.(328-330)Aag>Cag	p.K110Q	MAP2K5_ENST00000354498.5_Missense_Mutation_p.K74Q|MAP2K5_ENST00000395476.2_Missense_Mutation_p.K110Q|MAP2K5_ENST00000560591.1_3'UTR	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	110					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						TTCAGCCTGCAAGCCTCCTGG	0.378000													6	39					0	0	0.001984	0	0
FLOT1	10211	broad.mit.edu	37	6	30698274	30698274	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:30698274C>G	ENST00000376389.3	-	11	1240	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	FLOT1_ENST00000456573.2_Missense_Mutation_p.K292N	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	340						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CTTCTGCCTTCTTGGCCATCT	0.592000													6	139					0	0	0.001168	0	0
SCRN1	9805	broad.mit.edu	37	7	29994843	29994843	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:29994843C>G	ENST00000426154.1	-	3	469	c.293G>C	c.(292-294)aGa>aCa	p.R98T	SCRN1_ENST00000416113.2_5'UTR|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000242059.5_Missense_Mutation_p.R98T|SCRN1_ENST00000409497.1_Missense_Mutation_p.R98T|SCRN1_ENST00000409570.1_Missense_Mutation_p.R98T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	98					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						AGCTGGCTCTCTGGTGTTGAT	0.502000													6	83					0	0	0.001168	0	0
CYP2S1	29785	broad.mit.edu	37	19	41712315	41712315	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:41712315T>A	ENST00000310054.4	+	9	1653	c.1437T>A	c.(1435-1437)agT>agA	p.S479R	CYP2S1_ENST00000542619.1_Missense_Mutation_p.S204R	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	479					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCACCGTCAGTGGCCTTTTCA	0.587000													55	108					0	0	0.003610	0	0
PCDHGA6	56109	broad.mit.edu	37	5	140755297	140755297	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:140755297C>A	ENST00000517434.1	+	1	1647	c.1647C>A	c.(1645-1647)agC>agA	p.S549R	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCACTGAGCCTGTTTGTGC	0.637000													77	86					2.23852e-25	2.87863e-25	0.003610	1	0
SIGLEC8	27181	broad.mit.edu	37	19	51955647	51955647	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:51955647C>T	ENST00000321424.3	-	7	1552	c.1486G>A	c.(1486-1488)Gaa>Aaa	p.E496K	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E387K|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E403K	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	496					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	p.E496K(1)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTCTGACTTCTTTGCTGGAG	0.512000													10	69					0	0	0.008291	0	0
LEO1	123169	broad.mit.edu	37	15	52258570	52258570	+	Missense_Mutation	SNP	C	C	T	rs138450382	byFrequency	TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:52258570C>T	ENST00000299601.5	-	2	250	c.190G>A	c.(190-192)Gat>Aat	p.D64N	LEO1_ENST00000315141.5_Missense_Mutation_p.D64N	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	64	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TCACTGTCATCTCCAAACAGT	0.443000													14	150					0	0	0.002450	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536578	27536578	+	RNA	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:27536578C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CCCTCCTGATCCTCTGCTTTC	0.522000													9	37					0	0	0.006214	0	0
VWA7	80737	broad.mit.edu	37	6	31737524	31737524	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:31737524G>A	ENST00000375686.3	-	9	1482	c.1245C>T	c.(1243-1245)ttC>ttT	p.F415F	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Silent_p.F415F|VWA7_ENST00000375688.4_Silent_p.F415F	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	415						extracellular region											AGGCATCCGTGAAGACAAAGA	0.587000													27	50					0	0	0.006320	0	0
NOX1	27035	broad.mit.edu	37	X	100104356	100104356	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:100104356C>G	ENST00000372966.3	-	11	1561	c.1356G>C	c.(1354-1356)ttG>ttC	p.L452F	NOX1_ENST00000372960.4_Missense_Mutation_p.L415F|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	452	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CCAGGGAAGTCAACAGGTTGT	0.453000													8	10					0	0	0.004482	0	0
CATSPERG	57828	broad.mit.edu	37	19	38849075	38849075	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:38849075G>C	ENST00000409235.3	+	13	1485	c.1370G>C	c.(1369-1371)cGa>cCa	p.R457P	CATSPERG_ENST00000410018.1_Missense_Mutation_p.R417P|CATSPERG_ENST00000215069.4_Missense_Mutation_p.R450P	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	457					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CGGTCAGCTCGAGGATTGGAG	0.582000													21	38					0	0	0.001882	0	0
LBP	3929	broad.mit.edu	37	20	36999438	36999438	+	Silent	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:36999438G>T	ENST00000217407.2	+	11	1367	c.1206G>T	c.(1204-1206)ctG>ctT	p.L402L		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	402					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CTGGGTTCCTGAAGCCAGGAA	0.537000													14	177					2.35188e-11	2.83017e-11	0.006122	1	0
NCF2	4688	broad.mit.edu	37	1	183546827	183546827	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:183546827G>C	ENST00000413720.1	-	3	547	c.273C>G	c.(271-273)atC>atG	p.I91M	NCF2_ENST00000367536.1_Missense_Mutation_p.I91M|NCF2_ENST00000367535.3_Missense_Mutation_p.I91M|NCF2_ENST00000418089.1_Missense_Mutation_p.I91M	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	91					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TAAGGTCTTTGATAGCCAAAT	0.453000													31	84					0	0	0.008361	0	0
KLK1	3816	broad.mit.edu	37	19	51322459	51322459	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:51322459C>G	ENST00000448701.2	-	6	1798	c.474G>C	c.(472-474)gaG>gaC	p.E158D	KLK1_ENST00000301420.2_Missense_Mutation_p.E260D			P06870	KLK1_HUMAN	kallikrein 1	260	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity	p.E260D(1)		breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCAGGAGTTCTCCGCTATGG	0.532000													9	88					0	0	0.006214	0	0
C10orf12	26148	broad.mit.edu	37	10	98741554	98741554	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:98741554C>G	ENST00000286067.2	+	1	514	c.407C>G	c.(406-408)tCa>tGa	p.S136*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	136										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAGATGATATCAACCTCCATC	0.443000													28	63					0	0	0.008361	0	0
RALGAPB	57148	broad.mit.edu	37	20	37187063	37187063	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:37187063C>G	ENST00000262879.6	+	23	3782	c.3498C>G	c.(3496-3498)ttC>ttG	p.F1166L	RALGAPB_ENST00000397042.3_Missense_Mutation_p.F1162L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.F944L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.F1166L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1166	Rap-GAP.				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTTTATTTTCTATATGAAGC	0.348000													9	107					0	0	0.006214	0	0
B3GNT2	10678	broad.mit.edu	37	2	62449939	62449939	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:62449939C>T	ENST00000301998.4	+	2	836	c.584C>T	c.(583-585)tCa>tTa	p.S195L	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S195L	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	195						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			CCCGACCTTTCAGATATGCTG	0.512000													23	42					0	0	0.002780	0	0
GPR112	139378	broad.mit.edu	37	X	135430006	135430006	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:135430006G>A	ENST00000394143.1	+	6	4432	c.4141G>A	c.(4141-4143)Gaa>Aaa	p.E1381K	GPR112_ENST00000287534.4_Missense_Mutation_p.E1318K|GPR112_ENST00000412101.1_Missense_Mutation_p.E1176K|GPR112_ENST00000394141.1_Missense_Mutation_p.E1176K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1381K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1381					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCCTGAAAAGGAAAGCACGAG	0.463000													9	106					0	0	0.004482	0	0
TRIM54	57159	broad.mit.edu	37	2	27522159	27522159	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:27522159G>A	ENST00000296098.4	+	3	658	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K	TRIM54_ENST00000380075.2_Missense_Mutation_p.E130K	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	130					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGAGGAGCATGAAGAAGAGAA	0.572000													20	35					0	0	0.008871	0	0
C1orf172	126695	broad.mit.edu	37	1	27278790	27278790	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:27278790C>G	ENST00000320567.5	-	2	170	c.82G>C	c.(82-84)Gag>Cag	p.E28Q		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	28	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TCATATGTCTCCAGACATAGC	0.622000													21	53					0	0	0.002299	0	0
GPR45	11250	broad.mit.edu	37	2	105859024	105859024	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:105859024G>C	ENST00000258456.1	+	1	825	c.709G>C	c.(709-711)Gac>Cac	p.D237H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	237						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGACAGCCTGGACCTGCGGCA	0.642000													19	86					0	0	0.006122	0	0
MAPK6	5597	broad.mit.edu	37	15	52356583	52356583	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:52356583G>C	ENST00000261845.5	+	6	2359	c.1552G>C	c.(1552-1554)Gaa>Caa	p.E518Q	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	518					cell cycle		ATP binding|MAP kinase activity			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		GGCTGGAAAAGAAAGGGAAAA	0.378000													3	24					0	0	0.004672	0	0
MGA	23269	broad.mit.edu	37	15	42005481	42005481	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:42005481C>T	ENST00000219905.7	+	9	3398	c.3217C>T	c.(3217-3219)Cga>Tga	p.R1073*	MGA_ENST00000389936.4_Nonsense_Mutation_p.R1073*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R1073*|MGA_ENST00000566586.1_Nonsense_Mutation_p.R1073*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R1073*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1073						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCACTGCCGCCGACCAGACTG	0.473000													24	31					0	0	0.002780	0	0
BRAF	673	broad.mit.edu	37	7	140453193	140453193	+	Splice_Site	SNP	T	T	C	rs121913370		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:140453193T>C	ENST00000288602.6	-	15	1802	c.1741_splice	c.e15-1	p.N581_splice		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	581	Protein kinase.		N -> D (in CFC syndrome).|N -> S (in a colorectal adenocarcinoma sample; somatic mutation).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.N581S(9)|p.N581I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AAGAAATATATCTGAGGTGTA	0.358000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				17	39					0	0	0.007413	0	0
TNFRSF25	8718	broad.mit.edu	37	1	6522112	6522112	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:6522112C>A	ENST00000377782.3	-	9	961	c.894G>T	c.(892-894)caG>caT	p.Q298H	TNFRSF25_ENST00000351959.5_Missense_Mutation_p.Q252H|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.Q106H|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.Q289H|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.Q244H	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	289					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		AGAGCGCCTCCTGGGTCTCGG	0.617000													41	73					5.04308e-16	6.26999e-16	0.006230	1	0
RINT1	60561	broad.mit.edu	37	7	105177117	105177117	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:105177117G>C	ENST00000257700.2	+	3	425	c.194G>C	c.(193-195)gGa>gCa	p.G65A		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	65					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGGAAGTTGGAAATGACCTT	0.333000													23	48					0	0	0.002299	0	0
BDP1	55814	broad.mit.edu	37	5	70793168	70793168	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:70793168C>G	ENST00000358731.4	+	13	2134	c.1871C>G	c.(1870-1872)tCa>tGa	p.S624*	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	624					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CCCAATTTGTCAAGGGCTGGG	0.358000													23	43					0	0	0.003330	0	0
FAT4	79633	broad.mit.edu	37	4	126389741	126389741	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:126389741G>A	ENST00000394329.3	+	11	11987	c.11974G>A	c.(11974-11976)Gac>Aac	p.D3992N	FAT4_ENST00000335110.5_Missense_Mutation_p.D2255N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3992	Laminin G-like 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCAAGCTTGGACCCCAATAA	0.403000													12	19					0	0	0.001368	0	0
C12orf71	728858	broad.mit.edu	37	12	27234319	27234319	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:27234319C>T	ENST00000429849.2	-	2	628	c.598G>A	c.(598-600)Gac>Aac	p.D200N		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	200										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						GAAGGAGTGTCATCCTTCTCT	0.562000													9	112					0	0	0.008291	0	0
CLIP1	6249	broad.mit.edu	37	12	122758668	122758668	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:122758668C>G	ENST00000358808.2	-	24	4129	c.3975G>C	c.(3973-3975)aaG>aaC	p.K1325N	CLIP1_ENST00000540539.1_Missense_Mutation_p.K15N|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000537178.1_Missense_Mutation_p.K1290N|CLIP1_ENST00000302528.7_Missense_Mutation_p.K1325N|CLIP1_ENST00000545889.1_Missense_Mutation_p.K911N|CLIP1_ENST00000540338.1_Missense_Mutation_p.K1336N|CLIP1_ENST00000361654.4_Missense_Mutation_p.K1214N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1336					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGTCTTGATTCTTCCTTTGAA	0.358000													12	168					0	0	0.000978	0	0
NOL9	79707	broad.mit.edu	37	1	6610604	6610604	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:6610604G>A	ENST00000377705.5	-	2	500	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_024654.4	NP_078930.3	Q5SY16	NOL9_HUMAN	nucleolar protein 9	156					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCTTGGCTGATGGTAAAAC	0.468000													35	62					0	0	0.005524	0	0
DTNA	1837	broad.mit.edu	37	18	32464694	32464694	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr18:32464694C>T	ENST00000283365.9	+	21	2397	c.2046C>T	c.(2044-2046)gtC>gtT	p.V682V	DTNA_ENST00000399113.3_Silent_p.V739V|DTNA_ENST00000269190.7_Silent_p.V740V|DTNA_ENST00000399121.5_Silent_p.V686V|DTNA_ENST00000556414.3_Silent_p.V391V|DTNA_ENST00000444659.1_Silent_p.V739V|DTNA_ENST00000591182.1_Silent_p.V387V|DTNA_ENST00000598334.1_Intron|DTNA_ENST00000598142.1_Silent_p.V682V|DTNA_ENST00000269192.7_Silent_p.V448V|DTNA_ENST00000601125.1_Silent_p.V361V|DTNA_ENST00000592449.1_Intron|DTNA_ENST00000399097.3_Silent_p.V387V|DTNA_ENST00000595022.1_Silent_p.V679V|DTNA_ENST00000590831.2_Silent_p.V165V	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	739					neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						ACCCACAGGTCAGCTTGCAAG	0.443000													10	275					0	0	0.001368	0	0
EP400	57634	broad.mit.edu	37	12	132547189	132547189	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:132547189G>T	ENST00000333577.4	+	48	8494	c.8385G>T	c.(8383-8385)caG>caT	p.Q2795H	EP400_ENST00000389562.2_Missense_Mutation_p.Q2758H|EP400_ENST00000330386.6_Missense_Mutation_p.Q2678H|EP400_ENST00000332482.4_Missense_Mutation_p.Q2722H|EP400_ENST00000389561.2_Missense_Mutation_p.Q2759H			Q96L91	EP400_HUMAN	E1A binding protein p400	2795					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AAGTTCCACAGATCCAGGGCC	0.602000													29	52					1.88708e-17	2.36486e-17	0.008361	1	0
DOCK10	55619	broad.mit.edu	37	2	225698911	225698911	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:225698911G>T	ENST00000409592.3	-	26	3015	c.2902C>A	c.(2902-2904)Ctt>Att	p.L968I	DOCK10_ENST00000258390.7_Missense_Mutation_p.L974I			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	974							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GATTTCAAAAGACCAGTCACA	0.393000													19	56					3.8784e-16	4.82959e-16	0.001882	1	0
SORT1	6272	broad.mit.edu	37	1	109860494	109860494	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:109860494C>G	ENST00000256637.6	-	16	2180	c.2122G>C	c.(2122-2124)Gaa>Caa	p.E708Q	SORT1_ENST00000538502.1_Missense_Mutation_p.E571Q	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	708	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GTTAGGTGTTCTTCTCTTCCG	0.483000													7	92					0	0	0.003080	0	0
UGGT2	55757	broad.mit.edu	37	13	96553181	96553181	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:96553181C>T	ENST00000376747.3	-	22	2584	c.2514G>A	c.(2512-2514)aaG>aaA	p.K838K		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	838					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CAAAAGCATTCTTATCCATCC	0.279000													8	21					0	0	0.004482	0	0
TENM4	26011	broad.mit.edu	37	11	78383281	78383281	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:78383281G>A	ENST00000278550.7	-	31	6052	c.5590C>T	c.(5590-5592)Ctg>Ttg	p.L1864L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGGTCGTACAGAATCCGAAGG	0.552000													5	52					0	0	0.000602	0	0
UPRT	139596	broad.mit.edu	37	X	74494434	74494434	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:74494434G>C	ENST00000373379.1	+	1	510	c.345G>C	c.(343-345)atG>atC	p.M115I	UPRT_ENST00000373383.4_Missense_Mutation_p.M115I|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	115					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						TGCTGCCTATGAATGATCAGA	0.577000													7	6					0	0	0.004482	0	0
SHROOM3	57619	broad.mit.edu	37	4	77652041	77652041	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:77652041A>G	ENST00000296043.6	+	4	1493	c.540A>G	c.(538-540)atA>atG	p.I180M	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	180					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TGATGCAGATATCTCAGGGTA	0.527000													5	116					0	0	0.000602	0	0
SLC25A32	81034	broad.mit.edu	37	8	104413876	104413876	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:104413876T>A	ENST00000297578.4	-	6	846	c.680A>T	c.(679-681)tAt>tTt	p.Y227F	SLC25A32_ENST00000523701.1_5'UTR|SLC25A32_ENST00000543107.1_Missense_Mutation_p.Y95F	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32	227					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	AACAGATATATATTCTACTGT	0.313000													6	65					0	0	0.001984	0	0
ZBED1	9189	broad.mit.edu	37	X	2407787	2407787	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:2407787G>C	ENST00000381223.4	-	2	1177	c.974C>G	c.(973-975)tCt>tGt	p.S325C	ZBED1_ENST00000381218.3_Missense_Mutation_p.S325C|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.S325C	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	325						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCCACGGCAGACTGCTGGAA	0.632000													17	58					0	0	0.004007	0	0
OR12D3	81797	broad.mit.edu	37	6	29343053	29343053	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:29343053G>A	ENST00000396806.3	-	1	15	c.12C>T	c.(10-12)gtC>gtT	p.V4V	OR5V1_ENST00000377154.1_Intron	NM_030959.2	NP_112221.1	Q9UGF7	O12D3_HUMAN	olfactory receptor, family 12, subfamily D, member 3	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)	23						TCATTGTAGTGACATTCTCCA	0.333000													5	8					0	0	0.000602	0	0
LRP1B	53353	broad.mit.edu	37	2	141751689	141751689	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:141751689G>T	ENST00000389484.3	-	16	3490	c.2519C>A	c.(2518-2520)gCa>gAa	p.A840E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	840					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GTGAGGTAGTGCTTCTCCAGG	0.393000										TSP Lung(27;0.18)			19	40					1.33834e-09	1.57675e-09	0.007413	1	0
EEF1B2	1933	broad.mit.edu	37	2	207027212	207027212	+	Splice_Site	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:207027212G>A	ENST00000392222.2	+	5	772		c.e5-1		EEF1B2_ENST00000392221.1_Splice_Site|EEF1B2_ENST00000236957.5_Splice_Site	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2							cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.?(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						ATTGTTTTTAGAACCTGCACT	0.363000													15	135					0	0	0.004007	0	0
IGHV4-61	28391	broad.mit.edu	37	14	107095440	107095440	+	RNA	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:107095440A>T	ENST00000390630.2	-	0	147																											ACCCCTGTGAACAGAGAGACC	0.627000													7	51					0	0	0.001984	0	0
KLF10	7071	broad.mit.edu	37	8	103663609	103663609	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:103663609G>A	ENST00000395884.3	-	3	1820	c.918C>T	c.(916-918)gtC>gtT	p.V306V	KLF10_ENST00000285407.6_Silent_p.V317V	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	317					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			CCACAAACATGACAGCGCCTT	0.592000													8	96					0	0	0.006214	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620402	80620402	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:80620402G>T	ENST00000466387.1	+	12	1847	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	CTNNA2_ENST00000541047.1_Missense_Mutation_p.D375Y|CTNNA2_ENST00000540488.1_Missense_Mutation_p.D375Y|CTNNA2_ENST00000361291.4_Missense_Mutation_p.D409Y|CTNNA2_ENST00000343114.3_Missense_Mutation_p.D54Y|CTNNA2_ENST00000496558.1_Missense_Mutation_p.D375Y|CTNNA2_ENST00000402739.4_Missense_Mutation_p.D375Y			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	375					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.D375Y(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAAACAAGAGATCTAAGGAG	0.333000													16	35					6.94344e-10	8.21728e-10	0.006122	1	0
ENOSF1	55556	broad.mit.edu	37	18	697318	697318	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr18:697318G>C	ENST00000251101.7	-	3	319	c.231C>G	c.(229-231)ctC>ctG	p.L77L	ENOSF1_ENST00000539164.1_Silent_p.L77L|ENOSF1_ENST00000340116.7_Silent_p.L98L|ENOSF1_ENST00000580982.1_Intron|ENOSF1_ENST00000383578.3_Intron	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	77					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGTCCTTGTTGAGCACATGGT	0.438000													63	261					0	0	0.003610	0	0
METTL16	79066	broad.mit.edu	37	17	2323656	2323656	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:2323656C>A	ENST00000263092.5	-	10	1424	c.1297G>T	c.(1297-1299)Ggg>Tgg	p.G433W	METTL16_ENST00000538844.1_Missense_Mutation_p.G215W|METTL16_ENST00000571669.1_5'UTR	NM_024086.3	NP_076991.3	Q86W50	MET16_HUMAN	methyltransferase like 16	433							methyltransferase activity			kidney(2)|large_intestine(9)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	19						AGAGCAGGCCCACAGGGGGTC	0.647000													56	36					6.81593e-30	8.80811e-30	0.003610	1	0
IGKV1-16	28938	broad.mit.edu	37	2	89399595	89399595	+	RNA	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:89399595A>G	ENST00000479981.1	-	0	134																											TGTCTCCTACAGATGCAGACA	0.468000													47	129					0	0	0.003610	0	0
HOMER2	9455	broad.mit.edu	37	15	83527843	83527843	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:83527843G>A	ENST00000304231.8	-	5	657	c.465C>T	c.(463-465)gcC>gcT	p.A155A	HOMER2_ENST00000450735.2_Silent_p.A144A|HOMER2_ENST00000399166.2_Silent_p.A144A|HOMER2_ENST00000426485.1_Silent_p.A155A	NM_199330.2	NP_955362.1	Q9NSB8	HOME2_HUMAN	homer homolog 2 (Drosophila)	155					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						TGGCTGGACCGGCGTGAGAGG	0.493000													38	121					0	0	0.005524	0	0
EPB41L5	57669	broad.mit.edu	37	2	120885298	120885298	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:120885298G>C	ENST00000263713.5	+	17	1586	c.1372G>C	c.(1372-1374)Gac>Cac	p.D458H	EPB41L5_ENST00000452780.1_Missense_Mutation_p.D458H|EPB41L5_ENST00000443902.2_Missense_Mutation_p.D458H	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	458						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						GAATAGCCCAGACTTATTGGA	0.388000													10	63					0	0	0.006214	0	0
C11orf63	79864	broad.mit.edu	37	11	122817324	122817324	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:122817324G>A	ENST00000227349.2	+	6	2050	c.1753G>A	c.(1753-1755)Gaa>Aaa	p.E585K	C11orf63_ENST00000531316.1_Missense_Mutation_p.E585K	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	585										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAGCCCAGTGAAGGGGCCTT	0.512000													7	44					0	0	0.001984	0	0
TC2N	123036	broad.mit.edu	37	14	92280051	92280051	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:92280051G>C	ENST00000435962.2	-	2	386	c.63C>G	c.(61-63)caC>caG	p.H21Q	TC2N_ENST00000360594.5_Missense_Mutation_p.H21Q|TC2N_ENST00000340892.5_Missense_Mutation_p.H21Q|TC2N_ENST00000556018.1_Missense_Mutation_p.H21Q	NM_001128596.1	NP_001122068.1	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	21						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		ACTCACAGTTGTGTTTTTCTG	0.318000													7	25					0	0	0.001984	0	0
ACSL6	23305	broad.mit.edu	37	5	131307302	131307302	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:131307302C>T	ENST00000379264.2	-	14	1483	c.1375G>A	c.(1375-1377)Gga>Aga	p.G459R	ACSL6_ENST00000379240.1_Missense_Mutation_p.G434R|ACSL6_ENST00000544770.1_Missense_Mutation_p.G343R|ACSL6_ENST00000379246.1_Missense_Mutation_p.G445R|ACSL6_ENST00000379244.1_Missense_Mutation_p.G434R|ACSL6_ENST00000379255.1_Missense_Mutation_p.G359R|ACSL6_ENST00000357096.1_Missense_Mutation_p.G359R|ACSL6_ENST00000543479.1_Missense_Mutation_p.G434R|ACSL6_ENST00000379249.3_Missense_Mutation_p.G434R|ACSL6_ENST00000379272.2_Missense_Mutation_p.G449R|ACSL6_ENST00000296869.4_Missense_Mutation_p.G459R|ACSL6_ENST00000431707.1_Missense_Mutation_p.G414R	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	434					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGGCTGCTCCAGTAACAATC	0.527000													7	10					0	0	0.003080	0	0
DBNDD2	55861	broad.mit.edu	37	20	44037105	44037105	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:44037105G>A	ENST00000372720.3	+	2	523	c.292G>A	c.(292-294)Gac>Aac	p.D98N	DBNDD2_ENST00000372712.2_5'UTR|DBNDD2_ENST00000357275.2_5'UTR|DBNDD2_ENST00000372722.3_5'UTR|DBNDD2_ENST00000372710.3_Missense_Mutation_p.D102N|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372717.1_5'UTR|DBNDD2_ENST00000360981.4_5'UTR|DBNDD2_ENST00000372723.3_5'UTR|SYS1-DBNDD2_ENST00000452133.1_Silent_p.*79*	NM_018478.3	NP_060948.3	Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	98					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CGCAGGAGCTGACATGGACCC	0.592000													26	88					0	0	0.005443	0	0
OR2L13	284521	broad.mit.edu	37	1	248262905	248262905	+	Silent	SNP	C	C	A	rs139493421		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:248262905C>A	ENST00000366478.2	+	3	565	c.228C>A	c.(226-228)acC>acA	p.T76T	OR2L13_ENST00000358120.2_Silent_p.T76T	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCTCCACCACCGTCCCCAAGA	0.537000													58	202					3.76997e-23	4.80869e-23	0.003610	1	0
PRAMEF11	440560	broad.mit.edu	37	1	12888501	12888501	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:12888501C>G	ENST00000535591.1	-	2	218	c.23G>C	c.(22-24)cGc>cCc	p.R8P		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	8										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCCTCACAGCGTCTCCTGCT	0.632000													7	131					0	0	0.003080	0	0
PSD2	84249	broad.mit.edu	37	5	139216519	139216519	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:139216519C>G	ENST00000274710.3	+	10	1732	c.1527C>G	c.(1525-1527)ctC>ctG	p.L509L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	509					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACAGGCGCTCAGTGCCACCA	0.617000													23	53					0	0	0.003954	0	0
MSI1	4440	broad.mit.edu	37	12	120800894	120800894	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:120800894C>T	ENST00000257552.2	-	6	442	c.354G>A	c.(352-354)gtG>gtA	p.V118V		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	118	RRM 2.				nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCGTGGTGTTCACCGACAGCC	0.547000													56	120					0	0	0.003610	0	0
GNL3	26354	broad.mit.edu	37	3	52725623	52725623	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:52725623G>C	ENST00000394799.2	+	9	1021	c.811G>C	c.(811-813)Ggt>Cgt	p.G271R	GNL3_ENST00000418458.1_Missense_Mutation_p.G283R	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	283	G.				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		GTGTAATGTTGGTGTATCCAT	0.338000													3	31					0	0	0.004672	0	0
BIVM	54841	broad.mit.edu	37	13	103459678	103459678	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:103459678G>C	ENST00000257336.1	+	3	740	c.61G>C	c.(61-63)Gag>Cag	p.E21Q	BIVM_ENST00000491929.1_3'UTR|BIVM_ENST00000419638.1_Missense_Mutation_p.E21Q|BIVM_ENST00000448849.2_Intron	NM_017693.3	NP_060163.2			basic, immunoglobulin-like variable motif containing											endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GCACAAATCTGAGAGAAAGTC	0.418000													4	45					0	0	0.009096	0	0
KANSL1L	151050	broad.mit.edu	37	2	210940329	210940329	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:210940329A>G	ENST00000281772.9	-	6	1965	c.1702T>C	c.(1702-1704)Ttc>Ctc	p.F568L	KANSL1L_ENST00000452086.1_Missense_Mutation_p.F568L|KANSL1L_ENST00000457374.1_Missense_Mutation_p.F568L|KANSL1L_ENST00000418791.1_Missense_Mutation_p.F568L	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN	KAT8 regulatory NSL complex subunit 1-like	568																	CGTTTGTGGAAACTCTGAAGT	0.423000													16	41					0	0	0.006122	0	0
AKNA	80709	broad.mit.edu	37	9	117138981	117138981	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:117138981C>G	ENST00000307564.4	-	3	1267	c.1106G>C	c.(1105-1107)aGa>aCa	p.R369T	AKNA_ENST00000223791.3_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.R288T|AKNA_ENST00000312033.3_Missense_Mutation_p.R369T|AKNA_ENST00000374088.3_Missense_Mutation_p.R369T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	369					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TTTGGGGAATCTCACCCGGGG	0.607000													14	34					0	0	0.001855	0	0
FNBP4	23360	broad.mit.edu	37	11	47765529	47765529	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:47765529C>T	ENST00000263773.5	-	8	1444	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	478										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						TCTGGAGTATCTCGTCCAGTT	0.388000													6	91					0	0	0.001168	0	0
RTN1	6252	broad.mit.edu	37	14	60213200	60213200	+	Splice_Site	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:60213200C>A	ENST00000267484.5	-	2	577		c.e2-1			NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1						neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CCTGCCACACCTATGAATCAA	0.507000													26	50					1.74197e-06	1.94735e-06	0.006320	1	0
RBM27	54439	broad.mit.edu	37	5	145616956	145616956	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:145616956C>T	ENST00000265271.5	+	8	1406	c.1240C>T	c.(1240-1242)Cct>Tct	p.P414S	RBM27_ENST00000506502.1_Missense_Mutation_p.P414S	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	414	Pro-rich.				mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGACTACCTCCTCCTTTACC	0.438000													4	46					0	0	0.001168	0	0
LPPR5	163404	broad.mit.edu	37	1	99470094	99470094	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:99470094C>A	ENST00000370188.3	-	1	494	c.134G>T	c.(133-135)tGc>tTc	p.C45F	LPPR5_ENST00000263177.4_Missense_Mutation_p.C45F|RP5-896L10.1_ENST00000425113.1_RNA	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		45						integral to membrane	hydrolase activity										GCTGTCGTGGCAGAAGAAGCC	0.637000													16	47					4.14922e-12	5.02374e-12	0.004007	1	0
ITGB6	3694	broad.mit.edu	37	2	160983017	160983017	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:160983017C>T	ENST00000283249.2	-	11	1993	c.1756G>A	c.(1756-1758)Gaa>Aaa	p.E586K	ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000428609.2_Missense_Mutation_p.E544K|ITGB6_ENST00000409872.1_Missense_Mutation_p.E586K			P18564	ITB6_HUMAN	integrin, beta 6	586	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACTCCATCTTCAGAGACGCAG	0.582000													22	42					0	0	0.010504	0	0
TTN	7273	broad.mit.edu	37	2	179398448	179398448	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:179398448G>A	ENST00000589042.1	-	358	103118	c.102894C>T	c.(102892-102894)atC>atT	p.I34298I	TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000359218.5_Silent_p.I25358I|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000591111.1_Silent_p.I32657I|TTN_ENST00000342992.6_Silent_p.I31730I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.I25233I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342175.6_Silent_p.I25425I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32657	Ig-like 152.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCTGGTTTGATTTTCTGAC	0.383000													11	44					0	0	0.008291	0	0
DLG5	9231	broad.mit.edu	37	10	79576825	79576825	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:79576825C>T	ENST00000372391.2	-	19	3819	c.3814G>A	c.(3814-3816)Gaa>Aaa	p.E1272K	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.E932K	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1272					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTAATGCGTTCCGCCTTGAAC	0.493000													8	97					0	0	0.006214	0	0
CEP170	9859	broad.mit.edu	37	1	243329025	243329025	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:243329025G>A	ENST00000366542.1	-	13	2288	c.2237C>T	c.(2236-2238)gCa>gTa	p.A746V	RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.A648V|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.A648V	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	746						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTGAAGTTTTGCTAATGTTTG	0.398000													9	234					0	0	0.004482	0	0
PGBD1	84547	broad.mit.edu	37	6	28251740	28251740	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:28251740C>T	ENST00000405948.2	+	2	570	c.150C>T	c.(148-150)ttC>ttT	p.F50F	PGBD1_ENST00000259883.3_Silent_p.F50F	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	50	SCAN box.				viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TTCGGCACTTCTGCTACCAGG	0.567000													5	60					0	0	0.000602	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531298	140531298	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:140531298C>G	ENST00000231136.1	+	1	1460	c.1460C>G	c.(1459-1461)tCg>tGg	p.S487W	PCDHB6_ENST00000543635.1_Missense_Mutation_p.S351W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		487	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCACCTACTCGCTGCTGCCG	0.647000													52	106					0	0	0.003610	0	0
USE1	55850	broad.mit.edu	37	19	17329197	17329197	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:17329197G>C	ENST00000445667.2	+	6	479	c.419G>C	c.(418-420)aGa>aCa	p.R140T	USE1_ENST00000379776.4_Missense_Mutation_p.R140T|USE1_ENST00000596136.1_Missense_Mutation_p.R140T|USE1_ENST00000263897.5_Missense_Mutation_p.R140T|USE1_ENST00000595101.1_3'UTR			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	140					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						GTAAGGAAGAGAACGTGAGTG	0.587000													4	31					0	0	0.000602	0	0
CER1	9350	broad.mit.edu	37	9	14722314	14722314	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:14722314C>A	ENST00000380911.3	-	1	401	c.357G>T	c.(355-357)atG>atT	p.M119I		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	119					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		TCTCCATTTTCATTCCATCTA	0.507000													18	52					1.67942e-08	1.94654e-08	0.006122	1	0
CEP290	80184	broad.mit.edu	37	12	88442990	88442990	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:88442990C>T	ENST00000552810.1	-	54	7754	c.7411G>A	c.(7411-7413)Gaa>Aaa	p.E2471K	CEP290_ENST00000309041.7_Missense_Mutation_p.E2473K|CEP290_ENST00000547691.2_Missense_Mutation_p.E1531K|CEP290_ENST00000397838.3_Missense_Mutation_p.E1531K|C12orf29_ENST00000356891.3_3'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	2471					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						ACAGGACTTTCTTCTTCATCT	0.303000													11	137					0	0	0.001855	0	0
SLC25A11	8402	broad.mit.edu	37	17	4841351	4841351	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:4841351C>T	ENST00000225665.7	-	7	1096	c.756G>A	c.(754-756)atG>atA	p.M252I	SLC25A11_ENST00000544061.2_Missense_Mutation_p.M201I	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	252					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						TCCCATCAATCATCCGCATGT	0.622000													49	68					0	0	0.003610	0	0
TBX18	9096	broad.mit.edu	37	6	85457693	85457693	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:85457693G>C	ENST00000369663.5	-	5	1221	c.884C>G	c.(883-885)gCa>gGa	p.A295G	TBX18_ENST00000606521.1_5'UTR|TBX18_ENST00000606784.1_Missense_Mutation_p.A137G	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	295					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		AAAGGAGAATGCCTTTACTCC	0.458000													11	22					0	0	0.000978	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135741942	135741942	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:135741942G>A	ENST00000334546.2	+	1	366	c.31G>A	c.(31-33)Gac>Aac	p.D11N	PPP2R3A_ENST00000490467.1_Intron|PPP2R3A_ENST00000264977.3_Intron	NM_181897.2	NP_871626.1	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	0					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCTACGAAGGGACCCGGATTT	0.438000													4	82					0	0	0.009096	0	0
GRIK1	2897	broad.mit.edu	37	21	30959742	30959742	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:30959742C>T	ENST00000399914.1	-	11	2213	c.1692G>A	c.(1690-1692)tgG>tgA	p.W564*	GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W581*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W579*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W579*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W579*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W564*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W581*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W579*|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W564*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	579					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCACATACATCCAAATATCTG	0.478000													9	32					0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179466221	179466221	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:179466221C>G	ENST00000589042.1	-	287	55727	c.55503G>C	c.(55501-55503)aaG>aaC	p.K18501N	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K9561N|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K16860N|TTN_ENST00000342992.6_Missense_Mutation_p.K15933N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K9436N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K9628N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16860	Ig-like 106.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTCTGGCATCTTCCATGAAA	0.443000													5	172					0	0	0.000602	0	0
ESR1	2099	broad.mit.edu	37	6	152129107	152129107	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:152129107G>C	ENST00000440973.1	+	3	430	c.60G>C	c.(58-60)ggG>ggC	p.G20G	ESR1_ENST00000456483.2_Silent_p.G20G|ESR1_ENST00000206249.3_Silent_p.G20G|ESR1_ENST00000443427.1_Silent_p.G20G|ESR1_ENST00000338799.5_Silent_p.G20G|ESR1_ENST00000406599.1_Silent_p.G20G	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	20	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	AGATCCAAGGGAACGAGCTGG	0.652000													7	14					0	0	0.001984	0	0
SP1	6667	broad.mit.edu	37	12	53777373	53777373	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:53777373C>T	ENST00000426431.2	+	3	1681	c.1621C>T	c.(1621-1623)Caa>Taa	p.Q541*	SP1_ENST00000327443.4_Nonsense_Mutation_p.Q548*	NM_003109.1	NP_003100.1	P08047	SP1_HUMAN	Sp1 transcription factor	548	Transactivation domain C (highly charged).				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCACCCAATTCAAGGCCTGCC	0.488000													30	77					0	0	0.002096	0	0
VHLL	391104	broad.mit.edu	37	1	156268776	156268776	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:156268776C>A	ENST00000339922.3	-	1	652	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	69	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					TTGAGCCACACAGGCAGCACG	0.602000													29	56					7.38237e-10	8.72361e-10	0.006320	1	0
OR2W1	26692	broad.mit.edu	37	6	29012677	29012677	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:29012677G>A	ENST00000377175.1	-	1	340	c.276C>T	c.(274-276)atC>atT	p.I92I		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						CCACATAGCTGATGGTCTTAT	0.428000													5	26					0	0	0.000602	0	0
PRR23C	389152	broad.mit.edu	37	3	138762887	138762887	+	Silent	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:138762887G>T	ENST00000413199.1	-	1	847	c.576C>A	c.(574-576)ggC>ggA	p.G192G	MRPS22_ENST00000495075.1_Intron|PRR23C_ENST00000502927.2_Silent_p.G192G	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	192	Pro-rich.							p.G192G(2)		breast(2)|lung(7)|skin(2)	11						CTCGGATGGGGCCCTCCCGGT	0.647000													4	21					0.00024832	0.000271805	0.009096	1	0
NACAP1	83955	broad.mit.edu	37	8	102381581	102381581	+	RNA	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:102381581G>T	ENST00000419462.1	+	0	993					NR_002182.1																						AGGTGAAGCTGTCTCAAACAT	0.408000													20	55					0.000958276	0.00104455	0.007413	1	0
SEZ6L2	26470	broad.mit.edu	37	16	29891314	29891314	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:29891314G>A	ENST00000308713.5	-	9	1971	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	SEZ6L2_ENST00000346932.5_Missense_Mutation_p.R368C|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.R412C|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.R438C	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	482	Sushi 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCCCTGGGCGATACTCAGGG	0.587000													11	97					0	0	0.000978	0	0
TTLL13	440307	broad.mit.edu	37	15	90799390	90799390	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:90799390C>T	ENST00000438251.1	+	6	856	c.566C>T	c.(565-567)tCc>tTc	p.S189F	TTLL13_ENST00000339615.5_Missense_Mutation_p.S189F|RP11-697E2.6_ENST00000561573.1_Intron			A6NNM8	TTL13_HUMAN	tubulin tyrosine ligase-like family, member 13	189	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			GACTTCCAGTCCTACGGTCGT	0.552000													8	109					0	0	0.004482	0	0
IDH3B	3420	broad.mit.edu	37	20	2641147	2641147	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:2641147C>T	ENST00000380843.4	-	7	651	c.621G>A	c.(619-621)aaG>aaA	p.K207K	IDH3B_ENST00000380851.5_Silent_p.K207K|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	207					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CCCGCCCCTTCTTGGTGGCAT	0.527000													8	69					0	0	0.003080	0	0
LINGO2	158038	broad.mit.edu	37	9	27949418	27949418	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:27949418G>T	ENST00000379992.2	-	6	1701	c.1252C>A	c.(1252-1254)Cag>Aag	p.Q418K	LINGO2_ENST00000308675.3_Missense_Mutation_p.Q418K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	418	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		AGCAGATGCTGCAACTTCTTT	0.493000													19	41					3.32936e-07	3.77551e-07	0.006122	1	0
SPHKAP	80309	broad.mit.edu	37	2	228883781	228883781	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:228883781C>T	ENST00000392056.3	-	7	1835	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.E597K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	597						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GGCATGGCTTCAGAAGCCTCA	0.572000													5	37					0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	215844497	215844497	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:215844497C>A	ENST00000366943.2	-	64	14336	c.13950G>T	c.(13948-13950)caG>caT	p.Q4650H	USH2A_ENST00000307340.3_Missense_Mutation_p.Q4650H			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4650	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAACAGTTGGCTGGAATCCTC	0.453000										HNSCC(13;0.011)			31	91					5.6714e-07	6.42215e-07	0.002096	1	0
USP26	83844	broad.mit.edu	37	X	132160483	132160483	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:132160483G>T	ENST00000511190.1	-	6	2235	c.1766C>A	c.(1765-1767)cCt>cAt	p.P589H	USP26_ENST00000406273.1_Missense_Mutation_p.P589H|USP26_ENST00000370832.1_Missense_Mutation_p.P589H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	589					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTTGTTGCAGGCCATGATAC	0.408000													21	11					2.98393e-07	3.39358e-07	0.002780	1	0
AKR1B15	441282	broad.mit.edu	37	7	134252980	134252980	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:134252980C>A	ENST00000457545.2	+	4	481	c.221C>A	c.(220-222)gCc>gAc	p.A74D	AKR1B15_ENST00000423958.1_Missense_Mutation_p.A46D	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	74							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						ATTGACTGTGCCTATTTCTAT	0.478000													45	72					6.57855e-14	8.11492e-14	0.009718	1	0
HECTD4	283450	broad.mit.edu	37	12	112607317	112607317	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:112607317G>C	ENST00000550722.1	-	70	12155	c.11760C>G	c.(11758-11760)gtC>gtG	p.V3920V	HECTD4_ENST00000430131.2_Silent_p.V3644V|HECTD4_ENST00000377560.5_Silent_p.V3894V	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		TGGTGCCATGGACCTCCTCGC	0.617000													6	15					0	0	0.001168	0	0
RCOR3	55758	broad.mit.edu	37	1	211486135	211486135	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:211486135G>A	ENST00000367005.4	+	10	1116	c.975G>A	c.(973-975)aaG>aaA	p.K325K	RCOR3_ENST00000526255.1_3'UTR|RCOR3_ENST00000367006.4_Intron|RCOR3_ENST00000419091.2_Silent_p.K383K|RCOR3_ENST00000452621.2_Silent_p.K383K	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	325	SANT 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		GCCAAGTGAAGAACTTCTTTG	0.423000													30	61					0	0	0.008361	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27536594	27536594	+	RNA	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:27536594C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							CTTTCCACCTCTTTGAAGTGC	0.532000													11	33					0	0	0.008291	0	0
ABCC4	10257	broad.mit.edu	37	13	95818482	95818482	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:95818482G>C	ENST00000376887.4	-	15	2078	c.1964C>G	c.(1963-1965)tCa>tGa	p.S655*	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000536256.1_Nonsense_Mutation_p.S580*|ABCC4_ENST00000431522.1_Nonsense_Mutation_p.S655*|ABCC4_ENST00000412704.1_Nonsense_Mutation_p.S655*	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	655					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CGAAGACTCTGAGAAGGTACG	0.448000													7	125					0	0	0.003080	0	0
NCSTN	23385	broad.mit.edu	37	1	160313217	160313217	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:160313217G>A	ENST00000294785.5	+	1	156	c.31G>A	c.(31-33)Gac>Aac	p.D11N	NCSTN_ENST00000535857.1_Missense_Mutation_p.D11N|NCSTN_ENST00000368063.1_5'UTR	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	11					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTGGGGCTGACCCGGGAAG	0.637000													9	30					0	0	0.008291	0	0
CCDC68	80323	broad.mit.edu	37	18	52586555	52586555	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr18:52586555G>C	ENST00000591504.1	-	9	1010	c.736C>G	c.(736-738)Ctg>Gtg	p.L246V	CCDC68_ENST00000432185.1_Missense_Mutation_p.L246V|CCDC68_ENST00000337363.4_Missense_Mutation_p.L246V	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	246										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		ACAAACTGCAGATGAGAGATC	0.448000													8	122					0	0	0.003080	0	0
ZNF394	84124	broad.mit.edu	37	7	99097648	99097648	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:99097648C>G	ENST00000337673.6	-	1	272	c.69G>C	c.(67-69)gcG>gcC	p.A23A	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_Silent_p.A23A|ZNF789_ENST00000493485.1_Intron|ZNF394_ENST00000394177.3_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	23					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					CCTTGGACCTCGCAGCCATCA	0.632000													8	60					0	0	0.008291	0	0
CYB5RL	606495	broad.mit.edu	37	1	54644997	54644997	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:54644997C>A	ENST00000419823.2	-	6	793	c.569G>T	c.(568-570)gGc>gTc	p.G190V	CYB5RL_ENST00000537208.1_Intron|CYB5RL_ENST00000534324.1_Missense_Mutation_p.G190V|CYB5RL_ENST00000287899.8_Intron|CYB5RL_ENST00000542737.1_Missense_Mutation_p.G190V|CYB5RL_ENST00000401046.3_Missense_Mutation_p.G42V|RP11-446E24.4_ENST00000311841.7_Intron	NM_001031672.2	NP_001026842.2	Q6IPT4	NB5R5_HUMAN	cytochrome b5 reductase-like	190							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						CAGGCCCGTGCCCGCAGCCAG	0.547000													5	14					0.00198382	0.0021505	0.001984	1	0
SMARCA2	6595	broad.mit.edu	37	9	2123791	2123791	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:2123791G>A	ENST00000382203.1	+	27	4044	c.3835G>A	c.(3835-3837)Gag>Aag	p.E1279K	SMARCA2_ENST00000357248.2_Missense_Mutation_p.E1279K|SMARCA2_ENST00000382194.1_Missense_Mutation_p.E1279K|SMARCA2_ENST00000349721.2_Missense_Mutation_p.E1279K			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1279					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGAGGAGGATGAGCTGCCCTC	0.562000													4	34					0	0	0.009096	0	0
PTAFR	5724	broad.mit.edu	37	1	28477108	28477108	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:28477108C>A	ENST00000373857.3	-	2	1059	c.425G>T	c.(424-426)tGg>tTg	p.W142L	PTAFR_ENST00000539896.1_Missense_Mutation_p.W142L|PTAFR_ENST00000305392.3_Missense_Mutation_p.W142L	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	142					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		AATGGCCACCCAGATGACCAA	0.572000													22	51					1.96292e-10	2.34064e-10	0.010504	1	0
EPB41L3	23136	broad.mit.edu	37	18	5398103	5398103	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr18:5398103C>T	ENST00000341928.2	-	17	2729	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	EPB41L3_ENST00000542146.1_Missense_Mutation_p.E102K|EPB41L3_ENST00000342933.3_Missense_Mutation_p.E797K|EPB41L3_ENST00000544123.1_Missense_Mutation_p.E628K|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000427684.2_Missense_Mutation_p.E94K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	797	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGAAGATTTCAGAGCCATCC	0.443000													11	336					0	0	0.002450	0	0
SMU1	55234	broad.mit.edu	37	9	33068842	33068842	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:33068842G>A	ENST00000397149.3	-	4	531	c.481C>T	c.(481-483)Ctc>Ttc	p.L161F	SMU1_ENST00000536631.1_5'UTR	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	161						cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		AATGCCATGAGACGAGATGGA	0.522000													4	62					0	0	0.009096	0	0
UBR4	23352	broad.mit.edu	37	1	19447887	19447887	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:19447887C>T	ENST00000375267.2	-	68	9940	c.9937G>A	c.(9937-9939)Gag>Aag	p.E3313K	UBR4_ENST00000375217.2_Missense_Mutation_p.E3306K|UBR4_ENST00000375254.3_Missense_Mutation_p.E3313K|UBR4_ENST00000375226.2_Missense_Mutation_p.E3289K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3313					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACACGCCCTCATCCACAAGG	0.592000													17	72					0	0	0.004007	0	0
SLITRK1	114798	broad.mit.edu	37	13	84453783	84453783	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:84453783C>A	ENST00000377084.2	-	1	2745	c.1860G>T	c.(1858-1860)ttG>ttT	p.L620F		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	620						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GTCCCGGGACCAACACCGAGA	0.577000													12	27					0.00136819	0.00148725	0.001368	1	0
SLC4A4	8671	broad.mit.edu	37	4	72313445	72313445	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:72313445G>A	ENST00000340595.3	+	6	1112	c.916G>A	c.(916-918)Gat>Aat	p.D306N	SLC4A4_ENST00000425175.1_Missense_Mutation_p.D350N|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000351898.6_Missense_Mutation_p.D350N|SLC4A4_ENST00000512686.1_Missense_Mutation_p.D306N|SLC4A4_ENST00000264485.5_Missense_Mutation_p.D350N	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	350						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCTGATGTCTGATGAGGTAGG	0.413000													3	13					0	0	0.009096	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259802	71259802	+	Silent	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:71259802C>A	ENST00000528743.2	+	1	337	c.99C>A	c.(97-99)ccC>ccA	p.P33P		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	33					epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GCTGTGGCCCCAGCTGCTGTG	0.667000													49	113					2.24722e-20	2.84793e-20	0.003610	1	0
OR4S2	219431	broad.mit.edu	37	11	55418427	55418427	+	Silent	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:55418427T>C	ENST00000312422.2	+	1	48	c.48T>C	c.(46-48)tcT>tcC	p.S16S		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGGGTCTTTCTCAGAGCCCAG	0.358000													25	45					0	0	0.005443	0	0
LRRC25	126364	broad.mit.edu	37	19	18507771	18507771	+	Translation_Start_Site	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:18507771C>G	ENST00000339007.3	-	1	656	c.3G>C	c.(1-3)atG>atC	p.M1I	LRRC25_ENST00000595840.1_Start_Codon_SNP_p.M1I	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	1						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						GGGTGCCCCCCATTCAAGCAA	0.607000													8	13					0	0	0.000978	0	0
MITD1	129531	broad.mit.edu	37	2	99787814	99787814	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:99787814G>C	ENST00000289359.2	-	4	545	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V	MITD1_ENST00000466880.1_5'UTR|MRPL30_ENST00000410042.1_Intron	NM_138798.1	NP_620153.1	Q8WV92	MITD1_HUMAN	MIT, microtubule interacting and transport, domain containing 1	157					protein transport	late endosome membrane				large_intestine(3)|lung(2)|ovary(1)	6						ACTTCATCCAGAGAGGTGAGA	0.358000													7	111					0	0	0.001984	0	0
TMEM174	134288	broad.mit.edu	37	5	72469217	72469217	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:72469217G>C	ENST00000296776.5	+	1	196	c.147G>C	c.(145-147)ctG>ctC	p.L49L	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	49						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TTCTGGGACTGGTGGGGATCA	0.572000													12	130					0	0	0.002450	0	0
OR2A1	346528	broad.mit.edu	37	7	144015529	144015529	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:144015529G>C	ENST00000408951.1	+	1	312	c.312G>C	c.(310-312)ttG>ttC	p.L104F	RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000488041.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000486094.1_RNA|RP4-798C17.6_ENST00000493539.1_RNA|RP4-798C17.6_ENST00000475089.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000467944.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000496968.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA	NM_001005287.1	NP_001005287.1	Q8NGT9	OR2A1_HUMAN	olfactory receptor, family 2, subfamily A, member 1	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					TTCTCTGTTTGAGTTTTGGAC	0.567000													40	216					0	0	0.003610	0	0
THADA	63892	broad.mit.edu	37	2	43459968	43459968	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:43459968C>A	ENST00000405006.4	-	37	5701	c.5350G>T	c.(5350-5352)Gtc>Ttc	p.V1784F	THADA_ENST00000405975.2_Missense_Mutation_p.V1784F|THADA_ENST00000330266.7_Intron|AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000415080.2_Missense_Mutation_p.V1465F	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1784							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCACACAGGACGGCCAGGGCC	0.597000													8	23					2.74318e-10	3.26115e-10	0.006214	1	0
FOXA3	3171	broad.mit.edu	37	19	46376224	46376224	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:46376224G>T	ENST00000302177.2	+	2	1158	c.961G>T	c.(961-963)Gac>Tac	p.D321Y		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	321					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TCCCAAACTGGACGTGGGGTT	0.572000													12	23					7.03913e-09	8.19496e-09	0.001368	1	0
USP53	54532	broad.mit.edu	37	4	120190864	120190864	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:120190864A>T	ENST00000450251.1	+	11	1851	c.1307A>T	c.(1306-1308)gAt>gTt	p.D436V	USP53_ENST00000274030.6_Missense_Mutation_p.D436V			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	436					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGTCACATTGATCAAAGGGAA	0.284000													28	28					0	0	0.003271	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114530	27114530	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:27114530C>T	ENST00000396891.4	-	1	89	c.48G>A	c.(46-48)aaG>aaA	p.K16K	HIST1H2BK_ENST00000356950.1_Silent_p.K16K	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	16					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCACGGCTTTCTTCGAGCCCT	0.587000													12	135					0	0	0.001855	0	0
HNRNPK	3190	broad.mit.edu	37	9	86593195	86593195	+	Splice_Site	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:86593195C>T	ENST00000376263.3	-	3	197		c.e3-1		HNRNPK_ENST00000360384.5_Splice_Site|HNRNPK_ENST00000376281.4_Splice_Site|HNRNPK_ENST00000351839.3_Splice_Site|HNRNPK_ENST00000376264.2_Splice_Site	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K						interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						GCACACCAATCTGTGGAAAAA	0.338000													8	35					0	0	0.003080	0	0
SIRT1	23411	broad.mit.edu	37	10	69672519	69672519	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:69672519C>T	ENST00000212015.6	+	8	1699	c.1646C>T	c.(1645-1647)tCt>tTt	p.S549F	SIRT1_ENST00000406900.1_Missense_Mutation_p.S246F|SIRT1_ENST00000403579.1_Missense_Mutation_p.S246F|SIRT1_ENST00000432464.1_Missense_Mutation_p.S254F	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	549					apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CCACCAGATTCTTCAGTGATT	0.393000													15	44					0	0	0.004007	0	0
PCDHB12	56124	broad.mit.edu	37	5	140590575	140590575	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:140590575C>T	ENST00000239450.2	+	1	2285	c.2096C>T	c.(2095-2097)tCg>tTg	p.S699L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.S362L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		699					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGTGTCGTCGCTCTTCCTC	0.701000													7	159					0	0	0.004482	0	0
CHSY1	22856	broad.mit.edu	37	15	101718087	101718087	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:101718087C>G	ENST00000254190.3	-	3	2390	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	639					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGAAGGAATTCTGTAGTAAAC	0.438000													7	72					0	0	0.001984	0	0
LST3	0	broad.mit.edu	37	12	21207557	21207557	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:21207557G>A	ENST00000381541.3	+	11	1734	c.1669G>A	c.(1669-1671)Gtg>Atg	p.V557M	SLCO1B7_ENST00000554957.1_Missense_Mutation_p.V557M|LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000421593.2_Missense_Mutation_p.V510M|SLCO1B3_ENST00000553473.1_Intron|RP11-125O5.2_ENST00000590779.1_Silent_p.P10P																							CTCATATTCCGTGCTGGTGAT	0.328000													10	34					0	0	0.008291	0	0
LEP	3952	broad.mit.edu	37	7	127894615	127894615	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:127894615G>A	ENST00000308868.4	+	3	354	c.303G>A	c.(301-303)ctG>ctA	p.L101L		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	101					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						CCAACGACCTGGAGAACCTCC	0.562000													41	78					0	0	0.008740	0	0
KLHL38	340359	broad.mit.edu	37	8	124664555	124664555	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:124664555G>C	ENST00000325995.7	-	1	635	c.612C>G	c.(610-612)atC>atG	p.I204M	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	204	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGTCATGCTTGATCCAAACCA	0.547000													22	62					0	0	0.001882	0	0
TTN	7273	broad.mit.edu	37	2	179457184	179457184	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:179457184C>T	ENST00000589042.1	-	301	59772	c.59548G>A	c.(59548-59550)Gaa>Aaa	p.E19850K	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E10910K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18209K|TTN_ENST00000342992.6_Missense_Mutation_p.E17282K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E10785K|TTN_ENST00000342175.6_Missense_Mutation_p.E10977K|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18209	Ig-like 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCATCTTCATGGGCAGCA	0.368000													23	195					0	0	0.001882	0	0
TPI1	7167	broad.mit.edu	37	12	6978532	6978532	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:6978532C>G	ENST00000229270.4	+	4	883	c.546C>G	c.(544-546)ttC>ttG	p.F182L	TPI1_ENST00000396705.5_Missense_Mutation_p.F145L|TPI1_ENST00000488464.2_Missense_Mutation_p.F63L|TPI1_ENST00000535434.1_Missense_Mutation_p.F63L	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	145					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						AGGTTGTTTTCGAGCAGACAA	0.552000											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	80	157					0	0	0.003610	0	0
ATG2A	23130	broad.mit.edu	37	11	64676535	64676535	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:64676535C>G	ENST00000421419.2	-	16	2406	c.2292G>C	c.(2290-2292)gaG>gaC	p.E764D	ATG2A_ENST00000377264.3_Missense_Mutation_p.E764D			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	764							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACAGGGACTCTCCACTGACA	0.622000													12	23					0	0	0.000978	0	0
FABP1	2168	broad.mit.edu	37	2	88424070	88424070	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:88424070C>T	ENST00000393750.3	-	3	307	c.276G>A	c.(274-276)gtG>gtA	p.V92V	FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Silent_p.V92V			P07148	FABPL_HUMAN	fatty acid binding protein 1, liver	92					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						TGAAAGTTGTCACCAGTTTAT	0.507000													26	44					0	0	0.003954	0	0
SGIP1	84251	broad.mit.edu	37	1	67155976	67155976	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:67155976G>T	ENST00000371037.4	+	17	1624	c.1547G>T	c.(1546-1548)aGc>aTc	p.S516I	SGIP1_ENST00000371035.3_Missense_Mutation_p.S306I|SGIP1_ENST00000371036.3_Missense_Mutation_p.S316I|SGIP1_ENST00000371039.1_Missense_Mutation_p.S317I|SGIP1_ENST00000237247.6_Missense_Mutation_p.S547I	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	516					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AATTCCTTGAGCGCAGCCACC	0.468000													45	61					8.20599e-20	1.03828e-19	0.002852	1	0
TRPV5	56302	broad.mit.edu	37	7	142625255	142625255	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:142625255G>T	ENST00000265310.1	-	7	1185	c.837C>A	c.(835-837)gaC>gaA	p.D279E	TRPV5_ENST00000442623.1_Missense_Mutation_p.D279E	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	279					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCTCTGTGAGGTCGTAGAGAA	0.562000													26	52					1.17739e-12	1.43216e-12	0.005443	1	0
TSPAN2	10100	broad.mit.edu	37	1	115596001	115596001	+	Splice_Site	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:115596001G>A	ENST00000369516.2	-	7	630	c.600_splice	c.e7+1	p.T200_splice	TSPAN2_ENST00000369515.2_Splice_Site_p.T175_splice|TSPAN2_ENST00000491992.1_5'UTR|TSPAN2_ENST00000369514.2_Intron	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	200						integral to membrane				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		CTTTCTCACCGTCAGACCTGC	0.363000													4	19					0	0	0.009096	0	0
SMEK2	57223	broad.mit.edu	37	2	55844398	55844398	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:55844398C>T	ENST00000272313.5	-	1	351	c.24G>A	c.(22-24)gtG>gtA	p.V8V	SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000345102.5_Silent_p.V8V|SMEK2_ENST00000407823.3_Silent_p.V8V	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	8	WH1.					microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TATAGACCTTCACTCGCCGCC	0.637000													11	27					0	0	0.008291	0	0
AAED1	195827	broad.mit.edu	37	9	99408273	99408273	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:99408273G>A	ENST00000375234.3	-	5	454	c.455C>T	c.(454-456)tCa>tTa	p.S152L	AAED1_ENST00000464512.1_5'UTR	NM_153698.1	NP_714542.1	Q7RTV5	CI021_HUMAN	AhpC/TSA antioxidant enzyme domain containing 1	152							antioxidant activity|oxidoreductase activity										AAGGCTTCCTGAGAGTAGATT	0.423000													7	86					0	0	0.001984	0	0
ABCC9	10060	broad.mit.edu	37	12	22013934	22013934	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:22013934A>T	ENST00000261200.4	-	19	2394	c.2395T>A	c.(2395-2397)Ttt>Att	p.F799I	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.F799I|ABCC9_ENST00000345162.2_Missense_Mutation_p.F763I	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	799	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGATCTCCAAATGGTAATAAG	0.328000													14	43					0	0	0.003163	0	0
TNFSF18	8995	broad.mit.edu	37	1	173010770	173010770	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:173010770G>A	ENST00000404377.3	-	3	337	c.337C>T	c.(337-339)Cag>Tag	p.Q113*	RP1-15D23.2_ENST00000432694.1_RNA|TNFSF18_ENST00000239468.2_Nonsense_Mutation_p.Q91*	NM_005092.3	NP_005083.2	Q9UNG2	TNF18_HUMAN	tumor necrosis factor (ligand) superfamily, member 18	113					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						AAGCCATTCTGAAGTATCTCC	0.398000													19	143					0	0	0.008871	0	0
PTPRC	5788	broad.mit.edu	37	1	198668726	198668726	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:198668726C>A	ENST00000367376.2	+	5	497	c.326C>A	c.(325-327)aCg>aAg	p.T109K	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.T111K|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000352140.3_Missense_Mutation_p.T109K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	109					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CACCTTCCCACGCACGCAGAC	0.527000											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	94					1.43987e-31	1.86378e-31	0.003610	1	0
SDHA	6389	broad.mit.edu	37	5	236548	236548	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:236548G>C	ENST00000264932.6	+	10	1381	c.1266G>C	c.(1264-1266)ctG>ctC	p.L422L	SDHA_ENST00000504309.1_Silent_p.L422L|SDHA_ENST00000510361.1_Silent_p.L374L	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	422					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CACAGGTCCTGAGGCACGTGA	0.607000									Familial Paragangliomas				16	82					0	0	0.004990	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					3	45					0	0	0.009096	0	0
EMR1	2015	broad.mit.edu	37	19	6921849	6921849	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:6921849T>A	ENST00000312053.4	+	14	1783	c.1746T>A	c.(1744-1746)aaT>aaA	p.N582K	EMR1_ENST00000250572.8_Missense_Mutation_p.N582K|EMR1_ENST00000450315.3_Missense_Mutation_p.N405K|EMR1_ENST00000381404.4_Missense_Mutation_p.N530K|EMR1_ENST00000381407.5_Missense_Mutation_p.N441K	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	582	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					GCAGCTGTAATCAGATGGCAA	0.493000													42	43					0	0	0.002522	0	0
UPF1	5976	broad.mit.edu	37	19	18967079	18967079	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:18967079G>A	ENST00000262803.5	+	13	2066	c.1794G>A	c.(1792-1794)ttG>ttA	p.L598L	UPF1_ENST00000599848.1_Silent_p.L609L	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	609					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						ACCGGGCCTTGAAGCGCACCG	0.612000													18	43					0	0	0.001882	0	0
NSD1	64324	broad.mit.edu	37	5	176637325	176637325	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:176637325C>T	ENST00000439151.2	+	5	1970	c.1925C>T	c.(1924-1926)tCt>tTt	p.S642F	NSD1_ENST00000361032.4_Missense_Mutation_p.S539F|NSD1_ENST00000347982.4_Missense_Mutation_p.S373F|NSD1_ENST00000354179.4_Missense_Mutation_p.S373F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	642					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TGTACCACTTCTGATGATGGA	0.453000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			14	29					0	0	0.002450	0	0
SALL1	6299	broad.mit.edu	37	16	51174945	51174945	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:51174945G>A	ENST00000440970.1	-	2	1328	c.897C>T	c.(895-897)gcC>gcT	p.A299A	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Silent_p.A396A	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	396					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGTTAGCGGAGGCTTGCTGAG	0.502000													28	43					0	0	0.006320	0	0
SLC25A11	8402	broad.mit.edu	37	17	4842372	4842372	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:4842372C>G	ENST00000225665.7	-	2	571	c.231G>C	c.(229-231)ctG>ctC	p.L77L	SLC25A11_ENST00000544061.2_Intron	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	77					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity	p.L77L(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						AAATGCCCCTCAGGCCTTCTG	0.567000													31	27					0	0	0.009535	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34803225	34803225	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:34803225C>G	ENST00000192788.5	+	7	995	c.824C>G	c.(823-825)gCc>gGc	p.A275G	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.A275G	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	275										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAGAGCCTGGCCCCTGAACCT	0.498000													22	21					0	0	0.010504	0	0
TTLL11	158135	broad.mit.edu	37	9	124751414	124751414	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:124751414G>A	ENST00000373776.3	-	4	1786	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L	TTLL11_ENST00000474723.1_Intron|TTLL11_ENST00000321582.5_Intron	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	533	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						CACGAAGCCAGAGAGCCCTCT	0.622000													21	77					0	0	0.002299	0	0
ELAC2	60528	broad.mit.edu	37	17	12901824	12901824	+	Splice_Site	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:12901824C>G	ENST00000338034.4	-	16	1664	c.1423_splice	c.e16-1	p.E475_splice	ELAC2_ENST00000395962.2_Splice_Site_p.E456_splice|ELAC2_ENST00000426905.3_Splice_Site_p.E435_splice	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	475					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GACTTCTTTTCTCTGTGAAAA	0.438000													4	28					0	0	0.009096	0	0
ACTN4	81	broad.mit.edu	37	19	39207792	39207792	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:39207792G>A	ENST00000252699.2	+	10	1055	c.979G>A	c.(979-981)Gag>Aag	p.E327K	ACTN4_ENST00000390009.3_Missense_Mutation_p.E108K|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	327					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACTATCCAGGAGATGCAGCA	0.617000													8	27					0	0	0.004482	0	0
OTUD7B	56957	broad.mit.edu	37	1	149943016	149943016	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:149943016G>C	ENST00000369135.3	-	3	543	c.249C>G	c.(247-249)ctC>ctG	p.L83L	OTUD7B_ENST00000479905.1_5'UTR	NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B	83					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CCTGCCGCTGGAGGATGGGTC	0.527000													42	92					0	0	0.002852	0	0
CASP6	839	broad.mit.edu	37	4	110612133	110612133	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:110612133G>A	ENST00000265164.2	-	6	593	c.516C>T	c.(514-516)gtC>gtT	p.V172V	CASP6_ENST00000352981.3_Silent_p.V83V|CASP6_ENST00000510324.1_5'UTR	NM_001226.3	NP_001217.2	P55212	CASP6_HUMAN	caspase 6, apoptosis-related cysteine peptidase	172					cellular component disassembly involved in apoptosis|induction of apoptosis|proteolysis	cytosol|nucleoplasm	cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000171)		CCAAAGGAATGACTGGCACAT	0.498000													4	33					0	0	0.001168	0	0
PDE3A	5139	broad.mit.edu	37	12	20807022	20807022	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:20807022C>A	ENST00000359062.3	+	15	3107	c.3067C>A	c.(3067-3069)Cct>Act	p.P1023T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	1023	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	AGGACTAATGCCTGGAAAATG	0.502000													15	43					2.23348e-06	2.48973e-06	0.004007	1	0
ZNF550	162972	broad.mit.edu	37	19	58067680	58067680	+	Missense_Mutation	SNP	C	C	T	rs61734156	byFrequency	TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:58067680C>T	ENST00000325134.5	-	2	229	c.73G>A	c.(73-75)Gag>Aag	p.E25K	ZNF550_ENST00000506609.2_Missense_Mutation_p.E16K|ZNF550_ENST00000457177.1_Missense_Mutation_p.E25K|ZNF549_ENST00000602149.1_3'UTR|ZNF550_ENST00000601415.1_Missense_Mutation_p.E25K			Q7Z398	ZN550_HUMAN	zinc finger protein 550	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTCTCCACTCCTCCCGGGTA	0.522000													35	81					0	0	0.004289	0	0
CABP5	56344	broad.mit.edu	37	19	48542550	48542550	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:48542550T>A	ENST00000293255.2	-	4	393	c.263A>T	c.(262-264)gAc>gTc	p.D88V		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	88	EF-hand 2.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		CTCCACAAAGTCATCAAAGTC	0.527000													20	39					0	0	0.002299	0	0
OR2C3	81472	broad.mit.edu	37	1	247695329	247695329	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:247695329G>C	ENST00000366487.3	-	2	846	c.485C>G	c.(484-486)aCg>aGg	p.T162R	GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366491.2_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CATGGTGAGCGTGGAGCCCAC	0.557000													9	35					0	0	0.006214	0	0
IGFL2	147920	broad.mit.edu	37	19	46664041	46664041	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:46664041G>A	ENST00000434646.2	+	4	568	c.277G>A	c.(277-279)Gat>Aat	p.D93N	IGFL2_ENST00000600243.1_3'UTR|AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Missense_Mutation_p.D82N	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	82						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		CTGCTGTCTTGATTCCTTTGG	0.527000													28	283					0	0	0.008361	0	0
ZFPM2	23414	broad.mit.edu	37	8	106814336	106814336	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:106814336C>A	ENST00000407775.2	+	8	2276	c.2026C>A	c.(2026-2028)Ccc>Acc	p.P676T	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.P544T|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P407T|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P544T|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	676					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCCAGTGTCCCCTTAGTGGA	0.423000													11	26					0.00829132	0.00892649	0.008291	1	0
ARPC1B	10095	broad.mit.edu	37	7	98988657	98988657	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:98988657G>C	ENST00000451682.1	+	8	951	c.642G>C	c.(640-642)ggG>ggC	p.G214G	ARPC1B_ENST00000252725.5_Silent_p.G214G			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	214					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGCCAGCGGGAGCCGCGTGG	0.632000													6	28					0	0	0.001984	0	0
TRIM6	117854	broad.mit.edu	37	11	5631423	5631423	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:5631423G>C	ENST00000380097.3	+	6	1148	c.906G>C	c.(904-906)ctG>ctC	p.L302L	TRIM6_ENST00000278302.5_Silent_p.L274L|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.L302L|TRIM6_ENST00000445329.1_Silent_p.L99L|TRIM6_ENST00000506134.1_Silent_p.L99L|TRIM6_ENST00000481603.1_3'UTR|TRIM6_ENST00000380107.1_Silent_p.L248L|TRIM6_ENST00000507320.1_Silent_p.L99L|TRIM6_ENST00000515022.1_Silent_p.L99L	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTACAAAGCTGAGAAGTATGT	0.507000													27	56					0	0	0.009535	0	0
SOX7	83595	broad.mit.edu	37	8	10583643	10583643	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:10583643C>A	ENST00000304501.1	-	2	850	c.772G>T	c.(772-774)Ggc>Tgc	p.G258C	SOX7_ENST00000554914.1_Missense_Mutation_p.G310C|SOX7_ENST00000553390.1_Missense_Mutation_p.G310C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	258					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GCCAGGGAGCCCAGGGGGTGG	0.692000													20	23					8.10497e-08	9.31184e-08	0.010504	1	0
MIR518A2	574491	broad.mit.edu	37	19	54242616	54242616	+	RNA	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:54242616C>A	ENST00000384966.1	+	0	30					NR_030213.1																						AAAGGGAAGCCCTTTCTGTTG	0.433000													48	104					8.00217e-19	1.00602e-18	0.003610	1	0
TMEM39B	55116	broad.mit.edu	37	1	32566178	32566178	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:32566178C>T	ENST00000427288.1	+	9	1386	c.906C>T	c.(904-906)ccC>ccT	p.P302P	TMEM39B_ENST00000487305.1_Intron|TMEM39B_ENST00000336294.5_Intron|TMEM39B_ENST00000373634.4_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	0						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				GTCTCCTCCCCGGGGAAGGAG	0.542000													18	37					0	0	0.002299	0	0
KNTC1	9735	broad.mit.edu	37	12	123070236	123070236	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:123070236C>G	ENST00000333479.7	+	37	3765	c.3588C>G	c.(3586-3588)ttC>ttG	p.F1196L	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1196					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			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)		ACAGTGACTTCTTCAGTGAAG	0.403000													23	57					0	0	0.002299	0	0
GRID1	2894	broad.mit.edu	37	10	87966293	87966293	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:87966293G>C	ENST00000327946.7	-	3	433	c.348C>G	c.(346-348)gtC>gtG	p.V116V		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	116						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GGTTGCGCTGGACAAAGAGGT	0.637000										Multiple Myeloma(13;0.14)			18	38					0	0	0.004990	0	0
ABCC11	85320	broad.mit.edu	37	16	48264391	48264391	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:48264391C>T	ENST00000394747.1	-	2	542	c.193G>A	c.(193-195)Gat>Aat	p.D65N	ABCC11_ENST00000356608.2_Missense_Mutation_p.D65N|ABCC11_ENST00000394748.1_Missense_Mutation_p.D65N|ABCC11_ENST00000537808.1_Missense_Mutation_p.D65N|ABCC11_ENST00000353782.5_Missense_Mutation_p.D65N	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	65						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGGCAGCATCATACTTCCCC	0.567000													19	18					0	0	0.008871	0	0
FAXDC2	10826	broad.mit.edu	37	5	154210376	154210376	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:154210376G>A	ENST00000326080.5	-	5	774	c.351C>T	c.(349-351)gtC>gtT	p.V117V	FAXDC2_ENST00000517938.1_Silent_p.V94V|FAXDC2_ENST00000520968.1_Intron|FAXDC2_ENST00000518651.1_Silent_p.V94V|FAXDC2_ENST00000523997.1_5'UTR	NM_032385.3	NP_115761.2			fatty acid hydroxylase domain containing 2																		CATTCTTGCCGACCTGAATTC	0.478000													21	52					0	0	0.002299	0	0
NR2E3	10002	broad.mit.edu	37	15	72109942	72109942	+	RNA	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:72109942G>A	ENST00000563709.1	+	0	142																											TATCACTGCGGAACGCATCGA	0.488000													26	87					0	0	0.005443	0	0
CSMD1	64478	broad.mit.edu	37	8	3165998	3165998	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:3165998G>T	ENST00000602557.1	-	25	4217	c.3662C>A	c.(3661-3663)cCg>cAg	p.P1221Q	CSMD1_ENST00000542608.1_Missense_Mutation_p.P1220Q|CSMD1_ENST00000537824.1_Missense_Mutation_p.P1220Q|CSMD1_ENST00000539096.1_Missense_Mutation_p.P1220Q|CSMD1_ENST00000520002.1_Missense_Mutation_p.P1221Q|CSMD1_ENST00000602723.1_Missense_Mutation_p.P1221Q|CSMD1_ENST00000400186.3_Missense_Mutation_p.P1221Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1221	Sushi 7.					integral to membrane		p.P949Q(1)|p.P1220Q(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGGGATGCCCGGATCCTCACA	0.483000													10	20					1.76689e-08	2.04492e-08	0.006214	1	0
FAM73A	374986	broad.mit.edu	37	1	78326962	78326962	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:78326962G>C	ENST00000370791.3	+	12	1361	c.1329G>C	c.(1327-1329)caG>caC	p.Q443H	FAM73A_ENST00000443751.2_Missense_Mutation_p.Q405H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	443						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TTTTAGAGCAGACCGATCACT	0.303000													3	33					0	0	0.009096	0	0
MYH15	22989	broad.mit.edu	37	3	108147509	108147509	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:108147509C>G	ENST00000273353.3	-	28	3648	c.3592G>C	c.(3592-3594)Gag>Cag	p.E1198Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1198						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GAAGTTGTCTCAAAGTGCAGA	0.483000													3	85					0	0	0.004672	0	0
TECR	9524	broad.mit.edu	37	19	14674070	14674070	+	Splice_Site	SNP	G	G	C	rs111501133		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:14674070G>C	ENST00000600083.1	+	3	286		c.e3+1		TECR_ENST00000215567.5_Splice_Site|TECR_ENST00000596073.1_Splice_Site|TECR_ENST00000596164.1_Splice_Site|TECR_ENST00000436007.2_Splice_Site			Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase						fatty acid elongation|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	integral to endoplasmic reticulum membrane	trans-2-enoyl-CoA reductase (NADPH) activity|very long-chain-acyl-CoA dehydrogenase activity			endometrium(1)|large_intestine(1)|ovary(1)	3						ACTAAGACCCGTGAGTTCTAG	0.647000													3	26					0	0	0.004672	0	0
STAM	8027	broad.mit.edu	37	10	17750819	17750819	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:17750819G>A	ENST00000377524.3	+	13	1469	c.1254G>A	c.(1252-1254)ggG>ggA	p.G418G	STAM_ENST00000540523.1_Silent_p.G307G	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	418					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGGTTGCAGGGAACGCGCAGA	0.522000													17	86					0	0	0.007413	0	0
GPR98	84059	broad.mit.edu	37	5	89979506	89979506	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:89979506A>T	ENST00000405460.2	+	28	5864	c.5768A>T	c.(5767-5769)gAg>gTg	p.E1923V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1923	Calx-beta 13.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCACATTTGAGATTGGGCAG	0.473000													14	14					0	0	0.007413	0	0
BAGE2	85319	broad.mit.edu	37	21	11038925	11038925	+	RNA	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:11038925G>T	ENST00000470054.1	-	0	1278									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGACACATCTGCCTTGCTTAT	0.433000													31	262					2.4375e-19	3.07422e-19	0.007291	1	0
UQCC1	55245	broad.mit.edu	37	20	33934975	33934975	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:33934975C>T	ENST00000397554.1	-	7	575	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	UQCC_ENST00000374384.2_Missense_Mutation_p.V189I|UQCC_ENST00000359226.2_Intron|UQCC_ENST00000349714.5_Missense_Mutation_p.V162I|UQCC_ENST00000542501.1_Missense_Mutation_p.S145N|UQCC_ENST00000540457.1_Missense_Mutation_p.V34I|UQCC_ENST00000491125.1_5'UTR|UQCC_ENST00000407996.2_Intron|UQCC_ENST00000397556.3_Missense_Mutation_p.V90I|UQCC_ENST00000374385.5_Missense_Mutation_p.V189I|UQCC_ENST00000374377.5_Missense_Mutation_p.V77I|UQCC_ENST00000374380.2_Missense_Mutation_p.V121I			Q9NVA1	UQCC_HUMAN		189						cytoplasmic membrane-bounded vesicle				breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ACCCCCATGACTCTGCCGCGC	0.473000													47	137					0	0	0.003610	0	0
LRP12	29967	broad.mit.edu	37	8	105503566	105503566	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:105503566C>G	ENST00000276654.5	-	7	2023	c.1915G>C	c.(1915-1917)Gag>Cag	p.E639Q	LRP12_ENST00000424843.2_Missense_Mutation_p.E620Q|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	639					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGATTTCTCTCAGGTTCTCTA	0.438000													5	71					0	0	0.000602	0	0
KIF17	57576	broad.mit.edu	37	1	21014176	21014176	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:21014176G>C	ENST00000247986.2	-	8	1953	c.1643C>G	c.(1642-1644)tCt>tGt	p.S548C	KIF17_ENST00000400463.3_Missense_Mutation_p.S548C|KIF17_ENST00000375044.1_Missense_Mutation_p.S448C|KIF17_ENST00000490034.1_Intron			Q9P2E2	KIF17_HUMAN	kinesin family member 17	548					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CTCGGACACAGAGGTTTCTTC	0.577000													13	46					0	0	0.001368	0	0
IQCG	84223	broad.mit.edu	37	3	197640768	197640768	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:197640768A>G	ENST00000265239.6	-	8	1296	c.872T>C	c.(871-873)tTg>tCg	p.L291S	IQCG_ENST00000453254.1_Missense_Mutation_p.L291S|IQCG_ENST00000455191.1_Missense_Mutation_p.L291S	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	291										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		CTCTTCCACCAAGAGTTCCTC	0.478000													38	104					0	0	0.005524	0	0
ASXL3	80816	broad.mit.edu	37	18	31319171	31319171	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr18:31319171G>T	ENST00000269197.5	+	11	1803	c.1803G>T	c.(1801-1803)caG>caT	p.Q601H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CTGAAGAACAGCTTTCAGAAA	0.478000													20	20					8.10497e-08	9.31184e-08	0.010504	1	0
AKAP6	9472	broad.mit.edu	37	14	33293759	33293759	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:33293759C>T	ENST00000280979.4	+	13	6910	c.6740C>T	c.(6739-6741)tCa>tTa	p.S2247L	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2247					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TTTACTCCTTCAAAGCTTGAC	0.443000													5	56					0	0	0.000602	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65726425	65726425	+	RNA	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:65726425G>T	ENST00000532620.1	+	0	1625							Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						GTGCAGGCCCGGCCCTTCCTG	0.642000													11	27					6.40141e-05	7.02637e-05	0.000978	1	0
EPHA8	2046	broad.mit.edu	37	1	22913128	22913128	+	Splice_Site	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:22913128C>T	ENST00000166244.3	+	4	1051	c.979_splice	c.e4+1	p.R327_splice	EPHA8_ENST00000538803.1_Splice_Site_p.R327_splice|EPHA8_ENST00000374644.4_Splice_Site_p.R327_splice	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	327						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCCTGCACCCGTGAGTACCA	0.662000													16	30					0	0	0.007413	0	0
PAPSS2	9060	broad.mit.edu	37	10	89504826	89504826	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:89504826C>T	ENST00000361175.4	+	11	1913	c.1544C>T	c.(1543-1545)gCa>gTa	p.A515V	PAPSS2_ENST00000456849.1_Missense_Mutation_p.A520V|PAPSS2_ENST00000427144.2_Missense_Mutation_p.A519V	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	515					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		AGGGACCCTGCAGGAATGCCC	0.537000													8	76					0	0	0.006214	0	0
ZNF578	147660	broad.mit.edu	37	19	53007912	53007912	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:53007912G>T	ENST00000421239.2	+	5	312	c.68G>T	c.(67-69)cGc>cTc	p.R23L		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R23L(1)							GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TTTTAGGGACGCTTGACTTTC	0.403000													43	135					3.54909e-21	4.51233e-21	0.002852	1	0
ITGBL1	9358	broad.mit.edu	37	13	102220091	102220091	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:102220091G>A	ENST00000376180.3	+	3	577	c.358G>A	c.(358-360)Gga>Aga	p.G120R	ITGBL1_ENST00000376162.3_Missense_Mutation_p.G27R|ITGBL1_ENST00000545560.2_5'UTR	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	120	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGTGACCAGGGATGGTATGG	0.433000													28	114					0	0	0.005443	0	0
AFAP1L1	134265	broad.mit.edu	37	5	148712357	148712357	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:148712357C>T	ENST00000296721.4	+	17	2173	c.2075C>T	c.(2074-2076)gCt>gTt	p.A692V	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.A692V	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	692							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCTGGTGGCTGTGAAGGAG	0.627000													6	28					0	0	0.003080	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918695	154918695	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:154918695C>T	ENST00000368463.3	-	10	1526	c.1455G>A	c.(1453-1455)cgG>cgA	p.R485R	PBXIP1_ENST00000368465.1_Silent_p.R456R|PBXIP1_ENST00000539880.1_Silent_p.R312R|PBXIP1_ENST00000542459.1_Silent_p.R330R	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	485					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCTCAGCCTTCCGGTCTCTCT	0.552000													24	333					0	0	0.002780	0	0
ALS2	57679	broad.mit.edu	37	2	202625644	202625644	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:202625644C>G	ENST00000264276.6	-	4	1445	c.1073G>C	c.(1072-1074)aGa>aCa	p.R358T	ALS2_ENST00000467448.1_Missense_Mutation_p.R358T	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	358					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGAGTCCTCTCTTACTGAATG	0.418000													8	75					0	0	0.004482	0	0
OR51G1	79324	broad.mit.edu	37	11	4945335	4945335	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:4945335T>A	ENST00000321961.2	-	1	302	c.235A>T	c.(235-237)Aca>Tca	p.T79S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGGGCAGTGTGGAAAGGCAA	0.488000													9	27					0	0	0.004482	0	0
RFX5	5993	broad.mit.edu	37	1	151314825	151314825	+	Missense_Mutation	SNP	G	G	A	rs150072792	byFrequency	TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:151314825G>A	ENST00000290524.4	-	11	1866	c.1688C>T	c.(1687-1689)tCa>tTa	p.S563L	RFX5_ENST00000452671.2_Missense_Mutation_p.S563L|RFX5_ENST00000368870.2_Missense_Mutation_p.S563L|RFX5_ENST00000452513.2_Missense_Mutation_p.S523L	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	563						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTCACTTTTGAGGGGACCAA	0.502000													54	124					0	0	0.003610	0	0
HNRNPF	3185	broad.mit.edu	37	10	43883317	43883317	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:43883317C>G	ENST00000443950.2	-	3	502	c.16G>C	c.(16-18)Gag>Cag	p.E6Q	HNRNPF_ENST00000498176.1_5'UTR|HNRNPF_ENST00000544000.1_Missense_Mutation_p.E6Q|HNRNPF_ENST00000337970.3_Missense_Mutation_p.E6Q|HNRNPF_ENST00000356053.3_Missense_Mutation_p.E6Q|HNRNPF_ENST00000357065.4_Missense_Mutation_p.E6Q	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	6					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						TCACCTCCCTCAGGGCCCAGC	0.498000													3	65					0	0	0.000602	0	0
KBTBD8	84541	broad.mit.edu	37	3	67054667	67054667	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:67054667G>C	ENST00000295568.4	+	3	1329	c.1198G>C	c.(1198-1200)Gcg>Ccg	p.A400P	KBTBD8_ENST00000417314.2_Missense_Mutation_p.A426P|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	426										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACTGTTTGCGCGATGCCAGT	0.418000													34	53					0	0	0.003271	0	0
ASPM	259266	broad.mit.edu	37	1	197070086	197070086	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:197070086C>A	ENST00000367409.4	-	18	8551	c.8295G>T	c.(8293-8295)aaG>aaT	p.K2765N	ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2765	IQ 31.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGGCTGCCATCTTTTCCTCTG	0.358000													44	59					2.40228e-13	2.95405e-13	0.003214	1	0
ZDBF2	57683	broad.mit.edu	37	2	207170219	207170219	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:207170219G>A	ENST00000374423.3	+	5	1353	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	323							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAATCTTTGAAGATACTAT	0.368000													10	46					0	0	0.000978	0	0
EXT1	2131	broad.mit.edu	37	8	119122705	119122705	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:119122705T>C	ENST00000378204.2	-	1	1387	c.581A>G	c.(580-582)aAt>aGt	p.N194S		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	194					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGaatataaattaaaaattaa	0.463000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses				39	106					0	0	0.006230	0	0
COL11A1	1301	broad.mit.edu	37	1	103444947	103444947	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:103444947T>A	ENST00000358392.2	-	32	2954	c.2637A>T	c.(2635-2637)aaA>aaT	p.K879N	COL11A1_ENST00000353414.4_Missense_Mutation_p.K828N|COL11A1_ENST00000512756.1_Missense_Mutation_p.K751N|COL11A1_ENST00000370096.3_Missense_Mutation_p.K867N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	867	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCGTGCACCTTTCTCTCCAT	0.373000													17	13					0	0	0.010504	0	0
AKAP10	11216	broad.mit.edu	37	17	19845206	19845206	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:19845206C>G	ENST00000225737.6	-	6	1151	c.994G>C	c.(994-996)Gat>Cat	p.D332H	AKAP10_ENST00000395536.3_Missense_Mutation_p.D332H	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	332	RGS 1.				blood coagulation|protein localization	cytosol|mitochondrion|plasma membrane	signal transducer activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					ACCTGTCCATCTTCTCCACAA	0.373000													4	18					0	0	0.009096	0	0
LRIG3	121227	broad.mit.edu	37	12	59270273	59270273	+	Silent	SNP	G	G	A	rs149467071	byFrequency	TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:59270273G>A	ENST00000320743.3	-	16	2935	c.2649C>T	c.(2647-2649)gtC>gtT	p.V883V	LRIG3_ENST00000379141.4_Silent_p.V823V	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	883						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGAAGATGTGACAAACTGGT	0.428000			T	ROS1	NSCLC								6	22					0	0	0.001168	0	0
CSMD2	114784	broad.mit.edu	37	1	34052734	34052734	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:34052734G>A	ENST00000373381.4	-	45	7067	c.6891C>T	c.(6889-6891)atC>atT	p.I2297I		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2299	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGTTGGGGAGGATGGTGGGAG	0.498000													7	9					0	0	0.003080	0	0
URB2	9816	broad.mit.edu	37	1	229772013	229772013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:229772013C>G	ENST00000258243.2	+	4	1789	c.1653C>G	c.(1651-1653)ttC>ttG	p.F551L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	551						nucleolus				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						GCATCATGTTCAACATGAGGA	0.547000													24	113					0	0	0.002780	0	0
OR2T33	391195	broad.mit.edu	37	1	248436956	248436956	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:248436956T>A	ENST00000318021.2	-	1	182	c.161A>T	c.(160-162)cAc>cTc	p.H54L		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGGGCGTGTGGAGCCGGTG	0.527000													87	66					0	0	0.003610	0	0
SCMH1	22955	broad.mit.edu	37	1	41617292	41617292	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:41617292G>C	ENST00000402904.2	-	5	509	c.141C>G	c.(139-141)ttC>ttG	p.F47L	SCMH1_ENST00000372596.1_5'UTR|SCMH1_ENST00000372595.1_5'UTR|SCMH1_ENST00000397174.2_Missense_Mutation_p.F27L|SCMH1_ENST00000337495.5_Missense_Mutation_p.F57L|SCMH1_ENST00000397171.2_5'UTR|SCMH1_ENST00000326197.7_Missense_Mutation_p.F47L|SCMH1_ENST00000361191.5_Intron|SCMH1_ENST00000361705.3_Intron|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372597.1_Intron	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	47					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TTACCTGCTTGAAGCAATGGA	0.378000													4	146					0	0	0.001984	0	0
ITGB4	3691	broad.mit.edu	37	17	73753064	73753064	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:73753064G>C	ENST00000200181.3	+	38	5281	c.5094G>C	c.(5092-5094)gaG>gaC	p.E1698D	ITGB4_ENST00000579662.1_Missense_Mutation_p.E1628D|ITGB4_ENST00000450894.3_Missense_Mutation_p.E1628D|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.E1681D|ITGB4_ENST00000449880.2_Missense_Mutation_p.E1681D	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1698	Fibronectin type-III 4.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ACAGCCCCGAGAGCCGGCTGA	0.672000													3	39					0	0	0.004672	0	0
EML4	27436	broad.mit.edu	37	2	42530454	42530454	+	Splice_Site	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:42530454G>T	ENST00000318522.5	+	16	2029		c.e16-1		EML4_ENST00000453191.2_Splice_Site|EML4_ENST00000402711.2_Splice_Site|EML4_ENST00000401738.3_Splice_Site	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4						microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTCATTTTCAGGGTCATACAG	0.403000			T	ALK	NSCLC								5	110					3.59834e-05	3.96069e-05	0.001168	1	0
C8orf34	116328	broad.mit.edu	37	8	69434188	69434188	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:69434188G>T	ENST00000337103.4	+	5	2179	c.587G>T	c.(586-588)gGc>gTc	p.G196V	C8orf34_ENST00000348340.2_Missense_Mutation_p.G221V|C8orf34_ENST00000539993.1_Missense_Mutation_p.G221V|C8orf34_ENST00000518698.1_Missense_Mutation_p.G307V			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	221					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GAAGATAGTGGCTCTAGTCCT	0.403000													12	39					2.23348e-06	2.48973e-06	0.004007	1	0
ZFYVE20	64145	broad.mit.edu	37	3	15126289	15126289	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:15126289G>C	ENST00000253699.3	-	8	1164	c.551C>G	c.(550-552)tCt>tGt	p.S184C	ZFYVE20_ENST00000435849.3_Missense_Mutation_p.S184C|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.S184C|ZFYVE20_ENST00000449964.2_5'UTR	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	184	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GCACATAATAGACCCGCAGAG	0.567000													9	69					0	0	0.006214	0	0
TLN1	7094	broad.mit.edu	37	9	35720892	35720892	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:35720892C>G	ENST00000314888.9	-	11	1476	c.1123G>C	c.(1123-1125)Gat>Cat	p.D375H	TLN1_ENST00000540444.1_Missense_Mutation_p.D375H	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	375	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TAATAGCCATCTTGGTAATCT	0.507000													16	36					0	0	0.004007	0	0
SNHG14	104472715	broad.mit.edu	37	15	25230255	25230255	+	RNA	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:25230255G>A	ENST00000551631.2	+	0	887				SNORD64_ENST00000386683.1_RNA|SNHG14_ENST00000551361.1_RNA	NR_001293.1																						CTGGATTTGTGATGAGCTGTG	0.393000													25	26					0	0	0.006320	0	0
FAM50B	26240	broad.mit.edu	37	6	3850892	3850892	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:3850892G>C	ENST00000380274.1	+	1	1273	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	FAM50B_ENST00000380272.3_Missense_Mutation_p.E283Q			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	283						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CGCCACCATGGAGAAGGACGA	0.637000													10	40					0	0	0.006214	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819771	74819771	+	Missense_Mutation	SNP	G	G	A	rs149716436		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:74819771G>A	ENST00000370895.1	+	13	1473	c.1438G>A	c.(1438-1440)Gaa>Aaa	p.E480K	TNNI3K_ENST00000326637.3_Missense_Mutation_p.E379K|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.E480K|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.E480K|TNNI3K_ENST00000370891.2_Missense_Mutation_p.E480K|RP11-439H8.4_ENST00000415549.2_RNA			Q59H18	TNI3K_HUMAN		379	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										GTCTAGTGGTGAAAAAGATGA	0.408000													22	73					0	0	0.001882	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816737	43816737	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:43816737C>A	ENST00000377564.3	+	6	1236	c.843C>A	c.(841-843)gaC>gaA	p.D281E	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.D281E	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	281	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						AGCTCCTCGACACGCAGGTCA	0.483000													10	60					2.32078e-09	2.72199e-09	0.003163	1	0
UGT2B4	7363	broad.mit.edu	37	4	70351105	70351105	+	Silent	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:70351105G>T	ENST00000305107.6	-	5	1177	c.1131C>A	c.(1129-1131)gcC>gcA	p.A377A	UGT2B4_ENST00000381096.3_Silent_p.A241A|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000512583.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	377					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGATGCCATTGGCTCCACCAT	0.413000													6	132					5.9392e-07	6.71573e-07	0.001168	1	0
LILRB2	10288	broad.mit.edu	37	19	54783421	54783421	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:54783421G>T	ENST00000391748.1	-	5	564	c.437C>A	c.(436-438)tCa>tAa	p.S146*	LILRB2_ENST00000434421.1_Nonsense_Mutation_p.S30*|LILRB2_ENST00000391746.1_Nonsense_Mutation_p.S146*|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.S146*|LILRB2_ENST00000391749.4_Nonsense_Mutation_p.S146*	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	146	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGCCACCTGTGACTCACACTG	0.607000													34	79					2.68265e-12	3.25308e-12	0.002836	1	0
AGAP2	116986	broad.mit.edu	37	12	58126703	58126703	+	Missense_Mutation	SNP	C	C	T	rs141167177		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:58126703C>T	ENST00000257897.3	-	6	686	c.601G>A	c.(601-603)Gcg>Acg	p.A201T	AGAP2_ENST00000547588.1_Missense_Mutation_p.A537T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	537	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TTCATGTCCGCGCACAGAGCT	0.567000													14	293					0	0	0.002450	0	0
MUC4	4585	broad.mit.edu	37	3	195474200	195474200	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:195474200C>T	ENST00000463781.3	-	25	16545	c.16086G>A	c.(16084-16086)ctG>ctA	p.L5362L	MUC4_ENST00000346145.4_Silent_p.L1126L|MUC4_ENST00000349607.4_Silent_p.L1075L|MUC4_ENST00000475231.1_Silent_p.L5310L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2119					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTTCATGCTCAGGTGCTCAC	0.627000													6	49					0	0	0.001984	0	0
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T						ankyrin repeat domain 36C									p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338000													3	69					0	0	0.009096	0	0
DYNAP	284254	broad.mit.edu	37	18	52265100	52265100	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr18:52265100C>G	ENST00000321600.1	+	3	403	c.357C>G	c.(355-357)ctC>ctG	p.L119L	DYNAP_ENST00000585973.1_Silent_p.L67L	NM_173629.1	NP_775900.1			dynactin associated protein																		TGGCTTGTCTCTTAGCCTGTG	0.373000													39	39					0	0	0.003214	0	0
EVL	51466	broad.mit.edu	37	14	100563832	100563832	+	Silent	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:100563832T>C	ENST00000544450.2	+	3	490	c.207T>C	c.(205-207)taT>taC	p.Y69Y	EVL_ENST00000555048.1_3'UTR|EVL_ENST00000402714.2_Silent_p.Y63Y|EVL_ENST00000392920.3_Silent_p.Y65Y			Q9UI08	EVL_HUMAN	Enah/Vasp-like	63	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				TGATCAATTATTCAATCGTGA	0.463000													22	27					0	0	0.001882	0	0
PLCL1	5334	broad.mit.edu	37	2	198950310	198950310	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:198950310G>C	ENST00000428675.1	+	2	2467	c.2069G>C	c.(2068-2070)gGa>gCa	p.G690A	PLCL1_ENST00000437704.2_Missense_Mutation_p.G592A	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	690	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAAACGGGGGATGTGGTTAT	0.463000													8	128					0	0	0.004482	0	0
INSRR	3645	broad.mit.edu	37	1	156823985	156823985	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:156823985C>T	ENST00000368195.3	-	2	592	c.196G>A	c.(196-198)Gag>Aag	p.E66K	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	66					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGAAGTCCTCCCCGGTGGCT	0.632000													12	28					0	0	0.000978	0	0
SRRM2	23524	broad.mit.edu	37	16	2813700	2813700	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:2813700G>C	ENST00000301740.8	+	11	3720	c.3171G>C	c.(3169-3171)ctG>ctC	p.L1057L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1057	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CTCTGCAACTGAAAGGACAAT	0.463000													38	88					0	0	0.004878	0	0
CPZ	8532	broad.mit.edu	37	4	8608532	8608532	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:8608532C>T	ENST00000382480.2	+	6	1364	c.564C>T	c.(562-564)ttC>ttT	p.F188F	CPZ_ENST00000315782.6_Silent_p.F314F|CPZ_ENST00000360986.4_Silent_p.F325F|CPZ_ENST00000429646.2_5'UTR	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	325					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCGAAATTTCCCGGACCTGA	0.647000													24	18					0	0	0.002780	0	0
DSPP	1834	broad.mit.edu	37	4	88535003	88535003	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:88535003G>T	ENST00000399271.1	+	5	1309	c.1189G>T	c.(1189-1191)Gaa>Taa	p.E397*	DSPP_ENST00000282478.7_Nonsense_Mutation_p.E397*|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	397					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAAGGCAACGAAGGTAAAGA	0.428000													17	27					1.02788e-11	1.24071e-11	0.004990	1	0
ANK3	288	broad.mit.edu	37	10	61844362	61844362	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:61844362C>T	ENST00000280772.1	-	32	4263	c.4072G>A	c.(4072-4074)Gag>Aag	p.E1358K	ANK3_ENST00000373827.2_Missense_Mutation_p.E1352K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1359K|ANK3_ENST00000355288.2_Missense_Mutation_p.E492K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	1358					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAAGGTACCTCAATATCTTTG	0.363000													23	60					0	0	0.002299	0	0
CRIM1	51232	broad.mit.edu	37	2	36739428	36739428	+	Silent	SNP	C	C	T	rs138805655		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:36739428C>T	ENST00000280527.2	+	10	2038	c.1671C>T	c.(1669-1671)caC>caT	p.H557H		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	557	Antistasin-like 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGAATAAGCACGGCTGTGACA	0.453000													7	106					0	0	0.001984	0	0
DOK5	55816	broad.mit.edu	37	20	53266966	53266966	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:53266966C>T	ENST00000262593.5	+	8	1219	c.869C>T	c.(868-870)cCt>cTt	p.P290L	DOK5_ENST00000395939.1_Missense_Mutation_p.P182L	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5	290							insulin receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			GTTTCCAGCCCTCTGAAGCTT	0.393000													12	24					0	0	0.001368	0	0
BTN1A1	696	broad.mit.edu	37	6	26505419	26505419	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:26505419G>C	ENST00000244513.6	+	3	760	c.694G>C	c.(694-696)Gaa>Caa	p.E232Q		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	232	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GAAGAAAGTAGAAATATCCAT	0.483000													3	69					0	0	0.004672	0	0
PITPNM3	83394	broad.mit.edu	37	17	6441325	6441325	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:6441325C>T	ENST00000262483.8	-	2	187	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	ACKR6_ENST00000421306.3_Missense_Mutation_p.E34K	NM_031220.3	NP_112497.2																					TCAAAGAATTCATCATCTGAG	0.547000													14	2					0	0	0.003163	0	0
PCDHGA7	56108	broad.mit.edu	37	5	140764296	140764296	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:140764296G>T	ENST00000518325.1	+	1	1830	c.1830G>T	c.(1828-1830)aaG>aaT	p.K610N	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGCTTAAGGCCAGCGAGC	0.652000													34	41					9.04072e-19	1.13478e-18	0.003271	1	0
USH2A	7399	broad.mit.edu	37	1	215990372	215990372	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:215990372G>C	ENST00000366943.2	-	48	9923	c.9537C>G	c.(9535-9537)atC>atG	p.I3179M	USH2A_ENST00000307340.3_Missense_Mutation_p.I3179M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3179	Fibronectin type-III 18.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGTGTCCACAGATAGATTCAG	0.388000										HNSCC(13;0.011)			24	77					0	0	0.003330	0	0
HLA-E	3133	broad.mit.edu	37	6	30460210	30460210	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:30460210G>C	ENST00000376630.4	+	6	1098	c.1033G>C	c.(1033-1035)Gag>Cag	p.E345Q		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	345					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CTCTAAGGCTGAGTGTAAGTG	0.562000													8	68					0	0	0.004482	0	0
FBN1	2200	broad.mit.edu	37	15	48738907	48738907	+	Silent	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:48738907A>G	ENST00000316623.5	-	47	6239	c.5784T>C	c.(5782-5784)tgT>tgC	p.C1928C		NM_000138.4	NP_000129.3	P35555	FBN1_HUMAN	fibrillin 1	1928	EGF-like 32; calcium-binding.		C -> G (in MFS).|C -> R (in MFS).|C -> Y (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACGCACCTATACAGTCATTGT	0.413000													40	17					0	0	0.009718	0	0
PELI3	246330	broad.mit.edu	37	11	66235688	66235688	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:66235688C>G	ENST00000349459.6	+	2	373	c.89C>G	c.(88-90)tCt>tGt	p.S30C	PELI3_ENST00000320740.7_Missense_Mutation_p.S30C|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000524466.1_Missense_Mutation_p.S30C	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	30						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GTTCTCTCCTCTCCCGGTGAA	0.607000													17	76					0	0	0.007413	0	0
PSTPIP1	9051	broad.mit.edu	37	15	77317631	77317631	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:77317631G>A	ENST00000558012.1	+	4	708	c.219G>A	c.(217-219)ctG>ctA	p.L73L	PSTPIP1_ENST00000267939.5_Silent_p.L72L|PSTPIP1_ENST00000379595.3_Silent_p.L73L|PSTPIP1_ENST00000559295.1_Silent_p.L73L	NM_003978.3	NP_003969.2	O43586	PPIP1_HUMAN	proline-serine-threonine phosphatase interacting protein 1	73	FCH.				cell adhesion|signal transduction	cleavage furrow|lamellipodium|perinuclear region of cytoplasm	catalytic activity			breast(1)|endometrium(3)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GCAGCTCCCTGAGGGCCTCCT	0.627000													27	57					0	0	0.002096	0	0
CTNNA2	1496	broad.mit.edu	37	2	80874709	80874709	+	Splice_Site	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:80874709G>T	ENST00000466387.1	+	22	3154		c.e22-1		CTNNA2_ENST00000541047.1_Splice_Site|CTNNA2_ENST00000540488.1_Splice_Site|CTNNA2_ENST00000361291.4_Splice_Site|CTNNA2_ENST00000343114.3_Splice_Site|CTNNA2_ENST00000496558.1_Splice_Site|CTNNA2_ENST00000402739.4_Splice_Site			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2						axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TCCTACTCTAGCTGGACAGTG	0.433000													31	63					9.78306e-22	1.24584e-21	0.009535	1	0
ZNF213	7760	broad.mit.edu	37	16	3190700	3190700	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:3190700C>G	ENST00000396878.3	+	6	1207	c.732C>G	c.(730-732)ctC>ctG	p.L244L	ZNF213_ENST00000576416.1_Silent_p.L244L|ZNF213_ENST00000574902.1_Silent_p.L244L|ZNF213_ENST00000416391.2_Silent_p.L86L	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	244	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GTTTTGGGCTCAAAGGCCAAA	0.627000													3	71					0	0	0.004672	0	0
UPF1	5976	broad.mit.edu	37	19	18967010	18967010	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:18967010G>A	ENST00000262803.5	+	13	1997	c.1725G>A	c.(1723-1725)caG>caA	p.Q575Q	UPF1_ENST00000599848.1_Silent_p.Q586Q	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	586					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTGAGCTGCAGAAGCTGCAGC	0.607000													18	41					0	0	0.010504	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861049	34861049	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:34861049C>G	ENST00000314399.3	-	2	1090	c.652G>C	c.(652-654)Gac>Cac	p.D218H	DNAJC28_ENST00000402202.1_Missense_Mutation_p.D218H|DNAJC28_ENST00000381947.3_Missense_Mutation_p.D218H	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	218							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTGAGATTGTCAAAGTCTCCT	0.388000													11	118					0	0	0.000978	0	0
FAM115A	9747	broad.mit.edu	37	7	143573180	143573180	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:143573180G>A	ENST00000479870.1	-	2	730	c.522C>T	c.(520-522)ctC>ctT	p.L174L	FAM115A_ENST00000392900.3_Intron|FAM115A_ENST00000355951.2_Silent_p.L174L	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534.1	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	174										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					CACTGGTCACGAGGTTCCCAG	0.512000													23	38					0	0	0.002780	0	0
LRIG2	9860	broad.mit.edu	37	1	113652872	113652872	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:113652872C>T	ENST00000361127.4	+	13	1684	c.1486C>T	c.(1486-1488)Ctc>Ttc	p.L496F	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	496						cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGATGATTTTCTCAAGCCACA	0.373000													11	45					0	0	0.001368	0	0
CLMN	79789	broad.mit.edu	37	14	95670730	95670730	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:95670730G>A	ENST00000298912.4	-	9	1069	c.956C>T	c.(955-957)tCt>tTt	p.S319F		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	319						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTCCTGTTCAGAAGGAGTTTC	0.403000													6	102					0	0	0.001984	0	0
RIMBP2	23504	broad.mit.edu	37	12	130898825	130898825	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:130898825G>A	ENST00000261655.4	-	14	2660	c.2497C>T	c.(2497-2499)Cca>Tca	p.P833S		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	833						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TAGAAGTCTGGAGAAAGGCGG	0.577000													6	108					0	0	0.001984	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18123413	18123413	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:18123413C>T	ENST00000278816.2	+	2	759	c.109C>T	c.(109-111)Ctc>Ttc	p.L37F	CSRP2BP_ENST00000377681.2_Missense_Mutation_p.L37F|CSRP2BP_ENST00000435364.2_Missense_Mutation_p.L37F|PET117_ENST00000432901.2_3'UTR|CSRP2BP_ENST00000604915.1_Missense_Mutation_p.L37F			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	37					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGGAGAGACGCTCCTGATCGT	0.537000													15	35					0	0	0.004990	0	0
SLC23A3	151295	broad.mit.edu	37	2	220034069	220034069	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:220034069C>A	ENST00000455516.2	-	3	427	c.380G>T	c.(379-381)aGc>aTc	p.S127I	SLC23A3_ENST00000409878.3_Missense_Mutation_p.S127I|SLC23A3_ENST00000396775.3_Missense_Mutation_p.S69I|SLC23A3_ENST00000295738.7_Missense_Mutation_p.S127I	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	127					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGCTTCTGGCTGGTCAGCAC	0.592000													36	81					1.03484e-13	1.27452e-13	0.005524	1	0
GEMIN7	79760	broad.mit.edu	37	19	45593461	45593461	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:45593461G>T	ENST00000270257.4	+	3	336	c.89G>T	c.(88-90)cGc>cTc	p.R30L	GEMIN7_ENST00000391951.2_Missense_Mutation_p.R30L|CTB-179K24.4_ENST00000586744.1_RNA|CTB-179K24.3_ENST00000586556.1_RNA|GEMIN7_ENST00000591747.1_Missense_Mutation_p.R30L|GEMIN7_ENST00000591607.1_Missense_Mutation_p.R30L	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	30					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		CCTGATGGACGCAGAGCCCCC	0.622000													41	84					6.19805e-25	7.94441e-25	0.005524	1	0
NPIPB5	100132247	broad.mit.edu	37	16	22545845	22545845	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:22545845C>T	ENST00000424340.1	+	7	1820	c.1541C>T	c.(1540-1542)cCt>cTt	p.P514L	NPIPB5_ENST00000517539.1_Missense_Mutation_p.P514L|NPIPB5_ENST00000415654.1_3'UTR	NM_001135865.1	NP_001129337.1			nuclear pore complex interacting protein family, member B5																		CTCAAGACACCTTCCGAGCGT	0.592000													21	437					0	0	0.002780	0	0
GTF3C1	2975	broad.mit.edu	37	16	27475738	27475738	+	Silent	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:27475738T>C	ENST00000356183.4	-	34	5790	c.5775A>G	c.(5773-5775)gcA>gcG	p.A1925A	GTF3C1_ENST00000561623.1_Silent_p.A1925A	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1925						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCTTCCTGTGCTGCTCCCG	0.647000													52	97					0	0	0.003610	0	0
FAM155A	728215	broad.mit.edu	37	13	108518712	108518712	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:108518712T>C	ENST00000375915.2	-	1	371	c.233A>G	c.(232-234)cAg>cGg	p.Q78R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	78	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgccgctgctg	0.677000													4	87					0	0	0.009096	0	0
GAS2L3	283431	broad.mit.edu	37	12	101017743	101017743	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:101017743C>G	ENST00000537247.1	+	10	1802	c.848C>G	c.(847-849)tCt>tGt	p.S283C	GAS2L3_ENST00000539410.1_Missense_Mutation_p.S387C|GAS2L3_ENST00000266754.5_Missense_Mutation_p.S387C|GAS2L3_ENST00000547754.1_Missense_Mutation_p.S387C			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	387					cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						AAGCTCAAGTCTTCAAAAGGC	0.438000													34	88					0	0	0.004289	0	0
KANSL1	284058	broad.mit.edu	37	17	44249407	44249407	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:44249407C>T	ENST00000262419.6	-	2	573	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	KANSL1_ENST00000574590.1_Missense_Mutation_p.E35K|KANSL1_ENST00000572904.1_Missense_Mutation_p.E35K|KANSL1_ENST00000575318.1_Missense_Mutation_p.E35K|KANSL1_ENST00000432791.1_Missense_Mutation_p.E35K|KANSL1_ENST00000393476.3_5'UTR	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	35						MLL1 complex	protein binding										CCGTTATTTTCGGCACTGCCA	0.542000													33	106					0	0	0.009535	0	0
DSE	29940	broad.mit.edu	37	6	116758475	116758475	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:116758475G>C	ENST00000331677.3	+	7	3288	c.2844G>C	c.(2842-2844)tgG>tgC	p.W948C	DSE_ENST00000359564.2_Missense_Mutation_p.W948C|DSE_ENST00000537543.1_Missense_Mutation_p.W967C|DSE_ENST00000452085.3_Missense_Mutation_p.W948C			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	948					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTTATTATGGTTGTACTCTT	0.373000													5	42					0	0	0.000602	0	0
MCCC1	56922	broad.mit.edu	37	3	182738013	182738013	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:182738013C>G	ENST00000492597.1	-	16	2257	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	MCCC1_ENST00000539926.1_3'UTR|MCCC1_ENST00000265594.4_Missense_Mutation_p.E628Q			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	628					biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	ATGTCAATCTCAATACTTCCT	0.388000													14	54					0	0	0.002450	0	0
KCND3	3752	broad.mit.edu	37	1	112524584	112524584	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:112524584G>A	ENST00000369697.1	-	1	834	c.765C>T	c.(763-765)atC>atT	p.I255I	KCND3_ENST00000315987.2_Silent_p.I255I|KCND3_ENST00000302127.4_Silent_p.I255I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	255						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGACGCTGCGGATGAAGCGGT	0.617000													5	69					0	0	0.003080	0	0
FERMT3	83706	broad.mit.edu	37	11	63987460	63987460	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:63987460G>A	ENST00000279227.5	+	10	1284	c.1189G>A	c.(1189-1191)Gac>Aac	p.D397N	FERMT3_ENST00000345728.5_Missense_Mutation_p.D393N	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	397	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGCCCCTGGGGACCCCATTCA	0.627000													17	48					0	0	0.004990	0	0
LGALS9	3965	broad.mit.edu	37	17	25974359	25974359	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:25974359G>A	ENST00000395473.2	+	10	2290	c.822G>A	c.(820-822)gaG>gaA	p.E274E	LGALS9_ENST00000302228.5_Silent_p.E242E|LGALS9_ENST00000310394.5_Silent_p.E230E|LGALS9_ENST00000413914.2_Intron|LGALS9_ENST00000313648.6_Intron	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9	274	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GTTTTGATGAGAATGCTGTGG	0.582000													5	62					0	0	0.000602	0	0
EPB41L5	57669	broad.mit.edu	37	2	120885288	120885288	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:120885288G>A	ENST00000263713.5	+	17	1576	c.1362G>A	c.(1360-1362)ctG>ctA	p.L454L	EPB41L5_ENST00000452780.1_Silent_p.L454L|EPB41L5_ENST00000443902.2_Silent_p.L454L	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	454						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TTGATTTGCTGAATAGCCCAG	0.373000													12	63					0	0	0.001368	0	0
TRAPPC12	51112	broad.mit.edu	37	2	3391925	3391925	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:3391925G>A	ENST00000324266.5	+	2	726	c.531G>A	c.(529-531)ccG>ccA	p.P177P	TRAPPC12_ENST00000382110.2_Silent_p.P177P	NM_016030.5	NP_057114.5	Q8WVT3	TTC15_HUMAN	trafficking protein particle complex 12	177							binding										GCTTCGAGCCGCAGATGGTGA	0.736000													4	14					0	0	0.009096	0	0
EXOC7	23265	broad.mit.edu	37	17	74099487	74099487	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:74099487G>A	ENST00000607838.1	-	2	175	c.81C>T	c.(79-81)ttC>ttT	p.F27F	EXOC7_ENST00000405575.4_Silent_p.F27F|EXOC7_ENST00000332065.5_Silent_p.F27F|EXOC7_ENST00000589210.1_Silent_p.F27F|EXOC7_ENST00000467929.2_5'UTR|EXOC7_ENST00000411744.2_Silent_p.F27F|EXOC7_ENST00000335146.7_Silent_p.F27F|EXOC7_ENST00000406660.3_Silent_p.F27F	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	27					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGTCTCGGATGAAGGACAGAG	0.632000													5	10					0	0	0.001168	0	0
THAP4	51078	broad.mit.edu	37	2	242573096	242573096	+	Missense_Mutation	SNP	T	T	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:242573096T>G	ENST00000407315.1	-	2	907	c.476A>C	c.(475-477)cAg>cCg	p.Q159P		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	159							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GGCGGCCTCCTGGGCCGCCCT	0.642000													27	44					0	0	0.004656	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135390	32135390	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:32135390G>A	ENST00000312561.4	+	4	1915	c.1501G>A	c.(1501-1503)Gat>Aat	p.D501N	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		TAACCAAGTTGATTCTGTTTT	0.383000													26	42					0	0	0.005443	0	0
SCN8A	6334	broad.mit.edu	37	12	52180406	52180406	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:52180406C>T	ENST00000354534.5	+	22	4201	c.4023C>T	c.(4021-4023)ttC>ttT	p.F1341F	SCN8A_ENST00000545061.1_Silent_p.F1300F	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1341					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GGCTGATTTTCAGCATCATGG	0.458000													8	67					0	0	0.003080	0	0
FEZ1	9638	broad.mit.edu	37	11	125351440	125351440	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:125351440G>C	ENST00000278919.3	-	3	635	c.401C>G	c.(400-402)tCt>tGt	p.S134C	FEZ1_ENST00000527350.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	134					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTCAGTGTCAGAGCAGTTGCC	0.473000													40	131					0	0	0.009718	0	0
LIM2	3982	broad.mit.edu	37	19	51890462	51890462	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:51890462G>T	ENST00000221973.3	-	2	278	c.236C>A	c.(235-237)gCc>gAc	p.A79D	LIM2_ENST00000596399.1_Intron	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GTGTCCTTGGGCCCCGAGGTC	0.632000													17	43					2.48551e-13	3.04687e-13	0.004990	1	0
WNT8B	7479	broad.mit.edu	37	10	102239763	102239763	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:102239763C>T	ENST00000343737.5	+	3	363	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	79					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGGTGGGCTTCGCAGTGGTAA	0.577000													11	36					0	0	0.008291	0	0
ATXN2	6311	broad.mit.edu	37	12	111954056	111954056	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:111954056G>C	ENST00000377617.3	-	10	1918	c.1757C>G	c.(1756-1758)tCc>tGc	p.S586C	ATXN2_ENST00000389153.4_Missense_Mutation_p.S321C|ATXN2_ENST00000542287.2_Missense_Mutation_p.S321C|ATXN2_ENST00000535949.1_Missense_Mutation_p.S297C|ATXN2_ENST00000550104.1_Missense_Mutation_p.S586C	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	586	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGGGGGCCTGGAGGGCGGCCG	0.627000													3	33					0	0	0.009096	0	0
TMEM168	64418	broad.mit.edu	37	7	112413045	112413045	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:112413045C>A	ENST00000312814.5	-	4	1897	c.1337G>T	c.(1336-1338)gGc>gTc	p.G446V	TMEM168_ENST00000454074.1_Missense_Mutation_p.G446V	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	446						integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATTGAGCATGCCAGTAGACCT	0.408000													16	26					1.15088e-07	1.31457e-07	0.004007	1	0
CALCRL	10203	broad.mit.edu	37	2	188228199	188228199	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:188228199G>T	ENST00000409998.1	-	10	1312	c.531C>A	c.(529-531)caC>caA	p.H177Q	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000410068.1_Missense_Mutation_p.H177Q|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.H177Q			Q16602	CALRL_HUMAN	calcitonin receptor-like	177						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			ACAGATTTTTGTGTAAGGTAA	0.348000													20	48					1.2644e-06	1.4175e-06	0.010504	1	0
SH2B1	25970	broad.mit.edu	37	16	28884069	28884069	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:28884069C>G	ENST00000359285.5	+	8	2164	c.1940C>G	c.(1939-1941)cCa>cGa	p.P647R	SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Intron|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Intron|SH2B1_ENST00000395532.4_Intron|SH2B1_ENST00000545570.1_Missense_Mutation_p.P337R	NM_001145795.1|NM_001145796.1|NM_001145797.1	NP_001139267.1|NP_001139268.1|NP_001139269.1	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	646					blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCCGTGCACCCAAGAAGTGAG	0.602000													4	20					0	0	0.009096	0	0
PRR19	284338	broad.mit.edu	37	19	42814443	42814443	+	Nonstop_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:42814443G>C	ENST00000598490.1	+	2	1119	c.707G>C	c.(706-708)tGa>tCa	p.*236S	PRR19_ENST00000341747.3_Missense_Mutation_p.E208Q|PRR19_ENST00000499536.2_Missense_Mutation_p.E208Q			A6NJB7	PRR19_HUMAN	proline rich 19	0										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGGGGTCTCTGAGAGAAAGAT	0.547000													17	55					0	0	0.004007	0	0
ASTN2	23245	broad.mit.edu	37	9	119858355	119858355	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:119858355G>T	ENST00000313400.4	-	5	1344	c.1244C>A	c.(1243-1245)aCg>aAg	p.T415K	ASTN2_ENST00000373996.3_Missense_Mutation_p.T415K|ASTN2_ENST00000361209.2_Missense_Mutation_p.T364K|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	415						integral to membrane		p.T364K(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTACTGCTCCGTGTAGAATGT	0.507000													17	34					8.34094e-07	9.37759e-07	0.008871	1	0
TSSC1	7260	broad.mit.edu	37	2	3341790	3341790	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:3341790C>T	ENST00000398659.4	-	3	397	c.257G>A	c.(256-258)aGa>aAa	p.R86K	TSSC1_ENST00000443925.2_Missense_Mutation_p.R86K|TSSC1_ENST00000382125.4_Missense_Mutation_p.R86K			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	86							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		GCACTTACTTCTGTTGTAGCA	0.448000													6	114					0	0	0.001168	0	0
ACRC	93953	broad.mit.edu	37	X	70824184	70824184	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:70824184G>C	ENST00000373695.1	+	7	1594	c.1057G>C	c.(1057-1059)Gag>Cag	p.E353Q	ACRC_ENST00000373696.3_Missense_Mutation_p.E353Q			Q96QF7	ACRC_HUMAN	acidic repeat containing	353						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGATGAAGAAGAGCTGGTTGA	0.468000													27	15					0	0	0.003954	0	0
KCNAB1	7881	broad.mit.edu	37	3	156009909	156009909	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:156009909G>C	ENST00000302490.8	+	1	1084	c.213G>C	c.(211-213)atG>atC	p.M71I	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron|KCNAB1_ENST00000389634.5_Missense_Mutation_p.M71I|KCNAB1_ENST00000471742.1_Intron	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	89						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.M71I(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGACTGGCATGAAATATAGGT	0.507000													3	60					0	0	0.009096	0	0
MBD3	53615	broad.mit.edu	37	19	1578486	1578486	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:1578486C>T	ENST00000590550.2	-	5	934	c.561G>A	c.(559-561)ctG>ctA	p.L187L	MBD3_ENST00000156825.1_Silent_p.L243L|MBD3_ENST00000434436.3_Silent_p.L243L|MBD3_ENST00000592012.1_Silent_p.L211L			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	243					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCGGCCATCAGCGCCTCCT	0.672000													7	94					0	0	0.001984	0	0
RIN2	54453	broad.mit.edu	37	20	19955755	19955755	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:19955755G>A	ENST00000255006.6	+	8	1382	c.1233G>A	c.(1231-1233)aaG>aaA	p.K411K	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	362					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCCGGCTGAAGAAGCAGGCTT	0.612000													5	35					0	0	0.000602	0	0
RASA4B	100271927	broad.mit.edu	37	7	102136619	102136619	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:102136619G>C	ENST00000481893.1	-	16	1947	c.823C>G	c.(823-825)Ctg>Gtg	p.L275V	RASA4B_ENST00000465829.1_Missense_Mutation_p.L347V|RASA4B_ENST00000306682.6_Missense_Mutation_p.L275V|RASA4B_ENST00000541662.1_Missense_Mutation_p.L347V					RAS p21 protein activator 4B											skin(1)	1						TTTGAGGCCAGAGAGTTGCTC	0.537000													6	225					0	0	0.001984	0	0
MED12	9968	broad.mit.edu	37	X	70339602	70339602	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:70339602C>T	ENST00000333646.6	+	3	470	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C	MED12_ENST00000374080.3_Missense_Mutation_p.R91C|MED12_ENST00000374102.1_Missense_Mutation_p.R91C	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	91					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGACACTGGTCGCAGGAAGCC	0.493000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						13	10					0	0	0.002450	0	0
FAM78B	149297	broad.mit.edu	37	1	166039555	166039555	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:166039555G>C	ENST00000338353.3	-	3	1298	c.709C>G	c.(709-711)Ccc>Gcc	p.P237A	FAM78B_ENST00000354422.3_Missense_Mutation_p.P237A			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	237										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					TTGGCATTGGGTTTCACTAGT	0.627000													36	110					0	0	0.003755	0	0
MCF2L2	23101	broad.mit.edu	37	3	182948790	182948790	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:182948790G>C	ENST00000328913.3	-	16	2175	c.1878C>G	c.(1876-1878)gaC>gaG	p.D626E	MCF2L2_ENST00000447025.2_Missense_Mutation_p.D626E|MCF2L2_ENST00000473233.1_Missense_Mutation_p.D626E	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	626	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TCTCAAGCAAGTCACGTATAA	0.398000													3	26					0	0	0.009096	0	0
MKI67	4288	broad.mit.edu	37	10	129904597	129904597	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:129904597C>G	ENST00000368654.3	-	13	5882	c.5507G>C	c.(5506-5508)aGa>aCa	p.R1836T	MKI67_ENST00000368653.3_Missense_Mutation_p.R1476T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1836	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GAAAAGCTCTCTGAAGCCAGT	0.488000													19	201					0	0	0.001882	0	0
MAP2K5	5607	broad.mit.edu	37	15	67878235	67878235	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:67878235G>C	ENST00000178640.5	+	5	957	c.330G>C	c.(328-330)aaG>aaC	p.K110N	MAP2K5_ENST00000354498.5_Missense_Mutation_p.K74N|MAP2K5_ENST00000395476.2_Missense_Mutation_p.K110N|MAP2K5_ENST00000560591.1_3'UTR	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	110					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						CAGCCTGCAAGCCTCCTGGGG	0.378000													6	40					0	0	0.001984	0	0
TSPAN33	340348	broad.mit.edu	37	7	128804319	128804319	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:128804319G>A	ENST00000289407.4	+	5	477	c.368G>A	c.(367-369)cGa>cAa	p.R123Q		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	123						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						CGGCAGGCTCGAGGGAAAGTG	0.463000											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	20	89					0	0	0.002780	0	0
SZT2	23334	broad.mit.edu	37	1	43906134	43906134	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:43906134G>A	ENST00000562955.1	+	51	7050	c.7050G>A	c.(7048-7050)agG>agA	p.R2350R	SZT2_ENST00000372442.1_Silent_p.R1508R	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2407						peroxisome				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						GAAGTCTCAGGAACGGATCGT	0.537000													7	104					0	0	0.004482	0	0
ABRA	137735	broad.mit.edu	37	8	107782193	107782193	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:107782193G>A	ENST00000311955.3	-	1	280	c.226C>T	c.(226-228)Cag>Tag	p.Q76*		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	76					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GGGGCACTCTGAGCTTTCTGG	0.572000													21	95					0	0	0.002299	0	0
OR5A1	219982	broad.mit.edu	37	11	59211508	59211508	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:59211508C>A	ENST00000302030.2	+	1	892	c.867C>A	c.(865-867)aaC>aaA	p.N289K		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CCATGCTGAACCCTCTCATTT	0.468000													55	93					3.73128e-16	4.65376e-16	0.003610	1	0
IRAK3	11213	broad.mit.edu	37	12	66638404	66638404	+	Silent	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:66638404A>G	ENST00000261233.4	+	9	1447	c.1026A>G	c.(1024-1026)ccA>ccG	p.P342P	IRAK3_ENST00000457197.2_Silent_p.P281P	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	342	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GGTACATGCCAGAAGAGTACA	0.428000													13	28					0	0	0.001368	0	0
TJP2	9414	broad.mit.edu	37	9	71851058	71851058	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:71851058G>A	ENST00000377245.4	+	13	2103	c.1895G>A	c.(1894-1896)cGa>cAa	p.R632Q	TJP2_ENST00000539225.1_Missense_Mutation_p.R663Q|TJP2_ENST00000453658.2_Missense_Mutation_p.R609Q|TJP2_ENST00000535702.1_Missense_Mutation_p.R636Q|TJP2_ENST00000348208.4_Missense_Mutation_p.R632Q|TJP2_ENST00000265384.7_Missense_Mutation_p.R632Q	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	632	SH3.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GAGGTCTTCCGAGTGGTAGAC	0.517000													25	57					0	0	0.003330	0	0
DNAH3	55567	broad.mit.edu	37	16	20996849	20996849	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:20996849G>A	ENST00000261383.3	-	48	7214	c.7215C>T	c.(7213-7215)tcC>tcT	p.S2405S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2405	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACATGACCAGGGACATGGGGG	0.522000													7	91					0	0	0.001984	0	0
TRIP4	9325	broad.mit.edu	37	15	64716342	64716342	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:64716342C>G	ENST00000261884.3	+	10	1531	c.1471C>G	c.(1471-1473)Ctt>Gtt	p.L491V		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	491					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						ATATCGTCTTCTTCGTGGGAA	0.453000													5	67					0	0	0.001168	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223140	118223140	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:118223140G>A	ENST00000402510.2	-	11	2052	c.2053C>T	c.(2053-2055)Ctc>Ttc	p.L685F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	685										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCTACTGAGAGAATGGCCTCC	0.453000													15	11					0	0	0.004007	0	0
CXorf22	170063	broad.mit.edu	37	X	35989005	35989005	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:35989005A>T	ENST00000297866.5	+	11	2001	c.1935A>T	c.(1933-1935)ttA>ttT	p.L645F		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	645										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTAAATATTTAAGAAGTGTGC	0.303000													5	2					0	0	0.000602	0	0
ZNF395	55893	broad.mit.edu	37	8	28218455	28218455	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:28218455T>C	ENST00000344423.5	-	2	318	c.187A>G	c.(187-189)Aag>Gag	p.K63E	ZNF395_ENST00000523202.1_Missense_Mutation_p.K63E|ZNF395_ENST00000523095.1_Missense_Mutation_p.K63E	NM_018660.2	NP_061130.1	Q9H8N7	ZN395_HUMAN	zinc finger protein 395	63					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		CTGGGAGCCTTAAGGACTTCC	0.632000													5	22					0	0	0.000602	0	0
SLC7A8	23428	broad.mit.edu	37	14	23609699	23609699	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:23609699C>T	ENST00000316902.7	-	5	1494	c.769G>A	c.(769-771)Gag>Aag	p.E257K	SLC7A8_ENST00000453702.1_Missense_Mutation_p.E54K|SLC7A8_ENST00000529705.2_Missense_Mutation_p.E152K|SLC7A8_ENST00000469263.1_Missense_Mutation_p.E257K|SLC7A8_ENST00000532568.1_5'UTR|SLC7A8_ENST00000422941.2_Intron	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	257					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	TCAACAAGCTCCTCAGTCACG	0.532000													19	202					0	0	0.008871	0	0
SFTPB	6439	broad.mit.edu	37	2	85890488	85890488	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:85890488G>T	ENST00000342375.3	-	9	1118	c.983C>A	c.(982-984)tCc>tAc	p.S328Y	SFTPB_ENST00000519937.2_Missense_Mutation_p.S328Y|SFTPB_ENST00000409383.1_Missense_Mutation_p.S340Y|SFTPB_ENST00000393822.3_Missense_Mutation_p.S340Y	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN	surfactant protein B	328	Saposin B-type 3.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						GTCCAGCCAGGAGCCAACACA	0.622000													24	47					1.04121e-07	1.19451e-07	0.005443	1	0
ZAN	7455	broad.mit.edu	37	7	100373101	100373101	+	RNA	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:100373101G>C	ENST00000542585.1	+	0	6076				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCAAGCATGAGAAGGAGGAAG	0.552000													5	31					0	0	0.000602	0	0
ARPP21	10777	broad.mit.edu	37	3	35785414	35785414	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:35785414C>T	ENST00000187397.4	+	18	2445	c.1989C>T	c.(1987-1989)aaC>aaT	p.N663N	ARPP21_ENST00000444190.1_Silent_p.N644N|ARPP21_ENST00000417925.1_Silent_p.N664N|ARPP21_ENST00000337271.5_Silent_p.N644N|ARPP21_ENST00000458225.1_Silent_p.N664N	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	663	Gln-rich.					cytoplasm	nucleic acid binding	p.N663N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TTCAGTACAACGCTCAGAGGA	0.502000													25	35					0	0	0.003330	0	0
BBS2	583	broad.mit.edu	37	16	56534840	56534840	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:56534840G>C	ENST00000245157.5	-	11	1743	c.1323C>G	c.(1321-1323)atC>atG	p.I441M	BBS2_ENST00000568104.1_Missense_Mutation_p.I441M	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	441					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TAGGGATGCAGATGGAACTGG	0.478000									Bardet-Biedl syndrome				17	42					0	0	0.004990	0	0
ROBO2	6092	broad.mit.edu	37	3	77666845	77666845	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:77666845G>A	ENST00000461745.1	+	22	4375	c.3475G>A	c.(3475-3477)Gaa>Aaa	p.E1159K	ROBO2_ENST00000469233.1_3'UTR|ROBO2_ENST00000332191.8_Missense_Mutation_p.E1159K|ROBO2_ENST00000487694.3_Missense_Mutation_p.E1175K	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1159					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATCCCCACGGGAAGAGATGCA	0.478000													5	70					0	0	0.000602	0	0
CUX2	23316	broad.mit.edu	37	12	111748404	111748404	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:111748404G>A	ENST00000261726.6	+	15	1972	c.1818G>A	c.(1816-1818)aaG>aaA	p.K606K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	606						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGAAGGGCAAGGAGCCCTTCA	0.622000													24	79					0	0	0.002299	0	0
CTSK	1513	broad.mit.edu	37	1	150769293	150769293	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:150769293G>A	ENST00000271651.3	-	8	1082	c.972C>T	c.(970-972)gcC>gcT	p.A324A		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	324					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGGGAAGCTGGCCAGGTTGG	0.493000													68	156					0	0	0.003610	0	0
ACAT1	38	broad.mit.edu	37	11	108016991	108016991	+	Silent	SNP	T	T	C	rs139657823	byFrequency	TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:108016991T>C	ENST00000265838.4	+	11	1159	c.1068T>C	c.(1066-1068)ttT>ttC	p.F356F		NM_000019.3	NP_000010.1	P24752	THIL_HUMAN	acetyl-CoA acetyltransferase 1	356					acetoacetic acid biosynthetic process|branched chain family amino acid catabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	acetyl-CoA C-acetyltransferase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|prostate(2)	10		all_cancers(61;6.41e-10)|all_epithelial(67;2.83e-06)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;2.96e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.00108)|OV - Ovarian serous cystadenocarcinoma(223;0.192)	Sulfasalazine(DB00795)	ATGAAGCCTTTAGTCTGGTTG	0.343000													78	127					0	0	0.003610	0	0
SYDE2	84144	broad.mit.edu	37	1	85656030	85656030	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:85656030G>C	ENST00000341460.5	-	2	1200	c.1151C>G	c.(1150-1152)tCa>tGa	p.S384*		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	384					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CAAGGCACTTGATATACCAAG	0.443000													8	37					0	0	0.004482	0	0
DNER	92737	broad.mit.edu	37	2	230253101	230253101	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:230253101C>T	ENST00000341772.4	-	11	1869	c.1735G>A	c.(1735-1737)Gac>Aac	p.D579N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	579	EGF-like 9.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		ATGTCAATGTCGCACTCTTCA	0.498000													54	102					0	0	0.003610	0	0
SHPK	23729	broad.mit.edu	37	17	3526675	3526675	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:3526675C>G	ENST00000225519.3	-	4	707	c.605G>C	c.(604-606)tGg>tCg	p.W202S		NM_013276.2	NP_037408.2	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	202					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAAATAGCCCCAGCTGGCAGC	0.562000													55	83					0	0	0.003610	0	0
IMPDH1	3614	broad.mit.edu	37	7	128040393	128040393	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:128040393G>A	ENST00000338791.6	-	8	1130	c.780C>T	c.(778-780)ctC>ctT	p.L260L	IMPDH1_ENST00000419067.2_Silent_p.L227L|IMPDH1_ENST00000480861.1_Silent_p.L170L|IMPDH1_ENST00000496200.1_Silent_p.L150L|IMPDH1_ENST00000354269.5_Silent_p.L250L|IMPDH1_ENST00000470772.1_Silent_p.L174L|IMPDH1_ENST00000343214.4_Silent_p.L150L|IMPDH1_ENST00000378717.4_Silent_p.L191L|IMPDH1_ENST00000348127.6_Silent_p.L224L	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	175					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GTACCTCACTGAGGAGGGTGG	0.632000													5	22					0	0	0.001168	0	0
OR4K5	79317	broad.mit.edu	37	14	20389623	20389623	+	Silent	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:20389623T>C	ENST00000315915.4	+	1	883	c.858T>C	c.(856-858)atT>atC	p.I286I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I286M(2)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCCCATTATTTATACACTAA	0.403000													33	107					0	0	0.003271	0	0
MFSD5	84975	broad.mit.edu	37	12	53647136	53647136	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:53647136C>G	ENST00000534842.1	+	2	985	c.838C>G	c.(838-840)Cga>Gga	p.R280G	MFSD5_ENST00000329548.4_Missense_Mutation_p.R173G	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	173					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TACCTTTGCTCGAGCTGCCTT	0.602000													7	225					0	0	0.003080	0	0
SRRM2	23524	broad.mit.edu	37	16	2818133	2818133	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:2818133C>T	ENST00000301740.8	+	11	8153	c.7604C>T	c.(7603-7605)tCg>tTg	p.S2535L	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2535	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTtcctcctcgtcgtcgtcg	0.617000													13	27					0	0	0.001368	0	0
PLOD3	8985	broad.mit.edu	37	7	100859822	100859822	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:100859822C>G	ENST00000223127.3	-	3	605	c.207G>C	c.(205-207)ctG>ctC	p.L69L		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	69					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	CTCCCAGGCCCAGGGTCTGTG	0.602000													14	40					0	0	0.003163	0	0
FPGT-TNNI3K	100526835	broad.mit.edu	37	1	74819799	74819799	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:74819799G>C	ENST00000370895.1	+	13	1501	c.1466G>C	c.(1465-1467)tGg>tCg	p.W489S	TNNI3K_ENST00000326637.3_Missense_Mutation_p.W388S|FPGT-TNNI3K_ENST00000557284.1_Missense_Mutation_p.W489S|FPGT-TNNI3K_ENST00000370899.3_Missense_Mutation_p.W489S|TNNI3K_ENST00000370891.2_Missense_Mutation_p.W489S|RP11-439H8.4_ENST00000415549.2_RNA			Q59H18	TNI3K_HUMAN		388	Protein kinase.					cytoplasm|nucleus	ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding										TGTTTGATGTGGGCTTATGAA	0.378000													23	77					0	0	0.003954	0	0
LILRA1	11024	broad.mit.edu	37	19	55106781	55106781	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:55106781G>T	ENST00000453777.1	+	5	745	c.575G>T	c.(574-576)aGg>aTg	p.R192M	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R192M|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	192	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCGAGTCGCAGGTGGTCGTAC	0.572000													63	150					5.45122e-27	7.02146e-27	0.003610	1	0
LOXL3	84695	broad.mit.edu	37	2	74762799	74762799	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:74762799G>A	ENST00000264094.3	-	8	1403	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	LOXL3_ENST00000409249.1_Intron|LOXL3_ENST00000393937.2_Silent_p.L299L|LOXL3_ENST00000409986.1_Silent_p.L299L|LOXL3_ENST00000409549.1_Intron	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	444	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CCCCACAGATGAGGCCCCAGC	0.632000													29	78					0	0	0.005443	0	0
GBP7	388646	broad.mit.edu	37	1	89615129	89615129	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:89615129T>A	ENST00000294671.2	-	7	1136	c.998A>T	c.(997-999)cAc>cTc	p.H333L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	333						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		CTGGCTGTAGTGGTTGGCTGC	0.572000													29	89					0	0	0.009535	0	0
FANCM	57697	broad.mit.edu	37	14	45645502	45645502	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:45645502T>A	ENST00000267430.5	+	14	3630	c.3545T>A	c.(3544-3546)cTt>cAt	p.L1182H	FANCM_ENST00000542564.2_Missense_Mutation_p.L1156H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1182					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TCTGATGAACTTTTGTTGGAC	0.383000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				19	44					0	0	0.006122	0	0
RB1	5925	broad.mit.edu	37	13	48951166	48951166	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:48951166C>G	ENST00000267163.4	+	13	1466	c.1328C>G	c.(1327-1329)tCa>tGa	p.S443*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	443	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(9)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAAATTGGATCACAGGTAACT	0.328000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			24	17					0	0	0.003954	0	0
COG8	84342	broad.mit.edu	37	16	69368948	69368948	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:69368948C>T	ENST00000306875.4	-	3	1003	c.889G>A	c.(889-891)Gac>Aac	p.D297N	COG8_ENST00000562081.1_Missense_Mutation_p.D297N	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	297					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AGCAGTGGGTCCTCGTCTGAG	0.512000													12	32					0	0	0.000978	0	0
CEACAM20	125931	broad.mit.edu	37	19	45016948	45016948	+	RNA	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:45016948C>T	ENST00000454753.1	-	0	1770							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTGTGGGGTGCTCCTCCTTCG	0.592000											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	27					0	0	0.001855	0	0
CDON	50937	broad.mit.edu	37	11	125830926	125830926	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:125830926C>T	ENST00000392693.3	-	20	3902	c.3775G>A	c.(3775-3777)Gag>Aag	p.E1259K	CDON_ENST00000531738.1_Missense_Mutation_p.E613K|CDON_ENST00000263577.7_Missense_Mutation_p.E1236K	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	1259					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GCACAGCCCTCGGGGACAGGT	0.522000													5	79					0	0	0.000602	0	0
GJC1	10052	broad.mit.edu	37	17	42883090	42883090	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:42883090C>G	ENST00000426548.1	-	3	365	c.96G>C	c.(94-96)cgG>cgC	p.R32R	GJC1_ENST00000330514.4_Silent_p.R32R|GJC1_ENST00000592524.1_Silent_p.R32R|GJC1_ENST00000590758.1_Silent_p.R32R	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	32					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TAAGGACGATCCGGAAGACAA	0.478000													21	41					0	0	0.010504	0	0
BRSK2	9024	broad.mit.edu	37	11	1466885	1466885	+	Silent	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:1466885C>A	ENST00000308219.9	+	11	1448	c.1062C>A	c.(1060-1062)ccC>ccA	p.P354P	BRSK2_ENST00000528710.1_Silent_p.P294P|BRSK2_ENST00000531197.1_Silent_p.P354P|BRSK2_ENST00000528841.1_Silent_p.P354P|BRSK2_ENST00000526678.1_Silent_p.P354P|BRSK2_ENST00000308230.5_Silent_p.P354P|BRSK2_ENST00000382179.1_Silent_p.P400P|BRSK2_ENST00000544817.1_Silent_p.P49P	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	354					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACCTGCCCCCCCGGAACGAGA	0.637000													4	4					0.000602214	0.000657341	0.000602	1	0
ZBED2	79413	broad.mit.edu	37	3	111312626	111312626	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:111312626C>G	ENST00000317012.4	-	2	1431	c.423G>C	c.(421-423)agG>agC	p.R141S	CD96_ENST00000283285.5_Intron|CD96_ENST00000438817.2_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	141							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GCTCCAGGAGCCTACCCCAGT	0.642000													18	64					0	0	0.006122	0	0
CHRNB4	1143	broad.mit.edu	37	15	78921963	78921963	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:78921963G>C	ENST00000261751.3	-	5	795	c.684C>G	c.(682-684)atC>atG	p.I228M	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	228					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GCTTGCGCTTGATGATGAAGT	0.572000													10	162					0	0	0.006214	0	0
SLC9C2	284525	broad.mit.edu	37	1	173567147	173567147	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:173567147G>C	ENST00000367714.3	-	4	675	c.253C>G	c.(253-255)Cta>Gta	p.L85V	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	85					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GATGTTCTTAGAAGAGGGTAG	0.308000													8	57					0	0	0.003080	0	0
MYT1L	23040	broad.mit.edu	37	2	1843127	1843127	+	Silent	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:1843127C>A	ENST00000399161.2	-	21	3621	c.2874G>T	c.(2872-2874)ggG>ggT	p.G958G	MYT1L_ENST00000428368.2_Silent_p.G956G|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	958					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGCCGTCGCACCCGGGGACCG	0.617000													16	79					6.49762e-13	7.9281e-13	0.006122	1	0
CHD4	1108	broad.mit.edu	37	12	6710617	6710617	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:6710617T>C	ENST00000309577.6	-	6	800	c.637A>G	c.(637-639)Agt>Ggt	p.S213G	CHD4_ENST00000544484.1_Missense_Mutation_p.S210G|CHD4_ENST00000544040.1_Missense_Mutation_p.S206G|CHD4_ENST00000357008.2_Missense_Mutation_p.S213G			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	213					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TTATTGGTACTGAACTCCCGC	0.532000													24	200					0	0	0.003954	0	0
ADCK3	56997	broad.mit.edu	37	1	227172960	227172960	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:227172960C>G	ENST00000366779.1	+	19	4349	c.1578C>G	c.(1576-1578)atC>atG	p.I526M	ADCK3_ENST00000433743.2_Missense_Mutation_p.I200M|ADCK3_ENST00000366775.1_Missense_Mutation_p.I371M|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000366776.1_Missense_Mutation_p.I451M|ADCK3_ENST00000366777.3_Missense_Mutation_p.I526M|ADCK3_ENST00000458507.2_Missense_Mutation_p.I247M|ADCK3_ENST00000366778.1_Missense_Mutation_p.I474M			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	526					cell death	mitochondrion	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						CCCAGATCATCAGGGCTGCTG	0.637000													75	126					0	0	0.003610	0	0
COL3A1	1281	broad.mit.edu	37	2	189873714	189873714	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:189873714G>T	ENST00000304636.3	+	48	3760	c.3590G>T	c.(3589-3591)tGt>tTt	p.C1197F	COL3A1_ENST00000317840.5_Missense_Mutation_p.C894F	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1197	Nonhelical region (C-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGTCCTTGCTGTGGTGGTGTT	0.542000													28	59					1.77063e-15	2.19793e-15	0.005443	1	0
CBX4	8535	broad.mit.edu	37	17	77808994	77808994	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:77808994C>G	ENST00000269397.4	-	5	624	c.447G>C	c.(445-447)aaG>aaC	p.K149N	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	149	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGTAGTAGTACTTGCCGCTCT	0.642000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	115					0	0	0.003080	0	0
FAM221B	392307	broad.mit.edu	37	9	35825852	35825852	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:35825852C>G	ENST00000423537.2	-	2	576	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	TMEM8B_ENST00000377996.1_Intron	NM_001012446.3	NP_001012448.2	A6H8Z2	CI128_HUMAN	family with sequence similarity 221, member B	103										endometrium(2)|kidney(1)|lung(4)	7						AGGTGTTTCTCTGGCACCACT	0.493000											OREG0019180	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	152					0	0	0.004482	0	0
AKAP6	9472	broad.mit.edu	37	14	33004780	33004780	+	Silent	SNP	T	T	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:33004780T>G	ENST00000280979.4	+	3	515	c.345T>G	c.(343-345)tcT>tcG	p.S115S	AKAP6_ENST00000557272.1_Silent_p.S115S|AKAP6_ENST00000557354.1_Silent_p.S115S	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	115					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAGATATTTCTGATCATGTTG	0.448000													30	63					0	0	0.009535	0	0
MAGEA8	4107	broad.mit.edu	37	X	149013498	149013498	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:149013498C>T	ENST00000535454.1	+	4	1001	c.452C>T	c.(451-453)cCt>cTt	p.P151L	MAGEA8_ENST00000286482.1_Missense_Mutation_p.P151L|MAGEA8_ENST00000542674.1_Missense_Mutation_p.P151L	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	151	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AACCACTTTCCTGATATCTTC	0.468000													38	23					0	0	0.005524	0	0
TRPV6	55503	broad.mit.edu	37	7	142571849	142571849	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:142571849A>G	ENST00000359396.3	-	12	1744	c.1499T>C	c.(1498-1500)gTc>gCc	p.V500A		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	500					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCCCAGGATGACCACAGCCAT	0.542000													5	16					0	0	0.001168	0	0
FAT2	2196	broad.mit.edu	37	5	150885569	150885569	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:150885569G>C	ENST00000261800.5	-	23	12619	c.12607C>G	c.(12607-12609)Ctg>Gtg	p.L4203V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4203					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGGGCGGCAGAGGGCCCTGA	0.617000													7	125					0	0	0.001984	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138432218	138432218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:138432218C>T	ENST00000310018.2	-	13	1554	c.1272G>A	c.(1270-1272)tgG>tgA	p.W424*	ATP6V0A4_ENST00000393054.1_Nonsense_Mutation_p.W424*|ATP6V0A4_ENST00000353492.4_Nonsense_Mutation_p.W424*	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	424					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCAGAATCATCCAAAGTGCAG	0.498000													15	38					0	0	0.004990	0	0
UGT3A2	167127	broad.mit.edu	37	5	36064368	36064368	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:36064368C>G	ENST00000282507.3	-	2	280	c.179G>C	c.(178-180)aGa>aCa	p.R60T	UGT3A2_ENST00000545528.1_5'UTR|UGT3A2_ENST00000513300.1_Intron|UGT3A2_ENST00000504954.1_5'UTR	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	60						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAAAGGACCTCTTTTGTGGTT	0.408000													3	40					0	0	0.004672	0	0
FHOD3	80206	broad.mit.edu	37	18	34298119	34298119	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr18:34298119C>A	ENST00000257209.4	+	16	2455	c.2333C>A	c.(2332-2334)tCc>tAc	p.S778Y	FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000359247.4_Missense_Mutation_p.S761Y|FHOD3_ENST00000590592.1_Missense_Mutation_p.S953Y|FHOD3_ENST00000445677.1_Missense_Mutation_p.S740Y	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	761					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGGAGAGGTTCCATCTCCCCT	0.547000													10	103					0.00010058	0.000110246	0.001368	1	0
PLD3	23646	broad.mit.edu	37	19	40873616	40873616	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:40873616G>A	ENST00000409587.1	+	6	656	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	PLD3_ENST00000409419.1_Missense_Mutation_p.E87K|PLD3_ENST00000409735.4_Missense_Mutation_p.E87K|PLD3_ENST00000356508.5_Missense_Mutation_p.E87K|PLD3_ENST00000409281.1_Missense_Mutation_p.E87K			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	87					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			AGTGCTGGTGGAAAGCATTCC	0.657000													10	22					0	0	0.000978	0	0
CRISP1	167	broad.mit.edu	37	6	49808660	49808660	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:49808660G>T	ENST00000335847.4	-	6	585	c.484C>A	c.(484-486)Cgc>Agc	p.R162S	CRISP1_ENST00000505118.1_Missense_Mutation_p.R162S|CRISP1_ENST00000329411.5_Missense_Mutation_p.R162S|CRISP1_ENST00000355791.2_Missense_Mutation_p.R162S|CRISP1_ENST00000507853.1_Missense_Mutation_p.R162S|CRISP1_ENST00000536021.1_Missense_Mutation_p.R162S	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	162					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					CCTTGTTGGCGGCAAGATGCA	0.343000													7	15					0.000274275	0.000299798	0.004482	1	0
KIN	22944	broad.mit.edu	37	10	7820891	7820891	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:7820891C>A	ENST00000379562.3	-	5	515	c.468G>T	c.(466-468)gaG>gaT	p.E156D	KIN_ENST00000535925.1_Missense_Mutation_p.E156D|KIN_ENST00000543003.1_Missense_Mutation_p.E50D			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	156					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						TTTTCTTTTTCTCCAGTTCCA	0.448000													8	164					0.00307968	0.00332927	0.003080	1	0
NKTR	4820	broad.mit.edu	37	3	42678788	42678788	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:42678788G>C	ENST00000232978.8	+	13	1780	c.1592G>C	c.(1591-1593)gGa>gCa	p.G531A	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	531	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TATTCTAGAGGAAGCTCAAGA	0.438000													17	33					0	0	0.006122	0	0
DMD	1756	broad.mit.edu	37	X	31676131	31676131	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:31676131G>C	ENST00000357033.4	-	54	8209	c.8003C>G	c.(8002-8004)gCc>gGc	p.A2668G	DMD_ENST00000343523.2_Missense_Mutation_p.A208G|DMD_ENST00000541735.1_Missense_Mutation_p.A208G|DMD_ENST00000378707.3_Missense_Mutation_p.A208G|DMD_ENST00000378677.2_Missense_Mutation_p.A2664G|DMD_ENST00000359836.1_Missense_Mutation_p.A208G|DMD_ENST00000474231.1_Missense_Mutation_p.A208G	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2668					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCTCCAAGAGGCATTGATATT	0.388000													16	10					0	0	0.004990	0	0
MYOM3	127294	broad.mit.edu	37	1	24416558	24416558	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:24416558C>G	ENST00000330966.7	-	13	1648	c.1486G>C	c.(1486-1488)Gaa>Caa	p.E496Q	MYOM3_ENST00000374434.3_Missense_Mutation_p.E495Q|MYOM3_ENST00000329601.7_Missense_Mutation_p.E495Q|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	495										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CGCGTACCTTCAAAAGCGTCT	0.552000													19	29					0	0	0.008871	0	0
ATAD5	79915	broad.mit.edu	37	17	29204497	29204497	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:29204497C>T	ENST00000321990.4	+	16	4226	c.3848C>T	c.(3847-3849)tCa>tTa	p.S1283L		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1283					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GCAACTAATTCAAATGTCAAA	0.299000													14	51					0	0	0.001855	0	0
FAM47B	170062	broad.mit.edu	37	X	34961093	34961093	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:34961093G>C	ENST00000329357.5	+	1	181	c.145G>C	c.(145-147)Gta>Cta	p.V49L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	49										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAGAACTGGGTATTTGTGAC	0.557000													15	15					0	0	0.006122	0	0
PSKH2	85481	broad.mit.edu	37	8	87076574	87076574	+	Silent	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:87076574G>T	ENST00000276616.2	-	2	546	c.472C>A	c.(472-474)Cgg>Agg	p.R158R	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	158	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			ACGGCATCCCGCTCTGTAAAG	0.478000													23	31					5.35356e-11	6.42264e-11	0.002780	1	0
DSCAM	1826	broad.mit.edu	37	21	41725461	41725461	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr21:41725461C>A	ENST00000400454.1	-	5	1342	c.865G>T	c.(865-867)Ggc>Tgc	p.G289C		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	289	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ACATAGCTGCCTGAGTCCGAG	0.532000													36	54					1.57351e-24	2.01359e-24	0.003755	1	0
KCNT2	343450	broad.mit.edu	37	1	196395104	196395104	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:196395104C>T	ENST00000367433.5	-	11	1100	c.999G>A	c.(997-999)gtG>gtA	p.V333V	KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Silent_p.V333V|KCNT2_ENST00000294725.8_Silent_p.V333V|KCNT2_ENST00000498426.1_5'UTR			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	333						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GACACAAAATCACCACATAAT	0.338000													22	40					0	0	0.002780	0	0
RAPGEF3	10411	broad.mit.edu	37	12	48142645	48142645	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:48142645G>C	ENST00000405493.2	-	11	1194	c.985C>G	c.(985-987)Cag>Gag	p.Q329E	RAPGEF3_ENST00000395358.3_Missense_Mutation_p.Q371E|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.Q371E|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.Q371E|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.Q329E|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.Q329E|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.Q329E	NM_001098532.2|NM_006105.5	NP_001092002.1|NP_006096.2	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	329					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		CCGGCGCCCTGAGAGGCTCTC	0.587000													9	150					0	0	0.008291	0	0
SYNE2	23224	broad.mit.edu	37	14	64676276	64676276	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:64676276G>C	ENST00000357395.3	+	103	18819	c.7675G>C	c.(7675-7677)Gag>Cag	p.E2559Q	SYNE2_ENST00000344113.4_Missense_Mutation_p.E6174Q|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2808Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6136Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2559Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6174Q|SYNE2_ENST00000555022.1_Missense_Mutation_p.E52Q|SYNE2_ENST00000554805.1_5'UTR			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6174					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGTGCCAAAGAGGAACTGAA	0.522000													11	36					0	0	0.000978	0	0
TGM2	7052	broad.mit.edu	37	20	36759569	36759569	+	Silent	SNP	G	G	A	rs138893457		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:36759569G>A	ENST00000361475.2	-	12	2012	c.1839C>T	c.(1837-1839)ctC>ctT	p.L613L	TGM2_ENST00000536701.1_Silent_p.L532L|TGM2_ENST00000536724.1_Silent_p.L553L	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	613					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	GGGCCACAGGGAGCGGGTTCT	0.622000													28	54					0	0	0.006320	0	0
TUBA3E	112714	broad.mit.edu	37	2	130953816	130953816	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:130953816G>A	ENST00000312988.7	-	2	232	c.132C>T	c.(130-132)ggC>ggT	p.G44G		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	44					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					AGTCGTCCCCGCCACCAATGG	0.557000													32	65					0	0	0.007835	0	0
C7	730	broad.mit.edu	37	5	40972598	40972598	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:40972598G>C	ENST00000313164.9	+	15	2335	c.1976G>C	c.(1975-1977)tGt>tCt	p.C659S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	659	Sushi 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACTGTTTCCTGTTCAGGTGGC	0.468000													30	128					0	0	0.007291	0	0
ESPL1	9700	broad.mit.edu	37	12	53683205	53683205	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:53683205G>A	ENST00000257934.4	+	22	5031	c.4940G>A	c.(4939-4941)cGa>cAa	p.R1647Q	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1647Q	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1647					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAGAAGCACCGAGGATCACTT	0.592000													9	92					0	0	0.008291	0	0
ZNF513	130557	broad.mit.edu	37	2	27601829	27601829	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:27601829C>G	ENST00000323703.6	-	3	502	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	ZNF513_ENST00000491924.1_5'UTR|ZNF513_ENST00000407879.1_Missense_Mutation_p.E40Q	NM_144631.5	NP_653232.3	Q8N8E2	ZN513_HUMAN	zinc finger protein 513	102	Gly-rich.				regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGGCTCCTCAACTTCACTC	0.692000													16	30					0	0	0.004990	0	0
ANKRD35	148741	broad.mit.edu	37	1	145555774	145555774	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:145555774C>G	ENST00000355594.4	+	2	209	c.122C>G	c.(121-123)tCc>tGc	p.S41C	ANKRD35_ENST00000544626.1_Missense_Mutation_p.S41C	NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	41										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCCTGGCCTCCAGGAAATCT	0.622000													11	50					0	0	0.008291	0	0
FAM171B	165215	broad.mit.edu	37	2	187627389	187627389	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:187627389C>A	ENST00000304698.5	+	8	2523	c.2320C>A	c.(2320-2322)Cac>Aac	p.H774N		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	774						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GATCATGGAGCACCCTGGAGA	0.507000													16	48					6.31663e-08	7.27846e-08	0.003163	1	0
DHX9	1660	broad.mit.edu	37	1	182829269	182829269	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:182829269G>A	ENST00000367549.3	+	12	1392	c.1282G>A	c.(1282-1284)Gac>Aac	p.D428N		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	428	Helicase ATP-binding.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CATTCTAGATGACTTTATCCA	0.423000													5	58					0	0	0.001168	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436647	72436647	+	Silent	SNP	T	T	C	rs139164945		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:72436647T>C	ENST00000392627.1	+	2	1993	c.867T>C	c.(865-867)ttT>ttC	p.F289F	GPRC5C_ENST00000392629.2_Silent_p.F256F|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	244						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						ATGGGGTCTTTGTGCTCCTCA	0.602000													22	51					0	0	0.002299	0	0
FREM2	341640	broad.mit.edu	37	13	39265120	39265120	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:39265120C>G	ENST00000280481.7	+	1	3855	c.3639C>G	c.(3637-3639)ctC>ctG	p.L1213L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1213					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CACCCATTCTCAATGCTGCTG	0.423000													14	114					0	0	0.002450	0	0
SGSM2	9905	broad.mit.edu	37	17	2270677	2270677	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:2270677C>T	ENST00000268989.3	+	12	1578	c.1401C>T	c.(1399-1401)ctC>ctT	p.L467L	SGSM2_ENST00000574563.1_Intron|SGSM2_ENST00000426855.2_Intron	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	429						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CGCGGAACCTCACAGCTCCCA	0.632000											OREG0024082	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	30					0	0	0.003080	0	0
BAI3	577	broad.mit.edu	37	6	70034871	70034871	+	Silent	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:70034871T>A	ENST00000370598.1	+	21	3743	c.2922T>A	c.(2920-2922)atT>atA	p.I974I	BAI3_ENST00000238918.8_Silent_p.I180I	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	974					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CTGGAAAAATTAGGACACGGC	0.413000													32	26					0	0	0.002836	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130392185	130392185	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:130392185C>T	ENST00000529410.1	+	15	1636	c.1157C>T	c.(1156-1158)tCa>tTa	p.S386L	L3MBTL3_ENST00000533560.1_Missense_Mutation_p.S361L|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.S386L|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.S361L|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.S386L|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.S361L			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	386					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		AAGAATCCCTCATTCATCTGT	0.418000													18	74					0	0	0.006122	0	0
KCNAB1	7881	broad.mit.edu	37	3	156175293	156175293	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:156175293G>C	ENST00000302490.8	+	4	1226	c.355G>C	c.(355-357)Gat>Cat	p.D119H	KCNAB1_ENST00000389636.5_Missense_Mutation_p.D137H|KCNAB1_ENST00000490337.1_Missense_Mutation_p.D137H|KCNAB1_ENST00000389634.5_Missense_Mutation_p.D119H|KCNAB1_ENST00000471742.1_Missense_Mutation_p.D126H|KCNAB1_ENST00000497291.1_3'UTR	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	137						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TAACCTCTTTGATACTGCCGA	0.463000													6	146					0	0	0.003080	0	0
CACNA1B	774	broad.mit.edu	37	9	140953581	140953581	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:140953581C>T	ENST00000277549.5	+	31	4681	c.2112C>T	c.(2110-2112)atC>atT	p.I704I	CACNA1B_ENST00000371355.4_Silent_p.I1509I|CACNA1B_ENST00000371357.1_Silent_p.I1509I|CACNA1B_ENST00000371363.1_Silent_p.I1508I|CACNA1B_ENST00000371372.1_Silent_p.I1508I|CACNA1B_ENST00000277551.2_Silent_p.I1508I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1508					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCCTGAACATCGTGTTCACAT	0.517000													9	15					0	0	0.000978	0	0
CACNA1H	8912	broad.mit.edu	37	16	1257047	1257047	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:1257047G>C	ENST00000348261.5	+	13	3084	c.2836G>C	c.(2836-2838)Gac>Cac	p.D946H	CACNA1H_ENST00000565831.1_Missense_Mutation_p.D946H|CACNA1H_ENST00000358590.4_Missense_Mutation_p.D946H|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	946					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTGAAGACAGACACCGGAGA	0.637000													2	4					0	0	0.004672	0	0
KIAA0100	9703	broad.mit.edu	37	17	26959988	26959988	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:26959988G>C	ENST00000528896.2	-	20	3851	c.3777C>G	c.(3775-3777)atC>atG	p.I1259M	KIAA0100_ENST00000544884.1_Missense_Mutation_p.I1116M|KIAA0100_ENST00000389003.3_Missense_Mutation_p.I1116M	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1259						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GATCCATCTTGATGGAGAGAT	0.612000													8	121					0	0	0.006214	0	0
SPSB1	80176	broad.mit.edu	37	1	9416268	9416268	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:9416268G>A	ENST00000328089.6	+	2	659	c.318G>A	c.(316-318)atG>atA	p.M106I	SPSB1_ENST00000377399.2_Missense_Mutation_p.M106I|SPSB1_ENST00000357898.3_Missense_Mutation_p.M106I	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	106	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CGTGGGCCATGAGACAGCGGG	0.647000													13	116					0	0	0.001368	0	0
RECQL5	9400	broad.mit.edu	37	17	73624513	73624513	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:73624513C>G	ENST00000317905.5	-	18	2749	c.2590G>C	c.(2590-2592)Gag>Cag	p.E864Q	RECQL5_ENST00000423245.2_Missense_Mutation_p.E837Q|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	864					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCTGGCTCTCTGGGTTCTCC	0.652000								Other identified genes with known or suspected DNA repair function					10	37					0	0	0.006214	0	0
CNTN3	5067	broad.mit.edu	37	3	74350885	74350885	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:74350885C>T	ENST00000263665.6	-	14	1885	c.1858G>A	c.(1858-1860)Gaa>Aaa	p.E620K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	620	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TCTTTACCTTCTTTCCAAGAG	0.458000													10	35					0	0	0.000978	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011461	21011461	+	Silent	SNP	A	A	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:21011461A>C	ENST00000381545.3	+	5	534	c.315A>C	c.(313-315)ggA>ggC	p.G105G	SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B3_ENST00000261196.2_Silent_p.G105G|SLCO1B7_ENST00000554957.1_Silent_p.G105G|LST3_ENST00000540229.1_Silent_p.G105G|LST3_ENST00000381541.3_Silent_p.G105G|SLCO1B3_ENST00000553473.1_Silent_p.G105G	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	105					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TCCTTATGGGAACTGGAAGTA	0.333000													8	45					0	0	0.003080	0	0
CCND3	896	broad.mit.edu	37	6	41903779	41903779	+	Nonsense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:41903779G>C	ENST00000510503.1	-	4	650	c.398C>G	c.(397-399)tCa>tGa	p.S133*	CCND3_ENST00000372988.4_Missense_Mutation_p.Q179E|CCND3_ENST00000372991.4_Missense_Mutation_p.Q260E|CCND3_ENST00000372987.4_Missense_Mutation_p.Q210E|CCND3_ENST00000414200.2_Missense_Mutation_p.Q188E|CCND3_ENST00000511686.1_5'UTR|CCND3_ENST00000511642.1_Missense_Mutation_p.Q179E|CCND3_ENST00000415497.2_Missense_Mutation_p.Q64E			P30281	CCND3_HUMAN	cyclin D3	0	Cyclin N-terminal.				cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding	p.Q260*(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAGCTGGTCTGAGAGGCTTCC	0.627000			T	IGH@	MM								11	14					0	0	0.000978	0	0
INTS7	25896	broad.mit.edu	37	1	212180053	212180053	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:212180053C>A	ENST00000366994.3	-	7	911	c.807G>T	c.(805-807)aaG>aaT	p.K269N	INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.K220N|INTS7_ENST00000366992.3_Missense_Mutation_p.K269N|INTS7_ENST00000366993.3_Missense_Mutation_p.K269N	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	269					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TAGCAAGTCTCTTTACTGCCT	0.333000													36	62					3.3946e-10	4.02949e-10	0.005524	1	0
KRBA2	124751	broad.mit.edu	37	17	8285480	8285480	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:8285480C>T	ENST00000582471.1	-	2	199	c.149G>A	c.(148-150)cGa>cAa	p.R50Q	RPL26_ENST00000582556.1_Missense_Mutation_p.R50Q|RPL26_ENST00000578812.1_Missense_Mutation_p.R50Q|RPL26_ENST00000293842.5_Missense_Mutation_p.R50Q|RPL26_ENST00000585176.1_Intron|RPL26_ENST00000584164.1_Missense_Mutation_p.R50Q|RPL26_ENST00000583011.1_Missense_Mutation_p.R50Q																							ATCATCCTTTCGGATGGGCAT	0.438000													7	66					0	0	0.004482	0	0
GTDC1	79712	broad.mit.edu	37	2	144764846	144764846	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:144764846C>A	ENST00000409214.1	-	7	1056	c.778G>T	c.(778-780)Ggt>Tgt	p.G260C	GTDC1_ENST00000463875.2_Missense_Mutation_p.G131C|GTDC1_ENST00000241391.5_Missense_Mutation_p.G260C|GTDC1_ENST00000542155.1_Missense_Mutation_p.G260C|GTDC1_ENST00000344850.4_Missense_Mutation_p.G260C|GTDC1_ENST00000392867.3_Missense_Mutation_p.G260C|GTDC1_ENST00000392869.1_Missense_Mutation_p.G260C|GTDC1_ENST00000409298.1_Intron	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	260					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TTATTTTCACCATGATGAGAG	0.408000													10	38					0.00621372	0.00670809	0.006214	1	0
ATP2A1	487	broad.mit.edu	37	16	28898834	28898834	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:28898834C>T	ENST00000395503.4	+	8	903	c.719C>T	c.(718-720)gCt>gTt	p.A240V	ATP2A1_ENST00000357084.3_Missense_Mutation_p.A240V|ATP2A1_ENST00000536376.1_Missense_Mutation_p.A115V	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	240					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GACCAAATGGCTGCCACAGAA	0.587000													45	93					0	0	0.008740	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111767996	111767996	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:111767996C>G	ENST00000375741.2	+	1	373	c.123C>G	c.(121-123)ctC>ctG	p.L41L	ARHGEF7_ENST00000317133.5_Silent_p.L41L|ARHGEF7-AS2_ENST00000425094.2_RNA|ARHGEF7_ENST00000375739.2_Silent_p.L41L|ARHGEF7_ENST00000370623.3_Silent_p.L41L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	41	CH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGGTGGTCCTCTGCAGGCTGC	0.701000													7	16					0	0	0.001984	0	0
FBXO42	54455	broad.mit.edu	37	1	16577171	16577171	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:16577171C>G	ENST00000375592.3	-	10	2364	c.2148G>C	c.(2146-2148)aaG>aaC	p.K716N		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	716										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		CACATTATCTCTTTGCTCGTA	0.378000													34	91					0	0	0.004289	0	0
ABCD2	225	broad.mit.edu	37	12	39947747	39947747	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:39947747C>G	ENST00000308666.3	-	10	2325	c.2190G>C	c.(2188-2190)ctG>ctC	p.L730L		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	730					fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TAATTGTTTTCAGCACTGAGT	0.313000													3	15					0	0	0.004672	0	0
PPIAL4G	644591	broad.mit.edu	37	1	143767599	143767599	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:143767599C>G	ENST00000419275.1	-	1	282	c.250G>C	c.(250-252)Gat>Cat	p.D84H		NM_001123068.1	NP_001116540.1	A2BFH1	PAL4G_HUMAN	peptidylprolyl isomerase A (cyclophilin A)-like 4G	84	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						TTCTCATCATCAAATTTCTCC	0.468000													37	235					0	0	0.009718	0	0
RASA2	5922	broad.mit.edu	37	3	141299244	141299244	+	Nonsense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:141299244C>G	ENST00000286364.3	+	16	1660	c.1625C>G	c.(1624-1626)tCa>tGa	p.S542*	RASA2_ENST00000452898.1_Nonsense_Mutation_p.S542*|RASA2_ENST00000509118.1_3'UTR			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	542	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACTCTCATCTCAAAAACTATA	0.308000													3	51					0	0	0.004672	0	0
MAMDC4	158056	broad.mit.edu	37	9	139752026	139752026	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr9:139752026G>C	ENST00000445819.1	+	20	2601	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q	MAMDC4_ENST00000317446.2_Missense_Mutation_p.E772Q|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	851	MAM 5.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCATACCACTGAGACAGCCCA	0.672000													4	78					0	0	0.000602	0	0
CDK12	51755	broad.mit.edu	37	17	37650802	37650802	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:37650802G>A	ENST00000447079.4	+	5	2307	c.2274G>A	c.(2272-2274)gtG>gtA	p.V758V	CDK12_ENST00000430627.2_Silent_p.V758V	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	758	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGAAGAAGGTGAGACTAGACA	0.403000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			9	22					0	0	0.004482	0	0
KRT4	3851	broad.mit.edu	37	12	53201515	53201515	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:53201515C>T	ENST00000293774.4	-	7	1751	c.1481G>A	c.(1480-1482)cGt>cAt	p.R494H	KRT4_ENST00000458244.2_Missense_Mutation_p.R400H|KRT4_ENST00000551956.1_Missense_Mutation_p.R420H			B4DRS2	B4DRS2_HUMAN	keratin 4	420						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CTGGTACTCACGCAGCATTCG	0.602000													21	93					0	0	0.003330	0	0
GBP7	388646	broad.mit.edu	37	1	89630425	89630425	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:89630425C>T	ENST00000294671.2	-	3	445	c.307G>A	c.(307-309)Gat>Aat	p.D103N		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	103						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTTTCCATATCACCCAGGCCC	0.448000													12	43					0	0	0.000978	0	0
CHD8	57680	broad.mit.edu	37	14	21878105	21878105	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:21878105C>G	ENST00000399982.2	-	10	2333	c.2269G>C	c.(2269-2271)Gag>Cag	p.E757Q	CHD8_ENST00000557364.1_Missense_Mutation_p.E757Q|CHD8_ENST00000430710.3_Missense_Mutation_p.E478Q|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	757	Chromo 2.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGCTATCCTCATAGGGCAGA	0.443000													10	49					0	0	0.006214	0	0
FAAH	2166	broad.mit.edu	37	1	46871923	46871923	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:46871923C>G	ENST00000243167.8	+	7	918	c.834C>G	c.(832-834)ctC>ctG	p.L278L	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	278					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	CAGTGCGTCTCTCCGTGGGCC	0.662000											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	75					0	0	0.001168	0	0
CALCA	796	broad.mit.edu	37	11	14989264	14989264	+	Missense_Mutation	SNP	G	G	T	rs139972831		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:14989264G>T	ENST00000361010.3	-	4	438	c.364C>A	c.(364-366)Cgc>Agc	p.R122S	CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Missense_Mutation_p.R122S	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	122					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	TCCCTGCGGCGCCTGCCAAAG	0.542000													5	48					3.59834e-05	3.96069e-05	0.001168	1	0
UGT2B28	54490	broad.mit.edu	37	4	70155453	70155453	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:70155453C>A	ENST00000335568.5	+	4	1075	c.1073C>A	c.(1072-1074)cCc>cAc	p.P358H	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	358					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAGTGGATACCCCAGAATGAC	0.363000													20	45					7.41877e-09	8.62419e-09	0.001882	1	0
GMDS	2762	broad.mit.edu	37	6	2116082	2116082	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr6:2116082T>A	ENST00000380815.4	-	4	537	c.268A>T	c.(268-270)Agt>Tgt	p.S90C	GMDS_ENST00000530927.1_Missense_Mutation_p.S60C	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	90					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		AGGCAGGTACTGTCAGTGAGA	0.393000													33	50					0	0	0.002445	0	0
KLHL18	23276	broad.mit.edu	37	3	47385414	47385414	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:47385414C>G	ENST00000232766.5	+	10	1728	c.1708C>G	c.(1708-1710)Cct>Gct	p.P570A	KLHL18_ENST00000455924.2_Missense_Mutation_p.P458A	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	570										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GGGCTGCATCCCTCTCCTCAC	0.582000													5	86					0	0	0.000602	0	0
OSR2	116039	broad.mit.edu	37	8	99961562	99961562	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:99961562G>C	ENST00000297565.4	+	2	878	c.382G>C	c.(382-384)Gag>Cag	p.E128Q	OSR2_ENST00000457907.2_Missense_Mutation_p.E249Q|OSR2_ENST00000522510.1_Missense_Mutation_p.E128Q|OSR2_ENST00000435298.2_Missense_Mutation_p.E128Q|OSR2_ENST00000523368.1_Missense_Mutation_p.E128Q	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	128					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TGCCACGCAAGAGGATCCGCC	0.612000													13	181					0	0	0.001855	0	0
HBP1	26959	broad.mit.edu	37	7	106826860	106826860	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:106826860G>A	ENST00000222574.4	+	5	781	c.595G>A	c.(595-597)Gat>Aat	p.D199N	HBP1_ENST00000485846.1_Missense_Mutation_p.D199N|HBP1_ENST00000468410.1_Missense_Mutation_p.D199N	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	199	Poly-Asp.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GTCAGATGATGATGATTTGGG	0.348000													27	67					0	0	0.008361	0	0
HUWE1	10075	broad.mit.edu	37	X	53578045	53578045	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:53578045C>G	ENST00000342160.3	-	64	9659	c.9202G>C	c.(9202-9204)Gac>Cac	p.D3068H	HUWE1_ENST00000262854.6_Missense_Mutation_p.D3068H			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3068					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CGGCGCAGGTCTGAGGGCAGA	0.567000													8	18					0	0	0.004482	0	0
DPAGT1	1798	broad.mit.edu	37	11	118972266	118972266	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:118972266C>T	ENST00000409993.2	-	3	1651	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	DPAGT1_ENST00000354202.4_Missense_Mutation_p.G34S|DPAGT1_ENST00000432443.2_5'UTR|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	34					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		ATGAAGTGGCCCCGGAAGGCC	0.622000											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	103					0	0	0.009718	0	0
ZNFX1	57169	broad.mit.edu	37	20	47869364	47869364	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:47869364G>C	ENST00000396105.1	-	12	3355	c.3109C>G	c.(3109-3111)Cgc>Ggc	p.R1037G	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1037G|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1037G	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1037							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCACTGGGGCGCAGCTGAGAA	0.438000													15	65					0	0	0.002450	0	0
KDM1A	23028	broad.mit.edu	37	1	23380296	23380296	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:23380296G>C	ENST00000400181.4	+	5	858	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	KDM1A_ENST00000356634.3_Missense_Mutation_p.E232Q|KDM1A_ENST00000542151.1_Missense_Mutation_p.E252Q|RP1-184J9.2_ENST00000427154.1_RNA	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	232	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCTGACATTTGAGGCTACTCT	0.333000													6	16					0	0	0.001168	0	0
MARCH10	162333	broad.mit.edu	37	17	60814145	60814145	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:60814145G>T	ENST00000544856.2	-	7	1459	c.1081C>A	c.(1081-1083)Cca>Aca	p.P361T	MARCH10_ENST00000583600.1_Missense_Mutation_p.P400T|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Missense_Mutation_p.P362T|MARCH10_ENST00000311269.5_Missense_Mutation_p.P362T|RP11-156L14.1_ENST00000577270.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	362							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TCTGTTGCTGGCTCCATTGCA	0.468000													25	78					3.01185e-09	3.52203e-09	0.003954	1	0
DOCK4	9732	broad.mit.edu	37	7	111535703	111535703	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:111535703G>C	ENST00000428084.1	-	16	1824	c.1552C>G	c.(1552-1554)Ctt>Gtt	p.L518V	DOCK4_ENST00000437633.1_Missense_Mutation_p.L518V|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	518	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCATCTGGAAGAGTCCTACCA	0.408000													10	225					0	0	0.001855	0	0
TAF5	6877	broad.mit.edu	37	10	105141483	105141483	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:105141483C>G	ENST00000369839.3	+	6	1442	c.1419C>G	c.(1417-1419)ctC>ctG	p.L473L	TAF5_ENST00000351396.4_Silent_p.L473L	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	473					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		GGCAGGGTCTCACTGCAGTGG	0.383000													3	61					0	0	0.009096	0	0
LIM2	3982	broad.mit.edu	37	19	51890461	51890461	+	Silent	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:51890461G>T	ENST00000221973.3	-	2	279	c.237C>A	c.(235-237)gcC>gcA	p.A79A	LIM2_ENST00000596399.1_Intron	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	58					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		GGTGTCCTTGGGCCCCGAGGT	0.632000													18	44					6.49762e-13	7.9281e-13	0.006122	1	0
KIAA1614	57710	broad.mit.edu	37	1	180905601	180905601	+	Silent	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:180905601C>G	ENST00000367588.4	+	5	2611	c.2556C>G	c.(2554-2556)ctC>ctG	p.L852L	KIAA1614_ENST00000367587.1_Silent_p.L473L	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	852										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCGCGGTTCTCAGGACCTGTG	0.637000													10	61					0	0	0.000978	0	0
PHF14	9678	broad.mit.edu	37	7	11022100	11022100	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:11022100G>A	ENST00000403050.3	+	3	666	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	72	Glu/Lys-rich.						zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAACTGAATGAAGATATTAA	0.323000													3	14					0	0	0.004672	0	0
RHBDF1	64285	broad.mit.edu	37	16	108383	108383	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:108383C>T	ENST00000262316.6	-	18	2666	c.2524G>A	c.(2524-2526)Gac>Aac	p.D842N		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	842					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				CAGAACTTGTCAGTGAAGGGG	0.617000													12	84					0	0	0.000978	0	0
NCOR1	9611	broad.mit.edu	37	17	16005121	16005121	+	Splice_Site	SNP	T	T	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:16005121T>A	ENST00000395851.1	-	19	2226		c.e19-2		NCOR1_ENST00000395848.1_Splice_Site|NCOR1_ENST00000268712.3_Intron|NCOR1_ENST00000583226.1_Intron	NM_001190440.1	NP_001177369.1	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTCTGCACCTTAAAGATAAT	0.393000													8	9					0	0	0.003080	0	0
ASPA	443	broad.mit.edu	37	17	3397735	3397735	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:3397735C>T	ENST00000263080.2	+	5	884	c.726C>T	c.(724-726)atC>atT	p.I242I	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Silent_p.I242I	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	242					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	TTGCTGCTATCATCCATCCTA	0.353000													54	66					0	0	0.003610	0	0
NDST4	64579	broad.mit.edu	37	4	115792032	115792032	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr4:115792032G>C	ENST00000264363.2	-	7	2289	c.1611C>G	c.(1609-1611)gtC>gtG	p.V537V		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	537	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GCACAAAGTTGACCAAGTTCA	0.433000													5	31					0	0	0.000602	0	0
LRP1	4035	broad.mit.edu	37	12	57589536	57589536	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr12:57589536G>C	ENST00000243077.3	+	53	8999	c.8533G>C	c.(8533-8535)Gat>Cat	p.D2845H		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2845	LDL-receptor class A 18.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACTGTGCAGATGGCTCTGA	0.617000													4	70					0	0	0.001168	0	0
ALKBH4	54784	broad.mit.edu	37	7	102100182	102100182	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:102100182C>T	ENST00000292566.3	-	2	229	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	64						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GCCCAGCCCTCAAAGTCAGAC	0.577000													6	117					0	0	0.001168	0	0
ZNF41	7592	broad.mit.edu	37	X	47315755	47315755	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:47315755C>T	ENST00000377065.4	-	3	754	c.115G>A	c.(115-117)Gag>Aag	p.E39K	ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.E49K|ZNF41_ENST00000313116.7_Missense_Mutation_p.E39K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	81						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGCCACTCCTCCTTGCTGAAG	0.567000													16	12					0	0	0.006122	0	0
CTH	1491	broad.mit.edu	37	1	70877131	70877131	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:70877131C>T	ENST00000411986.2	+	1	231	c.33C>T	c.(31-33)ttC>ttT	p.F11F	CTH_ENST00000346806.2_Silent_p.F11F|CTH_ENST00000464926.1_3'UTR|CTH_ENST00000370938.3_Silent_p.F11F	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	11					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CACAAGGTTTCCTGCCACACT	0.552000													16	92					0	0	0.006122	0	0
TPP2	7174	broad.mit.edu	37	13	103249427	103249427	+	Silent	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:103249427C>T	ENST00000376052.3	+	1	55	c.39C>T	c.(37-39)caC>caT	p.H13H	TPP2_ENST00000376065.4_Silent_p.H13H			P29144	TPP2_HUMAN	tripeptidyl peptidase II	13					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCCCTTTTCACGGTCTCCTGC	0.672000													11	25					0	0	0.000978	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144952209	144952209	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:144952209C>G	ENST00000369359.4	-	7	959	c.921G>C	c.(919-921)caG>caC	p.Q307H	PDE4DIP_ENST00000369347.4_Missense_Mutation_p.Q170H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q236H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q307H|PDE4DIP_ENST00000369348.3_Missense_Mutation_p.Q307H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.Q170H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.Q170H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.Q170H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q170H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	170					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTTGTCCCTCTGGGCCAGGG	0.527000			T	PDGFRB	MPD								14	207					0	0	0.004007	0	0
NIPBL	25836	broad.mit.edu	37	5	37000610	37000610	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr5:37000610G>A	ENST00000282516.8	+	12	3939	c.3440G>A	c.(3439-3441)cGa>cAa	p.R1147Q	NIPBL_ENST00000448238.2_Missense_Mutation_p.R1147Q	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1147					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGTCGTTATCGAAACCGAAGT	0.468000													30	105					0	0	0.008361	0	0
CCDC146	57639	broad.mit.edu	37	7	76916169	76916169	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:76916169G>A	ENST00000285871.4	+	16	2330	c.2203G>A	c.(2203-2205)Gat>Aat	p.D735N	CCDC146_ENST00000431197.1_Missense_Mutation_p.D449N|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	735										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				CGTAAAGCCTGATGGTGAGAA	0.353000													18	73					0	0	0.006122	0	0
SLC35D1	23169	broad.mit.edu	37	1	67518517	67518517	+	Silent	SNP	G	G	C			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:67518517G>C	ENST00000235345.5	-	3	346	c.261C>G	c.(259-261)ctC>ctG	p.L87L	SLC35D1_ENST00000506472.2_Silent_p.L8L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	87					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TTCCCACCCAGAGAACTGCCA	0.413000													24	64					0	0	0.003954	0	0
TTN	7273	broad.mit.edu	37	2	179616070	179616070	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:179616070C>T	ENST00000360870.5	-	46	11279	c.11057G>A	c.(11056-11058)tGg>tAg	p.W3686*	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9533	Ig-like 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACATTAAGCCAACCTCTTAT	0.333000													9	65					0	0	0.004482	0	0
SMOX	54498	broad.mit.edu	37	20	4162601	4162601	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr20:4162601C>T	ENST00000305958.4	+	4	812	c.587C>T	c.(586-588)gCc>gTc	p.A196V	SMOX_ENST00000346595.2_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.A196V|SMOX_ENST00000278795.3_Missense_Mutation_p.A196V|SMOX_ENST00000484515.1_3'UTR|SMOX_ENST00000339123.6_Missense_Mutation_p.A196V	NM_175839.1	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	196					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	CTGAAGCTCGCCATGATCCAG	0.597000													27	54					0	0	0.004656	0	0
XDH	7498	broad.mit.edu	37	2	31602800	31602800	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:31602800C>G	ENST00000379416.3	-	13	1223	c.1175G>C	c.(1174-1176)gGc>gCc	p.G392A		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	392	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CTTTCTGTAGCCAGGGAAGAA	0.557000													19	64					0	0	0.006122	0	0
SNX29P2	440352	broad.mit.edu	37	16	29370656	29370656	+	RNA	SNP	G	G	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:29370656G>T	ENST00000398878.3	+	0	1186				SNX29P2_ENST00000507381.1_RNA																							CATGGCAGCAGGTAAGCCTGG	0.512000													19	70					2.32416e-17	2.90797e-17	0.002299	1	0
SLITRK5	26050	broad.mit.edu	37	13	88330134	88330134	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr13:88330134C>T	ENST00000325089.6	+	2	2710	c.2491C>T	c.(2491-2493)Ccc>Tcc	p.P831S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.P590S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	831						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CTTGCGGAGCCCCGCCTACAG	0.692000													6	14					0	0	0.001168	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21544746	21544746	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr14:21544746C>G	ENST00000298694.4	+	7	1988	c.1861C>G	c.(1861-1863)Cag>Gag	p.Q621E	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.Q621E			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	621					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TCCCCTTGTTCAGCGGCTGCT	0.502000													13	188					0	0	0.001368	0	0
OR10H1	26539	broad.mit.edu	37	19	15918233	15918233	+	Silent	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr19:15918233G>A	ENST00000334920.2	-	1	703	c.615C>T	c.(613-615)atC>atT	p.I205I		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GCAGGGCCGTGATACACACCA	0.562000													32	38					0	0	0.003755	0	0
P4HTM	54681	broad.mit.edu	37	3	49027813	49027813	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:49027813G>A	ENST00000343546.4	+	1	492	c.124G>A	c.(124-126)Gag>Aag	p.E42K	P4HTM_ENST00000383729.4_Missense_Mutation_p.E42K	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	42						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GGGCGACGGCGAGGACGCACC	0.731000													5	6					0	0	0.000602	0	0
SLC44A5	204962	broad.mit.edu	37	1	75702721	75702721	+	Nonsense_Mutation	SNP	C	C	A			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:75702721C>A	ENST00000370855.5	-	11	804	c.691G>T	c.(691-693)Gga>Tga	p.G231*	SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.G231*|SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.G101*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	231						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						ACTTTCAATCCAAGTGACTTT	0.328000													5	18					4.096e-09	4.78272e-09	0.001168	1	0
PADI6	353238	broad.mit.edu	37	1	17720687	17720687	+	RNA	DEL	G	G	-	rs67226027		TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:17720687delG	ENST00000434762.2	+	0	1233							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGGCCTCTGAGGGGGGAGGGG	0.587													8	13	---	---	---	---					
MFSD2A	84879	broad.mit.edu	37	1	40434140	40434140	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:40434140delT	ENST00000372809.5	+	12	1525	c.1382delT	c.(1381-1383)ccfs	p.L461fs	MFSD2A_ENST00000372811.5_Frame_Shift_Del_p.L448fs|MFSD2A_ENST00000420632.2_Frame_Shift_Del_p.L292fs|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	461					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATTTCTACCCTCAGTCTGGAG	0.597													24	32	---	---	---	---					
ANKRD20A12P	100874392	broad.mit.edu	37	1	142716575	142716578	+	RNA	DEL	AAAC	AAAC	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:142716575_142716578delAAAC	ENST00000595144.1	-	0	418																											catctcagaaaaacaaacaaacaa	0.422													8	83	---	---	---	---					
SPRR3	6707	broad.mit.edu	37	1	152975659	152975682	+	In_Frame_Del	DEL	GAGCCAGGCTGTACCAAGGTCCCT	GAGCCAGGCTGTACCAAGGTCCCT	-	rs67156933	byFrequency	TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:152975659_152975682delGAGCCAGGCTGTACCAAGGTCCCT	ENST00000331860.3	+	3	313_336	c.163_186delGAGCCAGGCTGTACCAAGGTCCCT	c.(163-186)del	p.EPGCTKVP95del	SPRR3_ENST00000295367.4_In_Frame_Del_p.EPGCTKVP95del|SPRR3_ENST00000542696.1_In_Frame_Del_p.EPGCTKVP87del	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	95	14 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAGATTCCAGAGCCAGGCTGTACCAAGGTCCCTGAGCCAGGCT	0.562													9	67	---	---	---	---					
NDUFS2	4720	broad.mit.edu	37	1	161180457	161180457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr1:161180457delG	ENST00000392179.4	+	9	1182	c.943delG	c.(943-945)agfs	p.E315fs	NDUFS2_ENST00000476409.2_Frame_Shift_Del_p.E217fs|NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000367993.3_Frame_Shift_Del_p.E315fs	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	315					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	CGACCAGGTTGAGTTTGATGT	0.517													20	44	---	---	---	---					
LRP1B	53353	broad.mit.edu	37	2	141079566	141079566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:141079566delC	ENST00000389484.3	-	82	13577	c.12606delG	c.(12604-12606)ttfs	p.L4202fs		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4202					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGCCATTAATCAAATATTTTC	0.378										TSP Lung(27;0.18)			18	60	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168114856	168114856	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr2:168114856delG	ENST00000409728.1	+	11	1988	c.1899delG	c.(1897-1899)ttfs	p.L633fs	XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Frame_Shift_Del_p.L600fs|XIRP2_ENST00000409605.1_Frame_Shift_Del_p.L378fs|XIRP2_ENST00000409756.2_Frame_Shift_Del_p.L600fs|XIRP2_ENST00000420519.1_Frame_Shift_Del_p.L633fs	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2712					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTCCATTTTTGCAGCCTTATC	0.373													13	34	---	---	---	---					
DNAH1	25981	broad.mit.edu	37	3	52357838	52357838	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr3:52357838delC	ENST00000420323.2	+	3	609	c.348delC	c.(346-348)ggfs	p.G116fs		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	116	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TATGTCGTGGCCCCCGAATGA	0.627													2	4	---	---	---	---					
TECPR1	25851	broad.mit.edu	37	7	97874250	97874250	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:97874250delC	ENST00000447648.2	-	4	654	c.355delG	c.(355-357)agfs	p.E119fs	TECPR1_ENST00000542604.1_Frame_Shift_Del_p.E40fs|TECPR1_ENST00000379795.3_Frame_Shift_Del_p.E119fs			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	119						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGTCAGACTCCCACTCCCAG	0.632													9	23	---	---	---	---					
NYAP1	222950	broad.mit.edu	37	7	100087046	100087046	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr7:100087046delA	ENST00000423930.1	+	4	1861	c.1702delA	c.(1702-1704)agfs	p.K568fs	NYAP1_ENST00000454988.1_Frame_Shift_Del_p.K511fs|NYAP1_ENST00000300179.2_Frame_Shift_Del_p.K568fs			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	568																	TGAGAGCCTCAAGGCTGGGGG	0.647													9	39	---	---	---	---					
MMP16	4325	broad.mit.edu	37	8	89068422	89068422	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr8:89068422delG	ENST00000286614.6	-	8	1588	c.1307delC	c.(1306-1308)ctfs	p.P436fs		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	436	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						AATACCATGAGGGGGAATTCC	0.423													10	31	---	---	---	---					
PIK3AP1	118788	broad.mit.edu	37	10	98411299	98411299	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr10:98411299delG	ENST00000339364.5	-	5	941	c.822delC	c.(820-822)tcfs	p.S274fs	PIK3AP1_ENST00000468783.1_5'UTR|PIK3AP1_ENST00000371110.2_Frame_Shift_Del_p.S96fs	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	274	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCGCGGCATTGGACAATAAAT	0.403													21	68	---	---	---	---					
OR52A5	390054	broad.mit.edu	37	11	5152984	5152985	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr11:5152984_5152985delCT	ENST00000307388.1	-	1	887_888	c.888_889delAG	c.(886-891)ggtgfs	p.GV296fs		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTGGTCTTCACTCCATAGACAA	0.376													16	18	---	---	---	---					
MTMR10	54893	broad.mit.edu	37	15	31253172	31253172	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr15:31253172delA	ENST00000435680.1	-	7	767	c.670delT	c.(670-672)acfs	p.Y224fs	MTMR10_ENST00000425768.1_Frame_Shift_Del_p.L193fs|MTMR10_ENST00000563714.1_Frame_Shift_Del_p.Y142fs|MTMR10_ENST00000314404.8_5'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	224	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAATCCGAGTAAGTTTCAAAG	0.468													2	4	---	---	---	---					
IRX5	10265	broad.mit.edu	37	16	54967457	54967457	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr16:54967457delG	ENST00000394636.4	+	3	1461	c.1124delG	c.(1123-1125)cgfs	p.R375fs	IRX5_ENST00000560154.1_Frame_Shift_Del_p.R155fs|IRX5_ENST00000558597.1_Frame_Shift_Del_p.R309fs|IRX5_ENST00000320990.5_Frame_Shift_Del_p.R374fs			P78411	IRX5_HUMAN	iroquois homeobox 5	375					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GGAGGCAGCCGGGCGTCGCCG	0.721													6	12	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7576910	7576910	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chr17:7576910delG	ENST00000420246.2	-	9	1068	c.936delC	c.(934-936)acfs	p.T312fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.T312fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.T312fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.T312fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.T312fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	312	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		T -> I (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.?(2)|p.T312T(2)|p.S313fs*24(2)|p.L308fs*15(1)|p.L308fs*31(1)|p.S313fs*32(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GAGAGGAGCTGGTGTTGTTGG	0.488		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			19	31	---	---	---	---					
KDM6A	7403	broad.mit.edu	37	X	44928864	44928865	+	Frame_Shift_Ins	INS	-	-	T			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:44928864_44928865insT	ENST00000377967.4	+	17	2005_2006	c.1964_1965insT	c.(1963-1965)aggfs	p.R655fs	KDM6A_ENST00000382899.4_Frame_Shift_Ins_p.R662fs|KDM6A_ENST00000536777.1_Frame_Shift_Ins_p.R610fs|KDM6A_ENST00000543216.1_Frame_Shift_Ins_p.R576fs	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	655					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGGTCCTAATGGTGAACGAC	0.441			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								18	17	---	---	---	---					
ALG13	79868	broad.mit.edu	37	X	110963342	110963342	+	Frame_Shift_Del	DEL	T	T	-			TCGA-55-6968-01A-11D-1945-08	TCGA-55-6968-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0f2b1ec3-597c-4509-aeae-07e57367fd72	c591743c-dac6-447b-8931-0bee8f4e1e99	g.chrX:110963342delT	ENST00000394780.3	+	11	1282	c.1270delT	c.(1270-1272)gcfs	p.C424fs	ALG13_ENST00000251943.4_Frame_Shift_Del_p.C320fs	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	424					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GTGGGGTGCCTGCTACAATGC	0.358													2	4	---	---	---	---					
