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
AMELX	265	broad.mit.edu	37	X	11316243	11316243	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:11316243C>G	ENST00000380712.3	+	4	191	c.123C>G	c.(121-123)atC>atG	p.I41M	ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000413512.3_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	34					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CTCAGGCTATCAATGTTGACA	0.363000													7	179					0	0	0.001984	0	0
POLR3E	55718	broad.mit.edu	37	16	22326444	22326444	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:22326444G>T	ENST00000299853.5	+	9	724	c.557G>T	c.(556-558)cGc>cTc	p.R186L	POLR3E_ENST00000359210.4_Missense_Mutation_p.R186L|POLR3E_ENST00000564209.1_Missense_Mutation_p.R186L|POLR3E_ENST00000418581.2_Missense_Mutation_p.R150L	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)	186					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)		GAGCAGGCCCGCCAGCGCCGT	0.647000													5	12					3.59834e-05	4.62352e-05	0.001168	1	0
STRN3	29966	broad.mit.edu	37	14	31381009	31381009	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:31381009C>T	ENST00000355683.5	-	10	1535	c.1320G>A	c.(1318-1320)gaG>gaA	p.E440E	STRN3_ENST00000357479.5_Silent_p.E524E	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	471					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TGTAGATAGGCTCTACATCTA	0.338000													12	28					0	0	0.001368	0	0
NLRP8	126205	broad.mit.edu	37	19	56490764	56490764	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:56490764G>T	ENST00000291971.3	+	9	2952	c.2881G>T	c.(2881-2883)Gaa>Taa	p.E961*	NLRP8_ENST00000590542.1_Nonsense_Mutation_p.E942*	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	961						cytoplasm	ATP binding	p.E961K(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCACAGGCTGGAAAACTGCCT	0.512000													11	84					3.86212e-05	4.92529e-05	0.008291	1	0
PLCH2	9651	broad.mit.edu	37	1	2428140	2428140	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:2428140G>T	ENST00000449969.1	+	14	2010	c.1849G>T	c.(1849-1851)Gag>Tag	p.E617*	PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Nonsense_Mutation_p.E644*|PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378488.3_Nonsense_Mutation_p.E644*|PLCH2_ENST00000419816.2_Nonsense_Mutation_p.E644*			O75038	PLCH2_HUMAN	phospholipase C, eta 2	644					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)		CATAGAGATGGAGGGTGAGTG	0.672000													7	4					0.00621372	0.00717819	0.006214	1	0
C3orf36	80111	broad.mit.edu	37	3	133647523	133647523	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:133647523C>T	ENST00000408895.2	-	1	1133	c.125G>A	c.(124-126)gGa>gAa	p.G42E		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	42										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGCCATTCCTCCAGGCCCTGA	0.622000													15	38					0	0	0.003163	0	0
AHSG	197	broad.mit.edu	37	3	186335114	186335114	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:186335114A>T	ENST00000411641.2	+	4	767	c.548A>T	c.(547-549)gAg>gTg	p.E183V	AHSG_ENST00000273784.5_Missense_Mutation_p.E184V			P02765	FETUA_HUMAN	alpha-2-HS-glycoprotein	183	Cystatin fetuin-A-type 2.				acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		TTTCAGCTGGAGGAAATTTCC	0.587000											OREG0015968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	77					0	0	0.002299	0	0
MEGF8	1954	broad.mit.edu	37	19	42855448	42855448	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:42855448C>T	ENST00000334370.4	+	15	3251	c.2616C>T	c.(2614-2616)gcC>gcT	p.A872A	MEGF8_ENST00000251268.6_Silent_p.A939A	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	939	PSI 2.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTCGGGGTGCCCTGAAGAGTC	0.677000													4	7					0	0	0.000602	0	0
PROS1	5627	broad.mit.edu	37	3	93603635	93603635	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:93603635C>A	ENST00000394236.3	-	12	1745	c.1429G>T	c.(1429-1431)Gtt>Ttt	p.V477F	PROS1_ENST00000407433.1_Missense_Mutation_p.V346F	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	477					leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TCCACAGTAACCAGGCAATGC	0.363000													16	41					1.5739e-10	2.59836e-10	0.004007	1	0
TTN	7273	broad.mit.edu	37	2	179594220	179594220	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179594220T>A	ENST00000589042.1	-	64	18887	c.18663A>T	c.(18661-18663)gaA>gaT	p.E6221D	TTN_ENST00000591111.1_Missense_Mutation_p.E5904D|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E4977D|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5904	Ig-like 43.						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)			TTCCCGTAACTTCACACTCCA	0.443000													36	86					0	0	0.005524	0	0
TLR3	7098	broad.mit.edu	37	4	187003533	187003533	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:187003533C>G	ENST00000296795.2	+	4	797	c.693C>G	c.(691-693)gtC>gtG	p.V231V	TLR3_ENST00000504367.1_5'UTR|TLR3_ENST00000508051.1_3'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	231					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGAACAATGTCCAGCTGGGTC	0.428000													17	98					0	0	0.006122	0	0
SS18L1	26039	broad.mit.edu	37	20	60737876	60737876	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:60737876G>T	ENST00000331758.3	+	5	471	c.445G>T	c.(445-447)Ggg>Tgg	p.G149W	SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000421564.1_Missense_Mutation_p.G149W|SS18L1_ENST00000370848.4_Missense_Mutation_p.G152W	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	149	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GAGCATCTCTGGGCCCGGCTA	0.662000			T	SSX1	synovial sarcoma								6	24					3.59834e-05	4.62352e-05	0.001168	1	0
F7	2155	broad.mit.edu	37	13	113772915	113772915	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:113772915A>T	ENST00000375581.3	+	9	1029	c.994A>T	c.(994-996)Acg>Tcg	p.T332S	F7_ENST00000346342.3_Missense_Mutation_p.T310S|F7_ENST00000541084.1_Missense_Mutation_p.T263S	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	332	Peptidase S1.		T -> M (in FA7D).		anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CTCTGAGAGGACGCTGGCCTT	0.677000													5	33					0	0	0.001984	0	0
HKDC1	80201	broad.mit.edu	37	10	71000429	71000429	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:71000429G>T	ENST00000354624.5	+	6	746	c.613G>T	c.(613-615)Gcc>Tcc	p.A205S	HKDC1_ENST00000395086.2_Missense_Mutation_p.A205S	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	205					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGACATCCTGGCCCTGGTCAA	0.572000													18	34					1.9806e-07	2.89439e-07	0.002299	1	0
MUC5B	727897	broad.mit.edu	37	11	1272524	1272524	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:1272524C>G	ENST00000447027.1	+	31	14481	c.14423C>G	c.(14422-14424)tCc>tGc	p.S4808C	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4805C			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4805	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCAATTCCACGGCCACA	0.602000													10	92					0	0	0.000978	0	0
NLRP13	126204	broad.mit.edu	37	19	56416458	56416458	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:56416458G>T	ENST00000588751.1	-	8	2492	c.2468C>A	c.(2467-2469)tCg>tAg	p.S823*	NLRP13_ENST00000342929.3_Nonsense_Mutation_p.S823*			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	823							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTGGCTGCCGACAAGTTGCA	0.527000													7	39					0.000157383	0.000193987	0.003080	1	0
LRP2	4036	broad.mit.edu	37	2	170092507	170092507	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170092507A>T	ENST00000263816.3	-	29	5048	c.4763T>A	c.(4762-4764)aTg>aAg	p.M1588K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1588					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GACAGTGCGCATGCTGCCGTC	0.522000													8	31					0	0	0.008291	0	0
OR5L1	219437	broad.mit.edu	37	11	55579578	55579578	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55579578G>C	ENST00000333973.2	+	1	725	c.636G>C	c.(634-636)atG>atC	p.M212I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M212I(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTACCATCATGATCATCCTCA	0.502000													30	108					0	0	0.007291	0	0
SEMA7A	8482	broad.mit.edu	37	15	74703307	74703307	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:74703307C>G	ENST00000261918.4	-	14	2207	c.1659G>C	c.(1657-1659)aaG>aaC	p.K553N	SEMA7A_ENST00000542748.1_Missense_Mutation_p.K388N|SEMA7A_ENST00000543145.2_Missense_Mutation_p.K539N	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	553	Ig-like C2-type.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						CCAGGGAAACCTTCTGCAGTG	0.627000													10	81					0	0	0.008291	0	0
ARNT2	9915	broad.mit.edu	37	15	80767527	80767527	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:80767527G>T	ENST00000533983.1	+	6	891	c.552G>T	c.(550-552)ctG>ctT	p.L184L	ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Silent_p.L184L|ARNT2_ENST00000303329.4_Silent_p.L195L			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	195	PAS 1.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGGAGAAGCTGAGAGAGCAAC	0.512000													19	56					2.94398e-08	4.44535e-08	0.007413	1	0
MSN	4478	broad.mit.edu	37	X	64949300	64949300	+	Splice_Site	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:64949300G>C	ENST00000360270.5	+	4	365	c.192_splice	c.e4-1	p.V65_splice		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	65	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						CTCTTCCCAGGTGACTGCCCA	0.478000			T	ALK	ALCL								14	70					0	0	0.004007	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885822	88885822	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:88885822C>T	ENST00000319675.3	-	1	474	c.378G>A	c.(376-378)aaG>aaA	p.K126K		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	126										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TAGAATTCACCTTCCGATTAG	0.562000													25	61					0	0	0.003954	0	0
F7	2155	broad.mit.edu	37	13	113771128	113771128	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:113771128G>T	ENST00000375581.3	+	7	655	c.620G>T	c.(619-621)aGc>aTc	p.S207I	F7_ENST00000346342.3_Missense_Mutation_p.S185I|F7_ENST00000541084.1_Missense_Mutation_p.S138I	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	207					anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	AGAAATGCCAGCAAACCCCAA	0.483000													14	110					2.23348e-06	3.10409e-06	0.004007	1	0
TMPRSS11B	132724	broad.mit.edu	37	4	69107514	69107514	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:69107514A>G	ENST00000332644.5	-	2	178	c.17T>C	c.(16-18)aTa>aCa	p.I6T		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	6					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TTGGGAAGATATGCCGTGCCT	0.383000													7	66					0	0	0.001984	0	0
FCRL1	115350	broad.mit.edu	37	1	157773730	157773730	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:157773730G>A	ENST00000358292.3	-	3	275	c.224C>T	c.(223-225)gCc>gTc	p.A75V	FCRL1_ENST00000368176.3_Missense_Mutation_p.A75V|FCRL1_ENST00000491942.1_Missense_Mutation_p.A75V|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	75	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTTCCACATGGCAGCGATCTG	0.547000													32	91					0	0	0.001786	0	0
WDR63	126820	broad.mit.edu	37	1	85547082	85547082	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:85547082T>G	ENST00000294664.6	+	4	449	c.269T>G	c.(268-270)gTc>gGc	p.V90G	WDR63_ENST00000370596.1_Missense_Mutation_p.V90G|WDR63_ENST00000326813.8_Missense_Mutation_p.V90G	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	90										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTCCACCCAGTCAAAAAAATT	0.383000													18	50					0	0	0.007413	0	0
PCLO	27445	broad.mit.edu	37	7	82544136	82544136	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:82544136C>A	ENST00000423517.2	-	7	13503	c.13166G>T	c.(13165-13167)aGg>aTg	p.R4389M	PCLO_ENST00000333891.8_Missense_Mutation_p.R4389M|PCLO_ENST00000437081.1_Missense_Mutation_p.R1109M	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4320					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAACTGATCCCTGGTGTCTGC	0.522000													10	28					1.58986e-06	2.23698e-06	0.008291	1	0
AGO1	26523	broad.mit.edu	37	1	36349034	36349034	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:36349034A>T	ENST00000373204.4	+	1	225	c.12A>T	c.(10-12)ggA>ggT	p.G4G	AGO1_ENST00000373206.1_Intron	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		TGGAAGCGGGACCCTCGGGAG	0.637000													9	40					0	0	0.006214	0	0
CAB39L	81617	broad.mit.edu	37	13	49951112	49951112	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:49951112T>C	ENST00000355854.4	-	3	764	c.267A>G	c.(265-267)atA>atG	p.I89M	CAB39L_ENST00000409308.1_Missense_Mutation_p.I89M|CAB39L_ENST00000410043.1_Missense_Mutation_p.I89M|CAB39L_ENST00000347776.5_Missense_Mutation_p.I89M	NM_030925.2	NP_112187.2	Q9H9S4	CB39L_HUMAN	calcium binding protein 39-like	89					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|stomach(1)	12		Lung NSC(96;2.11e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.66e-09)|COAD - Colon adenocarcinoma(199;0.226)		CCTCAAAGTCTATCAGCTGCA	0.423000													24	39					0	0	0.005443	0	0
FBXL20	84961	broad.mit.edu	37	17	37453402	37453402	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:37453402C>A	ENST00000264658.6	-	6	636	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W	FBXL20_ENST00000394294.3_Missense_Mutation_p.G126W|FBXL20_ENST00000577399.1_Missense_Mutation_p.G128W|FBXL20_ENST00000583610.1_Missense_Mutation_p.G126W	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	126						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TTTGTACACCCATTTAGATTC	0.368000													7	48					0.000274275	0.000335034	0.004482	1	0
CAMTA1	23261	broad.mit.edu	37	1	7527927	7527927	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:7527927C>T	ENST00000303635.7	+	6	683	c.476C>T	c.(475-477)cCc>cTc	p.P159L	CAMTA1_ENST00000439411.2_Missense_Mutation_p.P159L	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCCATCATCCCCACCTTCCAC	0.547000			T	WWTR1	epitheliod hemangioendothelioma								32	181					0	0	0.003271	0	0
LRP1B	53353	broad.mit.edu	37	2	141773396	141773396	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:141773396G>T	ENST00000389484.3	-	13	3030	c.2059C>A	c.(2059-2061)Cag>Aag	p.Q687K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	687					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)		ACAAAAATCTGCCGATTGAAT	0.423000										TSP Lung(27;0.18)			12	55					5.16669e-11	8.65563e-11	0.000978	1	0
MAGI1	9223	broad.mit.edu	37	3	65456115	65456115	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:65456115A>G	ENST00000330909.8	-	5	801	c.802T>C	c.(802-804)Tta>Cta	p.L268L	MAGI1_ENST00000402939.2_Silent_p.L268L|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Silent_p.L268L|MAGI1_ENST00000497477.2_Silent_p.L268L	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	268	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		ACAGGTGGTAATGCTGTTTCT	0.448000													20	53					0	0	0.002299	0	0
HNF4A	3172	broad.mit.edu	37	20	43034763	43034763	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:43034763G>C	ENST00000316099.3	+	2	270	c.181G>C	c.(181-183)Gcc>Ccc	p.A61P	HNF4A_ENST00000457232.1_Missense_Mutation_p.A39P|HNF4A_ENST00000443598.2_Missense_Mutation_p.A61P|HNF4A_ENST00000415691.1_Missense_Mutation_p.A61P	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	61					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGCCCTGTGTGCCATCTGCGG	0.632000													13	123					0	0	0.001855	0	0
GOLGA4	2803	broad.mit.edu	37	3	37360566	37360566	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:37360566G>C	ENST00000361924.2	+	12	1800	c.1426G>C	c.(1426-1428)Gaa>Caa	p.E476Q	GOLGA4_ENST00000356847.4_Missense_Mutation_p.E498Q|GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000435830.2_3'UTR	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	476	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATCCTCAGAAGAACAAATTGC	0.363000													4	95					0	0	0.000248	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146396	70146396	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:70146396G>T	ENST00000335568.5	+	1	180	c.178G>T	c.(178-180)Gct>Tct	p.A60S	UGT2B28_ENST00000511240.1_Missense_Mutation_p.A60S	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	60					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)	GGCATCTTCAGCTTCCATTCT	0.403000													88	134					1.16018e-38	2.39419e-38	0.003610	1	0
KIAA0226L	80183	broad.mit.edu	37	13	46935586	46935586	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:46935586G>C	ENST00000429979.1	-	8	1713	c.1109C>G	c.(1108-1110)gCt>gGt	p.A370G	KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A370G|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A303G|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.A213G|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A370G|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A235G|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A370G|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.A213G	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	370										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TATCGAGCCAGCTGCACTCAG	0.418000													8	29					0	0	0.004482	0	0
TSPAN32	10077	broad.mit.edu	37	11	2337814	2337814	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:2337814C>T	ENST00000182290.4	+	8	773	c.636C>T	c.(634-636)gcC>gcT	p.A212A	TSPAN32_ENST00000451520.2_Silent_p.A201A|TSPAN32_ENST00000381121.3_Silent_p.A212A	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	212					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGGTGTCCGCCTTGCTCTTCA	0.677000													12	37					0	0	0.000978	0	0
HTR1E	3354	broad.mit.edu	37	6	87726017	87726017	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:87726017C>A	ENST00000305344.4	+	2	1668	c.965C>A	c.(964-966)tCc>tAc	p.S322Y	HTR1E_ENST00000369584.1_Missense_Mutation_p.S322Y	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	322					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TACACCGTGTCCTCGGAAGTG	0.473000													34	187					3.76114e-14	6.81206e-14	0.004289	1	0
GUCY1B3	2983	broad.mit.edu	37	4	156696161	156696161	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:156696161G>C	ENST00000264424.8	+	3	201	c.119G>C	c.(118-120)aGa>aCa	p.R40T	GUCY1B3_ENST00000502959.1_Missense_Mutation_p.R40T|GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000505764.1_Missense_Mutation_p.R20T|GUCY1B3_ENST00000507146.1_5'UTR|GUCY1B3_ENST00000503520.1_Missense_Mutation_p.R40T|GUCY1B3_ENST00000505154.1_5'UTR	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	40					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		TTTCTTGTCAGAATAATATAT	0.358000													3	107					0	0	0.004672	0	0
CERS3	204219	broad.mit.edu	37	15	101024836	101024836	+	Missense_Mutation	SNP	G	G	C	rs138661052	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:101024836G>C	ENST00000284382.4	-	6	749	c.326C>G	c.(325-327)aCg>aGg	p.T109R	CERS3_ENST00000538112.2_Missense_Mutation_p.T109R|CERS3_ENST00000560944.1_Intron|CERS3_ENST00000394113.1_Missense_Mutation_p.T109R	NM_178842.3	NP_849164.2	Q8IU89	CERS3_HUMAN	ceramide synthase 3	109						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sphingosine N-acyltransferase activity	p.T109M(1)									CTGGCGCTCCGTCAAGTTACA	0.478000													9	18					0	0	0.004482	0	0
IDE	3416	broad.mit.edu	37	10	94228661	94228661	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:94228661C>A	ENST00000265986.6	-	19	2351	c.2295G>T	c.(2293-2295)cgG>cgT	p.R765R	IDE_ENST00000371581.5_Silent_p.R210R|IDE_ENST00000496903.1_5'UTR	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	765					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCTCTATACCGAACCAGCT	0.428000													3	33					2.56e-06	3.54702e-06	0.000248	1	0
PLCZ1	89869	broad.mit.edu	37	12	18858220	18858220	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:18858220T>A	ENST00000447925.2	-	7	1007	c.738A>T	c.(736-738)ttA>ttT	p.L246F	PLCZ1_ENST00000538330.1_Splice_Site|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L53F|PLCZ1_ENST00000539875.1_Missense_Mutation_p.L55F|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L248F|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L111F|PLCZ1_ENST00000542762.1_5'UTR	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	248	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					AGTGATTTTCTAAAGAGAGCA	0.368000													85	99					0	0	0.003610	0	0
OR4A15	81328	broad.mit.edu	37	11	55135452	55135452	+	Missense_Mutation	SNP	G	G	T	rs149233751		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55135452G>T	ENST00000314706.3	+	1	93	c.93G>T	c.(91-93)atG>atT	p.M31I		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M31I(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						AAGAACACATGAAAAATAAGA	0.388000													8	35					0.00307968	0.00360664	0.003080	1	0
ZNF804A	91752	broad.mit.edu	37	2	185731213	185731213	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:185731213A>G	ENST00000302277.6	+	2	823	c.229A>G	c.(229-231)Aat>Gat	p.N77D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	77						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CAATCACATTAATTCATATGA	0.358000													8	48					0	0	0.004482	0	0
ZSCAN31	64288	broad.mit.edu	37	6	28294030	28294030	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:28294030G>C	ENST00000414429.1	-	8	2037	c.1134C>G	c.(1132-1134)ccC>ccG	p.P378P	ZSCAN31_ENST00000439158.1_Silent_p.P378P|ZSCAN31_ENST00000344279.6_Silent_p.P378P|ZSCAN31_ENST00000446474.1_Silent_p.P219P|ZSCAN31_ENST00000396838.2_Silent_p.P378P|ZSCAN31_ENST00000481934.1_5'UTR					zinc finger and SCAN domain containing 31																		TGCACTGATAGGGTTTCTCAC	0.468000													10	245					0	0	0.008291	0	0
KIAA0930	23313	broad.mit.edu	37	22	45595905	45595905	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:45595905G>T	ENST00000336156.4	-	8	929	c.864C>A	c.(862-864)ttC>ttA	p.F288L	KIAA0930_ENST00000251993.7_Missense_Mutation_p.F293L|KIAA0930_ENST00000391627.2_Missense_Mutation_p.F254L|KIAA0930_ENST00000443310.3_Missense_Mutation_p.F270L|KIAA0930_ENST00000474515.1_5'UTR	NM_001009880.1	NP_001009880.1	Q6ICG6	K0930_HUMAN	KIAA0930	288							protein binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|urinary_tract(1)	15						GGGGTGTGCTGAAGGAGGTCA	0.612000													7	25					0.000442599	0.000535364	0.006214	1	0
CFH	3075	broad.mit.edu	37	1	196711060	196711060	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:196711060G>A	ENST00000367429.4	+	19	3252	c.3012G>A	c.(3010-3012)aaG>aaA	p.K1004K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1004	Sushi 17.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGGGAGAGAAGAAGGATGTGT	0.368000													4	47					0	0	0.000248	0	0
P2RY14	9934	broad.mit.edu	37	3	150931206	150931206	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:150931206T>A	ENST00000309170.3	-	3	1211	c.899A>T	c.(898-900)cAg>cTg	p.Q300L	MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.Q300L|MED12L_ENST00000474524.1_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	300						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTAAACGGCTGGCATAGAAA	0.358000													27	81					0	0	0.007291	0	0
FAM21C	253725	broad.mit.edu	37	10	46264993	46264993	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:46264993G>T	ENST00000336378.4	+	20	2078	c.1960G>T	c.(1960-1962)Gcc>Tcc	p.A654S	FAM21C_ENST00000540872.1_Missense_Mutation_p.A656S|FAM21C_ENST00000374362.2_Missense_Mutation_p.A656S|FAM21C_ENST00000359860.4_Missense_Mutation_p.A598S|FAM21C_ENST00000537517.1_Missense_Mutation_p.A632S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	656										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAGCCAGGAGGCCAAGGCTGT	0.493000													41	100					1.57019e-19	3.0683e-19	0.007835	1	0
PCDHA11	56138	broad.mit.edu	37	5	140249457	140249457	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140249457A>G	ENST00000398640.2	+	1	769	c.769A>G	c.(769-771)Aaa>Gaa	p.K257E	PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATGCTGCTAAAGAAACTCT	0.428000													6	5					0	0	0.001168	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709201	128709201	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:128709201G>T	ENST00000392665.2	-	2	1082	c.938C>A	c.(937-939)aCa>aAa	p.T313K	KCNJ1_ENST00000324036.3_Missense_Mutation_p.T313K|KCNJ1_ENST00000440599.2_Missense_Mutation_p.T313K|KCNJ1_ENST00000392664.2_Missense_Mutation_p.T332K|KCNJ1_ENST00000392666.1_Missense_Mutation_p.T313K	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	332					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	CCCTTCCTTTGTCTTGGATAC	0.498000													20	32					1.56452e-12	2.71796e-12	0.007413	1	0
VPS11	55823	broad.mit.edu	37	11	118952213	118952213	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:118952213T>C	ENST00000300793.6	+	17	2745	c.2703T>C	c.(2701-2703)ttT>ttC	p.F901F	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	902					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CTGACTACTTTGGCAGAGGTG	0.507000													39	125					0	0	0.002522	0	0
CPED1	79974	broad.mit.edu	37	7	120655759	120655759	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:120655759G>A	ENST00000310396.5	+	3	757	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	CPED1_ENST00000450913.2_Missense_Mutation_p.R97Q|CPED1_ENST00000340646.5_Missense_Mutation_p.R97Q|CPED1_ENST00000495036.1_3'UTR	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		AGCCATGGCCGAAGGGCCATA	0.428000													5	63					0	0	0.000602	0	0
ZNF536	9745	broad.mit.edu	37	19	30936469	30936469	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:30936469G>T	ENST00000355537.3	+	2	2147	c.2000G>T	c.(1999-2001)gGc>gTc	p.G667V		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	667					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)					CTGCACGTGGGCCTGGATGAG	0.697000													14	29					1.36491e-13	2.43964e-13	0.001855	1	0
BPIFA1	51297	broad.mit.edu	37	20	31827694	31827694	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:31827694G>A	ENST00000354297.4	+	4	477	c.406G>A	c.(406-408)Ggc>Agc	p.G136S	BPIFA1_ENST00000375413.4_Missense_Mutation_p.G136S|BPIFA1_ENST00000375422.2_Missense_Mutation_p.G136S	NM_130852.2	NP_570913.1	Q9NP55	PLUNC_HUMAN	BPI fold containing family A, member 1	136					innate immune response	extracellular region	lipid binding										CATCCCTCTCGGCATAAAGCT	0.572000													39	100					0	0	0.006230	0	0
EPRS	2058	broad.mit.edu	37	1	220160553	220160553	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:220160553G>C	ENST00000366923.3	-	20	3238	c.2969C>G	c.(2968-2970)tCt>tGt	p.S990C		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	990	Charged.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTGGTTTTTAGAAGGGTCTTT	0.423000													12	96					0	0	0.000978	0	0
TAOK2	9344	broad.mit.edu	37	16	29997020	29997020	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:29997020C>T	ENST00000308893.4	+	15	2873	c.1830C>T	c.(1828-1830)gcC>gcT	p.A610A	TAOK2_ENST00000416441.2_Silent_p.A437A|TAOK2_ENST00000279394.3_Silent_p.A610A|TAOK2_ENST00000543033.1_Silent_p.A610A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	610					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGGAGAAGGCCGAGTGGCTGC	0.682000													3	13					0	0	0.000248	0	0
ZBED4	9889	broad.mit.edu	37	22	50280622	50280622	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:50280622G>A	ENST00000216268.4	+	2	3789	c.3312G>A	c.(3310-3312)tgG>tgA	p.W1104*		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1104						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TCACCTACTGGAACCTGAAGA	0.567000													7	16					0	0	0.001984	0	0
CCT8	10694	broad.mit.edu	37	21	30441752	30441752	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:30441752C>G	ENST00000286788.4	-	3	429	c.223G>C	c.(223-225)Gaa>Caa	p.E75Q	CCT8_ENST00000540844.1_Intron|CCT8_ENST00000542732.1_Missense_Mutation_p.E56Q|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	75					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						ACTTCTAGTTCTCTTAAAATA	0.284000													5	52					0	0	0.001984	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42854219	42854219	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:42854219G>C	ENST00000455697.1	-	8	2173	c.1888C>G	c.(1888-1890)Cag>Gag	p.Q630E	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.Q630E|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.Q630E|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.Q630E|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.Q630E	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	630					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AACTTGACCTGCTGGGGTCTG	0.478000													6	72					0	0	0.000978	0	0
TAC1	6863	broad.mit.edu	37	7	97361970	97361970	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:97361970C>A	ENST00000319273.5	+	2	343	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	TAC1_ENST00000346867.4_Missense_Mutation_p.Q16K|TAC1_ENST00000350485.4_Missense_Mutation_p.Q16K	NM_003182.2	NP_003173.1	P20366	TKN1_HUMAN	tachykinin, precursor 1	16					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TGTCTCCACTCAGCTGTTTGC	0.488000													32	107					2.85442e-18	5.50668e-18	0.002096	1	0
CD1A	909	broad.mit.edu	37	1	158226655	158226655	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158226655C>G	ENST00000289429.5	+	4	1217	c.684C>G	c.(682-684)ttC>ttG	p.F228L		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	228	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TCTCAGGATTCTACCCAAAGC	0.597000													3	103					0	0	0.004672	0	0
MYO5B	4645	broad.mit.edu	37	18	47511162	47511162	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:47511162C>G	ENST00000285039.7	-	8	1171	c.872G>C	c.(871-873)gGa>gCa	p.G291A		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	291	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGTGTCTCCTCCCTGTGATGT	0.522000													9	30					0	0	0.004482	0	0
ZNF223	7766	broad.mit.edu	37	19	44570336	44570336	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:44570336A>G	ENST00000591793.1	+	7	768	c.685A>G	c.(685-687)Ata>Gta	p.I229V	ZNF223_ENST00000434772.3_Missense_Mutation_p.I119V			Q9UK11	ZN223_HUMAN	zinc finger protein 223	119					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AGACTCTACCATAAAGAGCTC	0.473000													21	48					0	0	0.001523	0	0
TAS2R30	259293	broad.mit.edu	37	12	11286614	11286614	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:11286614C>A	ENST00000539585.1	-	1	629	c.230G>T	c.(229-231)aGt>aTt	p.S77I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						TACTTCTACACTATAAAAAGC	0.423000													14	170					1.5842e-08	2.41892e-08	0.001855	1	0
AGL	178	broad.mit.edu	37	1	100327041	100327041	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:100327041C>T	ENST00000361522.4	+	1	276	c.14C>T	c.(13-15)aCa>aTa	p.T5I	AGL_ENST00000370165.3_Intron|AGL_ENST00000370161.2_Intron|AGL_ENST00000361302.3_Intron|AGL_ENST00000361915.3_Intron|AGL_ENST00000294724.4_Intron|AGL_ENST00000370163.3_Intron	NM_000645.2	NP_000636.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	0					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AGTTTATTAACATGTGCTTTT	0.308000													4	28					0	0	0.000602	0	0
UNC45B	146862	broad.mit.edu	37	17	33501326	33501326	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:33501326G>T	ENST00000268876.5	+	14	1999	c.1902G>T	c.(1900-1902)ctG>ctT	p.L634L	UNC45B_ENST00000394570.2_Silent_p.L632L|UNC45B_ENST00000378449.1_Silent_p.L553L|UNC45B_ENST00000433649.1_Silent_p.L632L|UNC45B_ENST00000591048.1_Silent_p.L553L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	634					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TCTCTGCCCTGGCTTGCATGG	0.567000													33	97					3.11337e-16	5.81676e-16	0.002836	1	0
CTAGE1	64693	broad.mit.edu	37	18	19996602	19996602	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:19996602G>A	ENST00000391403.2	-	1	1276	c.1173C>T	c.(1171-1173)atC>atT	p.I391I		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	391						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGGCATGGCTGATCATTTCGT	0.343000													16	169					0	0	0.004007	0	0
NRIP2	83714	broad.mit.edu	37	12	2936794	2936794	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:2936794G>C	ENST00000337508.4	-	5	790	c.750C>G	c.(748-750)ctC>ctG	p.L250L	ITFG2_ENST00000542548.1_Intron	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	250					proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCCTTACCTTGAGAGAAAGCA	0.507000													5	255					0	0	0.001984	0	0
ZBTB38	253461	broad.mit.edu	37	3	141164114	141164114	+	Missense_Mutation	SNP	G	G	T	rs75545796	by1000genomes	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:141164114G>T	ENST00000514251.1	+	4	3163	c.2884G>T	c.(2884-2886)Gtg>Ttg	p.V962L	ZBTB38_ENST00000321464.5_Missense_Mutation_p.V963L|ZBTB38_ENST00000441582.2_Missense_Mutation_p.V962L			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	962					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GGATTGCGCCGTGGGGAAGGC	0.498000													8	27					3.09899e-07	4.48546e-07	0.004482	1	0
LRRK2	120892	broad.mit.edu	37	12	40677725	40677725	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:40677725A>T	ENST00000298910.7	+	19	2348	c.2290A>T	c.(2290-2292)Agt>Tgt	p.S764C	LRRK2_ENST00000343742.2_Missense_Mutation_p.S764C	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	764					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTTACTGAATAGTGGATCTCG	0.388000													22	59					0	0	0.003330	0	0
MAGI1	9223	broad.mit.edu	37	3	65456114	65456114	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:65456114A>T	ENST00000330909.8	-	5	802	c.803T>A	c.(802-804)tTa>tAa	p.L268*	MAGI1_ENST00000402939.2_Nonsense_Mutation_p.L268*|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.L268*|MAGI1_ENST00000497477.2_Nonsense_Mutation_p.L268*	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	268	Guanylate kinase-like.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CACAGGTGGTAATGCTGTTTC	0.448000													20	51					0	0	0.002299	0	0
PKD1L1	168507	broad.mit.edu	37	7	47866973	47866973	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:47866973C>T	ENST00000289672.2	-	45	6879	c.6829G>A	c.(6829-6831)Gag>Aag	p.E2277K		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2277					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGCGACTCTCTCTCCTCATC	0.662000													13	35					0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92087375	92087375	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:92087375G>A	ENST00000298047.6	+	1	2114	c.2097G>A	c.(2095-2097)aaG>aaA	p.K699K	FAT3_ENST00000541502.1_Silent_p.K699K|FAT3_ENST00000525166.1_Silent_p.K549K|FAT3_ENST00000409404.2_Silent_p.K699K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	699					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TACTCATTAAGGCAAAAGCAA	0.383000										TCGA Ovarian(4;0.039)			41	104					0	0	0.005524	0	0
PNPLA7	375775	broad.mit.edu	37	9	140395241	140395241	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:140395241C>A	ENST00000406427.1	-	16	1995	c.1659G>T	c.(1657-1659)gtG>gtT	p.V553V	PNPLA7_ENST00000371457.1_Silent_p.V134V|PNPLA7_ENST00000277531.4_Silent_p.V528V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	528					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCAGCTGGCCCACCATCTCCC	0.632000													9	22					0.000274275	0.000335034	0.004482	1	0
EPHA6	285220	broad.mit.edu	37	3	97454805	97454805	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:97454805G>T	ENST00000389672.5	+	16	3009	c.2971G>T	c.(2971-2973)Gct>Tct	p.A991S		NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	896	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAGACTTCCAGCTCCCATGGG	0.418000													8	37					3.86212e-05	4.92529e-05	0.008291	1	0
MMP15	4324	broad.mit.edu	37	16	58073844	58073844	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:58073844G>A	ENST00000219271.3	+	4	1291	c.506G>A	c.(505-507)cGc>cAc	p.R169H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	169					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding	p.R169H(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AGGGCCTTCCGCGTGTGGGAG	0.637000													10	20					0	0	0.008291	0	0
RP1L1	94137	broad.mit.edu	37	8	10468763	10468763	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:10468763G>T	ENST00000382483.3	-	4	3068	c.2845C>A	c.(2845-2847)Ccc>Acc	p.P949T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	949					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GACGAGCGGGGCAGAGAGCTG	0.642000													7	43					5.4927e-09	8.54978e-09	0.004482	1	0
OCRL	4952	broad.mit.edu	37	X	128692884	128692884	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:128692884T>C	ENST00000371113.4	+	8	793	c.628T>C	c.(628-630)Ttt>Ctt	p.F210L	OCRL_ENST00000357121.5_Missense_Mutation_p.F210L|OCRL_ENST00000486673.1_3'UTR	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	210					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GCGGAAGCTCTTTGTACCAAA	0.428000													20	46					0	0	0.001882	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951938	130951938	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:130951938C>A	ENST00000312988.7	-	4	577	c.477G>T	c.(475-477)gtG>gtT	p.V159V		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	159					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)					TGCTGTAATCCACTGAGAGCC	0.582000													23	64					7.88262e-20	1.54699e-19	0.003330	1	0
HCN1	348980	broad.mit.edu	37	5	45262343	45262343	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:45262343G>T	ENST00000303230.4	-	8	2410	c.2353C>A	c.(2353-2355)Cca>Aca	p.P785T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	785						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P785T(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCGGAGAGTGGCCTGACTTCC	0.627000													11	72					0.00010058	0.000125564	0.001368	1	0
FAM222B	55731	broad.mit.edu	37	17	27085330	27085330	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:27085330T>A	ENST00000341217.5	-	3	1862	c.1647A>T	c.(1645-1647)acA>acT	p.T549T	FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000452648.3_Silent_p.T549T|FAM222B_ENST00000581407.1_Silent_p.T549T	NM_018182.2	NP_060652.2	Q8WU58	CQ063_HUMAN	family with sequence similarity 222, member B	549																	TTCGACTCTCTGTGGGATCGG	0.567000													11	31					0	0	0.001368	0	0
ATAD2	29028	broad.mit.edu	37	8	124333375	124333375	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:124333375C>T	ENST00000287394.5	-	28	4279	c.4172G>A	c.(4171-4173)tGa>tAa	p.*1391*	ATAD2_ENST00000521903.1_Silent_p.*709*	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGACATCATCATCTGGAACA	0.343000													7	84					0	0	0.004482	0	0
PATE1	160065	broad.mit.edu	37	11	125618581	125618581	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:125618581A>T	ENST00000305738.5	+	5	346	c.334A>T	c.(334-336)Aac>Tac	p.N112Y	PATE1_ENST00000437148.2_Missense_Mutation_p.N100Y	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	112						extracellular region				large_intestine(1)|lung(5)	6						CTATTTGGTGAACTTCAGGTG	0.488000													22	77					0	0	0.003330	0	0
ERP44	23071	broad.mit.edu	37	9	102769949	102769949	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:102769949G>A	ENST00000262455.6	-	9	984	c.785C>T	c.(784-786)cCt>cTt	p.P262L		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	262	Interaction with ITPR1 (By similarity).				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						TATGAGAAAAGGCAGTCCTTC	0.348000													18	59					0	0	0.006122	0	0
FHL5	9457	broad.mit.edu	37	6	97063629	97063629	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:97063629G>T	ENST00000326771.2	+	7	1216	c.836G>T	c.(835-837)gGa>gTa	p.G279V	FHL5_ENST00000541107.1_Missense_Mutation_p.G279V	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	279	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTGGCTCCGGAATGGACACT	0.468000													8	39					1.06961e-07	1.58006e-07	0.003080	1	0
ADAM19	8728	broad.mit.edu	37	5	156926626	156926626	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:156926626C>A	ENST00000257527.4	-	13	1431	c.1353G>T	c.(1351-1353)agG>agT	p.R451S	ADAM19_ENST00000394020.1_Missense_Mutation_p.R453S|ADAM19_ENST00000430702.2_Missense_Mutation_p.R184S|ADAM19_ENST00000517905.1_Missense_Mutation_p.R451S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	451	Disintegrin.				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)			CCGCCCCCGGCCTCAGGGTAC	0.627000													6	15					3.59834e-05	4.62352e-05	0.001168	1	0
COLEC12	81035	broad.mit.edu	37	18	321716	321716	+	Missense_Mutation	SNP	C	C	A	rs141957359		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:321716C>A	ENST00000400256.3	-	9	2362	c.2155G>T	c.(2155-2157)Gat>Tat	p.D719Y		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	719	C-type lectin.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CATTGGAAATCGTTCCACTGC	0.483000													28	163					5.45727e-16	1.00852e-15	0.008361	1	0
ITGA5	3678	broad.mit.edu	37	12	54802689	54802689	+	Silent	SNP	G	G	A	rs147213910		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:54802689G>A	ENST00000293379.4	-	5	894	c.633C>T	c.(631-633)gcC>gcT	p.A211A	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	211					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TGGTGAACTCGGCACTGAAGC	0.577000													4	50					0	0	0.000248	0	0
TTN	7273	broad.mit.edu	37	2	179658174	179658174	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179658174A>T	ENST00000589042.1	-	9	1717	c.1493T>A	c.(1492-1494)gTa>gAa	p.V498E	TTN_ENST00000591111.1_Missense_Mutation_p.V498E|TTN_ENST00000342175.6_Missense_Mutation_p.V498E|TTN_ENST00000460472.2_Missense_Mutation_p.V498E|TTN_ENST00000359218.5_Missense_Mutation_p.V498E|TTN_ENST00000342992.6_Missense_Mutation_p.V498E|TTN_ENST00000360870.5_Missense_Mutation_p.V498E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	498			V -> I.				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)			TGTGGTAATTACTTCTTTGGT	0.413000													10	99					0	0	0.000978	0	0
MSH4	4438	broad.mit.edu	37	1	76345788	76345788	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:76345788G>A	ENST00000263187.3	+	13	1835	c.1731G>A	c.(1729-1731)atG>atA	p.M577I		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	577					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TAATTAAAATGAATGAAAGAT	0.269000								Mismatch excision repair (MMR)					4	49					0	0	0.000248	0	0
PDE3A	5139	broad.mit.edu	37	12	20522936	20522936	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:20522936C>A	ENST00000359062.3	+	1	758	c.718C>A	c.(718-720)Ctg>Atg	p.L240M	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	240					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)	GAGACCTTACCTGGCGTACCT	0.622000													27	38					9.80776e-20	1.92204e-19	0.006320	1	0
NID2	22795	broad.mit.edu	37	14	52534799	52534799	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:52534799G>T	ENST00000216286.5	-	2	310	c.311C>A	c.(310-312)cCg>cAg	p.P104Q	NID2_ENST00000541773.1_Missense_Mutation_p.P51Q	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	104						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GGCGATGGCCGGGAAGTCGGT	0.642000													7	25					1.26484e-09	2.01723e-09	0.003080	1	0
C6orf10	10665	broad.mit.edu	37	6	32323447	32323447	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:32323447C>G	ENST00000375007.4	-	6	385	c.213G>C	c.(211-213)caG>caC	p.Q71H	C6orf10_ENST00000375015.4_Splice_Site|C6orf10_ENST00000442822.2_Splice_Site|C6orf10_ENST00000447241.2_Splice_Site|C6orf10_ENST00000533191.1_Splice_Site|C6orf10_ENST00000527965.1_Splice_Site			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	73						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TTGGATCTCTCTGAAAACATA	0.308000													3	61					0	0	0.000248	0	0
OR8A1	390275	broad.mit.edu	37	11	124440912	124440912	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:124440912C>A	ENST00000284287.3	+	1	1020	c.948C>A	c.(946-948)gcC>gcA	p.A316A		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TAAAGGCTGCCGTGCAGAAAA	0.438000													31	56					7.11191e-15	1.29671e-14	0.002836	1	0
UNC13C	440279	broad.mit.edu	37	15	54685257	54685257	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:54685257G>T	ENST00000545554.1	+	17	4725	c.4725G>T	c.(4723-4725)caG>caT	p.Q1575H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Q1573H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Q1575H			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1575					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)		GTAAGAAACAGGATATTCCTC	0.373000													16	75					5.03518e-11	8.46657e-11	0.007413	1	0
ABCC3	8714	broad.mit.edu	37	17	48734068	48734068	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:48734068G>T	ENST00000285238.8	+	3	308	c.228G>T	c.(226-228)ctG>ctT	p.L76L	ABCC3_ENST00000427699.1_Silent_p.L76L	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	76					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CGCAGGTCCTGGGTGTCCTGC	0.597000													25	83					8.24728e-16	1.52e-15	0.004656	1	0
SNX1	6642	broad.mit.edu	37	15	64426924	64426924	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:64426924A>T	ENST00000261889.5	+	12	1304	c.1283A>T	c.(1282-1284)cAg>cTg	p.Q428L	SNX1_ENST00000559844.1_Missense_Mutation_p.Q428L|SNX1_ENST00000561026.1_Missense_Mutation_p.Q363L|SNX1_ENST00000560829.1_Missense_Mutation_p.Q210L|SNX1_ENST00000353874.4_Intron	NM_001242933.1|NM_003099.4	NP_001229862.1|NP_003090.2	Q13596	SNX1_HUMAN	sorting nexin 1	428	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GCCACACTGCAGAAGAAGCGG	0.627000													9	32					0	0	0.004482	0	0
MTA1	9112	broad.mit.edu	37	14	105924709	105924709	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:105924709G>T	ENST00000331320.7	+	8	867	c.653_splice	c.e8+1	p.R218_splice	MTA1_ENST00000406191.1_Splice_Site_p.R218_splice|MTA1_ENST00000405646.1_Splice_Site_p.R201_splice	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	218	ELM2.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTGGTGGCCCGGTGAGTCCTG	0.632000													6	23					0.00198382	0.00234139	0.001984	1	0
PHF14	9678	broad.mit.edu	37	7	11068443	11068443	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:11068443G>C	ENST00000403050.3	+	7	1905	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q	PHF14_ENST00000445996.2_Missense_Mutation_p.E200Q	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	485							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)		AGCGGCGGAAGAGGTAGGTTT	0.398000													4	54					0	0	0.001168	0	0
HIST1H3E	8353	broad.mit.edu	37	6	26225539	26225539	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:26225539C>A	ENST00000360408.1	+	1	157	c.157C>A	c.(157-159)Cgt>Agt	p.R53S		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	53					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				GCGCGAGATCCGTCGCTACCA	0.627000													11	45					7.03913e-09	1.0907e-08	0.001368	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33572767	33572767	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:33572767G>A	ENST00000321505.4	+	4	2972	c.2792G>A	c.(2791-2793)tGg>tAg	p.W931*	KIAA1549L_ENST00000389726.3_Nonsense_Mutation_p.W937*|KIAA1549L_ENST00000265654.5_Nonsense_Mutation_p.W937*					KIAA1549-like																		GCCTCCCCATGGAATCCCCAG	0.527000													4	62					0	0	0.000248	0	0
ADCY2	108	broad.mit.edu	37	5	7396557	7396557	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:7396557C>A	ENST00000338316.4	+	1	237	c.148C>A	c.(148-150)Ctg>Atg	p.L50M		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	50					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATCGTCTTCCTGCTGCTCAT	0.711000													46	26					1.38658e-30	2.8229e-30	0.003610	1	0
SLIT2	9353	broad.mit.edu	37	4	20525666	20525666	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:20525666A>T	ENST00000504154.1	+	14	1556	c.1304A>T	c.(1303-1305)gAc>gTc	p.D435V	SLIT2_ENST00000273739.5_Missense_Mutation_p.D439V|SLIT2_ENST00000503837.1_Missense_Mutation_p.D439V|SLIT2_ENST00000503823.1_Missense_Mutation_p.D435V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	435	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTATTTGTGACTGCCATCTC	0.483000													31	138					0	0	0.008361	0	0
SLC12A9	56996	broad.mit.edu	37	7	100458871	100458871	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:100458871G>T	ENST00000354161.3	+	10	1455	c.1330G>T	c.(1330-1332)Gcc>Tcc	p.A444S	SLC12A9_ENST00000540482.1_Missense_Mutation_p.A444S|SLC12A9_ENST00000275729.3_Missense_Mutation_p.A355S|SLC12A9_ENST00000428758.1_Missense_Mutation_p.A444S|SLC12A9_ENST00000415287.1_Missense_Mutation_p.A355S	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	444						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GTGGGCCTCGGCCCCCAACTT	0.642000													16	89					1.15088e-07	1.68911e-07	0.004007	1	0
RYR2	6262	broad.mit.edu	37	1	237753237	237753237	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:237753237C>A	ENST00000366574.2	+	30	4060	c.3743C>A	c.(3742-3744)aCc>aAc	p.T1248N	RYR2_ENST00000360064.6_Missense_Mutation_p.T1246N|RYR2_ENST00000542537.1_Missense_Mutation_p.T1232N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1248	4 X approximate repeats.				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)			AGGGATATTACCATGTGGCTG	0.388000													6	33					0.00116845	0.00138989	0.001168	1	0
RPL3	6122	broad.mit.edu	37	22	39709261	39709261	+	Missense_Mutation	SNP	T	T	C	rs150061768		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:39709261T>C	ENST00000216146.4	-	9	1275	c.1102A>G	c.(1102-1104)Att>Gtt	p.I368V	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.I316V	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	368					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					GTGGTGTCAATGAACTTAAGG	0.572000													3	11					0	0	0.004672	0	0
PEX5L	51555	broad.mit.edu	37	3	179605484	179605484	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:179605484C>A	ENST00000467460.1	-	4	617	c.287G>T	c.(286-288)aGg>aTg	p.R96M	PEX5L_ENST00000472994.1_Missense_Mutation_p.R37M|PEX5L_ENST00000468741.1_De_novo_Start_InFrame|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000485199.1_Missense_Mutation_p.R61M|PEX5L_ENST00000263962.8_Missense_Mutation_p.R94M|PEX5L_ENST00000465751.1_Missense_Mutation_p.R72M|PEX5L_ENST00000392649.3_Missense_Mutation_p.R53M|PEX5L_ENST00000464614.1_Missense_Mutation_p.R53M|PEX5L_ENST00000476138.1_Missense_Mutation_p.R53M	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	96					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGTTACTGGCCTTGCTATTGC	0.388000													36	158					5.43694e-19	1.05939e-18	0.005524	1	0
CALU	813	broad.mit.edu	37	7	128398927	128398927	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:128398927G>T	ENST00000542996.2	+	5	1385	c.442G>T	c.(442-444)Gat>Tat	p.D148Y	CALU_ENST00000449187.2_Missense_Mutation_p.D140Y|CALU_ENST00000479257.1_Missense_Mutation_p.D148Y|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000535011.2_Missense_Mutation_p.D140Y|CALU_ENST00000249364.4_Missense_Mutation_p.D140Y|CALU_ENST00000538546.1_5'UTR	NM_001199672.1	NP_001186601.1	O43852	CALU_HUMAN	calumenin	140					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						TTTTCTAGATGATCCAGATCC	0.363000													25	83					9.86323e-18	1.88411e-17	0.003954	1	0
ELAVL4	1996	broad.mit.edu	37	1	50666531	50666531	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:50666531C>A	ENST00000371824.1	+	7	1039	c.782C>A	c.(781-783)cCa>cAa	p.P261Q	ELAVL4_ENST00000357083.4_Missense_Mutation_p.P278Q|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P264Q|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P266Q|ELAVL4_ENST00000371823.4_Missense_Mutation_p.P275Q|ELAVL4_ENST00000371827.1_Missense_Mutation_p.P261Q|ELAVL4_ENST00000371821.1_Missense_Mutation_p.P280Q			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	275					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						AGGTTCTCCCCAATTACCATT	0.537000													13	111					1.99824e-07	2.91392e-07	0.004990	1	0
KIF13A	63971	broad.mit.edu	37	6	17837114	17837114	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:17837114C>G	ENST00000378814.5	-	11	1149	c.1150G>C	c.(1150-1152)Gca>Cca	p.A384P	KIF13A_ENST00000259711.6_Missense_Mutation_p.A384P|KIF13A_ENST00000378816.5_Missense_Mutation_p.A384P|KIF13A_ENST00000378826.2_Missense_Mutation_p.A384P|KIF13A_ENST00000378843.2_Missense_Mutation_p.A384P	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	384					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTACCTCTGCCTGAGAGAGC	0.512000													57	161					0	0	0.003610	0	0
MEAF6	64769	broad.mit.edu	37	1	37979099	37979099	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:37979099T>C	ENST00000373075.2	-	2	147	c.131A>G	c.(130-132)gAg>gGg	p.E44G	MEAF6_ENST00000475828.1_5'UTR|MEAF6_ENST00000448519.2_Missense_Mutation_p.E44G|MEAF6_ENST00000296214.5_Missense_Mutation_p.E44G|MEAF6_ENST00000373074.1_Missense_Mutation_p.E22G|MEAF6_ENST00000373073.4_Missense_Mutation_p.E44G	NM_022756.4	NP_073593.2	Q9HAF1	EAF6_HUMAN	MYST/Esa1-associated factor 6	44					histone H2A acetylation|histone H3-K14 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|NuA4 histone acetyltransferase complex|nucleolus	protein binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)	7						GTAGCTTCCCTCAAAAGCATA	0.418000													32	106					0	0	0.002096	0	0
SH3TC2	79628	broad.mit.edu	37	5	148392151	148392151	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:148392151A>T	ENST00000538184.1	-	9	2729	c.1841T>A	c.(1840-1842)cTg>cAg	p.L614Q	SH3TC2_ENST00000512049.1_Missense_Mutation_p.L1060Q|SH3TC2_ENST00000515425.1_Missense_Mutation_p.L1067Q			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	1067							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTACCTGCAGGCACAGCTC	0.597000													7	34					0	0	0.003080	0	0
CFHR3	10878	broad.mit.edu	37	1	196749016	196749016	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:196749016C>A	ENST00000471440.2	+	3	417	c.343C>A	c.(343-345)Cat>Aat	p.H115N	CFHR3_ENST00000367425.4_Missense_Mutation_p.H115N|CFHR3_ENST00000391985.3_Missense_Mutation_p.H115N					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						AGTTGCCTGCCATCCTGGCTA	0.428000													11	40					0.00829132	0.00954588	0.008291	1	0
DEFB121	245934	broad.mit.edu	37	20	29992817	29992817	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:29992817A>G	ENST00000376314.2	-	2	243	c.130T>C	c.(130-132)Tgc>Cgc	p.C44R	DEFB121_ENST00000376312.3_5'UTR	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	44					defense response to bacterium	extracellular region		p.C44R(1)		large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGTTTTGCATAATATATAG	0.388000													10	46					0	0	0.008291	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94670703	94670703	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:94670703G>C	ENST00000260526.6	-	7	793	c.611C>G	c.(610-612)tCt>tGt	p.S204C	ARHGAP29_ENST00000370217.3_Missense_Mutation_p.S204C	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	204					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		CAGCTCGATAGAGTCAGTGTT	0.338000													4	28					0	0	0.000248	0	0
NDRG3	57446	broad.mit.edu	37	20	35350115	35350115	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:35350115C>A	ENST00000373803.2	-	2	80	c.24G>T	c.(22-24)caG>caT	p.Q8H	NDRG3_ENST00000359675.2_Missense_Mutation_p.Q8H|NDRG3_ENST00000349004.1_Missense_Mutation_p.Q8H|NDRG3_ENST00000373773.3_5'UTR|NDRG3_ENST00000540765.1_5'UTR			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	8					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TCTCTGTGAGCTGAACATCCT	0.343000													15	39					5.01169e-05	6.37342e-05	0.004990	1	0
KIR2DL4	3805	broad.mit.edu	37	19	55316358	55316358	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:55316358T>C	ENST00000396284.2	+	3	181	c.181T>C	c.(181-183)Tac>Cac	p.Y61H	KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000345540.5_Missense_Mutation_p.Y63H|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000357494.4_Missense_Mutation_p.Y63H|KIR2DL4_ENST00000359085.4_Missense_Mutation_p.Y63H|KIR2DL4_ENST00000346587.4_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000541392.1_Intron					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTTCACGCTGTACAAGAAAGA	0.547000													15	41					0	0	0.006122	0	0
OR1E1	8387	broad.mit.edu	37	17	3300867	3300867	+	Missense_Mutation	SNP	C	C	T	rs144219652	by1000genomes	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:3300867C>T	ENST00000322608.2	-	1	837	c.838G>A	c.(838-840)Gtg>Atg	p.V280M		NM_003553.2	NP_003544.2	P30953	OR1E1_HUMAN	olfactory receptor, family 1, subfamily E, member 1	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(2)|lung(5)	10						GGGGTCACCACAGTGTACATC	0.458000													18	58					0	0	0.007413	0	0
ANO4	121601	broad.mit.edu	37	12	101505362	101505362	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:101505362A>T	ENST00000392979.3	+	23	2580	c.2219A>T	c.(2218-2220)gAa>gTa	p.E740V	ANO4_ENST00000392977.3_Missense_Mutation_p.E775V|ANO4_ENST00000550015.1_Missense_Mutation_p.E295V|ANO4_ENST00000299222.9_Missense_Mutation_p.E295V	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	775						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GGAATTCTTGAAGGCATTGGA	0.328000										HNSCC(74;0.22)			18	39					0	0	0.001882	0	0
NAV2	89797	broad.mit.edu	37	11	20119157	20119157	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:20119157T>C	ENST00000396085.1	+	32	6417	c.6056T>C	c.(6055-6057)cTa>cCa	p.L2019P	NAV2_ENST00000360655.4_Missense_Mutation_p.L1952P|NAV2_ENST00000527559.2_Missense_Mutation_p.L2004P|NAV2_ENST00000349880.4_Missense_Mutation_p.L2016P|NAV2_ENST00000311043.8_Missense_Mutation_p.L1080P|NAV2_ENST00000540292.1_Missense_Mutation_p.L2006P|NAV2_ENST00000396087.3_Missense_Mutation_p.L2075P|NAV2_ENST00000533917.1_Missense_Mutation_p.L1080P	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2075						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTGAGTCAGCTAGGGCTGAAT	0.448000													20	55					0	0	0.001216	0	0
C9orf84	158401	broad.mit.edu	37	9	114484859	114484859	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:114484859T>A	ENST00000394779.3	-	11	1896	c.1652A>T	c.(1651-1653)cAg>cTg	p.Q551L	C9orf84_ENST00000318737.4_Missense_Mutation_p.Q590L|C9orf84_ENST00000394777.4_Missense_Mutation_p.Q551L|C9orf84_ENST00000374287.3_Missense_Mutation_p.Q590L	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	590										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGCTTGGCACTGGCTATCTGC	0.388000													8	28					0	0	0.003080	0	0
ZSCAN10	84891	broad.mit.edu	37	16	3142715	3142715	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:3142715G>T	ENST00000252463.2	-	1	146	c.59C>A	c.(58-60)cCg>cAg	p.P20Q	ZSCAN10_ENST00000572548.1_Missense_Mutation_p.P20Q|ZSCAN10_ENST00000538082.2_Silent_p.A27A|ZSCAN10_ENST00000575108.1_Intron	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	20	SCAN box.				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGCAGAGCCGGCCGCAGCCA	0.672000													6	18					0.00198382	0.00234139	0.001984	1	0
BAI3	577	broad.mit.edu	37	6	70049390	70049390	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:70049390G>T	ENST00000370598.1	+	26	4274	c.3453G>T	c.(3451-3453)cgG>cgT	p.R1151R	BAI3_ENST00000546190.1_Silent_p.R115R|BAI3_ENST00000238918.8_Silent_p.R357R	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1151					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)				GCATTCTTCGGAGAGAGGTGA	0.368000													37	116					1.60099e-16	2.99937e-16	0.004878	1	0
MORC1	27136	broad.mit.edu	37	3	108723721	108723721	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:108723721A>T	ENST00000232603.5	-	20	2110	c.2028T>A	c.(2026-2028)gcT>gcA	p.A676A	MORC1_ENST00000483760.1_Silent_p.A655A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	676					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.A676A(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGGTAATATTAGCAATCTGAC	0.353000													51	149					0	0	0.003610	0	0
CNPPD1	27013	broad.mit.edu	37	2	220039790	220039790	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:220039790C>A	ENST00000409789.1	-	5	728	c.301G>T	c.(301-303)Gtg>Ttg	p.V101L	CNPPD1_ENST00000360507.5_Missense_Mutation_p.V101L			Q9BV87	CNPD1_HUMAN	cyclin Pas1/PHO80 domain containing 1	101					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						TCAATGTACACCAGAGCCAGC	0.517000													20	40					1.56452e-12	2.71796e-12	0.007413	1	0
ACVRL1	94	broad.mit.edu	37	12	52306269	52306269	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:52306269G>A	ENST00000550683.1	+	1	154	c.53G>A	c.(52-54)gGc>gAc	p.G18D	ACVRL1_ENST00000419526.2_Missense_Mutation_p.G18D|ACVRL1_ENST00000388922.4_Missense_Mutation_p.G4D	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	4					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	ATGACCTTGGGCTCCCCCAGG	0.587000													8	22					0	0	0.004482	0	0
ASIC4	55515	broad.mit.edu	37	2	220401832	220401832	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:220401832C>G	ENST00000358078.4	+	7	1669	c.1655C>G	c.(1654-1656)tCt>tGt	p.S552C	ASIC4_ENST00000347842.3_Missense_Mutation_p.S533C			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	533						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GCCCTGACCTCTGAAGCCATG	0.627000													4	51					0	0	0.000602	0	0
MAP4K3	8491	broad.mit.edu	37	2	39487871	39487871	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:39487871C>A	ENST00000263881.3	-	29	2508	c.2184G>T	c.(2182-2184)ctG>ctT	p.L728L	MAP4K3_ENST00000437545.1_Silent_p.L644L|MAP4K3_ENST00000341681.5_Silent_p.L707L|MAP4K3_ENST00000536018.1_Silent_p.L281L	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	728	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CAGGAACTACCAGCATTTCAA	0.363000													15	27					2.32078e-09	3.67121e-09	0.003163	1	0
ZSWIM3	140831	broad.mit.edu	37	20	44505942	44505942	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:44505942G>C	ENST00000255152.2	+	2	954	c.745G>C	c.(745-747)Gtg>Ctg	p.V249L	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.V243L	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	249							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				AAGTCGAGTGGTGCACTTTGC	0.542000													20	53					0	0	0.001523	0	0
CDH17	1015	broad.mit.edu	37	8	95183141	95183141	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:95183141T>C	ENST00000027335.3	-	8	980	c.856A>G	c.(856-858)Att>Gtt	p.I286V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.I286V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	286	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTGGTCAATTGAAAATGGG	0.463000													25	104					0	0	0.005443	0	0
DUSP27	92235	broad.mit.edu	37	1	167095909	167095909	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:167095909G>T	ENST00000361200.2	+	6	1707	c.1541G>T	c.(1540-1542)aGg>aTg	p.R514M	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R514M|DUSP27_ENST00000443333.1_Missense_Mutation_p.R514M			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	514					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCAGGGAGCAGGGTGCGGGAG	0.587000													29	66					7.01153e-11	1.16602e-10	0.007291	1	0
SCN2A	6326	broad.mit.edu	37	2	166246119	166246119	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:166246119G>T	ENST00000357398.3	+	27	6093	c.5803G>T	c.(5803-5805)Gac>Tac	p.D1935Y	SCN2A_ENST00000375427.2_Missense_Mutation_p.D1935Y|SCN2A_ENST00000375437.2_Missense_Mutation_p.D1935Y|SCN2A_ENST00000283256.6_Missense_Mutation_p.D1935Y			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1935					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATACAAGAAAGACAAAGGCAA	0.388000													11	65					4.68919e-08	7.04931e-08	0.008291	1	0
ZC3H13	23091	broad.mit.edu	37	13	46549882	46549882	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:46549882C>A	ENST00000242848.4	-	12	2352	c.2004G>T	c.(2002-2004)gtG>gtT	p.V668V	ZC3H13_ENST00000282007.3_Silent_p.V668V			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	668	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCTATCATCCACTCTGTCTA	0.502000													7	20					3.09899e-07	4.48546e-07	0.004482	1	0
MAGEE2	139599	broad.mit.edu	37	X	75003786	75003786	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:75003786A>T	ENST00000373359.2	-	1	1293	c.1101T>A	c.(1099-1101)tcT>tcA	p.S367S		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	367	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCTCAATCAGAGACAACCCAT	0.458000													17	50					0	0	0.004990	0	0
NCR1	9437	broad.mit.edu	37	19	55421391	55421391	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:55421391C>G	ENST00000594765.1	+	5	673	c.648C>G	c.(646-648)aaC>aaG	p.N216K	NCR1_ENST00000447255.1_Missense_Mutation_p.N216K|NCR1_ENST00000291890.4_Missense_Mutation_p.N216K|NCR1_ENST00000357397.5_Missense_Mutation_p.N109K|NCR1_ENST00000338835.5_Missense_Mutation_p.N216K|NCR1_ENST00000350790.5_Missense_Mutation_p.N121K|NCR1_ENST00000598576.1_Missense_Mutation_p.N204K			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	216					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		ACATTGAGAACACCAGCCTTG	0.433000													32	112					0	0	0.002096	0	0
SAMD9	54809	broad.mit.edu	37	7	92734837	92734837	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:92734837C>G	ENST00000379958.2	-	3	843	c.574G>C	c.(574-576)Gat>Cat	p.D192H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	192						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTATCGGATCAATGAGATTG	0.393000													21	87					0	0	0.001523	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48511980	48511980	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:48511980A>G	ENST00000339841.2	+	2	234	c.56A>G	c.(55-57)tAt>tGt	p.Y19C	ELSPBP1_ENST00000597519.1_Missense_Mutation_p.Y19C	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	19					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CTCTATTCCTATGAGTCAAGT	0.453000													8	23					0	0	0.006214	0	0
CSMD3	114788	broad.mit.edu	37	8	113694742	113694742	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:113694742C>A	ENST00000297405.5	-	16	2850	c.2606G>T	c.(2605-2607)gGa>gTa	p.G869V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G869V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G829V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G765V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	869	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTTCTGTTCCCTGGGTTTT	0.373000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	63					5.35267e-07	7.65791e-07	0.007413	1	0
PRKACB	5567	broad.mit.edu	37	1	84668407	84668407	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:84668407A>T	ENST00000370689.2	+	8	948	c.684A>T	c.(682-684)ctA>ctT	p.L228L	PRKACB_ENST00000370685.3_Silent_p.L275L|PRKACB_ENST00000394838.2_Silent_p.L235L|PRKACB_ENST00000370688.3_Silent_p.L228L|PRKACB_ENST00000370680.1_Silent_p.L234L|PRKACB_ENST00000370682.3_Silent_p.L232L|PRKACB_ENST00000394839.2_Silent_p.L198L	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	228	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		TAGGAGTGCTAATCTATGAAA	0.373000													12	71					0	0	0.001855	0	0
LPHN3	23284	broad.mit.edu	37	4	62599255	62599255	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:62599255C>T	ENST00000512091.1	+	7	1925	c.1178C>T	c.(1177-1179)cCt>cTt	p.P393L	LPHN3_ENST00000506746.1_Missense_Mutation_p.P461L|LPHN3_ENST00000506720.1_Missense_Mutation_p.P461L|LPHN3_ENST00000507625.1_Missense_Mutation_p.P461L|LPHN3_ENST00000511324.1_Missense_Mutation_p.P461L|LPHN3_ENST00000514591.1_Missense_Mutation_p.P393L|LPHN3_ENST00000545650.1_Missense_Mutation_p.P393L|LPHN3_ENST00000508946.1_Missense_Mutation_p.P393L|LPHN3_ENST00000506700.1_Missense_Mutation_p.P393L|LPHN3_ENST00000514996.1_Missense_Mutation_p.P393L|LPHN3_ENST00000509896.1_Missense_Mutation_p.P461L|LPHN3_ENST00000507164.1_Missense_Mutation_p.P461L|LPHN3_ENST00000514157.1_Missense_Mutation_p.P393L|LPHN3_ENST00000508693.1_Missense_Mutation_p.P461L|LPHN3_ENST00000504896.1_Missense_Mutation_p.P393L			Q9HAR2	LPHN3_HUMAN	latrophilin 3	393	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATTTTGGACCTCTGGATAGT	0.363000													6	19					0	0	0.001984	0	0
PTPRB	5787	broad.mit.edu	37	12	71029518	71029518	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:71029518A>T	ENST00000334414.6	-	2	428	c.384T>A	c.(382-384)caT>caA	p.H128Q	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Missense_Mutation_p.H127Q|PTPRB_ENST00000550358.1_Missense_Mutation_p.H128Q	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCATCCAGCTATGGAGGTATT	0.443000													12	38					0	0	0.001368	0	0
IGFBP3	3486	broad.mit.edu	37	7	45956825	45956825	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:45956825C>T	ENST00000275521.6	-	2	750	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	IGFBP3_ENST00000465642.1_5'UTR|IGFBP3_ENST00000381086.5_Missense_Mutation_p.R109Q|IGFBP3_ENST00000381083.4_Missense_Mutation_p.R212Q	NM_000598.4|NM_001013398.1	NP_000589.2|NP_001013416.1	P17936	IBP3_HUMAN	insulin-like growth factor binding protein 3	206	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity	p.R206L(1)		large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TTCTGTCTCCCGCTTGGACTC	0.493000											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	97					0	0	0.001368	0	0
RPS6KA3	6197	broad.mit.edu	37	X	20212340	20212340	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:20212340C>A	ENST00000379565.3	-	6	660	c.453G>T	c.(451-453)agG>agT	p.R151S	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R123S|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R122S|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R123S	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	151	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						AATCTCCTCCCCTGAGAAAAT	0.299000													14	24					3.41278e-10	5.55342e-10	0.004990	1	0
SRGAP3	9901	broad.mit.edu	37	3	9055201	9055201	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:9055201G>T	ENST00000383836.3	-	17	2365	c.1938C>A	c.(1936-1938)gaC>gaA	p.D646E	SRGAP3_ENST00000360413.3_Missense_Mutation_p.D622E	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	646	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCATGTTCTCGTCGCTATACT	0.542000			T	RAF1	pilocytic astrocytoma								11	32					0.000978159	0.00116864	0.000978	1	0
FER1L6	654463	broad.mit.edu	37	8	125074120	125074120	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:125074120C>A	ENST00000522917.1	+	25	3381	c.3175C>A	c.(3175-3177)Ccg>Acg	p.P1059T	FER1L6_ENST00000399018.1_Missense_Mutation_p.P1059T|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1059	C2 4.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCTTCTGCACCCGCCACTGAG	0.547000													17	69					1.02788e-11	1.76098e-11	0.004990	1	0
CMTM5	116173	broad.mit.edu	37	14	23847665	23847665	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:23847665C>T	ENST00000359320.3	+	2	678	c.234C>T	c.(232-234)gcC>gcT	p.A78A	CMTM5_ENST00000339180.4_Silent_p.A78A|CMTM5_ENST00000397227.3_Intron|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000382809.2_Silent_p.A78A|CMTM5_ENST00000555731.1_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	78	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		TCCTCTATGCCACCCAGTACT	0.562000													17	95					0	0	0.007413	0	0
ZNF502	91392	broad.mit.edu	37	3	44763714	44763714	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:44763714G>T	ENST00000296091.4	+	4	1661	c.1405G>T	c.(1405-1407)Ggg>Tgg	p.G469W	ZNF502_ENST00000449836.1_Missense_Mutation_p.G469W|ZNF502_ENST00000436624.2_Missense_Mutation_p.G469W	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	469					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		TAAAGAATGTGGGAAAGCCTT	0.403000													15	20					1.49906e-05	1.97458e-05	0.002450	1	0
TARS	6897	broad.mit.edu	37	5	33453497	33453497	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33453497G>C	ENST00000265112.3	+	4	744	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	TARS_ENST00000502553.1_Missense_Mutation_p.E145Q|TARS_ENST00000455217.2_Missense_Mutation_p.E178Q|TARS_ENST00000414361.2_Intron|TARS_ENST00000541634.1_Missense_Mutation_p.E41Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	145					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TCTCAAGTTTGAGGATGAGGA	0.453000													12	125					0	0	0.001368	0	0
ESRP1	54845	broad.mit.edu	37	8	95690472	95690472	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:95690472G>C	ENST00000433389.2	+	13	1883	c.1693G>C	c.(1693-1695)Gtt>Ctt	p.V565L	ESRP1_ENST00000454170.2_Missense_Mutation_p.V565L|ESRP1_ENST00000358397.5_Missense_Mutation_p.V561L|ESRP1_ENST00000423620.2_Missense_Mutation_p.V561L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	565					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCCTGCTGCAGTTATTCCTAC	0.498000													21	40					0	0	0.002299	0	0
PLG	5340	broad.mit.edu	37	6	161160215	161160215	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:161160215G>T	ENST00000308192.9	+	16	2056	c.1993G>T	c.(1993-1995)Gat>Tat	p.D665Y		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	665	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.D665H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CACACGAAAAGATATTGCCTT	0.478000													21	78					2.52088e-20	4.96879e-20	0.002780	1	0
KMT2C	58508	broad.mit.edu	37	7	151871221	151871221	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:151871221C>G	ENST00000355193.2	-	39	9587	c.9369G>C	c.(9367-9369)atG>atC	p.M3123I	KMT2C_ENST00000262189.6_Missense_Mutation_p.M3123I					lysine (K)-specific methyltransferase 2C																		CCTACCTGCTCATCACCATTG	0.393000													3	74					0	0	0.004672	0	0
PRUNE2	158471	broad.mit.edu	37	9	79318740	79318740	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:79318740T>A	ENST00000428286.1	-	9	7912	c.6712A>T	c.(6712-6714)Aca>Tca	p.T2238S	PRUNE2_ENST00000376718.3_Missense_Mutation_p.T2597S			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2597					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGCTGACATGTGTCTGGGAAG	0.428000													21	81					0	0	0.001882	0	0
BCAS1	8537	broad.mit.edu	37	20	52645173	52645173	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:52645173C>A	ENST00000395961.3	-	4	647	c.481G>T	c.(481-483)Gac>Tac	p.D161Y	BCAS1_ENST00000371435.2_Missense_Mutation_p.D161Y|BCAS1_ENST00000411563.1_Missense_Mutation_p.D64Y|BCAS1_ENST00000371440.3_Missense_Mutation_p.D161Y	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	161						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			AGGACCTTGTCTTGGGCCGGG	0.622000													8	57					1.12685e-05	1.50615e-05	0.004482	1	0
AKR1B1	231	broad.mit.edu	37	7	134136493	134136493	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:134136493G>T	ENST00000285930.4	-	2	158	c.79C>A	c.(79-81)Cag>Aag	p.Q27K	AKR1B1_ENST00000489022.1_5'UTR	NM_001628.2	NP_001619.1	P15121	ALDR_HUMAN	aldo-keto reductase family 1, member B1 (aldose reductase)	27					C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress	cytosol|extracellular space|nucleus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2)	14					NADH(DB00157)|Sulindac(DB00605)	TCAGTCACCTGCCCTGGAGGG	0.597000													5	21					0.000602214	0.000722021	0.000602	1	0
CACNA1F	778	broad.mit.edu	37	X	49070315	49070315	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:49070315C>A	ENST00000376265.2	-	31	3850	c.3789G>T	c.(3787-3789)gtG>gtT	p.V1263V	CACNA1F_ENST00000376251.1_Silent_p.V1198V|CACNA1F_ENST00000323022.5_Silent_p.V1252V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1263					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CTATGCTGCCCACCACAATAA	0.512000													11	28					1.58986e-06	2.23698e-06	0.008291	1	0
SEMA5A	9037	broad.mit.edu	37	5	9063218	9063218	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:9063218C>A	ENST00000382496.5	-	18	2965		c.e18-1			NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A						cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CCAGAAAGCCCTGCCAAGGAA	0.522000													5	22					0.000602214	0.000722021	0.000602	1	0
OR4N2	390429	broad.mit.edu	37	14	20295688	20295688	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:20295688C>A	ENST00000568211.1	+	1	81	c.81C>A	c.(79-81)gtC>gtA	p.V27V	OR4N2_ENST00000315947.1_Silent_p.V27V			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCTCCTGGTCTTTGTGCTAG	0.438000													15	166					4.7546e-09	7.45198e-09	0.004007	1	0
TRAF3IP1	26146	broad.mit.edu	37	2	239237914	239237914	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:239237914G>C	ENST00000373327.4	+	5	1068	c.846G>C	c.(844-846)gtG>gtC	p.V282V	TRAF3IP1_ENST00000391993.3_Silent_p.V282V|TRAF3IP1_ENST00000391994.2_Silent_p.V282V	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	282	Abolishes microtubules-binding when missing.|DISC1-interaction domain.					cytoplasm|cytoskeleton	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		gacggagagtgaaaaacgggg	0.547000													4	49					0	0	0.000602	0	0
FZD10	11211	broad.mit.edu	37	12	130648759	130648759	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:130648759G>C	ENST00000539839.1	+	1	1756	c.1174G>C	c.(1174-1176)Gag>Cag	p.E392Q	FZD10_ENST00000229030.4_Silent_p.R424R	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TCCACATCCGGAGGGTGATGA	0.622000													12	47					0	0	0.000978	0	0
SAP130	79595	broad.mit.edu	37	2	128707786	128707786	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:128707786C>G	ENST00000357702.5	-	17	2828	c.2697G>C	c.(2695-2697)aaG>aaC	p.K899N	SAP130_ENST00000259234.6_Missense_Mutation_p.K872N|SAP130_ENST00000259235.3_Missense_Mutation_p.K864N	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	864	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		CCAGAAGACTCTTGGCAGTGG	0.468000													11	163					0	0	0.001368	0	0
GPR128	84873	broad.mit.edu	37	3	100374023	100374023	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:100374023G>T	ENST00000273352.3	+	12	1992	c.1724G>T	c.(1723-1725)tGg>tTg	p.W575L	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.W280L	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	575					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TTAATTGGATGGGGTAAGTGT	0.408000													15	61					3.35478e-16	6.25062e-16	0.003163	1	0
LRRC49	54839	broad.mit.edu	37	15	71329670	71329670	+	Splice_Site	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:71329670A>G	ENST00000260382.5	+	15	2116	c.1857_splice	c.e15+1	p.E619_splice	LRRC49_ENST00000544974.2_Splice_Site_p.E609_splice|LRRC49_ENST00000560369.1_Splice_Site_p.E624_splice|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560158.2_Splice_Site_p.E307_splice|LRRC49_ENST00000560691.1_Splice_Site_p.E325_splice|LRRC49_ENST00000443425.2_Splice_Site_p.E575_splice	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	619						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GAAAAGCTAGAGGTAAAACTA	0.333000													24	91					0	0	0.003954	0	0
ABHD16A	7920	broad.mit.edu	37	6	31655057	31655057	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:31655057G>A	ENST00000375842.4	-	20	1938	c.952C>T	c.(952-954)Cac>Tac	p.H318Y	ABHD16A_ENST00000440843.2_Missense_Mutation_p.H504Y|ABHD16A_ENST00000395952.3_Missense_Mutation_p.H537Y|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR			O95870	ABHGA_HUMAN	abhydrolase domain containing 16A	537						integral to membrane	hydrolase activity|protein binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10						TCAAAGTTGTGCAGATGCTTC	0.602000													6	22					0	0	0.001984	0	0
HERC2P3	283755	broad.mit.edu	37	15	20658886	20658886	+	RNA	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:20658886C>T	ENST00000428453.1	-	0	1980																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATATCGATTCCCTCAGGAATA	0.363000													7	106					0	0	0.001984	0	0
OR51I1	390063	broad.mit.edu	37	11	5462541	5462541	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5462541G>T	ENST00000380211.1	-	1	203	c.204C>A	c.(202-204)ctC>ctA	p.L68L	HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTGAGAGCGAGCATAGAGA	0.468000													11	53					1.58986e-06	2.23698e-06	0.008291	1	0
LRRC31	79782	broad.mit.edu	37	3	169587549	169587549	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:169587549G>C	ENST00000316428.5	-	1	104	c.47C>G	c.(46-48)cCc>cGc	p.P16R	LRRC31_ENST00000523069.1_Missense_Mutation_p.P16R|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Missense_Mutation_p.P16R	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	16										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			TGAAGTCTGGGGCTTAGTTTC	0.443000													9	69					0	0	0.006214	0	0
POFUT2	23275	broad.mit.edu	37	21	46687515	46687515	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:46687515C>G	ENST00000331343.7	-	8	1152	c.1126G>C	c.(1126-1128)Gca>Cca	p.A376P	POFUT2_ENST00000349485.5_Missense_Mutation_p.A376P|POFUT2_ENST00000471540.1_5'UTR	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	376					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		CTGGCGTGTGCGCAGATCCAC	0.572000													16	69					0	0	0.004007	0	0
NALCN	259232	broad.mit.edu	37	13	101755661	101755661	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:101755661A>T	ENST00000251127.6	-	26	3000	c.2919T>A	c.(2917-2919)ccT>ccA	p.P973P		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	973						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACATTTTGAGGCATCCAAC	0.443000													9	43					0	0	0.000978	0	0
OLFM4	10562	broad.mit.edu	37	13	53617354	53617354	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:53617354T>A	ENST00000219022.2	+	4	763	c.685T>A	c.(685-687)Tct>Act	p.S229T		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	229					cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GTGTGAGGCCTCTAAAGATCA	0.493000													22	59					0	0	0.001882	0	0
COPA	1314	broad.mit.edu	37	1	160265889	160265889	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:160265889C>G	ENST00000241704.7	-	22	2543	c.2314G>C	c.(2314-2316)Gag>Cag	p.E772Q	COPA_ENST00000368069.3_Missense_Mutation_p.E781Q	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	772					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTTAGGCTCTCAGCTTCTTCA	0.408000													3	92					0	0	0.000602	0	0
PBRM1	55193	broad.mit.edu	37	3	52649423	52649423	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:52649423T>C	ENST00000356770.4	-	14	1774	c.1772A>G	c.(1771-1773)aAa>aGa	p.K591R	PBRM1_ENST00000409057.1_Missense_Mutation_p.K623R|PBRM1_ENST00000337303.4_Missense_Mutation_p.K623R|PBRM1_ENST00000296302.7_Missense_Mutation_p.K623R|PBRM1_ENST00000409114.3_Missense_Mutation_p.K638R|PBRM1_ENST00000410007.1_Missense_Mutation_p.K623R|PBRM1_ENST00000394830.3_Missense_Mutation_p.K623R|PBRM1_ENST00000409767.1_Missense_Mutation_p.K638R			Q86U86	PB1_HUMAN	polybromo 1	623	Bromo 4.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GCCCAGCTCTTTCCTTTTCTC	0.373000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								16	46					0	0	0.006122	0	0
IGHJ6	28475	broad.mit.edu	37	14	106329427	106329427	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:106329427G>T	ENST00000390560.2	-	0	41																											CGGTGACCGTGGTCCCTTTGC	0.542000													5	19					1.76689e-08	2.68584e-08	0.006214	1	0
PRPF18	8559	broad.mit.edu	37	10	13672285	13672285	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:13672285G>A	ENST00000378572.3	+	10	1134	c.974G>A	c.(973-975)tGc>tAc	p.C325Y	RP11-295P9.3_ENST00000596044.1_Missense_Mutation_p.C1Y	NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	325					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						ATGACCATTTGCCAGAAACAC	0.378000													12	68					0	0	0.003163	0	0
LPHN2	23266	broad.mit.edu	37	1	82450396	82450396	+	Splice_Site	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:82450396G>C	ENST00000370728.1	+	22	4044		c.e22+1		LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370727.1_Splice_Site|LPHN2_ENST00000335786.5_Splice_Site|LPHN2_ENST00000370721.1_Splice_Site|LPHN2_ENST00000370717.2_Splice_Site|LPHN2_ENST00000319517.6_Splice_Site|LPHN2_ENST00000370723.1_Splice_Site|LPHN2_ENST00000370725.1_Splice_Site|LPHN2_ENST00000370715.1_Splice_Site|LPHN2_ENST00000271029.4_Splice_Site|LPHN2_ENST00000359929.3_Splice_Site|LPHN2_ENST00000370730.1_Splice_Site|LPHN2_ENST00000394879.1_Splice_Site|LPHN2_ENST00000370713.1_Splice_Site			O95490	LPHN2_HUMAN	latrophilin 2						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGGCACACAGGTAACAAAGAG	0.428000													6	52					0	0	0.001168	0	0
ADCY8	114	broad.mit.edu	37	8	131964203	131964203	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:131964203C>A	ENST00000286355.5	-	3	3244	c.1152G>T	c.(1150-1152)ctG>ctT	p.L384L	ADCY8_ENST00000377928.3_Silent_p.L384L	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	384					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TGATCATTTCCAGGACAACAA	0.532000										HNSCC(32;0.087)			17	65					1.5739e-10	2.59836e-10	0.004007	1	0
HPSE	10855	broad.mit.edu	37	4	84227453	84227453	+	Missense_Mutation	SNP	C	C	A	rs138882001	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:84227453C>A	ENST00000405413.2	-	10	1245	c.1109G>T	c.(1108-1110)gGc>gTc	p.G370V	HPSE_ENST00000311412.5_Missense_Mutation_p.G370V|HPSE_ENST00000512196.1_Intron|HPSE_ENST00000513463.1_Missense_Mutation_p.G312V	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	370					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GGCTGACAGGCCCAATTTATC	0.423000													15	52					2.23348e-06	3.10409e-06	0.004007	1	0
MRE11A	4361	broad.mit.edu	37	11	94212876	94212876	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:94212876C>A	ENST00000323929.3	-	5	588	c.366G>T	c.(364-366)gtG>gtT	p.V122V	MRE11A_ENST00000323977.3_Silent_p.V122V|MRE11A_ENST00000393241.4_Silent_p.V122V|MRE11A_ENST00000540013.1_Silent_p.V122V|MRE11A_ENST00000407439.3_Silent_p.V125V	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	122					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				GAATACTAAACACTGGAATTG	0.348000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				15	44					2.94398e-08	4.44535e-08	0.007413	1	0
SEPT1	1731	broad.mit.edu	37	16	30389945	30389945	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:30389945C>G	ENST00000321367.3	-	11	1189	c.1144G>C	c.(1144-1146)Gag>Cag	p.E382Q	SEPT1_ENST00000605106.1_Missense_Mutation_p.E340Q|SEPT1_ENST00000571393.1_Missense_Mutation_p.E335Q	NM_052838.4	NP_443070.5	Q8WYJ6	SEPT1_HUMAN	septin 1	335					cell cycle|cell division	microtubule organizing center|septin complex	GTP binding|protein binding			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCGTCTTTCTCGCGGATCAGC	0.657000													4	17					0	0	0.000602	0	0
PCLO	27445	broad.mit.edu	37	7	82585859	82585859	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:82585859C>G	ENST00000423517.2	-	5	4747	c.4410G>C	c.(4408-4410)gaG>gaC	p.E1470D	PCLO_ENST00000333891.8_Missense_Mutation_p.E1470D	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1401					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTTGACTCTCTTTGATCT	0.368000													11	100					0	0	0.001368	0	0
ACSBG1	23205	broad.mit.edu	37	15	78486874	78486874	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:78486874G>T	ENST00000258873.4	-	3	632	c.427C>A	c.(427-429)Cgc>Agc	p.R143S	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	143					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GCGGCTCTGCGGGCGAGCAGG	0.622000													7	32					0.00198382	0.00234139	0.001984	1	0
TPO	7173	broad.mit.edu	37	2	1418272	1418272	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:1418272G>T	ENST00000345913.4	+	2	183	c.92G>T	c.(91-93)tGg>tTg	p.W31L	TPO_ENST00000337415.3_Missense_Mutation_p.W31L|TPO_ENST00000382201.3_Missense_Mutation_p.W31L|TPO_ENST00000539820.1_Missense_Mutation_p.W31L|TPO_ENST00000382198.1_Missense_Mutation_p.W31L|TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.W31L|TPO_ENST00000346956.3_Missense_Mutation_p.W31L|TPO_ENST00000349624.3_Missense_Mutation_p.W31L|TPO_ENST00000382269.3_Missense_Mutation_p.W31L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	31					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GAACTCCTTTGGGGTAAGTAG	0.448000													14	24					1.3612e-06	1.92719e-06	0.003163	1	0
FAM194A	131831	broad.mit.edu	37	3	150384672	150384672	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:150384672G>T	ENST00000295910.6	-	13	1682	c.1630C>A	c.(1630-1632)Cgt>Agt	p.R544S	FAM194A_ENST00000491361.1_Missense_Mutation_p.R398S	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	544								p.R544S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCAATATAACGGTTCAAAGCC	0.413000													23	64					5.35356e-11	8.94668e-11	0.002780	1	0
DUXA	503835	broad.mit.edu	37	19	57666724	57666724	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:57666724C>T	ENST00000554048.2	-	5	454	c.455G>A	c.(454-456)cGa>cAa	p.R152Q		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TCTAGATCTTCGATTTTGGAA	0.378000													13	39					0	0	0.003163	0	0
ZNF823	55552	broad.mit.edu	37	19	11832562	11832562	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:11832562C>A	ENST00000341191.6	-	4	1940	c.1787G>T	c.(1786-1788)cGt>cTt	p.R596L	ZNF823_ENST00000545749.1_Missense_Mutation_p.R414L	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	596					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATGCAAGGAACGGAGAGAACT	0.398000										HNSCC(68;0.2)			19	51					1.15919e-05	1.54634e-05	0.001216	1	0
CAPN11	11131	broad.mit.edu	37	6	44144372	44144372	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:44144372G>T	ENST00000542245.1	+	10	1094	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N	CAPN11_ENST00000398776.1_Missense_Mutation_p.K352N			Q9UMQ6	CAN11_HUMAN	calpain 11	352	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGCTGCACAAGACGGAGGACG	0.627000													11	45					3.07112e-06	4.22939e-06	0.000978	1	0
AHNAK2	113146	broad.mit.edu	37	14	105409642	105409642	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:105409642C>T	ENST00000333244.5	-	7	12265	c.12146G>A	c.(12145-12147)gGg>gAg	p.G4049E	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4049						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)			GGGCAGGTGCCCTTTGAGGCT	0.627000													5	197					0	0	0.000602	0	0
PRSS1	5644	broad.mit.edu	37	7	142459706	142459706	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:142459706C>G	ENST00000486171.1	+	4	341	c.324C>G	c.(322-324)atC>atG	p.I108M	PRSS1_ENST00000311737.7_Missense_Mutation_p.I94M			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	94	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCAAGATCATCCGCCACCCCC	0.542000													32	110					0	0	0.003271	0	0
NLRP3	114548	broad.mit.edu	37	1	247587984	247587984	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:247587984G>T	ENST00000366497.2	+	4	2019	c.1239G>T	c.(1237-1239)ctG>ctT	p.L413L	NLRP3_ENST00000391827.2_Silent_p.L413L|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.L413L|NLRP3_ENST00000391828.3_Silent_p.L413L|NLRP3_ENST00000336119.3_Silent_p.L413L|NLRP3_ENST00000348069.2_Silent_p.L413L	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	413	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCATCCCCCTGGTCTGCTGGA	0.547000													10	37					1.76689e-08	2.68584e-08	0.006214	1	0
RYR2	6262	broad.mit.edu	37	1	237540734	237540734	+	Splice_Site	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:237540734T>A	ENST00000366574.2	+	8	892	c.576_splice	c.e8+1	p.L192_splice	RYR2_ENST00000360064.6_Splice_Site_p.L190_splice|RYR2_ENST00000542537.1_Splice_Site_p.L176_splice	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	192	MIR 2.				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)			GAAAGGTACTTGGTAAGTGTG	0.383000													5	24					0	0	0.001168	0	0
FBN2	2201	broad.mit.edu	37	5	127611777	127611777	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:127611777G>A	ENST00000508053.1	-	65	8521	c.7547C>T	c.(7546-7548)tCa>tTa	p.S2516L	FBN2_ENST00000262464.4_Missense_Mutation_p.S2516L			P35556	FBN2_HUMAN	fibrillin 2	2516	EGF-like 42; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CCTCGGACATGAACACTGATA	0.448000													7	50					0	0	0.001984	0	0
BNIP3	664	broad.mit.edu	37	10	133786581	133786581	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:133786581G>C	ENST00000540159.1	-	3	355	c.239C>G	c.(238-240)tCt>tGt	p.S80C	BNIP3_ENST00000368636.4_Missense_Mutation_p.S80C			Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	80					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATCTGTTTCAGAAGCTCTGTT	0.423000													6	171					0	0	0.001984	0	0
COL6A3	1293	broad.mit.edu	37	2	238305434	238305434	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:238305434T>A	ENST00000295550.4	-	2	479	c.27A>T	c.(25-27)ttA>ttT	p.L9F	COL6A3_ENST00000353578.4_Missense_Mutation_p.L9F|COL6A3_ENST00000346358.4_Missense_Mutation_p.L9F|COL6A3_ENST00000347401.3_Missense_Mutation_p.L9F|COL6A3_ENST00000392004.3_Missense_Mutation_p.L9F|COL6A3_ENST00000392003.2_Missense_Mutation_p.L9F|COL6A3_ENST00000472056.1_Missense_Mutation_p.L9F|COL6A3_ENST00000409809.1_Missense_Mutation_p.L9F	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	9					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGACGGCCACTAAGGGCAAGT	0.438000													19	46					0	0	0.007413	0	0
TUB	7275	broad.mit.edu	37	11	8123070	8123070	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:8123070G>T	ENST00000305253.4	+	13	1831	c.1590G>T	c.(1588-1590)gaG>gaT	p.E530D	TUB_ENST00000299506.2_Missense_Mutation_p.E475D|TUB_ENST00000534099.1_Missense_Mutation_p.E481D	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	475					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGGTAGCAGAGGATGTGTTCA	0.572000													24	90					4.72057e-08	7.08867e-08	0.003954	1	0
MICAL3	57553	broad.mit.edu	37	22	18304813	18304813	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:18304813G>A	ENST00000441493.2	-	24	3783	c.3431C>T	c.(3430-3432)cCg>cTg	p.P1144L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1144	Pro-rich.					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)		TTGGTGCTTCGGTGAGGCGGG	0.582000													11	85					0	0	0.002450	0	0
CLTCL1	8218	broad.mit.edu	37	22	19175534	19175534	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:19175534C>G	ENST00000263200.10	-	28	4465	c.4393G>C	c.(4393-4395)Gag>Cag	p.E1465Q	CLTCL1_ENST00000442042.2_Intron|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1465Q|CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1465Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1465	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTGAGTGCCTCATTCACACTC	0.597000			T	?	ALCL								9	152					0	0	0.006214	0	0
ITGB8	3696	broad.mit.edu	37	7	20441723	20441723	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:20441723C>T	ENST00000222573.3	+	10	2345	c.1661C>T	c.(1660-1662)cCa>cTa	p.P554L	ITGB8_ENST00000537992.1_Missense_Mutation_p.P419L	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	554	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TTTTCTTGTCCATATCACCAT	0.358000													8	74					0	0	0.006214	0	0
ORAI2	80228	broad.mit.edu	37	7	102079459	102079459	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:102079459C>G	ENST00000356387.2	+	3	291	c.56C>G	c.(55-57)cCc>cGc	p.P19R	ORAI2_ENST00000473939.1_Missense_Mutation_p.P19R|ORAI2_ENST00000488996.1_Intron|ORAI2_ENST00000403646.3_Missense_Mutation_p.P19R|ORAI2_ENST00000478730.1_Missense_Mutation_p.P19R	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	19						integral to membrane	protein binding	p.P19L(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						TGCCCTGAGCCCGGCCATAAG	0.617000													22	77					0	0	0.004656	0	0
ITGB6	3694	broad.mit.edu	37	2	160964216	160964216	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:160964216C>G	ENST00000283249.2	-	14	2479	c.2242G>C	c.(2242-2244)Gaa>Caa	p.E748Q	ITGB6_ENST00000409872.1_Missense_Mutation_p.E748Q|ITGB6_ENST00000428609.2_Missense_Mutation_p.E706Q|ITGB6_ENST00000409967.2_Missense_Mutation_p.E641Q			P18564	ITB6_HUMAN	integrin, beta 6	748	Interaction with HAX1.				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						TTTGATCGTTCTGCTTCAAAT	0.478000													7	118					0	0	0.003080	0	0
LIPH	200879	broad.mit.edu	37	3	185252583	185252583	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:185252583C>A	ENST00000296252.4	-	2	528	c.387G>T	c.(385-387)atG>atT	p.M129I	LIPH_ENST00000424591.2_Missense_Mutation_p.M129I	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	129					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CCTTCAAGACCATGGCTACTT	0.393000													20	41					2.94398e-08	4.44535e-08	0.007413	1	0
XIRP2	129446	broad.mit.edu	37	2	168103880	168103880	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:168103880G>A	ENST00000409195.1	+	9	6067	c.5978G>A	c.(5977-5979)gGa>gAa	p.G1993E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.G1771E|XIRP2_ENST00000295237.9_Missense_Mutation_p.G1993E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1818					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						TGGCAAGGGGGAGCAGATACT	0.458000													12	30					0	0	0.001855	0	0
COL25A1	84570	broad.mit.edu	37	4	109969332	109969332	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:109969332C>A	ENST00000399132.1	-	5	943		c.e5-1		COL25A1_ENST00000399127.1_Splice_Site|COL25A1_ENST00000399126.1_Splice_Site	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1							collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		ACAGGAGGACCTATGGGGGGA	0.363000													33	56					4.11147e-13	7.30095e-13	0.003755	1	0
TTF1	7270	broad.mit.edu	37	9	135277138	135277138	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:135277138G>A	ENST00000334270.2	-	2	1110	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	357					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ATCCTTCAGGGTATGCACTCT	0.458000													8	105					0	0	0.003080	0	0
STRIP1	85369	broad.mit.edu	37	1	110584481	110584481	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:110584481T>A	ENST00000369795.3	+	8	905	c.883T>A	c.(883-885)Ttg>Atg	p.L295M	STRIP1_ENST00000369796.1_Missense_Mutation_p.L200M	NM_033088.2	NP_149079.2			striatin interacting protein 1																		GAAGACAGTATTGGTGAGCAC	0.463000													15	99					0	0	0.004007	0	0
GRM5	2915	broad.mit.edu	37	11	88780897	88780897	+	Silent	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:88780897A>C	ENST00000418177.2	-	2	511	c.144T>G	c.(142-144)acT>acG	p.T48T	GRM5_ENST00000305447.4_Silent_p.T48T|GRM5_ENST00000455756.2_Silent_p.T48T|GRM5_ENST00000305432.5_Silent_p.T48T|GRM5_ENST00000393297.1_Silent_p.T48T|GRM5_ENST00000393294.3_Silent_p.T48T			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	48					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CTTTGTCCACAGTAGGCTGGT	0.527000													15	39					0	0	0.006122	0	0
VIPR2	7434	broad.mit.edu	37	7	158835763	158835763	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:158835763G>T	ENST00000262178.2	-	6	745	c.560C>A	c.(559-561)tCt>tAt	p.S187Y	VIPR2_ENST00000402066.1_Missense_Mutation_p.S328Y|VIPR2_ENST00000377633.3_Missense_Mutation_p.S171Y	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	187					cell-cell signaling	integral to plasma membrane		p.S187Y(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CAACGTGCCAGAGCTGGAGTA	0.557000													6	31					1.26484e-09	2.01723e-09	0.003080	1	0
SNHG14	104472715	broad.mit.edu	37	15	25462490	25462490	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:25462490G>T	ENST00000424208.1	+	0	2869					NR_003305.1																						CTGTGCTGTGGTGAGCACATC	0.637000													7	18					0.00307968	0.00360664	0.003080	1	0
CSMD2	114784	broad.mit.edu	37	1	34276415	34276415	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:34276415G>T	ENST00000373381.4	-	10	1551	c.1375C>A	c.(1375-1377)Ccc>Acc	p.P459T	CSMD2_ENST00000338325.1_Missense_Mutation_p.P16T	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	419	CUB 3.					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)				GGGAAATTGGGGGAGGTGATG	0.537000													21	89					2.27731e-05	2.97097e-05	0.001882	1	0
LILRB1	10859	broad.mit.edu	37	19	55085572	55085572	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:55085572C>A	ENST00000396321.2	+	2	64	c.64C>A	c.(64-66)Cag>Aag	p.Q22K	LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q22K|LILRB1_ENST00000448689.1_Missense_Mutation_p.Q22K|LILRA2_ENST00000391737.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.Q22K|LILRA2_ENST00000251377.3_Missense_Mutation_p.Q22K|LILRB1_ENST00000418536.2_Missense_Mutation_p.Q22K			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	22					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GACCCACGTGCAGGCAGGTGA	0.632000										HNSCC(37;0.09)			19	68					1.50039e-11	2.56082e-11	0.001882	1	0
CHEK2P2	646096	broad.mit.edu	37	15	20488826	20488826	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:20488826G>T	ENST00000555186.1	+	0	309					NR_038836.1																						CCACCTGCTTGGCTCCTGAAG	0.418000													9	142					2.74318e-10	4.49064e-10	0.006214	1	0
CTNND1	1500	broad.mit.edu	37	11	57569438	57569438	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:57569438A>G	ENST00000524630.1	+	7	1703	c.1190A>G	c.(1189-1191)aAt>aGt	p.N397S	CTNND1_ENST00000528232.1_Missense_Mutation_p.N296S|CTNND1_ENST00000530094.1_Missense_Mutation_p.N296S|CTNND1_ENST00000532649.1_Missense_Mutation_p.N343S|CTNND1_ENST00000532245.1_Missense_Mutation_p.N296S|CTNND1_ENST00000529873.1_Missense_Mutation_p.N343S|CTNND1_ENST00000532463.1_Missense_Mutation_p.N296S|CTNND1_ENST00000361391.6_Missense_Mutation_p.N397S|CTNND1_ENST00000360682.6_Missense_Mutation_p.N397S|CTNND1_ENST00000361332.4_Missense_Mutation_p.N397S|CTNND1_ENST00000530748.1_Missense_Mutation_p.N343S|CTNND1_ENST00000529526.1_Missense_Mutation_p.N343S|CTNND1_ENST00000361796.4_Missense_Mutation_p.N397S|CTNND1_ENST00000428599.2_Missense_Mutation_p.N397S|CTNND1_ENST00000528621.1_Missense_Mutation_p.N343S|CTNND1_ENST00000526772.1_Missense_Mutation_p.N74S|CTNND1_ENST00000531014.1_Missense_Mutation_p.N74S|CTNND1_ENST00000532787.1_Missense_Mutation_p.N296S|CTNND1_ENST00000534579.1_Missense_Mutation_p.N343S|CTNND1_ENST00000525902.1_Missense_Mutation_p.N74S|CTNND1_ENST00000533667.1_Missense_Mutation_p.N74S|CTNND1_ENST00000399039.4_Missense_Mutation_p.N397S|CTNND1_ENST00000532844.1_Missense_Mutation_p.N343S|CTNND1_ENST00000358694.6_Missense_Mutation_p.N397S|CTNND1_ENST00000415361.2_Missense_Mutation_p.N296S|CTNND1_ENST00000529919.1_Missense_Mutation_p.N397S|CTNND1_ENST00000527467.1_Missense_Mutation_p.N74S|CTNND1_ENST00000529986.1_Missense_Mutation_p.N296S|CTNND1_ENST00000399050.4_Missense_Mutation_p.N397S|CTNND1_ENST00000426142.2_Missense_Mutation_p.N296S|CTNND1_ENST00000526938.1_Missense_Mutation_p.N397S|CTNND1_ENST00000526357.1_Missense_Mutation_p.N343S			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	397					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGCTACCGCAATGACAAGGTG	0.532000													4	78					0	0	0.000248	0	0
TIAM1	7074	broad.mit.edu	37	21	32526583	32526583	+	Silent	SNP	C	C	T	rs147935563	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:32526583C>T	ENST00000286827.3	-	18	3624	c.3153G>A	c.(3151-3153)acG>acA	p.T1051T	TIAM1_ENST00000541036.1_Silent_p.T991T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1051	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGGTGCGCTCCGTCTCCAGGA	0.557000													7	43					0	0	0.001984	0	0
NRROS	375387	broad.mit.edu	37	3	196386747	196386747	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:196386747A>T	ENST00000328557.4	+	3	436	c.233A>T	c.(232-234)cAg>cTg	p.Q78L		NM_198565.1	NP_940967.1			negative regulator of reactive oxygen species																		CACTCCCTCCAGCCTTACCCT	0.677000													10	20					0	0	0.008291	0	0
RECQL5	9400	broad.mit.edu	37	17	73662539	73662539	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:73662539T>C	ENST00000420326.2	-	2	258	c.99A>G	c.(97-99)ttA>ttG	p.L33L	RECQL5_ENST00000584999.1_Silent_p.L33L|RECQL5_ENST00000317905.5_Silent_p.L33L|RECQL5_ENST00000340830.5_Silent_p.L33L|RECQL5_ENST00000423245.2_Silent_p.L33L	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	33					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)			CACTCTCCTGTAAAGGCGTCT	0.483000								Other identified genes with known or suspected DNA repair function					23	58					0	0	0.003330	0	0
CCNE1	898	broad.mit.edu	37	19	30314607	30314607	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:30314607G>T	ENST00000262643.3	+	12	1435	c.1156G>T	c.(1156-1158)Gct>Tct	p.A386S	CCNE1_ENST00000357943.5_Missense_Mutation_p.A343S|CCNE1_ENST00000444983.2_Missense_Mutation_p.A371S	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	386					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			ACAAAATAGGGCTTCTCCTCT	0.522000			A		serous ovarian								8	53					1.06961e-07	1.58006e-07	0.003080	1	0
ARMC4	55130	broad.mit.edu	37	10	28149741	28149741	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:28149741G>C	ENST00000305242.5	-	19	2926	c.2834C>G	c.(2833-2835)gCt>gGt	p.A945G	ARMC4_ENST00000545014.1_Missense_Mutation_p.A470G|ARMC4_ENST00000537576.1_Missense_Mutation_p.A637G	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	945							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ACGTGAAATAGCTTCTGCTAG	0.433000													10	48					0	0	0.006214	0	0
PVRL1	5818	broad.mit.edu	37	11	119548513	119548513	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:119548513C>A	ENST00000264025.3	-	3	1015	c.485G>T	c.(484-486)gGg>gTg	p.G162V	PVRL1_ENST00000524510.1_5'UTR|PVRL1_ENST00000340882.2_Missense_Mutation_p.G162V|PVRL1_ENST00000341398.2_Missense_Mutation_p.G162V	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	162	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTCATCCTGCCCCTTCTTGGC	0.562000													7	25					1.12685e-05	1.50615e-05	0.004482	1	0
LRRC66	339977	broad.mit.edu	37	4	52860965	52860965	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:52860965C>A	ENST00000343457.3	-	4	2229	c.2223G>T	c.(2221-2223)ggG>ggT	p.G741G		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	741						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCTTGCTTGCCCCTGAGCTCT	0.488000													39	81					9.73076e-26	1.96636e-25	0.006999	1	0
GALNT2	2590	broad.mit.edu	37	1	230372467	230372467	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:230372467A>T	ENST00000366672.4	+	6	675	c.603A>T	c.(601-603)cgA>cgT	p.R201R	GALNT2_ENST00000541865.1_Silent_p.R111R|GALNT2_ENST00000543760.1_Silent_p.R163R	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	201	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ATGATCGACGAGAAGGTAAGA	0.398000													6	33					0	0	0.001984	0	0
CSNK1E	1454	broad.mit.edu	37	22	38696770	38696770	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:38696770C>A	ENST00000396832.1	-	5	784	c.524G>T	c.(523-525)gGc>gTc	p.G175V	CSNK1E_ENST00000413574.2_Missense_Mutation_p.G175V|CSNK1E_ENST00000405675.3_Missense_Mutation_p.G175V|CSNK1E_ENST00000403904.1_Missense_Mutation_p.G175V|CSNK1E_ENST00000359867.3_Missense_Mutation_p.G175V|CSNK1E_ENST00000400206.2_Missense_Mutation_p.G175V	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	175	Protein kinase.				DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					GCGGGCCGTGCCGGTCAGGTT	0.647000													12	35					4.36969e-10	7.08514e-10	0.001855	1	0
FAM135B	51059	broad.mit.edu	37	8	139155268	139155268	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:139155268T>A	ENST00000395297.1	-	16	3795	c.3625A>T	c.(3625-3627)Ata>Tta	p.I1209L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1209										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			ATTCGGGATATGGAGAGGTTG	0.403000										HNSCC(54;0.14)			14	28					0	0	0.001855	0	0
COL9A3	1299	broad.mit.edu	37	20	61453473	61453473	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:61453473G>T	ENST00000343916.3	+	9	437	c.434G>T	c.(433-435)gGa>gTa	p.G145V		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	145	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGACCTTCTGGACTCCCCGGC	0.652000													12	51					9.31168e-06	1.25569e-05	0.001855	1	0
CBLL1	79872	broad.mit.edu	37	7	107399464	107399464	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:107399464G>C	ENST00000440859.2	+	6	1784	c.1317G>C	c.(1315-1317)ctG>ctC	p.L439L	CBLL1_ENST00000222597.2_Silent_p.L438L	NM_024814.2	NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase	439	Pro-rich.			L -> P (in Ref. 1; BAB15544).	cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAGGAACTCTGAGCCCTCCAT	0.537000													6	101					0	0	0.001168	0	0
TMTC1	83857	broad.mit.edu	37	12	29904696	29904696	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:29904696G>A	ENST00000256062.5	-	5	990	c.517C>T	c.(517-519)Cac>Tac	p.H173Y	TMTC1_ENST00000552618.1_Missense_Mutation_p.H281Y|TMTC1_ENST00000551659.1_Missense_Mutation_p.H281Y|TMTC1_ENST00000381224.2_Missense_Mutation_p.H173Y|TMTC1_ENST00000539277.1_Missense_Mutation_p.H281Y	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	281						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GCTCCTTTGTGAGGGAACCGC	0.642000													13	20					0	0	0.001855	0	0
CSH2	1443	broad.mit.edu	37	17	61949663	61949663	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:61949663G>T	ENST00000392886.2	-	5	628	c.477C>A	c.(475-477)cgC>cgA	p.R159R	CSH2_ENST00000345366.7_Silent_p.R64R|CSH2_ENST00000560142.1_Silent_p.R102R|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	159					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R159R(1)		endometrium(2)|large_intestine(1)|lung(3)	6						GCCCAGTCCGGCGGCTGCCGT	0.547000													25	98					1.32003e-05	1.74552e-05	0.005443	1	0
MRPL45	84311	broad.mit.edu	37	17	36478458	36478458	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:36478458C>T	ENST00000312513.5	+	8	1062	c.901C>T	c.(901-903)Cag>Tag	p.Q301*		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	301					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				AGGAGAGGCCCAGAAGCCTCA	0.527000											OREG0024353	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	29					0	0	0.000978	0	0
MPO	4353	broad.mit.edu	37	17	56348200	56348200	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:56348200C>T	ENST00000340482.3	-	11	2327	c.2151G>A	c.(2149-2151)gtG>gtA	p.V717V	MPO_ENST00000225275.3_Silent_p.V685V			P05164	PERM_HUMAN	myeloperoxidase	685			I -> V (in dbSNP:rs2759).		anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCATGCTGAACACACCCTCGT	0.567000													6	57					0	0	0.001984	0	0
FHOD1	29109	broad.mit.edu	37	16	67264340	67264340	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:67264340G>C	ENST00000258201.4	-	19	3175	c.2928C>G	c.(2926-2928)ttC>ttG	p.F976L	FHOD1_ENST00000567687.1_Missense_Mutation_p.F555L	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	976	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCGTGTGGCAGAACTGCATGA	0.592000													6	51					0	0	0.001168	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201780	193201780	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:193201780G>C	ENST00000342695.4	-	8	1075	c.753C>G	c.(751-753)ctC>ctG	p.L251L	ATP13A4_ENST00000295548.3_Silent_p.L251L|ATP13A4_ENST00000392443.3_Silent_p.L251L	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	251					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L251L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CGAGATGGTGGAGTTTTACAG	0.343000													13	127					0	0	0.002450	0	0
ECE2	9718	broad.mit.edu	37	3	184001646	184001646	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:184001646A>T	ENST00000402825.3	+	8	1244	c.1244A>T	c.(1243-1245)gAg>gTg	p.E415V	EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.E297V|ECE2_ENST00000359140.4_Missense_Mutation_p.E268V|ECE2_ENST00000357474.5_Missense_Mutation_p.E343V	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	415	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCCACGAGGGAGCAGATGCAG	0.607000													7	44					0	0	0.001984	0	0
C2CD3	26005	broad.mit.edu	37	11	73796749	73796749	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:73796749T>C	ENST00000334126.7	-	21	4050	c.3824A>G	c.(3823-3825)cAc>cGc	p.H1275R	C2CD3_ENST00000313663.7_Missense_Mutation_p.H1275R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1275	C2 1.					centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TCCACTACAGTGCTGAGTCAC	0.498000													11	38					0	0	0.000978	0	0
MYRIP	25924	broad.mit.edu	37	3	40211460	40211460	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:40211460G>T	ENST00000302541.6	+	8	1091	c.749G>T	c.(748-750)aGc>aTc	p.S250I	MYRIP_ENST00000396217.3_Missense_Mutation_p.S161I|MYRIP_ENST00000444716.1_Missense_Mutation_p.S250I|MYRIP_ENST00000425621.1_Missense_Mutation_p.S250I|MYRIP_ENST00000539167.1_Missense_Mutation_p.S63I|MYRIP_ENST00000459828.1_3'UTR	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	250	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AAACAGAAGAGCAAAAGTGAG	0.532000													15	19					2.31682e-05	3.01098e-05	0.003163	1	0
RUFY4	285180	broad.mit.edu	37	2	218947967	218947967	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:218947967T>C	ENST00000374155.3	+	10	1960	c.1550T>C	c.(1549-1551)tTg>tCg	p.L517S	RUFY4_ENST00000344321.7_Missense_Mutation_p.L497S|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	497							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		AGGCGGGTGTTGGAACTGATC	0.582000													8	48					0	0	0.004482	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873022	51873022	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:51873022G>T	ENST00000371497.5	+	2	3912	c.3025G>T	c.(3025-3027)Gta>Tta	p.V1009L	TSHZ2_ENST00000603338.2_Missense_Mutation_p.V1006L|TSHZ2_ENST00000329613.6_Missense_Mutation_p.V1006L|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1009					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CAAACATGCGGTAAAACTCCA	0.473000													23	73					2.89027e-11	4.89012e-11	0.002299	1	0
NR6A1	2649	broad.mit.edu	37	9	127300495	127300495	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:127300495C>G	ENST00000487099.2	-	6	857	c.700G>C	c.(700-702)Ggc>Cgc	p.G234R	NR6A1_ENST00000373584.3_Missense_Mutation_p.G230R|NR6A1_ENST00000344523.4_Missense_Mutation_p.G233R|NR6A1_ENST00000416460.2_Missense_Mutation_p.G229R	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	234	Sufficient for interaction with UIMC1 (By similarity).				cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						GGTGAGTGGCCAGAATAGCTA	0.507000													9	55					0	0	0.006214	0	0
ABCA9	10350	broad.mit.edu	37	17	67047243	67047243	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:67047243C>A	ENST00000340001.4	-	2	236	c.25G>T	c.(25-27)Ggt>Tgt	p.G9C	ABCA9_ENST00000370732.2_Missense_Mutation_p.G9C|ABCA9_ENST00000453985.2_Missense_Mutation_p.G9C|ABCA9_ENST00000495634.1_Missense_Mutation_p.G9C	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	9					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GTTTGCTGACCCACGCTCATG	0.388000													8	50					0.000157383	0.000193987	0.003080	1	0
PKHD1	5314	broad.mit.edu	37	6	51935236	51935236	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:51935236C>A	ENST00000371117.3	-	10	950	c.675G>T	c.(673-675)caG>caT	p.Q225H	PKHD1_ENST00000340994.4_Missense_Mutation_p.Q225H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	225	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCTAACATTCTGGGAGCCTG	0.388000													15	27					4.7546e-09	7.45198e-09	0.004007	1	0
SLC25A33	84275	broad.mit.edu	37	1	9613776	9613776	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:9613776A>G	ENST00000302692.6	+	2	359	c.149A>G	c.(148-150)tAc>tGc	p.Y50C		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	50					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		CGGACAGTCTACTATCCTCAG	0.478000													21	46					0	0	0.002299	0	0
SAMD9	54809	broad.mit.edu	37	7	92731170	92731170	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:92731170T>A	ENST00000379958.2	-	3	4510	c.4241A>T	c.(4240-4242)cAg>cTg	p.Q1414L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1414						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTCTCGAAGCTGATCTTTTAG	0.378000													26	102					0	0	0.005443	0	0
FAM208B	54906	broad.mit.edu	37	10	5791571	5791571	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:5791571C>G	ENST00000328090.5	+	15	6812	c.6187C>G	c.(6187-6189)Ctg>Gtg	p.L2063V		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	2063																	AGCCAGCAGTCTGGACAGCTC	0.493000													10	71					0	0	0.006214	0	0
TAF3	83860	broad.mit.edu	37	10	7866463	7866463	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:7866463G>T	ENST00000344293.5	+	2	555	c.349G>T	c.(349-351)Gca>Tca	p.A117S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	117					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AAGTAAAGATGCAGAGGAAAG	0.388000													28	55					0.000117367	0.000146386	0.005443	1	0
HSD3B2	3284	broad.mit.edu	37	1	119965095	119965095	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:119965095G>A	ENST00000543831.1	+	4	1220	c.971G>A	c.(970-972)aGt>aAt	p.S324N	HSD3B2_ENST00000369416.3_Missense_Mutation_p.S324N	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	324					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	TTATCAAATAGTGTGTTCACC	0.498000													11	78					0	0	0.000978	0	0
PDE3A	5139	broad.mit.edu	37	12	20783002	20783002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:20783002C>A	ENST00000359062.3	+	6	1741	c.1701C>A	c.(1699-1701)taC>taA	p.Y567*	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	567					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)	CCTTAACTTACACTCAGAGTG	0.443000													89	129					3.71036e-49	7.6918e-49	0.003610	1	0
ITGA8	8516	broad.mit.edu	37	10	15760795	15760795	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:15760795G>A	ENST00000378076.3	-	2	666	c.313C>T	c.(313-315)Cag>Tag	p.Q105*		NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN	integrin, alpha 8	105					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGCCTGCACTGCGCAGACCCC	0.597000													7	78					0	0	0.003080	0	0
LAMC3	10319	broad.mit.edu	37	9	133911562	133911562	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:133911562C>A	ENST00000361069.4	+	4	952	c.819C>A	c.(817-819)tgC>tgA	p.C273*	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	273	Laminin EGF-like 1.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGTGCAAGTGCAACGGGCATG	0.652000													7	61					0.00621372	0.00717819	0.006214	1	0
SLC17A2	10246	broad.mit.edu	37	6	25921632	25921632	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:25921632C>A	ENST00000377850.3	-	4	773	c.249G>T	c.(247-249)gtG>gtT	p.V83V	SLC17A2_ENST00000265425.3_Silent_p.V83V|SLC17A2_ENST00000360488.3_Silent_p.V83V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	83					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TCCATTGATACACAGAGGCCT	0.413000													6	26					3.59834e-05	4.62352e-05	0.001168	1	0
MROH2B	133558	broad.mit.edu	37	5	41052593	41052593	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:41052593G>T	ENST00000399564.4	-	12	1654	c.1204C>A	c.(1204-1206)Cag>Aag	p.Q402K	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTTGCAAACTGGGAGAAGACA	0.388000													17	122					3.32936e-07	4.79851e-07	0.006122	1	0
EHMT1	79813	broad.mit.edu	37	9	140637960	140637960	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:140637960C>G	ENST00000460843.1	+	5	988	c.961C>G	c.(961-963)Cat>Gat	p.H321D	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.H290D|EHMT1_ENST00000462484.1_Missense_Mutation_p.H321D	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	321					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAGCATAACTCATTCCACTGT	0.428000													9	46					0	0	0.004482	0	0
TAAR8	83551	broad.mit.edu	37	6	132873990	132873990	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:132873990G>A	ENST00000275200.1	+	1	159	c.159G>A	c.(157-159)atG>atA	p.M53I		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	53						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		TCTTAGTAATGACTTCTGTTC	0.448000													48	184					0	0	0.003610	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146187	10146187	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:10146187G>A	ENST00000450660.2	-	2	488	c.272C>T	c.(271-273)cCc>cTc	p.P91L	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.P91L	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		GATGGGCTGGGGCTTCCTGAC	0.532000													19	53					0	0	0.001216	0	0
GCNT2	2651	broad.mit.edu	37	6	10529193	10529193	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:10529193G>T	ENST00000379597.3	+	1	605	c.49G>T	c.(49-51)Gcc>Tcc	p.A17S	GCNT2_ENST00000495262.1_Missense_Mutation_p.A17S|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	17						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TCTTATCTCTGCCCTGATTTT	0.418000													21	88					1.64113e-05	2.15964e-05	0.001523	1	0
MRC1	4360	broad.mit.edu	37	10	17949705	17949705	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:17949705A>G	ENST00000331429.2	+	28	4172	c.4069A>G	c.(4069-4071)Aga>Gga	p.R1357G																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATTTGTAAAAGACCAAAAAG	0.363000													49	111					0	0	0.003610	0	0
IMPDH1	3614	broad.mit.edu	37	7	128034338	128034338	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:128034338A>C	ENST00000338791.6	-	16	2122	c.1772T>G	c.(1771-1773)cTg>cGg	p.L591R	IMPDH1_ENST00000354269.5_Missense_Mutation_p.L581R|IMPDH1_ENST00000480861.1_Missense_Mutation_p.L501R|IMPDH1_ENST00000496200.1_Missense_Mutation_p.L481R|IMPDH1_ENST00000343214.4_Missense_Mutation_p.L481R|IMPDH1_ENST00000419067.2_Missense_Mutation_p.L558R|IMPDH1_ENST00000470772.1_Missense_Mutation_p.L505R|IMPDH1_ENST00000348127.6_Missense_Mutation_p.L555R|IMPDH1_ENST00000378717.4_Missense_Mutation_p.L522R	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	506					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)	TTACGAGTGCAGGCCATGGAC	0.592000													4	28					0	0	0.000602	0	0
SLC22A2	6582	broad.mit.edu	37	6	160666574	160666574	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:160666574G>A	ENST00000366952.1	-	8	2379	c.898C>T	c.(898-900)Ctg>Ttg	p.L300L	SLC22A2_ENST00000366953.3_Silent_p.L321L|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	321					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCAAGTCTCAGGCGCTAAGAA	0.403000													6	24					0	0	0.001984	0	0
AATF	26574	broad.mit.edu	37	17	35310239	35310239	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:35310239G>T	ENST00000225402.5	+	3	588	c.337G>T	c.(337-339)Ggt>Tgt	p.G113C		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	113	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				AGAGGGACTGGGTCTGGAGGA	0.483000													16	66					0.000422831	0.000514653	0.004007	1	0
FGF13	2258	broad.mit.edu	37	X	137715014	137715014	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:137715014C>A	ENST00000315930.6	-	5	1396	c.735G>T	c.(733-735)acG>acT	p.T245T	FGF13_ENST00000305414.4_Silent_p.T192T|FGF13_ENST00000441825.2_Silent_p.T226T|FGF13_ENST00000541469.1_Silent_p.T199T|FGF13_ENST00000370603.3_Silent_p.T255T	NM_004114.3	NP_004105.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	245					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.T245T(1)|p.T192T(1)|p.T255T(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCACTGGCTACGTTGATTCAT	0.502000													50	120					4.29476e-34	8.79619e-34	0.003610	1	0
WDR4	10785	broad.mit.edu	37	21	44283572	44283572	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:44283572T>G	ENST00000398208.2	-	4	490	c.431A>C	c.(430-432)cAc>cCc	p.H144P	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.H144P	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	144					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CATAGACAGGTGCCCCAGCTC	0.607000													4	21					0	0	0.000248	0	0
ENPP1	5167	broad.mit.edu	37	6	132173372	132173372	+	Missense_Mutation	SNP	C	C	T	rs145868241	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:132173372C>T	ENST00000360971.2	+	5	634	c.614C>T	c.(613-615)gCa>gTa	p.A205V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	205	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CAGTGCCCAGCAGGGTAAGAT	0.294000													17	58					0	0	0.004990	0	0
ZNF480	147657	broad.mit.edu	37	19	52825580	52825580	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:52825580A>G	ENST00000595962.1	+	5	1143	c.1077A>G	c.(1075-1077)gtA>gtG	p.V359V	ZNF480_ENST00000335090.6_Silent_p.V282V|ZNF480_ENST00000334564.7_Silent_p.V316V|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000490272.1_3'UTR	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		CGCTCCTTGTACGACATCAGA	0.378000													8	66					0	0	0.003080	0	0
AR	367	broad.mit.edu	37	X	66937402	66937402	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:66937402G>C	ENST00000374690.3	+	5	2780	c.2256G>C	c.(2254-2256)tgG>tgC	p.W752C	AR_ENST00000396044.3_Intron|AR_ENST00000396043.2_Missense_Mutation_p.W220C	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	751	Interaction with MYST2.|Ligand-binding.		R -> Q (in AIS).		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)	CCATGGGCTGGCGATCCTTCA	0.532000									Androgen Insensitivity Syndrome				11	34					0	0	0.001368	0	0
DNAH5	1767	broad.mit.edu	37	5	13876872	13876872	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:13876872T>C	ENST00000265104.4	-	22	3421	c.3317A>G	c.(3316-3318)tAt>tGt	p.Y1106C	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1106	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTCTTATAATAGTTCTTGGT	0.343000									Kartagener syndrome				15	91					0	0	0.003163	0	0
PDIA5	10954	broad.mit.edu	37	3	122873846	122873846	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:122873846G>T	ENST00000316218.7	+	15	1397	c.1302G>T	c.(1300-1302)ccG>ccT	p.P434P	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	434	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGGTCATTCCGCACTTTACTG	0.532000													31	83					1.74807e-11	2.97981e-11	0.002096	1	0
GBX2	2637	broad.mit.edu	37	2	237076108	237076108	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:237076108C>T	ENST00000306318.4	-	1	904	c.507G>A	c.(505-507)acG>acA	p.T169T	AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000551105.1_Silent_p.T169T|AC079135.1_ENST00000415226.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	169				LPPAHPHHQIPSLPTGFCSSLAQGMALTSTLMATLPGGFSA SPQHQEAAAARKFAPQPLPGGGNFDKAEALQADAEDGKGFL AKEGSLLAFSAAETVQASLVGAVRGQGKDESKVEDDPKG -> CRPHTLTTRSPACPQASAPAWRRAWRSPLRSWPRSPAA SPRRPSTRRRQRPASSRRSRCPAAVTSTRRRRCRLTRRTAK ASWPKRARCSPSPRPRRCRLRSSGLSEGKGKTSQRWKTTRS (in Ref. 1; AAC03241).		nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AAGCCTGCACCGTCTCGGCCG	0.736000													6	9					0	0	0.003080	0	0
BVES	11149	broad.mit.edu	37	6	105564715	105564715	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:105564715C>A	ENST00000314641.5	-	6	893	c.677G>T	c.(676-678)aGa>aTa	p.R226I	BVES_ENST00000446408.2_Missense_Mutation_p.R226I|BVES_ENST00000336775.5_Missense_Mutation_p.R226I	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	226					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				GCATAAAAATCTGCAGTTATC	0.313000													8	39					0.000274275	0.000335034	0.004482	1	0
IGSF22	283284	broad.mit.edu	37	11	18738369	18738369	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:18738369G>T	ENST00000513874.1	-	10	1291	c.1152C>A	c.(1150-1152)caC>caA	p.H384Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859.3	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	384										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TCTTAAGCGTGTGCGTCAGAC	0.517000													43	129					2.35958e-20	4.66437e-20	0.002222	1	0
ABCA10	10349	broad.mit.edu	37	17	67190585	67190585	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:67190585T>G	ENST00000269081.4	-	13	2195	c.1286A>C	c.(1285-1287)aAt>aCt	p.N429T	ABCA10_ENST00000416101.2_Missense_Mutation_p.N429T	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	429	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACCAGCTCCATTATGCCCAAG	0.333000													17	50					0	0	0.004990	0	0
GALNT14	79623	broad.mit.edu	37	2	31147103	31147103	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:31147103T>A	ENST00000349752.5	-	13	1901	c.1262A>T	c.(1261-1263)aAg>aTg	p.K421M	GALNT14_ENST00000324589.5_Missense_Mutation_p.K426M|GALNT14_ENST00000406653.1_Missense_Mutation_p.K401M|GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.K386M|GALNT14_ENST00000356174.3_Missense_Mutation_p.K388M	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	421	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GATATTGCCCTTCTGGATGGA	0.532000													17	97					0	0	0.006122	0	0
TNN	63923	broad.mit.edu	37	1	175097288	175097288	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:175097288A>T	ENST00000239462.4	+	14	3279	c.3166A>T	c.(3166-3168)Acc>Tcc	p.T1056S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1056	Fibronectin type-III 9.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGTATCCACCACCCTCTCCAC	0.552000													16	36					0	0	0.004007	0	0
PHC2	1912	broad.mit.edu	37	1	33799778	33799778	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:33799778A>T	ENST00000257118.5	-	9	1724	c.1671T>A	c.(1669-1671)aaT>aaA	p.N557K	PHC2_ENST00000419414.2_Missense_Mutation_p.N558K|PHC2_ENST00000373416.1_Missense_Mutation_p.N22K|PHC2_ENST00000373422.3_Missense_Mutation_p.N163K|PHC2_ENST00000373418.3_Missense_Mutation_p.N22K|PHC2_ENST00000431992.1_Missense_Mutation_p.N528K|PHC2_ENST00000485928.1_Intron	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	557					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTGGTGGTTTATTCTCACCAT	0.572000													11	78					0	0	0.008291	0	0
OR1N2	138882	broad.mit.edu	37	9	125316353	125316353	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:125316353T>A	ENST00000373688.2	+	1	963	c.905T>A	c.(904-906)cTa>cAa	p.L302Q		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						ATTCCCACGCTAAACCCATTC	0.393000													8	69					0	0	0.006214	0	0
ST18	9705	broad.mit.edu	37	8	53084452	53084452	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:53084452G>T	ENST00000276480.7	-	10	1652	c.969C>A	c.(967-969)acC>acA	p.T323T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	323						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCTCTTTGTAGGTGTTATGGA	0.483000													19	66					2.4624e-09	3.8907e-09	0.001216	1	0
SYNE2	23224	broad.mit.edu	37	14	64564793	64564793	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:64564793G>A	ENST00000357395.3	+	63	12534	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E4112K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Missense_Mutation_p.E464K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E4079K|SYNE2_ENST00000344113.4_Missense_Mutation_p.E4079K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E713K			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4079					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)		AGAAGGAGTAGAAAGAGATAG	0.483000													5	77					0	0	0.001984	0	0
COL15A1	1306	broad.mit.edu	37	9	101802814	101802814	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:101802814G>A	ENST00000375001.3	+	23	2910	c.2487G>A	c.(2485-2487)ggG>ggA	p.G829G		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	829	Triple-helical region 4 (COL4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCCGGACGGGTTGCCTGGGC	0.582000													16	86					0	0	0.004007	0	0
ASCC3	10973	broad.mit.edu	37	6	100965956	100965956	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:100965956C>G	ENST00000369162.2	-	38	6182	c.5838G>C	c.(5836-5838)ctG>ctC	p.L1946L		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1946	SEC63 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CCATCTGAATCAGGTTGGTGA	0.433000													20	58					0	0	0.001216	0	0
SLITRK3	22865	broad.mit.edu	37	3	164906974	164906974	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164906974C>G	ENST00000475390.1	-	2	2088	c.1645G>C	c.(1645-1647)Gaa>Caa	p.E549Q	SLITRK3_ENST00000241274.3_Missense_Mutation_p.E549Q			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	549						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTCAAGTGTTCCAGGACACCA	0.532000										HNSCC(40;0.11)			13	41					0	0	0.002450	0	0
NFASC	23114	broad.mit.edu	37	1	204943892	204943892	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:204943892C>A	ENST00000367172.4	+	14	1827	c.1499C>A	c.(1498-1500)aCc>aAc	p.T500N	NFASC_ENST00000513543.1_Missense_Mutation_p.T511N|NFASC_ENST00000338515.6_Missense_Mutation_p.T500N|NFASC_ENST00000367169.4_Missense_Mutation_p.T500N|NFASC_ENST00000367170.4_Missense_Mutation_p.T500N|NFASC_ENST00000401399.1_Missense_Mutation_p.T500N|NFASC_ENST00000404907.1_Missense_Mutation_p.T511N|NFASC_ENST00000339876.6_Missense_Mutation_p.T500N|NFASC_ENST00000404076.1_Missense_Mutation_p.T494N|NFASC_ENST00000403080.1_Missense_Mutation_p.T500N|NFASC_ENST00000367171.4_Missense_Mutation_p.T500N|NFASC_ENST00000360049.4_Missense_Mutation_p.T511N|NFASC_ENST00000539706.1_Missense_Mutation_p.T511N|NFASC_ENST00000338586.6_Missense_Mutation_p.T500N			O94856	NFASC_HUMAN	neurofascin	500	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGCATCTACACCTGTGTCGCC	0.522000													13	75					1.5842e-08	2.41892e-08	0.001855	1	0
CLCA2	9635	broad.mit.edu	37	1	86898153	86898153	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:86898153T>C	ENST00000370565.4	+	5	848	c.686T>C	c.(685-687)aTc>aCc	p.I229T		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	229					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCACCTTTATCTACAATAGC	0.378000													28	82					0	0	0.008361	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72196853	72196853	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:72196853G>T	ENST00000555818.1	+	18	5107	c.4759G>T	c.(4759-4761)Gag>Tag	p.E1587*	SIPA1L1_ENST00000358550.2_Nonsense_Mutation_p.E1566*|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Nonsense_Mutation_p.E1041*|SIPA1L1_ENST00000381232.3_Nonsense_Mutation_p.E1566*	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1587					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTGTCGGACGAGAGCATTTA	0.567000													9	58					1.12685e-05	1.50615e-05	0.004482	1	0
USF1	7391	broad.mit.edu	37	1	161011976	161011976	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:161011976C>A	ENST00000368021.3	-	5	410	c.206G>T	c.(205-207)gGg>gTg	p.G69V	USF1_ENST00000435396.1_Missense_Mutation_p.G10V|USF1_ENST00000368019.1_Missense_Mutation_p.G69V|USF1_ENST00000368020.1_Missense_Mutation_p.G69V	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	69					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATCCAGCTGCCCCTCAGACAC	0.547000													17	44					7.05477e-17	1.32899e-16	0.004990	1	0
OPRM1	4988	broad.mit.edu	37	6	154412483	154412483	+	Missense_Mutation	SNP	G	G	C	rs77013544		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:154412483G>C	ENST00000414028.2	+	3	1090	c.1040G>C	c.(1039-1041)cGa>cCa	p.R347P	OPRM1_ENST00000524163.1_Missense_Mutation_p.R347P|OPRM1_ENST00000229768.5_Missense_Mutation_p.R347P|OPRM1_ENST00000360422.4_Missense_Mutation_p.R347P|OPRM1_ENST00000435918.2_Missense_Mutation_p.R347P|OPRM1_ENST00000337049.4_Missense_Mutation_p.R347P|OPRM1_ENST00000522555.1_Missense_Mutation_p.R247P|OPRM1_ENST00000428397.2_Missense_Mutation_p.R347P|OPRM1_ENST00000434900.2_Missense_Mutation_p.R440P|OPRM1_ENST00000522236.1_Missense_Mutation_p.R247P|OPRM1_ENST00000330432.7_Missense_Mutation_p.R347P|OPRM1_ENST00000518759.1_Missense_Mutation_p.R266P|OPRM1_ENST00000452687.2_Missense_Mutation_p.R347P|OPRM1_ENST00000419506.2_Missense_Mutation_p.R347P|OPRM1_ENST00000520708.1_Missense_Mutation_p.R247P	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	347					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R347Q(2)|p.R440Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AACTTCAAACGATGCTTCAGA	0.463000													5	80					0	0	0.000602	0	0
SI	6476	broad.mit.edu	37	3	164737505	164737505	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164737505G>T	ENST00000264382.3	-	28	3370	c.3308C>A	c.(3307-3309)tCg>tAg	p.S1103*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1103	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CAGGCGAGTCGATATTTGAAT	0.378000										HNSCC(35;0.089)			9	73					0.00621372	0.00717819	0.006214	1	0
CHST5	23563	broad.mit.edu	37	16	75563281	75563281	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:75563281G>A	ENST00000336257.3	-	3	2396	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	CHST5_ENST00000541075.1_Silent_p.I340I|RP11-77K12.7_ENST00000460606.1_3'UTR	NM_024533.4	NP_078809.2	Q9GZS9	CHST5_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5	334					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						TTGGCTTGCCGATCCCCGACC	0.642000													15	50					0	0	0.003163	0	0
ANO3	63982	broad.mit.edu	37	11	26655768	26655768	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:26655768T>A	ENST00000256737.3	+	19	2743	c.1891T>A	c.(1891-1893)Tca>Aca	p.S631T	ANO3_ENST00000531568.1_Missense_Mutation_p.S485T|ANO3_ENST00000537978.1_Missense_Mutation_p.S615T|ANO3_ENST00000525139.1_Missense_Mutation_p.S615T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	631						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TCGAACAGAATCAGAGTGGGA	0.428000													12	40					0	0	0.001368	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136437	40136437	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:40136437G>A	ENST00000278198.2	-	2	3369	c.1406C>T	c.(1405-1407)gCa>gTa	p.A469V	LRRC4C_ENST00000528697.1_Missense_Mutation_p.A469V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.A469V|LRRC4C_ENST00000530763.1_Missense_Mutation_p.A469V			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	469					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TGTGGTCCGTGCCTCATCCTG	0.522000													19	48					0	0	0.001216	0	0
SMG6	23293	broad.mit.edu	37	17	2203274	2203274	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:2203274C>A	ENST00000544865.1	-	2	1190	c.680G>T	c.(679-681)aGc>aTc	p.S227I	SMG6_ENST00000263073.5_Missense_Mutation_p.S258I			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	258	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGAGCTGGTGCTGCGCGTGCG	0.657000													14	28					9.05144e-12	1.55265e-11	0.001855	1	0
SCG2	7857	broad.mit.edu	37	2	224463909	224463909	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:224463909T>G	ENST00000305409.2	-	2	324	c.92A>C	c.(91-93)cAg>cCg	p.Q31P		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	31					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		CTGGTTTCTCTGAAATGAAGC	0.458000													4	103					0	0	0.000248	0	0
OR4K14	122740	broad.mit.edu	37	14	20483114	20483114	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:20483114G>A	ENST00000305045.2	-	1	238	c.239C>T	c.(238-240)cCc>cTc	p.P80L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GATCATCTTGGGAGTGGCAAA	0.488000													3	26					0	0	0.004672	0	0
GPNMB	10457	broad.mit.edu	37	7	23313811	23313811	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:23313811C>A	ENST00000258733.4	+	11	1946	c.1651C>A	c.(1651-1653)Ctc>Atc	p.L551I	GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000539136.1_Missense_Mutation_p.L452I|GPNMB_ENST00000453162.2_Missense_Mutation_p.L505I|GPNMB_ENST00000381990.2_Missense_Mutation_p.L563I			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	563					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GGATCCGCTACTCAAAAACCA	0.438000													10	82					2.17888e-05	2.84528e-05	0.006214	1	0
KMT2E	55904	broad.mit.edu	37	7	104747098	104747098	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:104747098C>G	ENST00000334877.4	+	20	3260	c.2726C>G	c.(2725-2727)tCt>tGt	p.S909C	KMT2E_ENST00000311117.3_Missense_Mutation_p.S909C|KMT2E_ENST00000257745.4_Missense_Mutation_p.S909C|KMT2E_ENST00000334914.7_5'UTR					lysine (K)-specific methyltransferase 2E																		ATGGACCCATCTTTTGCCACG	0.433000													7	166					0	0	0.001984	0	0
KIF6	221458	broad.mit.edu	37	6	39693041	39693041	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:39693041C>A	ENST00000287152.7	-	1	140	c.46G>T	c.(46-48)Gtc>Ttc	p.V16F	KIF6_ENST00000538893.1_Missense_Mutation_p.V16F|KIF6_ENST00000373215.3_Missense_Mutation_p.V16F|KIF6_ENST00000373216.3_Missense_Mutation_p.V16F	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	16	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGCTTCCGGACAGGGGGCTTC	0.682000													30	131					8.58068e-18	1.64142e-17	0.007291	1	0
PXMP2	5827	broad.mit.edu	37	12	133277921	133277921	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:133277921T>A	ENST00000317479.3	+	4	550	c.485T>A	c.(484-486)cTa>cAa	p.L162Q	RP13-672B3.2_ENST00000537262.1_Silent_p.T33T|PXMP2_ENST00000545677.1_Silent_p.T33T|PXMP2_ENST00000428960.2_Missense_Mutation_p.L69Q|PXMP2_ENST00000539093.1_Silent_p.T33T|PXMP2_ENST00000543589.1_Intron	NM_018663.1	NP_061133.1	Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	162						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		TGGACGCCACTACAGTTCATC	0.577000													18	50					0	0	0.004990	0	0
NRIP3	56675	broad.mit.edu	37	11	9009769	9009769	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:9009769C>G	ENST00000309166.3	-	2	348	c.235G>C	c.(235-237)Ggt>Cgt	p.G79R	NRIP3_ENST00000531090.1_Missense_Mutation_p.G79R	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	79					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		ACACGGGGACCGCTTCGGAGC	0.493000													18	58					0	0	0.006122	0	0
ROS1	6098	broad.mit.edu	37	6	117677813	117677813	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:117677813T>A	ENST00000368508.3	-	25	4318	c.4120A>T	c.(4120-4122)Atc>Ttc	p.I1374F	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.I1369F	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1374					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGTACTGTGATAACTCTCCAA	0.433000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	42					0	0	0.001855	0	0
MGAT5	4249	broad.mit.edu	37	2	135206372	135206372	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:135206372G>T	ENST00000409645.1	+	17	2432	c.2180G>T	c.(2179-2181)cGg>cTg	p.R727L	MGAT5_ENST00000281923.2_Missense_Mutation_p.R727L			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	727					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TGCCCCTGCCGGGACTTCATC	0.602000													12	37					4.3838e-07	6.29161e-07	0.001855	1	0
HIST1H1B	3009	broad.mit.edu	37	6	27835138	27835138	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:27835138C>A	ENST00000331442.3	-	1	221	c.170G>T	c.(169-171)cGc>cTc	p.R57L		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	57	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						AAGGCCATTGCGCTCCTTAGA	0.597000													25	94					6.32553e-13	1.11598e-12	0.004656	1	0
MORN1	79906	broad.mit.edu	37	1	2317245	2317245	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:2317245C>A	ENST00000378531.3	-	5	623		c.e5+1		MORN1_ENST00000606372.1_Splice_Site|MORN1_ENST00000378529.3_Splice_Site	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1											breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		CTCATACTCACTGAAAGAGCA	0.582000													17	61					1.96292e-10	3.22108e-10	0.001523	1	0
TFAP2B	7021	broad.mit.edu	37	6	50791195	50791195	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:50791195A>T	ENST00000263046.4	+	3	350	c.184A>T	c.(184-186)Agc>Tgc	p.S62C	TFAP2B_ENST00000393655.3_Missense_Mutation_p.S53C|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	53	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					ACCCTACTCGAGCGCCCCGCC	0.697000													5	19					0	0	0.000602	0	0
CEACAM4	1089	broad.mit.edu	37	19	42131976	42131976	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:42131976G>T	ENST00000221954.2	-	2	533	c.424_splice	c.e2+1	p.H141_splice	CEACAM4_ENST00000600925.1_Splice_Site_p.H141_splice	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	141						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						ATCACTCACGGTGTACGTGGA	0.552000													24	108					7.92952e-12	1.36192e-11	0.003954	1	0
TAB1	10454	broad.mit.edu	37	22	39817853	39817853	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:39817853C>T	ENST00000216160.6	+	8	860	c.798C>T	c.(796-798)atC>atT	p.I266I	TAB1_ENST00000331454.3_Silent_p.I266I	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	266	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						CCAAACCAATCATCGCAGAGC	0.587000													13	62					0	0	0.002450	0	0
SEC24B	10427	broad.mit.edu	37	4	110384497	110384497	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:110384497G>T	ENST00000265175.5	+	2	629	c.574G>T	c.(574-576)Gcg>Tcg	p.A192S	SEC24B_ENST00000504968.2_Missense_Mutation_p.A223S|SEC24B_ENST00000399100.2_Missense_Mutation_p.A192S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	192					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTAATGCCGCGTATCCTAG	0.453000													6	188					0.00116845	0.00138989	0.001168	1	0
HCK	3055	broad.mit.edu	37	20	30659562	30659562	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:30659562G>T	ENST00000534862.1	+	3	463	c.100G>T	c.(100-102)Gat>Tat	p.D34Y	HCK_ENST00000375852.2_Missense_Mutation_p.D54Y|HCK_ENST00000520553.1_Missense_Mutation_p.D33Y|HCK_ENST00000518730.1_Missense_Mutation_p.D33Y|HCK_ENST00000375862.2_Missense_Mutation_p.D54Y|HCK_ENST00000538448.1_Missense_Mutation_p.D33Y	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	54					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTACGTGCCGGATCCCACATC	0.577000													5	19					1.23904e-05	1.64001e-05	0.000602	1	0
VPS13A	23230	broad.mit.edu	37	9	79933397	79933397	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:79933397G>A	ENST00000360280.3	+	41	5463	c.5203G>A	c.(5203-5205)Gct>Act	p.A1735T	VPS13A_ENST00000357409.5_Missense_Mutation_p.A1735T|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000376634.4_Missense_Mutation_p.A1735T|VPS13A_ENST00000376636.3_Missense_Mutation_p.A1696T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1735					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGTTCTTGAGGCTGGAATTGG	0.383000													17	69					0	0	0.004990	0	0
KCNJ5	3762	broad.mit.edu	37	11	128786491	128786491	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:128786491G>A	ENST00000529694.1	+	3	1501	c.1125G>A	c.(1123-1125)cgG>cgA	p.R375R	KCNJ5_ENST00000533599.1_Silent_p.R375R|KCNJ5_ENST00000338350.4_Silent_p.R375R	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	375					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GGGAAGGCCGGCTCCTCCAGT	0.592000													11	64					0	0	0.001368	0	0
MUC17	140453	broad.mit.edu	37	7	100685526	100685526	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:100685526C>G	ENST00000306151.4	+	3	10893	c.10829C>G	c.(10828-10830)tCt>tGt	p.S3610C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3610	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GTGACCACTTCTACTCAGAGC	0.468000													6	173					0	0	0.001984	0	0
SRGAP3	9901	broad.mit.edu	37	3	9074378	9074378	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:9074378A>T	ENST00000383836.3	-	12	1922	c.1495T>A	c.(1495-1497)Tat>Aat	p.Y499N	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Intron	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	499	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TTATGGCTATACACTGAGAGA	0.493000			T	RAF1	pilocytic astrocytoma								16	60					0	0	0.004990	0	0
MALAT1	378938	broad.mit.edu	37	11	65271793	65271793	+	RNA	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:65271793A>G	ENST00000534336.1	+	0	6561					NR_002819.2																						TTTTTTTTTTACAGACTTCAC	0.418000													5	13					0	0	0.001168	0	0
PCDH10	57575	broad.mit.edu	37	4	134084345	134084345	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:134084345G>T	ENST00000264360.4	+	4	3837	c.3011G>T	c.(3010-3012)gGc>gTc	p.G1004V		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1004					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		TCCACCTTTGGCAAAGAGAAG	0.517000													50	90					2.12129e-23	4.24257e-23	0.003610	1	0
KCNK13	56659	broad.mit.edu	37	14	90650636	90650636	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:90650636C>T	ENST00000282146.4	+	2	957	c.516C>T	c.(514-516)ccC>ccT	p.P172P		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	172						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGGCCCTGCCCCAGGAGAGCC	0.612000													21	70					0	0	0.001882	0	0
C5orf42	65250	broad.mit.edu	37	5	37169174	37169174	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:37169174C>A	ENST00000274258.7	-	34	7179	c.3592G>T	c.(3592-3594)Gat>Tat	p.D1198Y	C5orf42_ENST00000425232.2_Missense_Mutation_p.D2318Y|C5orf42_ENST00000508244.1_Missense_Mutation_p.D2318Y			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2318										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACATATTGATCCAAGTTCACA	0.373000													26	172					2.79863e-10	4.57043e-10	0.004656	1	0
OR5B12	390191	broad.mit.edu	37	11	58206793	58206793	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:58206793T>C	ENST00000302572.2	-	1	853	c.832A>G	c.(832-834)Ata>Gta	p.I278V		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGAATGACTATGGCATAGAAC	0.438000													10	31					0	0	0.006214	0	0
SESTD1	91404	broad.mit.edu	37	2	179979965	179979965	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179979965T>A	ENST00000428443.3	-	16	1982	c.1666A>T	c.(1666-1668)Agg>Tgg	p.R556W		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	556					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGCAACTGCCTGCCATAGTCA	0.418000													6	16					0	0	0.001168	0	0
IGHV1-45	28466	broad.mit.edu	37	14	106963363	106963363	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:106963363C>A	ENST00000390621.2	-	0	61																											CAGGTCCAGTCCATGGTGAGG	0.542000													8	51					0.00448238	0.00522241	0.004482	1	0
VHLL	391104	broad.mit.edu	37	1	156268966	156268966	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:156268966C>A	ENST00000339922.3	-	1	462	c.15G>T	c.(13-15)gcG>gcT	p.A5A		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCCGTTCCCCGCTCTCCAGG	0.597000													25	74					7.76418e-22	1.55056e-21	0.005443	1	0
TP53	7157	broad.mit.edu	37	17	7577507	7577507	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:7577507T>A	ENST00000420246.2	-	7	906	c.774A>T	c.(772-774)gaA>gaT	p.E258D	TP53_ENST00000269305.4_Missense_Mutation_p.E258D|TP53_ENST00000445888.2_Missense_Mutation_p.E258D|TP53_ENST00000455263.2_Missense_Mutation_p.E258D|TP53_ENST00000413465.2_Missense_Mutation_p.E258D|TP53_ENST00000359597.4_Missense_Mutation_p.E258D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	258	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E258D(9)|p.0?(8)|p.D259fs*5(1)|p.?(1)|p.E258fs*85(1)|p.E258fs*71(1)|p.D259fs*86(1)|p.E258fs*2(1)|p.E258_S260delEDS(1)|p.E258del(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)		ACCTGGAGTCTTCCAGTGTGA	0.577000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			18	21					0	0	0.006122	0	0
FBN3	84467	broad.mit.edu	37	19	8175977	8175977	+	Missense_Mutation	SNP	C	C	A	rs145427911	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:8175977C>A	ENST00000600128.1	-	33	4589	c.4175G>T	c.(4174-4176)gGc>gTc	p.G1392V	FBN3_ENST00000601739.1_Missense_Mutation_p.G1392V|FBN3_ENST00000270509.2_Missense_Mutation_p.G1392V			Q75N90	FBN3_HUMAN	fibrillin 3	1392	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGGGTCAAAGCCCATCTCACA	0.657000													7	19					2.0095e-06	2.81e-06	0.001984	1	0
CDC34	997	broad.mit.edu	37	19	537086	537086	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:537086G>T	ENST00000215574.4	+	4	654	c.436G>T	c.(436-438)Gtg>Ttg	p.V146L		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	146					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACGCCTCCGTGATGTACAG	0.617000													12	53					3.07112e-06	4.22939e-06	0.000978	1	0
PTPRR	5801	broad.mit.edu	37	12	71078512	71078512	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:71078512C>A	ENST00000283228.2	-	9	1783	c.1331G>T	c.(1330-1332)aGc>aTc	p.S444I	PTPRR_ENST00000378778.1_Missense_Mutation_p.S238I|PTPRR_ENST00000342084.4_Missense_Mutation_p.S332I|PTPRR_ENST00000440835.2_Missense_Mutation_p.S199I|PTPRR_ENST00000549308.1_Missense_Mutation_p.S199I	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	444	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		AATGTAGGTGCTCAATGAATC	0.294000													15	83					8.60227e-14	1.54569e-13	0.004007	1	0
SHISA3	152573	broad.mit.edu	37	4	42403163	42403163	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:42403163C>A	ENST00000319234.4	+	2	630	c.412C>A	c.(412-414)Ctc>Atc	p.L138I		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	138					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCGCTTCTCACTCCGCAGCTA	0.587000													28	234					5.60225e-13	9.90943e-13	0.001786	1	0
LOC101927079	101927079	broad.mit.edu	37	15	22332556	22332556	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:22332556C>A	ENST00000558896.1	+	0	363																											GGTAACAGTGCAAGCCCATGC	0.388000													23	304					4.22769e-11	7.12639e-11	0.006320	1	0
EIF2B3	8891	broad.mit.edu	37	1	45407298	45407298	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:45407298C>A	ENST00000360403.2	-	4	460	c.334G>T	c.(334-336)Gtt>Ttt	p.V112F	EIF2B3_ENST00000372183.3_Missense_Mutation_p.V112F|EIF2B3_ENST00000480675.1_5'UTR	NM_001261418.1|NM_020365.4	NP_001248347.1|NP_065098.1	Q9NR50	EI2BG_HUMAN	eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa	112					negative regulation of translational initiation in response to stress|oligodendrocyte development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	nucleotidyltransferase activity|protein binding|translation initiation factor activity			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTAAGGCAACGTCTGTTATC	0.418000													15	71					6.94344e-10	1.12049e-09	0.006122	1	0
PROX1	5629	broad.mit.edu	37	1	214184904	214184904	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:214184904G>T	ENST00000366958.4	+	4	2482	c.1874G>T	c.(1873-1875)aGc>aTc	p.S625I	PROX1_ENST00000261454.4_Missense_Mutation_p.S625I|PROX1_ENST00000498508.2_Missense_Mutation_p.S625I|PROX1_ENST00000435016.1_Missense_Mutation_p.S625I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	625					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAGTGGTTTAGCAATTTCCGT	0.378000													9	69					3.09899e-07	4.48546e-07	0.004482	1	0
SYNE2	23224	broad.mit.edu	37	14	64537540	64537540	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:64537540A>T	ENST00000358025.3	+	52	10839	c.10609A>T	c.(10609-10611)Agt>Tgt	p.S3537C	SYNE2_ENST00000554584.1_Missense_Mutation_p.S3570C|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.S3537C|SYNE2_ENST00000555002.1_Missense_Mutation_p.S171C	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3537					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)		GCGCATCAGAAGTATCCAGAA	0.428000													12	39					0	0	0.000978	0	0
GRM7	2917	broad.mit.edu	37	3	7340513	7340513	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:7340513G>T	ENST00000486284.1	+	3	1152		c.e3+1		GRM7_ENST00000403881.1_Splice_Site|GRM7_ENST00000357716.4_Splice_Site|GRM7_ENST00000389336.4_Splice_Site|GRM7_ENST00000402647.2_Splice_Site	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGGATATAAAGTAAGAATAAC	0.413000													10	29					3.07112e-06	4.22939e-06	0.000978	1	0
FAM47A	158724	broad.mit.edu	37	X	34150261	34150261	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:34150261G>T	ENST00000346193.3	-	1	186	c.135C>A	c.(133-135)acC>acA	p.T45T		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	45										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCCAGTTCTGGGTGTCCATGG	0.577000													15	36					6.31663e-08	9.41274e-08	0.003163	1	0
SLC6A19	340024	broad.mit.edu	37	5	1221362	1221362	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:1221362C>T	ENST00000304460.10	+	11	1691	c.1635C>T	c.(1633-1635)atC>atT	p.I545I		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	545					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCTGATCATCTTCCTCTTCT	0.567000													10	30					0	0	0.006214	0	0
ITGBL1	9358	broad.mit.edu	37	13	102359230	102359230	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:102359230T>A	ENST00000376180.3	+	9	1476	c.1257T>A	c.(1255-1257)gaT>gaA	p.D419E	ITGBL1_ENST00000545560.2_Missense_Mutation_p.D278E|ITGBL1_ENST00000376162.3_Missense_Mutation_p.D326E	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	419	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)					AATCAGCAGATGGCATATTGT	0.478000													5	138					0	0	0.001168	0	0
THSD7B	80731	broad.mit.edu	37	2	138169276	138169276	+	Nonsense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:138169276T>A	ENST00000409968.1	+	14	2971	c.2793T>A	c.(2791-2793)taT>taA	p.Y931*	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Nonsense_Mutation_p.Y900*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.Y931*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCCAACCTTATGGAAACTGGT	0.483000													27	104					0	0	0.003954	0	0
LOC150776	150776	broad.mit.edu	37	2	132274507	132274507	+	RNA	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:132274507G>A	ENST00000438378.2	+	0	1549					NR_026922.1																						GCGACTCCCAGCCCCGGTGTG	0.637000													7	32					0	0	0.004482	0	0
FER	2241	broad.mit.edu	37	5	108134001	108134001	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:108134001A>T	ENST00000281092.4	+	3	502	c.118A>T	c.(118-120)Aaa>Taa	p.K40*	FER_ENST00000536402.1_Nonsense_Mutation_p.K40*|FER_ENST00000438717.2_5'UTR|FER_ENST00000502752.1_3'UTR	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	40	FCH.|Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		AAAAAGTGATAAAGAATATGC	0.343000													8	18					0	0	0.004482	0	0
CDH12	1010	broad.mit.edu	37	5	22078722	22078722	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:22078722G>T	ENST00000382254.1	-	5	1150	c.64C>A	c.(64-66)Cca>Aca	p.P22T	CDH12_ENST00000522262.1_Missense_Mutation_p.P22T|CDH12_ENST00000504376.2_Missense_Mutation_p.P22T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	22					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P22A(1)		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						GGTTGTAGTGGTGTTAGGAGA	0.458000										HNSCC(59;0.17)			61	241					2.40885e-21	4.79657e-21	0.003610	1	0
HGF	3082	broad.mit.edu	37	7	81381508	81381508	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:81381508C>T	ENST00000222390.5	-	5	779	c.553G>A	c.(553-555)Ggg>Agg	p.G185R	HGF_ENST00000423064.2_Missense_Mutation_p.G185R|HGF_ENST00000453411.1_Missense_Mutation_p.G180R|HGF_ENST00000444829.2_Missense_Mutation_p.G185R|HGF_ENST00000457544.2_Missense_Mutation_p.G180R	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	185	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CAGGGTCCCCCTTCTTCCCCT	0.448000													18	55					0	0	0.001216	0	0
SORCS1	114815	broad.mit.edu	37	10	108923926	108923926	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:108923926C>A	ENST00000263054.6	-	1	366	c.359G>T	c.(358-360)cGg>cTg	p.R120L	SORCS1_ENST00000344440.6_Missense_Mutation_p.R120L	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	120						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCCCTCTCCCCGTTCTGCCTT	0.701000													8	28					0.000157383	0.000193987	0.003080	1	0
KCND2	3751	broad.mit.edu	37	7	119915331	119915331	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:119915331C>T	ENST00000331113.4	+	1	1610	c.645C>T	c.(643-645)caC>caT	p.H215H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	215					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCCCAGGTCACATTAAAGAAC	0.537000													6	36					0	0	0.001168	0	0
REG1P	5969	broad.mit.edu	37	2	79363120	79363120	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:79363120G>T	ENST00000444841.1	-	0	1218																											AGCACAGTAGGCAGTATTGGC	0.522000													5	18					0.000602214	0.000722021	0.000602	1	0
SV2A	9900	broad.mit.edu	37	1	149885321	149885321	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:149885321C>T	ENST00000369146.3	-	2	562	c.72G>A	c.(70-72)aaG>aaA	p.K24K	SV2A_ENST00000369145.1_Silent_p.K24K	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	24	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.K24K(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	TGGCCGCATGCTTTTTGACTT	0.547000													20	110					0	0	0.001882	0	0
MYLK2	85366	broad.mit.edu	37	20	30411373	30411373	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:30411373A>T	ENST00000375994.2	+	4	1139	c.866A>T	c.(865-867)gAg>gTg	p.E289V	MYLK2_ENST00000375985.4_Missense_Mutation_p.E289V			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	289	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AACTCCAAGGAGGCGCTCGGA	0.617000											OREG0025856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	55					0	0	0.003163	0	0
HIVEP3	59269	broad.mit.edu	37	1	42048667	42048667	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:42048667T>C	ENST00000372584.1	-	3	2816	c.1802A>G	c.(1801-1803)tAc>tGc	p.Y601C	HIVEP3_ENST00000247584.5_Missense_Mutation_p.Y601C|HIVEP3_ENST00000429157.2_Missense_Mutation_p.Y601C|HIVEP3_ENST00000372583.1_Missense_Mutation_p.Y601C	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	601	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CTCAGAACTGTATTCCCCTCC	0.572000													24	46					0	0	0.003330	0	0
PLA2G4E	123745	broad.mit.edu	37	15	42298308	42298308	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:42298308C>A	ENST00000399518.3	-	4	891	c.405G>T	c.(403-405)gaG>gaT	p.E135D	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.E106D	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	117	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AGACACTCAACTCTAGCACGT	0.512000													10	28					4.68919e-08	7.04931e-08	0.008291	1	0
PDE1A	5136	broad.mit.edu	37	2	183053759	183053759	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:183053759G>T	ENST00000435564.1	-	11	1402	c.1202C>A	c.(1201-1203)cCa>cAa	p.P401Q	PDE1A_ENST00000409365.1_Missense_Mutation_p.P385Q|PDE1A_ENST00000536095.1_Missense_Mutation_p.P297Q|PDE1A_ENST00000351439.5_Missense_Mutation_p.P385Q|PDE1A_ENST00000331935.6_Missense_Mutation_p.P401Q|PDE1A_ENST00000358139.2_Missense_Mutation_p.P401Q|PDE1A_ENST00000456212.1_Missense_Mutation_p.P401Q|PDE1A_ENST00000346717.4_Missense_Mutation_p.P367Q|PDE1A_ENST00000410103.1_Missense_Mutation_p.P401Q	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	401	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TGGGGAAAATGGAAGCCCTAA	0.408000													43	117					5.20837e-25	1.04938e-24	0.008740	1	0
HMCN1	83872	broad.mit.edu	37	1	186064471	186064471	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:186064471C>G	ENST00000271588.4	+	68	10620	c.10391C>G	c.(10390-10392)gCt>gGt	p.A3464G	HMCN1_ENST00000367492.2_Missense_Mutation_p.A3464G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3464	Ig-like C2-type 33.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAACCCCAGCTCCCAGTATG	0.522000													20	34					0	0	0.007413	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716789	13716789	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:13716789C>A	ENST00000279593.3	-	13	3592	c.3383G>T	c.(3382-3384)gGg>gTg	p.G1128V		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1128					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTCCCGTAGCCCTTCCTTGTC	0.607000													19	29					1.37657e-19	2.6938e-19	0.001882	1	0
MLIP	90523	broad.mit.edu	37	6	53986316	53986316	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:53986316C>A	ENST00000514921.1	+	2	248	c.135C>A	c.(133-135)acC>acA	p.T45T	MLIP_ENST00000358276.5_Silent_p.T39T|MLIP_ENST00000509997.1_Intron|MLIP_ENST00000274897.5_Silent_p.T45T|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000502396.1_Silent_p.T56T			Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	45						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						GACTACCAACCCATACTCAGT	0.393000													27	82					5.45727e-16	1.00852e-15	0.008361	1	0
EPRS	2058	broad.mit.edu	37	1	220153525	220153525	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:220153525C>A	ENST00000366923.3	-	26	3882	c.3613G>T	c.(3613-3615)Gtt>Ttt	p.V1205F		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1205	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCTTTAACAACAGGAATTGCC	0.358000													24	62					2.98393e-07	4.342e-07	0.002780	1	0
PCK1	5105	broad.mit.edu	37	20	56137200	56137200	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:56137200A>G	ENST00000319441.4	+	3	462	c.298A>G	c.(298-300)Aga>Gga	p.R100G	PCK1_ENST00000543666.1_Intron|PCK1_ENST00000535860.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	100					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAAGAGCAAAGAGACACAGT	0.547000													6	50					0	0	0.001984	0	0
AKAP12	9590	broad.mit.edu	37	6	151673998	151673998	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:151673998C>T	ENST00000402676.2	+	4	4712	c.4472C>T	c.(4471-4473)aCt>aTt	p.T1491I	AKAP12_ENST00000253332.1_Missense_Mutation_p.T1491I|AKAP12_ENST00000354675.6_Missense_Mutation_p.T1393I|AKAP12_ENST00000359755.5_Missense_Mutation_p.T1386I	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1491					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GTATCTGCTACTACCAAGAAA	0.498000													10	67					0	0	0.008291	0	0
RPS16	6217	broad.mit.edu	37	19	39924008	39924008	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:39924008C>A	ENST00000339471.4	-	4	481	c.441G>T	c.(439-441)atG>atT	p.M147I	RPS16_ENST00000601655.1_Missense_Mutation_p.D99Y|RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000251453.3_Missense_Mutation_p.D116Y			P62249	RS16_HUMAN	ribosomal protein S16	0					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGGGTCCGGTCATACTGGATG	0.537000													10	55					5.16669e-11	8.65563e-11	0.000978	1	0
SOCS5	9655	broad.mit.edu	37	2	46986566	46986566	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:46986566G>C	ENST00000306503.5	+	2	1069	c.897G>C	c.(895-897)ctG>ctC	p.L299L	SOCS5_ENST00000394861.2_Silent_p.L299L	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	299					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TATATAAACTGGGACCAAAAT	0.433000													20	62					0	0	0.001523	0	0
TPH2	121278	broad.mit.edu	37	12	72335394	72335394	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:72335394G>T	ENST00000333850.3	+	2	277	c.136G>T	c.(136-138)Gac>Tac	p.D46Y	TPH2_ENST00000546576.1_3'UTR	NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	46					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	CAAAAATGACGACAAAGGCAA	0.393000													6	26					3.59834e-05	4.62352e-05	0.001168	1	0
TLN1	7094	broad.mit.edu	37	9	35711289	35711289	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:35711289C>A	ENST00000314888.9	-	30	4335	c.3982G>T	c.(3982-3984)Gcc>Tcc	p.A1328S	TLN1_ENST00000540444.1_Missense_Mutation_p.A1328S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1328	Interaction with SYNM.				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)			AGGTTAGGGGCAGCAGGGTCC	0.582000													4	53					1.23904e-05	1.64001e-05	0.000602	1	0
NRXN1	9378	broad.mit.edu	37	2	50780095	50780095	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:50780095C>A	ENST00000404971.1	-	10	2848	c.1509G>T	c.(1507-1509)atG>atT	p.M503I	NRXN1_ENST00000406316.2_Missense_Mutation_p.M463I|NRXN1_ENST00000406859.3_Missense_Mutation_p.M463I|NRXN1_ENST00000402717.3_Missense_Mutation_p.M455I|NRXN1_ENST00000401669.2_Missense_Mutation_p.M463I|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.M455I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	463	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CATGGATCTTCATCTTAGGAT	0.418000													22	128					4.7796e-09	7.47396e-09	0.004656	1	0
POLRMT	5442	broad.mit.edu	37	19	624806	624806	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:624806C>G	ENST00000588649.2	-	5	1137	c.1053G>C	c.(1051-1053)gtG>gtC	p.V351V		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	351					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCTTGTGCACGGCCTTCA	0.637000													19	42					0	0	0.001882	0	0
ARHGAP9	64333	broad.mit.edu	37	12	57872980	57872980	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:57872980G>A	ENST00000393797.2	-	5	615	c.423C>T	c.(421-423)ccC>ccT	p.P141P	ARHGAP9_ENST00000393791.3_Silent_p.P70P|ARHGAP9_ENST00000550288.1_Silent_p.P149P|ARHGAP9_ENST00000356411.2_Silent_p.P70P|ARHGAP9_ENST00000424809.2_Silent_p.P70P			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	70					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GAGAGGTGGAGGGAGCTTCTA	0.567000													7	67					0	0	0.001984	0	0
RAMP1	10267	broad.mit.edu	37	2	238785925	238785925	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:238785925G>T	ENST00000254661.4	+	2	244	c.112G>T	c.(112-114)Gag>Tag	p.E38*	RAMP1_ENST00000409726.1_Nonsense_Mutation_p.E16*|RAMP1_ENST00000403885.1_Nonsense_Mutation_p.E16*|RAMP1_ENST00000404910.2_Nonsense_Mutation_p.E16*	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	38					intracellular protein transport|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane	protein transporter activity			kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	CCTCCTCCGGGAGCTCTGCCT	0.627000													9	61					3.86212e-05	4.92529e-05	0.008291	1	0
IGKV1-17	28937	broad.mit.edu	37	2	89417042	89417042	+	RNA	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:89417042T>C	ENST00000490686.1	-	0	168																											ATGCCCTGACTTGCCCGGCAA	0.527000													46	122					0	0	0.003610	0	0
ZZZ3	26009	broad.mit.edu	37	1	78034024	78034024	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:78034024C>A	ENST00000370801.3	-	13	2934	c.2459G>T	c.(2458-2460)gGc>gTc	p.G820V	ZZZ3_ENST00000370798.1_Missense_Mutation_p.G326V|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TACCTTAAAGCCCACATGTTG	0.328000													8	67					0.000442599	0.000535364	0.006214	1	0
LILRA3	11026	broad.mit.edu	37	19	54803141	54803141	+	Missense_Mutation	SNP	C	C	T	rs147561158	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:54803141C>T	ENST00000391745.1	-	8	903	c.587G>A	c.(586-588)cGg>cAg	p.R196Q	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.R179Q					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGATGGCCCGGGATGACCC	0.567000													16	101					0	0	0.004007	0	0
PADI6	353238	broad.mit.edu	37	1	17721512	17721512	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:17721512C>A	ENST00000434762.2	+	0	1454							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)	GTCCAAGCGCCGGTGGAGCTC	0.537000													16	37					2.31682e-05	3.01098e-05	0.003163	1	0
FUT7	2529	broad.mit.edu	37	9	139925532	139925532	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:139925532G>T	ENST00000314412.6	-	2	1677	c.659C>A	c.(658-660)gCc>gAc	p.A220D	C9orf139_ENST00000314330.2_Intron	NM_004479.3	NP_004470.1	Q11130	FUT7_HUMAN	fucosyltransferase 7 (alpha (1,3) fucosyltransferase)	220					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GCGGTACTGGGCCACGGTGGG	0.627000													25	170					6.32553e-13	1.11598e-12	0.004656	1	0
MIR3654	100500804	broad.mit.edu	37	11	62356644	62356644	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:62356644T>C	ENST00000496634.2	-	2	177	c.132A>G	c.(130-132)gtA>gtG	p.V44V	TUT1_ENST00000476907.1_Silent_p.V44V|TUT1_ENST00000308436.7_Silent_p.V82V																NS(1)	1						CTCGTAGTTCTACCAGGTGCC	0.532000													4	25					0	0	0.001168	0	0
DPP8	54878	broad.mit.edu	37	15	65744362	65744362	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:65744362C>A	ENST00000341861.5	-	18	3978	c.2398G>T	c.(2398-2400)Gac>Tac	p.D800Y	DPP8_ENST00000560048.2_5'UTR|DPP8_ENST00000339244.5_Missense_Mutation_p.D627Y|DPP8_ENST00000321118.7_Missense_Mutation_p.D751Y|DPP8_ENST00000300141.6_Missense_Mutation_p.D784Y|DPP8_ENST00000559233.1_Missense_Mutation_p.D800Y|DPP8_ENST00000321147.6_Missense_Mutation_p.D749Y|DPP8_ENST00000358939.4_Missense_Mutation_p.D684Y	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	800				PDQNE -> LTRMN (in Ref. 6; AAQ13623).	immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCATTCTGGTCAGGGTGACCC	0.428000													41	128					5.44703e-19	1.05984e-18	0.002222	1	0
TMTC1	83857	broad.mit.edu	37	12	29920927	29920927	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:29920927C>A	ENST00000256062.5	-	2	533	c.60G>T	c.(58-60)gtG>gtT	p.V20V	TMTC1_ENST00000552618.1_Silent_p.V128V|TMTC1_ENST00000551659.1_Silent_p.V128V|TMTC1_ENST00000381224.2_Silent_p.V20V|TMTC1_ENST00000539277.1_Silent_p.V128V	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	128						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGTACATCAGCACAAGAGTCA	0.358000													19	26					3.99206e-14	7.21112e-14	0.007413	1	0
CCDC137	339230	broad.mit.edu	37	17	79638803	79638803	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:79638803G>T	ENST00000329214.8	+	4	930	c.527G>T	c.(526-528)cGa>cTa	p.R176L		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	176										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GATAAAGTCCGACGGAAAAAG	0.577000													6	73					0.00198382	0.00234139	0.001984	1	0
FNIP2	57600	broad.mit.edu	37	4	159753234	159753234	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:159753234G>C	ENST00000264433.6	+	5	573	c.498G>C	c.(496-498)ctG>ctC	p.L166L	FNIP2_ENST00000379346.3_Silent_p.L189L	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	166					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CTCCACAACTGATGATTAGTA	0.403000													6	36					0	0	0.001168	0	0
ADAMTS12	81792	broad.mit.edu	37	5	33683200	33683200	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33683200C>A	ENST00000504830.1	-	5	1173	c.838G>T	c.(838-840)Ggg>Tgg	p.G280W	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G280W	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	280	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G280R(1)|p.G280W(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGGAACAACCCAGTGACCTAG	0.373000										HNSCC(64;0.19)			12	36					1.49906e-05	1.97458e-05	0.002450	1	0
INHBA	3624	broad.mit.edu	37	7	41739731	41739731	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:41739731G>T	ENST00000242208.4	-	2	488	c.242C>A	c.(241-243)gCg>gAg	p.A81E	INHBA-AS1_ENST00000420821.1_RNA|INHBA-AS1_ENST00000422822.1_RNA|INHBA_ENST00000442711.1_Missense_Mutation_p.A81E|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	81					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CAGAAGCGCCGCCTTGGGTAC	0.527000										TSP Lung(11;0.080)			117	315					3.3835e-51	7.02489e-51	0.003610	1	0
OR6K3	391114	broad.mit.edu	37	1	158687493	158687493	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158687493G>T	ENST00000368146.1	-	1	460	c.461C>A	c.(460-462)cCc>cAc	p.P154H	OR6K3_ENST00000368145.1_Missense_Mutation_p.P138H			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					ACAGAGCCGGGGGGTCATGAT	0.522000													43	77					3.54909e-21	7.04644e-21	0.002852	1	0
ZNF536	9745	broad.mit.edu	37	19	31039909	31039909	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:31039909G>T	ENST00000355537.3	+	4	3530	c.3383G>T	c.(3382-3384)aGt>aTt	p.S1128I		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1128					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)					GGGGCCTCCAGTTCCTGCCCC	0.547000													14	38					3.27435e-08	4.93326e-08	0.002450	1	0
MOAP1	64112	broad.mit.edu	37	14	93650126	93650126	+	Missense_Mutation	SNP	C	C	A	rs148364724		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:93650126C>A	ENST00000556883.1	-	2	946	c.462G>T	c.(460-462)caG>caT	p.Q154H	MOAP1_ENST00000298894.4_Missense_Mutation_p.Q154H			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	154					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		gcagggcaggctgaagagcct	0.512000													27	87					3.67414e-24	7.36993e-24	0.002445	1	0
MPP3	4356	broad.mit.edu	37	17	41895456	41895456	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:41895456C>A	ENST00000398393.1	-	10	1239	c.979G>T	c.(979-981)Gcg>Tcg	p.A327S	MPP3_ENST00000398389.4_Missense_Mutation_p.A302S			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	302					signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		AGGGTGCCCGCGGCTCTCCGG	0.642000													3	8					0.00024832	0.00030497	0.000248	1	0
TET3	200424	broad.mit.edu	37	2	74273589	74273589	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:74273589G>C	ENST00000409262.3	+	1	140	c.140G>C	c.(139-141)tGg>tCg	p.W47S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	47							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCCCGACTGGGAGGCTGCC	0.647000													5	32					0	0	0.001168	0	0
RHBDF1	64285	broad.mit.edu	37	16	111616	111616	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:111616G>A	ENST00000262316.6	-	9	1429	c.1287C>T	c.(1285-1287)ccC>ccT	p.P429P	RHBDF1_ENST00000454039.2_Silent_p.P429P	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	429					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)				AGAAGCCCACGGGCGCGATGC	0.667000													20	37					0	0	0.001523	0	0
SI	6476	broad.mit.edu	37	3	164786549	164786549	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164786549G>T	ENST00000264382.3	-	5	506	c.444C>A	c.(442-444)ttC>ttA	p.F148L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	148	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTGAGTTGTGAAGAGAACAC	0.388000										HNSCC(35;0.089)			22	78					6.44725e-10	1.04289e-09	0.002299	1	0
EIF5B	9669	broad.mit.edu	37	2	99976814	99976814	+	Nonsense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:99976814C>T	ENST00000289371.5	+	2	353	c.151C>T	c.(151-153)Cag>Tag	p.Q51*		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	51					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAAAAAAGCAGGACTTTGA	0.328000													5	27					0	0	0.000602	0	0
COL24A1	255631	broad.mit.edu	37	1	86453338	86453338	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:86453338C>A	ENST00000370571.2	-	20	2677		c.e20-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						cell adhesion	collagen	extracellular matrix structural constituent	p.?(1)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGAAAACCCTAGGGAATAT	0.358000													12	60					1.61879e-10	2.66601e-10	0.001368	1	0
HIST1H4F	8361	broad.mit.edu	37	6	26240950	26240950	+	Nonsense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:26240950C>G	ENST00000377745.2	+	1	390	c.297C>G	c.(295-297)taC>taG	p.Y99*		NM_003540.3	NP_003531.1	P62805	H4_HUMAN	histone cluster 1, H4f	99					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				GCACTCTGTACGGCTTTGGTG	0.557000													4	42					0	0	0.000248	0	0
FAT3	120114	broad.mit.edu	37	11	92498135	92498135	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:92498135C>G	ENST00000298047.6	+	5	4092	c.4075C>G	c.(4075-4077)Cca>Gca	p.P1359A	RP11-203F8.1_ENST00000529884.1_RNA|FAT3_ENST00000525166.1_Missense_Mutation_p.P1209A|FAT3_ENST00000409404.2_Missense_Mutation_p.P1359A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1359	Cadherin 12.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTCACCTATACCATTGACCTT	0.498000										TCGA Ovarian(4;0.039)			11	51					0	0	0.000978	0	0
HIST1H3B	8358	broad.mit.edu	37	6	26031973	26031973	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:26031973C>T	ENST00000244661.2	-	1	315	c.316G>A	c.(316-318)Gag>Aag	p.E106K		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	106					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TTTGTGTCCTCAAAGAGCCCT	0.542000													21	51					0	0	0.001882	0	0
C8A	731	broad.mit.edu	37	1	57333306	57333306	+	Silent	SNP	C	C	G	rs142045980		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:57333306C>G	ENST00000361249.3	+	2	198	c.102C>G	c.(100-102)ccC>ccG	p.P34P		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	34					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						CAGCTACACCCGCAGCAGTTA	0.473000													5	32					0	0	0.000602	0	0
PCDH7	5099	broad.mit.edu	37	4	30724559	30724559	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:30724559C>G	ENST00000361762.2	+	1	2523	c.1515C>G	c.(1513-1515)atC>atG	p.I505M	PCDH7_ENST00000543491.1_Missense_Mutation_p.I505M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	505	Cadherin 4.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ACGTGGTCATCGTGGCGGTGG	0.602000													12	25					0	0	0.000978	0	0
R3HDM2	22864	broad.mit.edu	37	12	57662768	57662768	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:57662768C>A	ENST00000402412.1	-	17	2202	c.1812G>T	c.(1810-1812)agG>agT	p.R604S	R3HDM2_ENST00000393811.2_Missense_Mutation_p.R317S|R3HDM2_ENST00000347140.3_Missense_Mutation_p.R590S|RP11-123K3.4_ENST00000548184.1_RNA|R3HDM2_ENST00000441731.2_Missense_Mutation_p.R285S|R3HDM2_ENST00000403821.2_Missense_Mutation_p.R624S|R3HDM2_ENST00000358907.2_Missense_Mutation_p.R590S|R3HDM2_ENST00000413953.2_Missense_Mutation_p.R317S			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	590	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCATGCTGCTCCTCTGGCTGC	0.582000													9	86					1.12685e-05	1.50615e-05	0.004482	1	0
CDHR1	92211	broad.mit.edu	37	10	85974034	85974034	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:85974034C>G	ENST00000372117.3	+	17	2340	c.2237C>G	c.(2236-2238)cCt>cGt	p.P746R	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.P450R	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	746					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CGGCCCAGCCCTGCGCCCCGC	0.582000													20	34					0	0	0.001216	0	0
CDSN	1041	broad.mit.edu	37	6	31083934	31083934	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:31083934A>T	ENST00000376288.2	-	2	1484	c.1458T>A	c.(1456-1458)tgT>tgA	p.C486*	PSORS1C1_ENST00000259881.9_Intron|PSORS1C1_ENST00000467107.1_3'UTR	NM_001264.4	NP_001255.3	Q15517	CDSN_HUMAN	corneodesmosin	486					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TGCTGGAGCCACAGGGCTTGG	0.617000													11	41					0	0	0.001368	0	0
ZNF667	63934	broad.mit.edu	37	19	56973772	56973772	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:56973772G>T	ENST00000342634.3	-	3	246	c.247C>A	c.(247-249)Ctc>Atc	p.L83I	ZNF667_ENST00000591790.1_5'UTR|ZNF667_ENST00000292069.6_5'UTR|ZNF667_ENST00000504904.3_5'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CACACTGAGAGATGGGCAGAG	0.567000													31	61					9.65963e-10	1.55697e-09	0.003271	1	0
FASTKD1	79675	broad.mit.edu	37	2	170417034	170417034	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170417034T>C	ENST00000453153.2	-	5	1180	c.834A>G	c.(832-834)ctA>ctG	p.L278L	FASTKD1_ENST00000453929.2_Silent_p.L278L	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	278					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						TATTAAATTGTAGAAATTTGT	0.284000													22	70					0	0	0.002780	0	0
BBS9	27241	broad.mit.edu	37	7	33545098	33545098	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:33545098G>A	ENST00000242067.6	+	20	2660	c.2139G>A	c.(2137-2139)gtG>gtA	p.V713V	BBS9_ENST00000396127.2_Silent_p.V678V|BBS9_ENST00000355070.2_Silent_p.V708V|BBS9_ENST00000354265.4_Silent_p.V678V|BBS9_ENST00000350941.3_Silent_p.V673V	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	713					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CAGATGCAGTGGAGGAAAACC	0.453000									Bardet-Biedl syndrome				21	141					0	0	0.001882	0	0
FASTKD1	79675	broad.mit.edu	37	2	170403179	170403179	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170403179G>C	ENST00000453153.2	-	8	1596	c.1250C>G	c.(1249-1251)tCt>tGt	p.S417C	FASTKD1_ENST00000453929.2_Missense_Mutation_p.S417C	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	417					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						GACCAGAACAGACACCTCAGT	0.373000													3	64					0	0	0.004672	0	0
SVOPL	136306	broad.mit.edu	37	7	138329521	138329521	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:138329521G>T	ENST00000421622.1	-	5	578	c.370C>A	c.(370-372)Cgc>Agc	p.R124S	SVOPL_ENST00000288513.5_Missense_Mutation_p.R92S|SVOPL_ENST00000419765.3_Missense_Mutation_p.R244S|SVOPL_ENST00000436657.1_Missense_Mutation_p.R92S			Q8N434	SVOPL_HUMAN	SVOP-like	244						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						TTGGCAACGCGCTCCAGAGTG	0.587000													16	73					2.23348e-06	3.10409e-06	0.004007	1	0
NLRP3	114548	broad.mit.edu	37	1	247587966	247587966	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:247587966C>A	ENST00000366497.2	+	4	2001	c.1221C>A	c.(1219-1221)acC>acA	p.T407T	NLRP3_ENST00000391827.2_Silent_p.T407T|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000366496.2_Silent_p.T407T|NLRP3_ENST00000391828.3_Silent_p.T407T|NLRP3_ENST00000336119.3_Silent_p.T407T|NLRP3_ENST00000348069.2_Silent_p.T407T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	407	NACHT.		T -> P (in CINCA).		detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCTCTTCACCATGTGCTTCA	0.547000													10	42					7.48243e-07	1.06379e-06	0.006214	1	0
AGRN	375790	broad.mit.edu	37	1	979595	979595	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:979595G>T	ENST00000379370.2	+	11	2156	c.2106G>T	c.(2104-2106)ccG>ccT	p.P702P		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	702	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		AGGACGGGCCGTGTGTCTGTG	0.711000													19	78					7.41877e-09	1.14703e-08	0.001882	1	0
BRINP2	57795	broad.mit.edu	37	1	177199149	177199149	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:177199149A>T	ENST00000361539.4	+	2	449	c.137A>T	c.(136-138)cAt>cTt	p.H46L		NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		46						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						CCCGAGCAGCATGCCTCCGTA	0.697000													15	33					0	0	0.002450	0	0
NEIL3	55247	broad.mit.edu	37	4	178274629	178274629	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:178274629G>T	ENST00000264596.3	+	8	1325	c.1207G>T	c.(1207-1209)Gaa>Taa	p.E403*	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718.2	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	403					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGTACTTTGGAAAGAAAAAC	0.368000								Base excision repair (BER), DNA glycosylases					16	18					6.31663e-08	9.41274e-08	0.003163	1	0
CCDC163P	126661	broad.mit.edu	37	1	45962293	45962293	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:45962293G>A	ENST00000490551.3	-	4	629	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000432082.1_Nonsense_Mutation_p.Q89*|CCDC163P_ENST00000488405.2_Nonsense_Mutation_p.Q89*																cervix(1)|endometrium(1)	2						TCCTGGTGCTGGCCTGCAGAT	0.542000													4	6					0	0	0.000248	0	0
ATRNL1	26033	broad.mit.edu	37	10	117024743	117024743	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:117024743A>G	ENST00000355044.3	+	11	1887	c.1761A>G	c.(1759-1761)gtA>gtG	p.V587V		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	587						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACTCTGCAGTAGTCATTAACG	0.318000													7	125					0	0	0.001984	0	0
RPS16	6217	broad.mit.edu	37	19	39924009	39924009	+	Nonsense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:39924009A>T	ENST00000251453.3	-	5	397	c.345T>A	c.(343-345)taT>taA	p.Y115*	RPS16_ENST00000601655.1_Nonsense_Mutation_p.Y98*|RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000339471.4_Missense_Mutation_p.M147K	NM_001020.4	NP_001011.1	P62249	RS16_HUMAN	ribosomal protein S16	115					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGTCCGGTCATACTGGATGA	0.537000													10	56					0	0	0.000978	0	0
PKHD1	5314	broad.mit.edu	37	6	51777291	51777291	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:51777291C>A	ENST00000371117.3	-	38	6480	c.6205G>T	c.(6205-6207)Gac>Tac	p.D2069Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.D2069Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2069					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTTCCAGTCCACAGCATCT	0.493000													22	102					1.96292e-10	3.22108e-10	0.001523	1	0
FADS2	9415	broad.mit.edu	37	11	61608140	61608140	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:61608140C>G	ENST00000278840.4	+	4	1191	c.561C>G	c.(559-561)gtC>gtG	p.V187V	FADS2_ENST00000522056.1_Silent_p.V156V|FADS2_ENST00000257261.6_Silent_p.V165V|FADS2_ENST00000521849.1_Silent_p.V187V	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	187					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACCTGTCTGTCTACAGAAAAC	0.547000													4	116					0	0	0.001168	0	0
TRPM2	7226	broad.mit.edu	37	21	45861640	45861640	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:45861640C>G	ENST00000397928.1	+	32	4897	c.4452C>G	c.(4450-4452)ctC>ctG	p.L1484L	TRPM2_ENST00000300482.5_Silent_p.L1484L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.L1534L|TRPM2_ENST00000300481.9_Silent_p.L1430L	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1484	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCATCCCACTCTATGCGAACC	0.642000													9	18					0	0	0.004482	0	0
DIRC2	84925	broad.mit.edu	37	3	122591347	122591347	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:122591347C>G	ENST00000261038.5	+	8	1622	c.1224C>G	c.(1222-1224)gtC>gtG	p.V408V		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	408					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		TGGAAACTGTCTACCCAGTTC	0.348000													33	136					0	0	0.002445	0	0
CAPN6	827	broad.mit.edu	37	X	110490691	110490691	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:110490691C>A	ENST00000324068.1	-	12	1815	c.1648G>T	c.(1648-1650)Gtc>Ttc	p.V550F	CAPN6_ENST00000541758.1_Missense_Mutation_p.V295F	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	550	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GGAGAACGGACTTCCTCCTTT	0.393000													23	60					2.89027e-11	4.89012e-11	0.002299	1	0
SLC44A5	204962	broad.mit.edu	37	1	75672357	75672357	+	Missense_Mutation	SNP	C	C	A	rs78856933	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:75672357C>A	ENST00000370855.5	-	24	2208	c.2095G>T	c.(2095-2097)Gta>Tta	p.V699L	SLC44A5_ENST00000370859.3_Intron|SLC44A5_ENST00000535611.1_Missense_Mutation_p.V569L	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	699						integral to membrane|plasma membrane	choline transmembrane transporter activity	p.V699L(1)		kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TTAGGGGTTACGAAGTAGGGT	0.413000													25	56					8.58068e-18	1.64142e-17	0.007291	1	0
AHRR	57491	broad.mit.edu	37	5	376812	376812	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:376812A>G	ENST00000316418.5	+	4	388	c.344A>G	c.(343-345)gAg>gGg	p.E115G	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Missense_Mutation_p.E115G	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	115	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCGTGCTGGAGGGAAGGCTG	0.627000													16	7					0	0	0.004007	0	0
MUC21	394263	broad.mit.edu	37	6	30955887	30955887	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:30955887G>T	ENST00000376296.3	+	3	1858	c.1617G>T	c.(1615-1617)agG>agT	p.R539S	MUC21_ENST00000486149.2_Missense_Mutation_p.R85S	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	539	Cytoplasmic tail.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCCCCCACAGGCCCAGGTGGA	0.597000													11	28					1.58986e-06	2.23698e-06	0.008291	1	0
ZNF606	80095	broad.mit.edu	37	19	58491351	58491351	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:58491351G>A	ENST00000341164.4	-	7	1317	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	ZNF606_ENST00000536132.1_Nonsense_Mutation_p.Q143*	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TGTTCTATCTGAGAAACTCTC	0.393000													9	95					0	0	0.004482	0	0
CACNA1C	775	broad.mit.edu	37	12	2742805	2742805	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:2742805G>T	ENST00000406454.3	+	30	3839	c.3839G>T	c.(3838-3840)aGt>aTt	p.S1280I	CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S1300I|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1280I|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1280I			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1300					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGTTACTTTAGTGATCCCTGG	0.443000													16	100					1.5739e-10	2.59836e-10	0.004007	1	0
ELAVL4	1996	broad.mit.edu	37	1	50666530	50666530	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:50666530C>A	ENST00000371824.1	+	7	1038	c.781C>A	c.(781-783)Cca>Aca	p.P261T	ELAVL4_ENST00000357083.4_Missense_Mutation_p.P278T|ELAVL4_ENST00000448907.2_Missense_Mutation_p.P264T|ELAVL4_ENST00000371819.1_Missense_Mutation_p.P266T|ELAVL4_ENST00000371823.4_Missense_Mutation_p.P275T|ELAVL4_ENST00000371827.1_Missense_Mutation_p.P261T|ELAVL4_ENST00000371821.1_Missense_Mutation_p.P280T			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	275					mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAGGTTCTCCCCAATTACCAT	0.537000													14	110					3.32936e-07	4.79851e-07	0.006122	1	0
PKHD1	5314	broad.mit.edu	37	6	51777292	51777292	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:51777292C>A	ENST00000371117.3	-	38	6479	c.6204G>T	c.(6202-6204)gtG>gtT	p.V2068V	PKHD1_ENST00000340994.4_Silent_p.V2068V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2068					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTTCCAGTCCACAGCATCTT	0.488000													23	99					3.62473e-10	5.88425e-10	0.001882	1	0
ZNF648	127665	broad.mit.edu	37	1	182026967	182026967	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:182026967G>T	ENST00000339948.3	-	2	386	c.179C>A	c.(178-180)cCa>cAa	p.P60Q		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GTGTGTTACTGGGGAGCTGCC	0.567000													23	49					1.10513e-12	1.93968e-12	0.002299	1	0
ZAK	51776	broad.mit.edu	37	2	174131331	174131331	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:174131331T>C	ENST00000375213.3	+	20	2334	c.2256T>C	c.(2254-2256)acT>acC	p.T752T	MLTK_ENST00000409176.2_Silent_p.T752T|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					ACCCTGAGACTGACTCAAGAG	0.557000													13	40					0	0	0.003163	0	0
TENM1	10178	broad.mit.edu	37	X	123839041	123839041	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:123839041G>T	ENST00000422452.2	-	5	900	c.837C>A	c.(835-837)aaC>aaA	p.N279K	TENM1_ENST00000371130.3_Missense_Mutation_p.N279K	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCAGAGGGTAGTTCTGACTGG	0.483000													34	84					3.67414e-24	7.36993e-24	0.002445	1	0
HERC1	8925	broad.mit.edu	37	15	63955365	63955365	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:63955365T>A	ENST00000443617.2	-	44	8806	c.8719A>T	c.(8719-8721)Agt>Tgt	p.S2907C		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2907					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTCTCCGACTTTGATTCCTG	0.408000													57	140					0	0	0.003610	0	0
NIFK	84365	broad.mit.edu	37	2	122488549	122488549	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:122488549C>G	ENST00000285814.4	-	4	556	c.484G>C	c.(484-486)Gag>Cag	p.E162Q		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		162					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						AATCGCTCCTCCATCCGTAGC	0.343000													5	130					0	0	0.000602	0	0
RASSF9	9182	broad.mit.edu	37	12	86199574	86199574	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:86199574C>T	ENST00000361228.3	-	2	582	c.214G>A	c.(214-216)Ggg>Agg	p.G72R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	72	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGGCTTCCCCAGAAGAAAT	0.502000													15	73					0	0	0.003163	0	0
KRT4	3851	broad.mit.edu	37	12	53203200	53203200	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:53203200G>A	ENST00000551956.1	-	4	1293	c.801C>T	c.(799-801)gaC>gaT	p.D267D	KRT4_ENST00000458244.2_Silent_p.D247D|KRT4_ENST00000293774.4_Silent_p.D341D			B4DRS2	B4DRS2_HUMAN	keratin 4	267						keratin filament	structural molecule activity	p.D341D(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						AGTTGATCTCGTCATTAAGAC	0.557000													6	75					0	0	0.001984	0	0
F13A1	2162	broad.mit.edu	37	6	6167690	6167690	+	Splice_Site	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:6167690C>T	ENST00000264870.3	-	13	2174		c.e13+1			NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide						peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTAAGACTGACCTTGATGATG	0.488000													11	57					0	0	0.004007	0	0
PAX4	5078	broad.mit.edu	37	7	127255572	127255572	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:127255572C>A	ENST00000338516.3	-	2	26	c.27G>T	c.(25-27)atG>atT	p.M9I	PAX4_ENST00000378740.2_Start_Codon_SNP_p.M1I|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000341640.2_Start_Codon_SNP_p.M1I			O43316	PAX4_HUMAN	paired box 4	9	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CAAGCTGGTTCATGCTGCTGA	0.637000													16	45					2.35188e-11	3.99908e-11	0.006122	1	0
TAGAP	117289	broad.mit.edu	37	6	159457615	159457615	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:159457615G>A	ENST00000367066.3	-	10	1771	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|TAGAP_ENST00000326965.6_Silent_p.P302P|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607796.1_RNA	NM_054114.3	NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	480					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AATTTCTTTTGGGACTGGAAG	0.537000													32	172					0	0	0.002836	0	0
OR5D13	390142	broad.mit.edu	37	11	55541121	55541121	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55541121T>A	ENST00000361760.1	+	1	208	c.208T>A	c.(208-210)Ttg>Atg	p.L70M		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	70					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)				TCACTTGTCCTTGACAGACTT	0.398000													18	88					0	0	0.007413	0	0
C12orf66	144577	broad.mit.edu	37	12	64587833	64587833	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:64587833T>C	ENST00000311915.8	-	3	1154	c.1127A>G	c.(1126-1128)aAc>aGc	p.N376S	C12orf66_ENST00000398055.3_Missense_Mutation_p.N376S|C12orf66_ENST00000544871.1_Missense_Mutation_p.N323S			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	376										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTCCAAGCTGTTCAGATCAGA	0.498000													32	94					0	0	0.002096	0	0
ZNF521	25925	broad.mit.edu	37	18	22804767	22804767	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:22804767C>A	ENST00000361524.3	-	4	3263	c.3115G>T	c.(3115-3117)Ggg>Tgg	p.G1039W	ZNF521_ENST00000538137.2_Missense_Mutation_p.G1039W|ZNF521_ENST00000584787.1_Missense_Mutation_p.G819W	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1039					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.G1039W(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGAACGTCCCATGGATTTTG	0.532000			T	PAX5	ALL								11	28					1.08611e-07	1.59577e-07	0.000978	1	0
NELFB	25920	broad.mit.edu	37	9	140151353	140151353	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:140151353G>C	ENST00000343053.4	+	4	781	c.444G>C	c.(442-444)caG>caC	p.Q148H		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		TGAAGCGGCAGATCTGGCAAG	0.562000													4	42					0	0	0.000248	0	0
USH2A	7399	broad.mit.edu	37	1	216405433	216405433	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:216405433G>T	ENST00000366943.2	-	14	3241	c.2855C>A	c.(2854-2856)tCa>tAa	p.S952*	USH2A_ENST00000366942.3_Nonsense_Mutation_p.S952*|USH2A_ENST00000307340.3_Nonsense_Mutation_p.S952*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	952	Laminin EGF-like 9.				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)		TGTATGGCATGAGCATGGCAG	0.393000										HNSCC(13;0.011)			18	63					6.49762e-13	1.14486e-12	0.006122	1	0
PDPR	55066	broad.mit.edu	37	16	70170214	70170214	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:70170214C>T	ENST00000288050.4	+	10	2072	c.1115C>T	c.(1114-1116)tCt>tTt	p.S372F	PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000398122.3_Missense_Mutation_p.S272F|PDPR_ENST00000568530.1_Missense_Mutation_p.S372F	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	372					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ATGGGCGAGTCTCCTGCAGTG	0.512000													5	39					0	0	0.001984	0	0
ITIH2	3698	broad.mit.edu	37	10	7771952	7771952	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:7771952G>T	ENST00000358415.4	+	12	1483	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	ITIH2_ENST00000379587.4_Missense_Mutation_p.K428N	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	439	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AAAACGTTAAGGAGAACATCC	0.358000													15	25					0.000422831	0.000514653	0.004007	1	0
LMO7	4008	broad.mit.edu	37	13	76382280	76382280	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:76382280G>A	ENST00000357063.3	+	11	3277	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	LMO7_ENST00000526202.1_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.E388K|LMO7_ENST00000377534.3_Missense_Mutation_p.E673K|LMO7_ENST00000465261.2_Missense_Mutation_p.E388K			Q8WWI1	LMO7_HUMAN	LIM domain 7	673						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GAAGAGATGGGAGGCCATCCG	0.532000													7	52					0	0	0.003080	0	0
PRUNE2	158471	broad.mit.edu	37	9	79325100	79325100	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:79325100C>G	ENST00000428286.1	-	8	2213	c.1013G>C	c.(1012-1014)aGa>aCa	p.R338T	PRUNE2_ENST00000376718.3_Missense_Mutation_p.R697T			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	697					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ATCTGAGGCTCTCCTATCAAT	0.443000													11	23					0	0	0.001368	0	0
ADGRG1	9289	broad.mit.edu	37	16	57689862	57689862	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:57689862C>G	ENST00000562631.1	+	7	1507	c.975C>G	c.(973-975)ctC>ctG	p.L325L	GPR56_ENST00000562558.1_Silent_p.L325L|GPR56_ENST00000388812.4_Silent_p.L325L|GPR56_ENST00000544297.1_Silent_p.L150L|GPR56_ENST00000388813.5_Silent_p.L325L|GPR56_ENST00000540164.2_Silent_p.L325L|GPR56_ENST00000538815.1_Silent_p.L325L|GPR56_ENST00000456916.1_Silent_p.L325L|GPR56_ENST00000568908.1_Silent_p.L325L|GPR56_ENST00000379694.4_Silent_p.L155L|GPR56_ENST00000568909.1_Silent_p.L325L|GPR56_ENST00000379696.3_Silent_p.L325L|GPR56_ENST00000567835.1_Silent_p.L325L			Q9Y653	GPR56_HUMAN	G protein-coupled receptor 56	325					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						TAGCCAACCTCACGGAGCCCG	0.567000													4	108					0	0	0.000248	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913554	77913554	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:77913554C>A	ENST00000321110.1	-	2	659	c.364G>T	c.(364-366)Gag>Tag	p.E122*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	122	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTCTGGGACTCCCGGGTTGCT	0.627000													9	10					0.000274275	0.000335034	0.004482	1	0
FAM171A1	221061	broad.mit.edu	37	10	15256342	15256342	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:15256342G>C	ENST00000378116.4	-	8	1251	c.1245C>G	c.(1243-1245)ctC>ctG	p.L415L	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	415						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGGAGAGCTTGAGCATGGGGG	0.582000													3	75					0	0	0.004672	0	0
PRPF4	9128	broad.mit.edu	37	9	116044941	116044941	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:116044941C>G	ENST00000374199.4	+	4	809	c.408C>G	c.(406-408)ctC>ctG	p.L136L	PRPF4_ENST00000488937.1_3'UTR|PRPF4_ENST00000374198.4_Silent_p.L137L			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	137						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GAAATATCCTCTCAGTTGTCG	0.303000													3	38					0	0	0.000602	0	0
HOXA5	3202	broad.mit.edu	37	7	27182767	27182767	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:27182767G>T	ENST00000222726.3	-	1	520	c.460C>A	c.(460-462)Cct>Act	p.P154T	HOXA-AS3_ENST00000521197.1_RNA|HOXA-AS3_ENST00000518848.1_RNA|HOXA3_ENST00000467897.2_Intron	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	154					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						CTGCTGGCAGGGGCGTCCTCC	0.706000													13	65					1.5842e-08	2.41892e-08	0.001855	1	0
SHOX2	6474	broad.mit.edu	37	3	157823666	157823666	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:157823666C>T	ENST00000389589.4	-	1	283	c.148G>A	c.(148-150)Gac>Aac	p.D50N	RSRC1_ENST00000480820.1_5'UTR|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000483851.2_Missense_Mutation_p.D50N|SHOX2_ENST00000441443.2_5'UTR|SHOX2_ENST00000425436.3_Missense_Mutation_p.D50N	NM_003030.4	NP_003021.3	O60902	SHOX2_HUMAN	short stature homeobox 2	50					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			CTGCTGCGGTCGTCGCGGCCC	0.766000													3	7					0	0	0.004672	0	0
C15orf32	145858	broad.mit.edu	37	15	93015532	93015532	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:93015532T>A	ENST00000333334.2	+	1	649	c.154T>A	c.(154-156)Tgg>Agg	p.W52R	C15orf32_ENST00000556865.1_Missense_Mutation_p.W52R	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	52										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			GCCATGTGTCTGGACCCTGTG	0.498000													19	96					0	0	0.001216	0	0
ASTL	431705	broad.mit.edu	37	2	96795583	96795583	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:96795583C>A	ENST00000342380.2	-	8	853	c.854G>T	c.(853-855)gGc>gTc	p.G285V		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	285					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGCCTGGGGCCACTTGGGCT	0.622000													12	45					5.50884e-06	7.46571e-06	0.001368	1	0
ACPL2	92370	broad.mit.edu	37	3	140997196	140997196	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:140997196C>T	ENST00000508812.1	+	2	1972	c.65C>T	c.(64-66)cCg>cTg	p.P22L	RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000502783.1_5'UTR|ACPL2_ENST00000393007.1_Missense_Mutation_p.P15L|ACPL2_ENST00000504264.1_Missense_Mutation_p.P14L|ACPL2_ENST00000286353.4_Missense_Mutation_p.P31L|ACPL2_ENST00000393010.2_Missense_Mutation_p.P31L			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	31						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CACCTGATCCCGGTGTCGACT	0.567000													10	36					0	0	0.006214	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718335	142718335	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:142718335C>A	ENST00000381779.4	-	2	815	c.590G>T	c.(589-591)gGg>gTg	p.G197V	SLITRK4_ENST00000338017.4_Missense_Mutation_p.G197V|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G197V	NM_001184749.1|NM_001184750.1|NM_173078.3	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	197						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCAGAACCCCGATATAAGG	0.438000													26	48					1.85244e-09	2.94059e-09	0.003330	1	0
SLC25A36	55186	broad.mit.edu	37	3	140689777	140689777	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:140689777G>C	ENST00000446041.2	+	5	619	c.394G>C	c.(394-396)Gca>Cca	p.A132P	SLC25A36_ENST00000324194.6_Missense_Mutation_p.A132P|SLC25A36_ENST00000453248.2_Missense_Mutation_p.A106P	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	132					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						AGGTTTTACTGCAATCACAGC	0.294000													11	37					0	0	0.001368	0	0
GLT1D1	144423	broad.mit.edu	37	12	129373192	129373192	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:129373192A>G	ENST00000442111.2	+	3	314	c.226A>G	c.(226-228)Atc>Gtc	p.I76V	GLT1D1_ENST00000281703.6_Missense_Mutation_p.I76V|GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Missense_Mutation_p.I65V			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	76					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AGGCCACCGAATCCCTTTTGG	0.453000													6	31					0	0	0.003080	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192749	132192749	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:132192749G>T	ENST00000359827.3	-	2	1666	c.704C>A	c.(703-705)aCc>aAc	p.T235N	PLXNA4_ENST00000378539.5_Missense_Mutation_p.T235N|PLXNA4_ENST00000423507.2_Missense_Mutation_p.T235N|PLXNA4_ENST00000321063.4_Missense_Mutation_p.T235N			Q9HCM2	PLXA4_HUMAN	plexin A4	235	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGGGATGATGGTGAAGGTGTC	0.488000													22	58					2.52088e-20	4.96879e-20	0.002780	1	0
MARK2	2011	broad.mit.edu	37	11	63671564	63671564	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:63671564A>T	ENST00000402010.2	+	15	2200	c.1621A>T	c.(1621-1623)Aac>Tac	p.N541Y	MARK2_ENST00000513765.2_Missense_Mutation_p.N508Y|MARK2_ENST00000377809.4_Missense_Mutation_p.N541Y|MARK2_ENST00000408948.3_Intron|MARK2_ENST00000502399.3_Missense_Mutation_p.N540Y|MARK2_ENST00000413835.2_Intron|MARK2_ENST00000377810.3_Intron|MARK2_ENST00000315032.8_Missense_Mutation_p.N541Y|MARK2_ENST00000350490.7_Intron|MARK2_ENST00000361128.5_Intron|MARK2_ENST00000508192.1_Intron|MARK2_ENST00000425897.2_Intron|MARK2_ENST00000509502.2_Missense_Mutation_p.N507Y	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	541					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CGTGCACCCCAACAAGGCCTC	0.697000													4	15					0	0	0.000248	0	0
IGKV1D-43	28891	broad.mit.edu	37	2	90249169	90249169	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:90249169C>A	ENST00000468879.1	+	0	306																											GACAGAGTCACCATCACTTGC	0.473000													26	195					7.92952e-12	1.36192e-11	0.003954	1	0
OR10G8	219869	broad.mit.edu	37	11	123900548	123900548	+	Silent	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:123900548T>G	ENST00000431524.1	+	1	252	c.219T>G	c.(217-219)acT>acG	p.T73T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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)		GGTTCTCCACTGTCACGGTGC	0.512000													31	112					0	0	0.001786	0	0
COL5A1	1289	broad.mit.edu	37	9	137688228	137688228	+	Silent	SNP	C	C	T	rs142849628		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:137688228C>T	ENST00000371817.3	+	35	3222	c.2808C>T	c.(2806-2808)tcC>tcT	p.S936S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	936	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGGCAACTCCGGAGGTGACG	0.572000													7	63					0	0	0.001984	0	0
CD8A	925	broad.mit.edu	37	2	87017548	87017548	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:87017548C>G	ENST00000409511.2	-	5	1336	c.306G>C	c.(304-306)ctG>ctC	p.L102L	CD8A_ENST00000538832.1_Silent_p.L143L|CD8A_ENST00000456996.2_Silent_p.L102L|CD8A_ENST00000283635.3_Silent_p.L102L|CD8A_ENST00000352580.3_Silent_p.L102L|CD8A_ENST00000409781.1_Silent_p.L102L	NM_001145873.1	NP_001139345.1	P01732	CD8A_HUMAN	CD8a molecule	102	Ig-like V-type.				antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GGAAGTCGCTCAGGGTGAGGA	0.607000													5	79					0	0	0.000602	0	0
SDK1	221935	broad.mit.edu	37	7	4089047	4089047	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:4089047G>C	ENST00000404826.2	+	18	2809	c.2670G>C	c.(2668-2670)tgG>tgC	p.W890C	SDK1_ENST00000389531.3_Missense_Mutation_p.W890C	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	890	Fibronectin type-III 3.				cell adhesion	integral to membrane		p.W890*(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGTTCCTGTGGAACCCTCCGC	0.592000													9	33					0	0	0.008291	0	0
ITGA6	3655	broad.mit.edu	37	2	173352066	173352066	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:173352066C>A	ENST00000375221.2	+	16	2365	c.2162C>A	c.(2161-2163)cCt>cAt	p.P721H	ITGA6_ENST00000409532.1_Missense_Mutation_p.P563H|ITGA6_ENST00000409080.1_Missense_Mutation_p.P682H|ITGA6_ENST00000343713.4_Missense_Mutation_p.P677H|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Missense_Mutation_p.P721H|ITGA6_ENST00000264107.7_Missense_Mutation_p.P682H			P23229	ITA6_HUMAN	integrin, alpha 6	721					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACAAACAGCCCTTCCAACCCA	0.378000													8	66					0.00307968	0.00360664	0.003080	1	0
LRRC8C	84230	broad.mit.edu	37	1	90178811	90178811	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:90178811G>C	ENST00000370454.4	+	3	937	c.682G>C	c.(682-684)Ggg>Cgg	p.G228R	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646.2	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	228						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		ATCCACTGCAGGGGCTCTGGA	0.453000													7	51					0	0	0.001984	0	0
C11orf71	54494	broad.mit.edu	37	11	114270819	114270819	+	Missense_Mutation	SNP	C	C	A	rs1051890		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:114270819C>A	ENST00000325636.4	-	1	320	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	RBM7_ENST00000540163.1_5'UTR	NM_019021.2	NP_061894.2	Q6IPW1	CK071_HUMAN	chromosome 11 open reading frame 71	79										large_intestine(3)|lung(1)	4		all_cancers(61;1.15e-11)|all_epithelial(67;5.3e-06)|all_hematologic(158;0.000303)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.6e-06)|Epithelial(105;4.31e-05)|all cancers(92;0.00036)		CCCCGGCCATCTGGTTCCCTT	0.627000													15	48					3.27435e-08	4.93326e-08	0.002450	1	0
GRM8	2918	broad.mit.edu	37	7	126883160	126883160	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:126883160G>A	ENST00000339582.2	-	2	907	c.99C>T	c.(97-99)agC>agT	p.S33S	GRM8_ENST00000358373.3_Silent_p.S33S|GRM8_ENST00000444921.2_Silent_p.S33S|GRM8_ENST00000405249.1_Silent_p.S33S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	33					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CATACTCCTGGCTGTGAGTTC	0.532000										HNSCC(24;0.065)			21	79					0	0	0.001882	0	0
SF3A1	10291	broad.mit.edu	37	22	30736319	30736319	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:30736319G>T	ENST00000439242.1	-	9	1177	c.1046C>A	c.(1045-1047)cCc>cAc	p.P349H	SF3A1_ENST00000215793.7_Missense_Mutation_p.P414H	NM_001005409.1	NP_001005409.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	414					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCCAGTAATGGGGGACACAAG	0.562000													31	37					1.99505e-19	3.89292e-19	0.002445	1	0
FGD1	2245	broad.mit.edu	37	X	54497780	54497780	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:54497780G>T	ENST00000375135.3	-	2	1181	c.448C>A	c.(448-450)Cca>Aca	p.P150T		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	150	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CGCTTCAGTGGTGAAGGACGC	0.627000													19	43					5.26018e-13	9.31647e-13	0.001882	1	0
FAM171B	165215	broad.mit.edu	37	2	187627079	187627079	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:187627079C>A	ENST00000304698.5	+	8	2213	c.2010C>A	c.(2008-2010)ccC>ccA	p.P670P		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	670						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						CCCCGCATCCCAGAGCCTGGT	0.483000													25	95					7.87624e-14	1.41897e-13	0.002780	1	0
F5	2153	broad.mit.edu	37	1	169510154	169510154	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:169510154G>A	ENST00000367796.3	-	13	4390	c.4189C>T	c.(4189-4191)Ccc>Tcc	p.P1397S	F5_ENST00000367797.3_Missense_Mutation_p.P1392S			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1392	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		L -> F (in dbSNP:rs13306334).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	GCAAAGAGGGGCATCTCACTG	0.512000													43	212					0	0	0.007835	0	0
LRRC28	123355	broad.mit.edu	37	15	99901651	99901651	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:99901651A>G	ENST00000301981.3	+	8	1046	c.806A>G	c.(805-807)cAc>cGc	p.H269R	LRRC28_ENST00000442993.2_3'UTR|LRRC28_ENST00000558879.1_Intron|LRRC28_ENST00000447360.2_Missense_Mutation_p.H269R|LRRC28_ENST00000331450.5_Intron|LRRC28_ENST00000422500.2_Missense_Mutation_p.H200R	NM_144598.2	NP_653199.2	Q86X40	LRC28_HUMAN	leucine rich repeat containing 28	269										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			GAGCATGATCACGTCCTCCCT	0.507000											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	80					0	0	0.002096	0	0
CHRM3	1131	broad.mit.edu	37	1	240072433	240072433	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:240072433G>T	ENST00000255380.4	+	5	2461	c.1682G>T	c.(1681-1683)tGc>tTc	p.C561F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	561					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CTGCTGCTGTGCCAGTGTGAC	0.517000													14	38					0.00185496	0.00220266	0.001855	1	0
RCOR3	55758	broad.mit.edu	37	1	211487016	211487016	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:211487016G>T	ENST00000367005.4	+	11	1535	c.1394G>T	c.(1393-1395)cGt>cTt	p.R465L	RCOR3_ENST00000419091.2_Missense_Mutation_p.R523L|RCOR3_ENST00000367006.4_3'UTR|RCOR3_ENST00000526255.1_3'UTR	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	465	Pro-rich.				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)		ATGCCACCCCGTCTAAACCCA	0.522000													5	68					0.000602214	0.000722021	0.000602	1	0
ZUFSP	221302	broad.mit.edu	37	6	116956996	116956996	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:116956996C>T	ENST00000368576.3	-	10	1979	c.1736G>A	c.(1735-1737)tGa>tAa	p.*579*		NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	0						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CTTGATTCTTCAAGGAATCTT	0.294000													12	67					0	0	0.001855	0	0
CPSF6	11052	broad.mit.edu	37	12	69653891	69653891	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:69653891T>C	ENST00000435070.2	+	8	1493	c.1383T>C	c.(1381-1383)tcT>tcC	p.S461S	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000266679.8_Silent_p.S498S|CPSF6_ENST00000456847.3_Silent_p.S388S	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	461					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			CCAAAGTATCTGCTGATGATC	0.383000													11	46					0	0	0.008291	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88885094	88885094	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:88885094G>T	ENST00000319675.3	-	1	1202	c.1106C>A	c.(1105-1107)tCt>tAt	p.S369Y		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	369										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GAGGCGAGAAGAGAAGGCCAC	0.587000													13	53					1.36491e-13	2.43964e-13	0.001855	1	0
COL5A2	1290	broad.mit.edu	37	2	189917697	189917697	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:189917697T>A	ENST00000374866.3	-	39	2875	c.2601A>T	c.(2599-2601)ggA>ggT	p.G867G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	867					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)			CTCCCTTCTGTCCTGGCTCTC	0.433000													12	38					0	0	0.002450	0	0
SOX5	6660	broad.mit.edu	37	12	23793749	23793749	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:23793749C>A	ENST00000546136.1	-	7	977	c.975G>T	c.(973-975)ctG>ctT	p.L325L	SOX5_ENST00000541536.1_Silent_p.L325L|SOX5_ENST00000451604.2_Silent_p.L338L|SOX5_ENST00000381381.2_Silent_p.L325L|SOX5_ENST00000545921.1_Silent_p.L328L|SOX5_ENST00000537393.1_Silent_p.L303L|SOX5_ENST00000309359.1_Silent_p.L325L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	338					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GACTTACCTGCAGTTGGAGTG	0.433000													18	123					3.70931e-20	7.3007e-20	0.006122	1	0
MUC4	4585	broad.mit.edu	37	3	195517450	195517450	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:195517450C>G	ENST00000463781.3	-	2	1460	c.1001G>C	c.(1000-1002)aGa>aCa	p.R334T	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.R334T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	339					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)		TTGAGATACTCTGGTGGTCTC	0.463000													4	208					0	0	0.000248	0	0
ZNF521	25925	broad.mit.edu	37	18	22804769	22804769	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:22804769T>A	ENST00000361524.3	-	4	3261	c.3113A>T	c.(3112-3114)cAt>cTt	p.H1038L	ZNF521_ENST00000538137.2_Missense_Mutation_p.H1038L|ZNF521_ENST00000584787.1_Missense_Mutation_p.H818L	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	1038					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAACGTCCCATGGATTTTGAG	0.537000			T	PAX5	ALL								11	28					0	0	0.000978	0	0
SCRN1	9805	broad.mit.edu	37	7	29980355	29980355	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:29980355G>C	ENST00000426154.1	-	5	858	c.682C>G	c.(682-684)Cca>Gca	p.P228A	SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000409497.1_Missense_Mutation_p.P228A|SCRN1_ENST00000242059.5_Missense_Mutation_p.P228A	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	228					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						TCCTCAACTGGAGAAAAGACT	0.488000													4	100					0	0	0.000602	0	0
FOXD3	27022	broad.mit.edu	37	1	63789224	63789224	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:63789224C>G	ENST00000371116.2	+	1	495	c.495C>G	c.(493-495)agC>agG	p.S165R	RP4-792G4.2_ENST00000427268.1_RNA|RP4-792G4.2_ENST00000431294.1_RNA	NM_012183.2	NP_036315.1	Q9UJU5	FOXD3_HUMAN	forkhead box D3	165					axon extension involved in axon guidance|branching involved in ureteric bud morphogenesis|cartilage development|embryonic placenta development|enteric nervous system development|iridophore differentiation|kidney development|lateral line nerve glial cell development|melanocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development|trophectodermal cell differentiation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|lung(2)|upper_aerodigestive_tract(1)	5						TGACCCTGAGCGGCATCTGCG	0.587000													13	77					0	0	0.001855	0	0
TGIF2LX	90316	broad.mit.edu	37	X	89177312	89177312	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:89177312C>A	ENST00000561129.2	+	1	358	c.228C>A	c.(226-228)gcC>gcA	p.A76A	TGIF2LX_ENST00000283891.5_Silent_p.A76A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	76						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GGTTTAAGGCCTACCCTTCAG	0.468000													22	57					3.11337e-16	5.81676e-16	0.002836	1	0
MTG1	92170	broad.mit.edu	37	10	135213068	135213068	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:135213068C>G	ENST00000468317.2	+	7	726	c.471C>G	c.(469-471)ccC>ccG	p.P157P	MTG1_ENST00000317502.6_Silent_p.P152P|MTG1_ENST00000477902.2_Silent_p.P111P																							TTGGGGTCCCCAACGTGGGCA	0.622000													15	50					0	0	0.003163	0	0
FAM91A1	157769	broad.mit.edu	37	8	124801879	124801879	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:124801879A>T	ENST00000334705.7	+	15	1551	c.1305A>T	c.(1303-1305)gcA>gcT	p.A435A	FAM91A1_ENST00000521166.1_Silent_p.A435A	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	435										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			AAGGAGAAGCACAGAGATATT	0.378000													18	68					0	0	0.001523	0	0
ZP4	57829	broad.mit.edu	37	1	238048716	238048716	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:238048716G>A	ENST00000366570.4	-	8	1293	c.1135C>T	c.(1135-1137)Cca>Tca	p.P379S	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	379	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGCCACTGTGGCTGACTCAGG	0.537000													11	55					0	0	0.000978	0	0
RBL2	5934	broad.mit.edu	37	16	53501044	53501044	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:53501044G>T	ENST00000262133.6	+	14	2075	c.1938G>T	c.(1936-1938)gtG>gtT	p.V646V	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	646	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAGAAGGGTGACTGAAGTTC	0.418000													9	100					2.17888e-05	2.84528e-05	0.006214	1	0
LOC645166	645166	broad.mit.edu	37	1	148932857	148932857	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:148932857C>A	ENST00000539543.1	+	0	113					NR_027355.1																						CATCCAGTACCAAGAGTTGGT	0.617000													10	150					0.00829132	0.00954588	0.008291	1	0
BOD1L1	259282	broad.mit.edu	37	4	13604345	13604345	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:13604345C>A	ENST00000040738.5	-	10	4314	c.4179G>T	c.(4177-4179)gtG>gtT	p.V1393V		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1393							DNA binding										TTTCCACAATCACGCCCGTTA	0.398000													29	99					1.88708e-17	3.57968e-17	0.008361	1	0
COL13A1	1305	broad.mit.edu	37	10	71678040	71678040	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:71678040G>T	ENST00000356340.3	+	18	1532		c.e18-1		COL13A1_ENST00000398968.3_Splice_Site|COL13A1_ENST00000517713.1_Splice_Site|COL13A1_ENST00000398978.3_Splice_Site|COL13A1_ENST00000520267.1_Splice_Site|COL13A1_ENST00000357811.3_Splice_Site|COL13A1_ENST00000398972.3_Splice_Site|COL13A1_ENST00000398971.3_Splice_Site|COL13A1_ENST00000398966.3_Splice_Site|COL13A1_ENST00000398973.3_Splice_Site|COL13A1_ENST00000398964.3_Splice_Site|COL13A1_ENST00000520133.1_Splice_Site|COL13A1_ENST00000522165.1_Splice_Site|COL13A1_ENST00000354547.3_Splice_Site|COL13A1_ENST00000398974.3_Splice_Site|COL13A1_ENST00000398969.3_Splice_Site			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1						cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	CTCTCTGCCAGGGGGCGCCCG	0.602000													13	30					7.03913e-09	1.0907e-08	0.001368	1	0
SNHG14	104472715	broad.mit.edu	37	15	25432711	25432711	+	RNA	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:25432711T>G	ENST00000424208.1	+	0	761				SNORD115-10_ENST00000365073.1_RNA	NR_003305.1																						TTATATTGTCTGAAGAGAGGT	0.517000													49	215					0	0	0.003610	0	0
CCKBR	887	broad.mit.edu	37	11	6292011	6292011	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:6292011C>A	ENST00000525462.1	+	4	792	c.789C>A	c.(787-789)gtC>gtA	p.V263V	CCKBR_ENST00000532715.1_Silent_p.V179V|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Silent_p.V263V			P32239	GASR_HUMAN	cholecystokinin B receptor	214					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAAGCAGGGTCCGAAACCAAG	0.642000													17	35					6.94344e-10	1.12049e-09	0.006122	1	0
ASCC3	10973	broad.mit.edu	37	6	100960596	100960596	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:100960596C>A	ENST00000369162.2	-	40	6618	c.6274G>T	c.(6274-6276)Ggg>Tgg	p.G2092W		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2092					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTGTGGAACCCAAAGTGGACT	0.433000													17	52					1.5739e-10	2.59836e-10	0.004007	1	0
LAMB4	22798	broad.mit.edu	37	7	107688526	107688526	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:107688526C>A	ENST00000388781.3	-	28	4236	c.4153G>T	c.(4153-4155)Gtg>Ttg	p.V1385L	LAMB4_ENST00000388780.3_Missense_Mutation_p.V1385L|LAMB4_ENST00000205386.4_Missense_Mutation_p.V1385L	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1385	Domain alpha.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGCAAGGGCACACATGGCACA	0.502000													26	130					1.17739e-12	2.05855e-12	0.005443	1	0
TRIM49C	642612	broad.mit.edu	37	11	89774425	89774425	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:89774425G>T	ENST00000448984.1	+	8	1395	c.1066G>T	c.(1066-1068)Ggt>Tgt	p.G356C	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	356	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						TTGGGCTTTTGGTGTCTGTAA	0.433000													18	34					2.48551e-13	4.42517e-13	0.004990	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144866652	144866652	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:144866652T>C	ENST00000369359.4	-	37	6036	c.5998A>G	c.(5998-6000)Atc>Gtc	p.I2000V	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.I1949V|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.I1864V|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.I1758V|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.I1864V			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1864					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)		CGGTCATTGATGCAGATGGAT	0.577000			T	PDGFRB	MPD								38	254					0	0	0.005524	0	0
GPR37	2861	broad.mit.edu	37	7	124404327	124404327	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:124404327G>A	ENST00000303921.2	-	1	1354	c.704C>T	c.(703-705)cCc>cTc	p.P235L		NM_005302.2	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	235						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCCCCGGCGGGGACCCCCAGG	0.632000													6	41					0	0	0.001168	0	0
OR8K1	390157	broad.mit.edu	37	11	56114262	56114262	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:56114262C>A	ENST00000279783.2	+	1	842	c.748C>A	c.(748-750)Cat>Aat	p.H250N		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CTGTAGCTCTCATCTGACAGT	0.408000										HNSCC(65;0.19)			16	48					6.31663e-08	9.41274e-08	0.003163	1	0
SCRN1	9805	broad.mit.edu	37	7	29980412	29980412	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:29980412G>C	ENST00000426154.1	-	5	801	c.625C>G	c.(625-627)Cag>Gag	p.Q209E	SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000409497.1_Missense_Mutation_p.Q209E|SCRN1_ENST00000242059.5_Missense_Mutation_p.Q209E	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	209					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						CCTTGGCTCTGAGCGTAACTC	0.527000													3	131					0	0	0.000602	0	0
CTTN	2017	broad.mit.edu	37	11	70253623	70253623	+	Splice_Site	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:70253623G>C	ENST00000301843.8	+	4	293		c.e4-1		CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000527622.1_Splice_Site|CTTN_ENST00000346329.3_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin							cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TTTCTTTTCAGAATGATGTGA	0.527000													20	89					0	0	0.001523	0	0
IGFN1	91156	broad.mit.edu	37	1	201196296	201196296	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:201196296G>T	ENST00000335211.4	+	23	11203	c.11073G>T	c.(11071-11073)acG>acT	p.T3691T	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTGAGAACACGCTGGGCCAGG	0.637000													3	12					0.004672	0.00542941	0.004672	1	0
FAM120C	54954	broad.mit.edu	37	X	54161374	54161374	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:54161374A>G	ENST00000375180.2	-	7	1562	c.1506T>C	c.(1504-1506)tcT>tcC	p.S502S	FAM120C_ENST00000328235.4_Silent_p.S502S	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	502										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACTGGGATGCAGAAGAGTCAT	0.517000													13	28					0	0	0.001855	0	0
LHX5	64211	broad.mit.edu	37	12	113906943	113906943	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:113906943C>G	ENST00000261731.3	-	2	954	c.381G>C	c.(379-381)gaG>gaC	p.E127D		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	127						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TGAGGCTGCCCTCCTTGAGGC	0.607000													4	13					0	0	0.000602	0	0
NRCAM	4897	broad.mit.edu	37	7	107823167	107823167	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:107823167A>T	ENST00000379028.3	-	23	2972	c.2502T>A	c.(2500-2502)gcT>gcA	p.A834A	NRCAM_ENST00000413765.2_Silent_p.A815A|NRCAM_ENST00000425651.2_Silent_p.A834A|NRCAM_ENST00000379024.4_Silent_p.A815A|NRCAM_ENST00000379022.4_Silent_p.A834A|NRCAM_ENST00000351718.4_Silent_p.A818A			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	834	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCATGACTACAGCTGGCTCGG	0.483000													10	46					0	0	0.008291	0	0
SLC29A4	222962	broad.mit.edu	37	7	5327577	5327577	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:5327577G>A	ENST00000396872.2	+	2	291	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	SLC29A4_ENST00000297195.4_Missense_Mutation_p.G44S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.G44S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	44					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TCAGGGCCAGGGCCTTAGGGC	0.667000													6	30					0	0	0.003080	0	0
OR56A3	390083	broad.mit.edu	37	11	5969313	5969313	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5969313G>T	ENST00000329564.6	+	1	744	c.737G>T	c.(736-738)gGc>gTc	p.G246V		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCACATGTGGCTCCCACTTC	0.517000													49	148					6.14515e-18	1.18216e-17	0.003610	1	0
KRT36	8689	broad.mit.edu	37	17	39645944	39645944	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:39645944C>G	ENST00000393986.2	-	2	235	c.23G>C	c.(22-24)gGc>gCc	p.G8A	KRT36_ENST00000328119.6_Missense_Mutation_p.G58A			O76013	KRT36_HUMAN	keratin 36	58	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GCTCCCAAGGCCAGAGAGGCC	0.637000													17	70					0	0	0.004990	0	0
SSTR5	6755	broad.mit.edu	37	16	1129561	1129561	+	Silent	SNP	G	G	A	rs35804776	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:1129561G>A	ENST00000293897.4	+	1	781	c.693G>A	c.(691-693)gcG>gcA	p.A231A	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Silent_p.A231A	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	231					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGAGGGCGGCGGGCGTGCGCG	0.667000													9	20					0	0	0.004482	0	0
TRBV7-7	28591	broad.mit.edu	37	7	142120083	142120083	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:142120083C>A	ENST00000390377.1	-	0	83																											TGACTTTGTACCTGGGAGACT	0.488000													8	25					5.4927e-09	8.54978e-09	0.004482	1	0
LIPG	9388	broad.mit.edu	37	18	47101900	47101900	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:47101900G>T	ENST00000261292.4	+	5	1011	c.733G>T	c.(733-735)Ggg>Tgg	p.G245W	LIPG_ENST00000577628.1_Missense_Mutation_p.G281W|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Missense_Mutation_p.G245W	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	245					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CTACCCCAATGGGGGTGACTT	0.493000													6	21					0.000157383	0.000193987	0.003080	1	0
ITGAX	3687	broad.mit.edu	37	16	31391338	31391338	+	Silent	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:31391338A>T	ENST00000268296.4	+	26	3133	c.3012A>T	c.(3010-3012)gcA>gcT	p.A1004A	ITGAX_ENST00000562522.1_Silent_p.A1004A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1004					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						AGAAAATCGCACCCCCAGCAT	0.577000													4	37					0	0	0.000602	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33945119	33945119	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:33945119G>T	ENST00000361328.3	+	2	383	c.230G>T	c.(229-231)tGt>tTt	p.C77F	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.C77F|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	77	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GCTCTCTGCTGTCGTTGGCTG	0.617000													5	43					1.23904e-05	1.64001e-05	0.000602	1	0
OR10A6	390093	broad.mit.edu	37	11	7950041	7950041	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:7950041C>A	ENST00000309838.2	-	1	168	c.169G>T	c.(169-171)Gtt>Ttt	p.V57F		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACATGGGAACGTGGAGGCTC	0.468000													37	82					6.5261e-18	1.25367e-17	0.008740	1	0
AASDH	132949	broad.mit.edu	37	4	57221417	57221417	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:57221417C>A	ENST00000205214.6	-	6	1214	c.1034G>T	c.(1033-1035)gGt>gTt	p.G345V	AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.G345V|AASDH_ENST00000513376.1_Missense_Mutation_p.G245V|AASDH_ENST00000602986.1_Missense_Mutation_p.G192V|AASDH_ENST00000502617.1_Missense_Mutation_p.G345V	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	345					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTCTGTGATACCATAAACATT	0.393000													25	43					5.35356e-11	8.94668e-11	0.002780	1	0
COL6A5	256076	broad.mit.edu	37	3	130095164	130095164	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:130095164C>A	ENST00000265379.6	+	3	646	c.152C>A	c.(151-153)aCg>aAg	p.T51K	COL6A5_ENST00000432398.2_Missense_Mutation_p.T51K			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	51	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTCGTGAAAACGTTCATCAAC	0.478000													21	67					1.00905e-13	1.80832e-13	0.001216	1	0
DKK2	27123	broad.mit.edu	37	4	107845822	107845822	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:107845822G>T	ENST00000285311.3	-	3	1114	c.409C>A	c.(409-411)Cct>Act	p.P137T	DKK2_ENST00000510463.1_Missense_Mutation_p.P91T|DKK2_ENST00000513208.1_Missense_Mutation_p.P37T	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	137					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GGGATGTGAGGGGTTAAGATG	0.433000													5	93					8.12818e-05	0.000102127	0.001984	1	0
HEXA	3073	broad.mit.edu	37	15	72648940	72648940	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:72648940T>C	ENST00000268097.5	-	2	775	c.272A>G	c.(271-273)gAg>gGg	p.E91G	HEXA_ENST00000457859.2_5'UTR|HEXA_ENST00000429918.2_5'UTR|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Missense_Mutation_p.E91G|HEXA_ENST00000566304.1_Missense_Mutation_p.E102G	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	91					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						CACATTCTTCTCCAGTGTATG	0.493000													23	39					0	0	0.003330	0	0
KRT20	54474	broad.mit.edu	37	17	39036369	39036369	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:39036369C>G	ENST00000167588.3	-	4	816	c.775G>C	c.(775-777)Gaa>Caa	p.E259Q		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	259	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TCAAACTGTTCTTTGGCCTCT	0.438000													4	112					0	0	0.000248	0	0
MACF1	23499	broad.mit.edu	37	1	39851375	39851375	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:39851375G>C	ENST00000564288.1	+	57	14895	c.14118G>C	c.(14116-14118)ctG>ctC	p.L4706L	MACF1_ENST00000372915.3_Silent_p.L4711L|MACF1_ENST00000289893.4_Silent_p.L3146L|MACF1_ENST00000361689.2_Silent_p.L2644L|MACF1_ENST00000317713.7_Silent_p.L2644L|MACF1_ENST00000545844.1_Silent_p.L2644L|MACF1_ENST00000539005.1_Silent_p.L2623L|MACF1_ENST00000567887.1_Silent_p.L4743L			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4711					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GACAACGGCTGAGTGTCCAGT	0.512000													7	45					0	0	0.003080	0	0
CAND2	23066	broad.mit.edu	37	3	12845083	12845083	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:12845083G>T	ENST00000456430.2	+	2	206	c.165G>T	c.(163-165)cgG>cgT	p.R55R	CAND2_ENST00000295989.5_Silent_p.R55R	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	55					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGCTGCTCCGGCTCCTGGAGG	0.617000													12	14					0.00010058	0.000125564	0.001368	1	0
MDH1	4190	broad.mit.edu	37	2	63832413	63832413	+	Splice_Site	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:63832413G>C	ENST00000233114.8	+	7	1110		c.e7-1		MDH1_ENST00000409476.1_Splice_Site|MDH1_ENST00000409908.1_Splice_Site|MDH1_ENST00000394423.1_Splice_Site|MDH1_ENST00000544381.1_Splice_Site|MDH1_ENST00000539945.1_Splice_Site	NM_005917.3	NP_005908.1	P40925	MDHC_HUMAN	malate dehydrogenase 1, NAD (soluble)						gluconeogenesis|tricarboxylic acid cycle	centrosome|cytosol	L-malate dehydrogenase activity|malic enzyme activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(4)	13					NADH(DB00157)	CCCCTTCCCAGACTGTGCAGC	0.512000													5	21					0	0	0.000602	0	0
KCNG1	3755	broad.mit.edu	37	20	49626434	49626434	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:49626434G>T	ENST00000371571.4	-	2	727	c.442C>A	c.(442-444)Cag>Aag	p.Q148K	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.Q148K	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	148						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						AGCTCCTCCTGGAAGGACAGC	0.652000													16	29					9.16793e-09	1.41093e-08	0.004990	1	0
VCAN	1462	broad.mit.edu	37	5	82816151	82816151	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:82816151C>G	ENST00000265077.3	+	7	2591	c.2026C>G	c.(2026-2028)Cta>Gta	p.L676V	VCAN_ENST00000342785.4_Missense_Mutation_p.L676V|VCAN_ENST00000512590.2_Missense_Mutation_p.L628V|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	676	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTATCCTTCTCTACAAACAGA	0.328000													21	35					0	0	0.001216	0	0
TTN	7273	broad.mit.edu	37	2	179466465	179466465	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179466465C>A	ENST00000589042.1	-	286	55576	c.55352G>T	c.(55351-55353)cGa>cTa	p.R18451L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16810L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9578L|TTN_ENST00000460472.2_Missense_Mutation_p.R9386L|TTN_ENST00000359218.5_Missense_Mutation_p.R9511L|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15883L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16810	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)			TGTATGAGATCGTTTACACTC	0.363000													18	99					1.33834e-09	2.12946e-09	0.007413	1	0
TNN	63923	broad.mit.edu	37	1	175067500	175067500	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:175067500C>A	ENST00000239462.4	+	9	2001	c.1888C>A	c.(1888-1890)Cgg>Agg	p.R630R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	630	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GGTGACTGACCGGGTGACAGA	0.532000													67	120					1.48005e-37	3.04046e-37	0.003610	1	0
FER1L6	654463	broad.mit.edu	37	8	124988193	124988193	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:124988193G>T	ENST00000522917.1	+	9	945	c.739G>T	c.(739-741)Gtg>Ttg	p.V247L	FER1L6_ENST00000399018.1_Missense_Mutation_p.V247L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	247	C2 2.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAGATTCTATGTGAGACTCTA	0.468000													21	158					1.9806e-07	2.89439e-07	0.002299	1	0
RASGEF1C	255426	broad.mit.edu	37	5	179564598	179564598	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:179564598G>T	ENST00000393371.2	-	2	588	c.292C>A	c.(292-294)Ctg>Atg	p.L98M	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.L98M			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	98	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTTGTCCAGCACCGGCTTG	0.652000													8	7					2.17888e-05	2.84528e-05	0.006214	1	0
GOLGB1	2804	broad.mit.edu	37	3	121433816	121433816	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:121433816G>C	ENST00000393667.3	-	10	1406	c.1296C>G	c.(1294-1296)ctC>ctG	p.L432L	GOLGB1_ENST00000340645.5_Silent_p.L427L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	427					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTTTTGCTGGAGCTGATCTA	0.318000													12	72					0	0	0.000978	0	0
SLC17A8	246213	broad.mit.edu	37	12	100796415	100796415	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:100796415G>T	ENST00000323346.5	+	8	1258	c.945G>T	c.(943-945)ccG>ccT	p.P315P	SLC17A8_ENST00000392989.3_Intron	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	315					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CATCTTTGCCGGTTTATGCAA	0.338000													27	61					4.22769e-11	7.12639e-11	0.006320	1	0
LRFN5	145581	broad.mit.edu	37	14	42356411	42356411	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:42356411C>A	ENST00000554171.1	+	5	3015	c.583C>A	c.(583-585)Cac>Aac	p.H195N	LRFN5_ENST00000298119.4_Missense_Mutation_p.H195N|LRFN5_ENST00000554120.1_Missense_Mutation_p.H195N			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	195						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCCCATTTGCACAAGATGAC	0.438000										HNSCC(30;0.082)			8	31					0.000157383	0.000193987	0.003080	1	0
ZAK	51776	broad.mit.edu	37	2	174131332	174131332	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:174131332G>T	ENST00000375213.3	+	20	2335	c.2257G>T	c.(2257-2259)Gac>Tac	p.D753Y	MLTK_ENST00000409176.2_Missense_Mutation_p.D753Y|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					CCCTGAGACTGACTCAAGAGC	0.557000													13	39					2.61681e-11	4.44402e-11	0.002450	1	0
PREX1	57580	broad.mit.edu	37	20	47273692	47273692	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:47273692G>T	ENST00000396220.1	-	18	2031	c.2009C>A	c.(2008-2010)tCc>tAc	p.S670Y	PREX1_ENST00000371941.3_Missense_Mutation_p.S670Y			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	670	PDZ.				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)			CTCATTGATGGAGTAGATCTT	0.617000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	23					0.000602214	0.000722021	0.000602	1	0
ZNF2	7549	broad.mit.edu	37	2	95847751	95847751	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:95847751C>T	ENST00000398107.2	+	4	1574	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ZNF2_ENST00000295210.6_Missense_Mutation_p.T355M|ZNF2_ENST00000340539.5_Missense_Mutation_p.T393M|ZNF2_ENST00000453539.2_Missense_Mutation_p.T406M|ZNF2_ENST00000425369.1_Missense_Mutation_p.T313M	NM_001017396.1	NP_001017396.1	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		CGTGTCCACACGGGAGAGAAG	0.507000													24	66					0	0	0.002299	0	0
MB21D2	151963	broad.mit.edu	37	3	192517414	192517414	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:192517414C>A	ENST00000392452.2	-	2	557	c.237G>T	c.(235-237)aaG>aaT	p.K79N		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	79										endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CCACTGGAAGCTTTTGGTCCA	0.448000													13	29					2.31682e-05	3.01098e-05	0.003163	1	0
LIMD1	8994	broad.mit.edu	37	3	45714995	45714995	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:45714995G>T	ENST00000273317.4	+	6	1843	c.1822G>T	c.(1822-1824)Gag>Tag	p.E608*	LIMD1_ENST00000440097.1_Nonsense_Mutation_p.E608*|LIMD1_ENST00000465039.1_3'UTR	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	608	LIM zinc-binding 3.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CCTTCCACCTGAGGTAAGATG	0.512000													23	69					0.00278032	0.00327578	0.002780	1	0
PRMT3	10196	broad.mit.edu	37	11	20429456	20429456	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:20429456G>T	ENST00000331079.6	+	9	988		c.e9-1		PRMT3_ENST00000437750.2_Splice_Site	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779.1	O60678	ANM3_HUMAN	protein arginine methyltransferase 3								zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						AATTACCCTAGGTAGTTTTGG	0.343000													28	63					1.04121e-07	1.54312e-07	0.005443	1	0
DCHS1	8642	broad.mit.edu	37	11	6648657	6648657	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:6648657C>A	ENST00000299441.3	-	14	6024	c.5613G>T	c.(5611-5613)ggG>ggT	p.G1871G		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1871	Cadherin 18.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCAGGGTCCCTGCAGGCA	0.607000													3	8					6.4e-05	8.11044e-05	0.004672	1	0
EP300	2033	broad.mit.edu	37	22	41489047	41489047	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:41489047C>G	ENST00000263253.7	+	1	1258	c.39C>G	c.(37-39)gcC>gcG	p.A13A		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	13	Interaction with ALX1.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CGCCTTCAGCCAAGCGGCCTA	0.547000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				6	101					0	0	0.001984	0	0
RGAG4	340526	broad.mit.edu	37	X	71351060	71351060	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:71351060G>C	ENST00000545866.1	-	1	698	c.331C>G	c.(331-333)Cgc>Ggc	p.R111G	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000479991.1_Missense_Mutation_p.R111G			Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	111										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GGGGTGCTGCGATCCTGGATC	0.692000													3	11					0	0	0.004672	0	0
ZAN	7455	broad.mit.edu	37	7	100349983	100349983	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:100349983C>A	ENST00000542585.1	+	0	2403				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_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)			ACAGAAAAACCCACCATCTCC	0.522000													19	65					8.00594e-06	1.08283e-05	0.007413	1	0
SLC8A1	6546	broad.mit.edu	37	2	40405545	40405545	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:40405545C>G	ENST00000542756.1	-	3	1920	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.E633Q|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000406785.1_Intron|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.E633Q|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000332839.4_Missense_Mutation_p.E633Q|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000406391.2_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	633					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCACTCATCTCCACCAGGCGG	0.512000													34	215					0	0	0.004289	0	0
IGKV1D-16	28901	broad.mit.edu	37	2	90139503	90139503	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:90139503G>T	ENST00000492446.1	+	0	301																											ATCTGGGACAGATTTCACTCT	0.488000													26	104					1.13205e-32	2.31508e-32	0.003610	1	0
SLC2A9	56606	broad.mit.edu	37	4	9828093	9828093	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:9828093C>T	ENST00000506583.1	-	14	1681	c.1464G>A	c.(1462-1464)agG>agA	p.R488R	SLC2A9_ENST00000264784.3_Silent_p.R517R|SLC2A9_ENST00000309065.3_Silent_p.R488R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	517					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGCTTTGTTCCTTTTGGAAA	0.423000													31	129					0	0	0.002445	0	0
SETX	23064	broad.mit.edu	37	9	135203189	135203189	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:135203189G>A	ENST00000372169.2	-	10	3978	c.3796C>T	c.(3796-3798)Cct>Tct	p.P1266S	SETX_ENST00000393220.1_Missense_Mutation_p.P1266S|SETX_ENST00000224140.5_Missense_Mutation_p.P1266S			Q7Z333	SETX_HUMAN	senataxin	1266					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTATAGCAGGAGTTGTTCTA	0.418000													10	161					0	0	0.000978	0	0
TSN	7247	broad.mit.edu	37	2	122519027	122519027	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:122519027C>G	ENST00000389682.3	+	4	547	c.300C>G	c.(298-300)ttC>ttG	p.F100L	TSN_ENST00000536142.1_Missense_Mutation_p.F100L|TSN_ENST00000409193.1_Missense_Mutation_p.F95L|TSN_ENST00000498545.1_Intron	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	100					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				GCTTGGTCTTCTTGGCAGCAT	0.428000													3	126					0	0	0.004672	0	0
SEMA5A	9037	broad.mit.edu	37	5	9122858	9122858	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:9122858A>T	ENST00000382496.5	-	14	2356	c.1691T>A	c.(1690-1692)cTc>cAc	p.L564H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	564	TSP type-1 1.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GGTTCGACAGAGGCAGGATCC	0.652000													7	127					0	0	0.003080	0	0
FIGN	55137	broad.mit.edu	37	2	164467883	164467883	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:164467883C>A	ENST00000333129.3	-	3	773	c.459G>T	c.(457-459)ggG>ggT	p.G153G	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'UTR	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	153						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGCTGGCTACCCCAGGAGAGC	0.527000													10	72					0.000442599	0.000535364	0.006214	1	0
HKR1	284459	broad.mit.edu	37	19	37854289	37854289	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:37854289G>T	ENST00000591471.1	+	9	2414	c.773G>T	c.(772-774)gGa>gTa	p.G258V	HKR1_ENST00000589392.1_Missense_Mutation_p.G513V|HKR1_ENST00000544914.1_Missense_Mutation_p.G258V|HKR1_ENST00000541583.2_Missense_Mutation_p.G470V|HKR1_ENST00000324411.4_Missense_Mutation_p.G531V|HKR1_ENST00000392153.3_Missense_Mutation_p.G512V|HKR1_ENST00000591134.1_Intron			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	531					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTGAGTGTGGACGAGGCTTT	0.522000													20	47					1.9806e-07	2.89439e-07	0.002299	1	0
CEP164	22897	broad.mit.edu	37	11	117265697	117265697	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:117265697G>C	ENST00000278935.3	+	22	2969	c.2822G>C	c.(2821-2823)aGa>aCa	p.R941T	CEP164_ENST00000533706.1_3'UTR	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	941	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GTCAAGGCCAGATTGGCTCTG	0.522000													29	99					0	0	0.008361	0	0
MUC2	4583	broad.mit.edu	37	11	1087978	1087978	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:1087978C>T	ENST00000441003.2	+	25	3480	c.3453C>T	c.(3451-3453)atC>atT	p.I1151I	MUC2_ENST00000359061.5_Silent_p.I1151I	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1151						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TCAACGGCATCCACTCCAACA	0.627000													3	12					0	0	0.000248	0	0
NMT1	4836	broad.mit.edu	37	17	43183001	43183001	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:43183001A>G	ENST00000592782.1	+	13	1616	c.1485A>G	c.(1483-1485)ctA>ctG	p.L495L	NMT1_ENST00000258960.2_Silent_p.L495L			P30419	NMT1_HUMAN	N-myristoyltransferase 1	495					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				GACTGGTGCTACAATAACCAG	0.512000													16	58					0	0	0.004990	0	0
TRIM40	135644	broad.mit.edu	37	6	30104992	30104992	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:30104992G>C	ENST00000396581.1	+	2	565	c.179G>C	c.(178-180)tGt>tCt	p.C60S	TRIM40_ENST00000307859.4_Missense_Mutation_p.C60S|TRIM40_ENST00000376724.2_Missense_Mutation_p.C60S			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	60						intracellular	zinc ion binding			ovary(1)	1						CGGAAGCCCTGTTCTGAGGAG	0.572000													11	34					0	0	0.008291	0	0
MYH1	4619	broad.mit.edu	37	17	10419569	10419569	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:10419569C>A	ENST00000226207.5	-	4	389	c.295G>T	c.(295-297)Gag>Tag	p.E99*	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	99	Myosin head-like.					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						ACAGCAGGCTCGTGTAGATGA	0.473000													41	103					3.09479e-21	6.15343e-21	0.006999	1	0
TTC39A	22996	broad.mit.edu	37	1	51767347	51767347	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:51767347T>C	ENST00000447632.2	-	12	1106	c.1058A>G	c.(1057-1059)cAc>cGc	p.H353R	TTC39A_ENST00000371747.3_Missense_Mutation_p.H352R|TTC39A_ENST00000371750.5_Missense_Mutation_p.H318R|TTC39A_ENST00000451380.1_Missense_Mutation_p.H317R|TTC39A_ENST00000262675.7_Missense_Mutation_p.H290R|TTC39A_ENST00000262676.5_3'UTR|TTC39A_ENST00000413473.2_Missense_Mutation_p.H321R			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	353							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						GTAGCACATGTGGTGGAACTG	0.607000													12	22					0	0	0.000978	0	0
BCAP31	10134	broad.mit.edu	37	X	152968480	152968480	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:152968480C>A	ENST00000458587.2	-	6	1141	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W	BCAP31_ENST00000441714.1_Missense_Mutation_p.G171W|BCAP31_ENST00000345046.6_Missense_Mutation_p.G171W|BCAP31_ENST00000477175.1_5'UTR	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	171		Cleavage; by caspase-8 (Potential).			cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCAGCATTCCCGACATCCAAC	0.577000													6	216					0.00307968	0.00360664	0.003080	1	0
OR52A5	390054	broad.mit.edu	37	11	5152990	5152990	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5152990A>G	ENST00000307388.1	-	1	882	c.883T>C	c.(883-885)Tat>Cat	p.Y295H		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	295					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)		TTCACTCCATAGACAATAGGG	0.373000													15	40					0	0	0.004007	0	0
C16orf78	123970	broad.mit.edu	37	16	49433132	49433132	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:49433132C>A	ENST00000299191.3	+	5	858	c.741C>A	c.(739-741)gtC>gtA	p.V247V		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	247								p.V247V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						CCCACATGGTCGAAGAGGACA	0.498000													12	38					2.27111e-07	3.30829e-07	0.001368	1	0
SS18L1	26039	broad.mit.edu	37	20	60737878	60737878	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:60737878G>T	ENST00000331758.3	+	5	473	c.447G>T	c.(445-447)ggG>ggT	p.G149G	SS18L1_ENST00000491916.1_3'UTR|SS18L1_ENST00000421564.1_Silent_p.G149G|SS18L1_ENST00000370848.4_Silent_p.G152G	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	149	Methionine-rich intra-molecular domain (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			GCATCTCTGGGCCCGGCTACA	0.662000			T	SSX1	synovial sarcoma								6	24					3.59834e-05	4.62352e-05	0.001168	1	0
PCDH15	65217	broad.mit.edu	37	10	55566610	55566610	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:55566610A>T	ENST00000373965.2	-	36	5178	c.4784T>A	c.(4783-4785)cTg>cAg	p.L1595Q	PCDH15_ENST00000414778.1_Missense_Mutation_p.L1592Q	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TAATGTGTTCAGAGGTACATT	0.468000										HNSCC(58;0.16)			12	235					0	0	0.001855	0	0
TCF3	6929	broad.mit.edu	37	19	1623968	1623968	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:1623968C>A	ENST00000262965.5	-	8	875	c.531G>T	c.(529-531)ccG>ccT	p.P177P	TCF3_ENST00000588136.1_Silent_p.P177P|TCF3_ENST00000453954.2_Silent_p.P93P|TCF3_ENST00000395423.3_Silent_p.P126P|TCF3_ENST00000344749.5_Silent_p.P177P	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	177					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	p.P177P(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGACCCGGCGGGACCTTCC	0.632000			T	"""PBX1, HLF, TFPT"""	pre B-ALL								7	13					0.00448238	0.00522241	0.004482	1	0
CDYL	9425	broad.mit.edu	37	6	4943946	4943946	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:4943946G>T	ENST00000328908.5	+	7	1581	c.1450G>T	c.(1450-1452)Ggc>Tgc	p.G484C	CDYL_ENST00000397588.3_Missense_Mutation_p.G430C|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000449732.2_Missense_Mutation_p.G298C|CDYL_ENST00000343762.5_Missense_Mutation_p.G298C			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	484					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GAGTCCAGATGGCTGTTCTAC	0.408000													37	135					5.04308e-16	9.35787e-16	0.006230	1	0
ZNF226	7769	broad.mit.edu	37	19	44679961	44679961	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:44679961G>C	ENST00000590089.1	+	7	913	c.546G>C	c.(544-546)caG>caC	p.Q182H	ZNF226_ENST00000337433.5_Missense_Mutation_p.Q182H|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.Q182H			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CTGAGTCACAGAGATTGAACA	0.378000													8	28					0	0	0.004482	0	0
GPR139	124274	broad.mit.edu	37	16	20043246	20043246	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:20043246C>A	ENST00000570682.1	-	2	1173	c.873G>T	c.(871-873)cgG>cgT	p.R291R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGGTGCGGAACCGCTTGCTGA	0.502000													28	84					5.77227e-19	1.12152e-18	0.008361	1	0
ZNF566	84924	broad.mit.edu	37	19	36940320	36940320	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:36940320T>C	ENST00000454319.1	-	5	953	c.819A>G	c.(817-819)cgA>cgG	p.R273R	ZNF566_ENST00000493391.1_Silent_p.R168R|ZNF566_ENST00000424129.2_Silent_p.R272R|ZNF566_ENST00000434377.2_Silent_p.R272R|ZNF566_ENST00000392170.2_Silent_p.R273R	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					TTCTCTGATGTCGAGTGAAGT	0.423000													10	65					0	0	0.008291	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113519495	113519495	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:113519495C>A	ENST00000284601.3	-	4	1720	c.1652G>T	c.(1651-1653)aGt>aTt	p.S551I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	551					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCCTGCCACACTTATTTTAGG	0.413000													14	63					3.35478e-16	6.25062e-16	0.003163	1	0
SEMA5A	9037	broad.mit.edu	37	5	9043077	9043077	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:9043077G>T	ENST00000382496.5	-	23	3822	c.3157C>A	c.(3157-3159)Cca>Aca	p.P1053T	CTD-2215L10.1_ENST00000506519.1_RNA	NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	1053					cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GTGAGATGTGGGTTGAAGTAT	0.328000													7	53					8.12818e-05	0.000102127	0.001984	1	0
SDR9C7	121214	broad.mit.edu	37	12	57324168	57324168	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:57324168C>T	ENST00000293502.1	-	2	545	c.402G>A	c.(400-402)ctG>ctA	p.L134L		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	134						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						TCAGTCCCACCAGGTTCACAT	0.572000													12	40					0	0	0.001855	0	0
PUS7	54517	broad.mit.edu	37	7	105146454	105146454	+	Missense_Mutation	SNP	C	C	A	rs141658791	by1000genomes	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:105146454C>A	ENST00000356362.2	-	4	747	c.533G>T	c.(532-534)cGa>cTa	p.R178L	PUS7_ENST00000469408.1_Missense_Mutation_p.R178L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	178					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTCTTCCAATCGCTGCTTTTC	0.338000													38	154					1.96642e-18	3.79895e-18	0.006999	1	0
CHST11	50515	broad.mit.edu	37	12	105151069	105151069	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:105151069C>T	ENST00000303694.5	+	3	986	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	CHST11_ENST00000549260.1_Silent_p.L178L	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	183					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CATGAAGTTCCTGTTTGTCCG	0.547000													11	53					0	0	0.001368	0	0
FAM47C	442444	broad.mit.edu	37	X	37026780	37026780	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:37026780G>C	ENST00000358047.3	+	1	349	c.297G>C	c.(295-297)aaG>aaC	p.K99N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	99										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCTGCTCAAGAAAGCGGCCC	0.532000													35	74					0	0	0.003271	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438211	204438211	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:204438211C>G	ENST00000367187.3	-	3	1276	c.720G>C	c.(718-720)ttG>ttC	p.L240F	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.L240F	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	240	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			AGGTCGATTTCAAGTTGAGCC	0.567000													31	262					0	0	0.002445	0	0
CD300LB	124599	broad.mit.edu	37	17	72518919	72518919	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:72518919G>T	ENST00000392621.1	-	4	679	c.675C>A	c.(673-675)taC>taA	p.Y225*		NM_174892.2	NP_777552.2	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	188						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						AGAAGTTCATGTAGATAGGCT	0.537000													15	70					6.72482e-11	1.11971e-10	0.003163	1	0
EYS	346007	broad.mit.edu	37	6	66205175	66205175	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:66205175C>A	ENST00000503581.1	-	4	666	c.129G>T	c.(127-129)tgG>tgT	p.W43C	EYS_ENST00000342421.5_Missense_Mutation_p.W43C|EYS_ENST00000393380.2_Missense_Mutation_p.W43C|EYS_ENST00000370616.2_Missense_Mutation_p.W43C|EYS_ENST00000370618.3_Missense_Mutation_p.W43C|EYS_ENST00000370621.3_Missense_Mutation_p.W43C	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	43					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						CTGTTAGTGTCCAATTTACCA	0.408000													33	110					4.62619e-21	9.17157e-21	0.004289	1	0
ASAP2	8853	broad.mit.edu	37	2	9531320	9531320	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:9531320C>A	ENST00000281419.3	+	23	2853	c.2513C>A	c.(2512-2514)tCt>tAt	p.S838Y	ASAP2_ENST00000491413.1_Intron|ASAP2_ENST00000315273.4_Intron	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	838	Pro-rich.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CGCGTGACATCTACCAGTACG	0.567000													27	84					9.39395e-14	1.68571e-13	0.006320	1	0
ADRA1B	147	broad.mit.edu	37	5	159344430	159344430	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:159344430C>G	ENST00000306675.3	+	1	641	c.518C>G	c.(517-519)tCc>tGc	p.S173C		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	173					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	TGGGTCTTGTCCACCGTCATC	0.607000													17	27					0	0	0.004007	0	0
OR11H12	440153	broad.mit.edu	37	14	19378073	19378073	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:19378073C>A	ENST00000550708.1	+	1	552	c.480C>A	c.(478-480)gtC>gtA	p.V160V		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCAAACTGGTCATACTGTGCT	0.473000													25	295					2.79863e-10	4.57043e-10	0.004656	1	0
APOB	338	broad.mit.edu	37	2	21251391	21251391	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:21251391T>A	ENST00000233242.1	-	13	1764	c.1637A>T	c.(1636-1638)cAg>cTg	p.Q546L	APOB_ENST00000399256.4_Missense_Mutation_p.Q546L	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	546	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AAGGAAAGTCTGAAGAAGAAC	0.468000													16	58					0	0	0.004990	0	0
NXPE2	120406	broad.mit.edu	37	11	114569052	114569052	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:114569052G>T	ENST00000375475.5	+	3	516	c.418G>T	c.(418-420)Gga>Tga	p.G140*	NXPE2_ENST00000389586.4_Nonsense_Mutation_p.G140*					neurexophilin and PC-esterase domain family, member 2																		GGACCACTTGGGACACAGGAA	0.552000													8	22					0.000157383	0.000193987	0.003080	1	0
PCDHA3	56145	broad.mit.edu	37	5	140182981	140182981	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140182981G>T	ENST00000522353.2	+	1	2199	c.2199G>T	c.(2197-2199)ggG>ggT	p.G733G	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.G733G|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGACTGTGGGCCGGGCAAGC	0.647000													40	65					9.73076e-26	1.96636e-25	0.006999	1	0
CACNA2D1	781	broad.mit.edu	37	7	81593551	81593551	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:81593551T>C	ENST00000356860.3	-	33	3037	c.2699A>G	c.(2698-2700)cAa>cGa	p.Q900R	CACNA2D1_ENST00000535308.1_Missense_Mutation_p.Q112R|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Q912R	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	912						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCCTGCTCCTTGTTTTGGTGC	0.423000													4	103					0	0	0.000248	0	0
REG1B	5968	broad.mit.edu	37	2	79313623	79313623	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:79313623C>A	ENST00000305089.3	-	4	271	c.191G>T	c.(190-192)tGc>tTc	p.C64F		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	64	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						CATGTTCTGGCAATAGAGCTG	0.498000													18	80					8.28177e-16	1.52429e-15	0.007413	1	0
CHST2	9435	broad.mit.edu	37	3	142841199	142841199	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:142841199C>A	ENST00000309575.3	+	2	2925	c.1541C>A	c.(1540-1542)cCt>cAt	p.P514H		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	514					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GTCAACAGCCCTGAGGAGGTC	0.572000													10	32					0.000442599	0.000535364	0.006214	1	0
SLC9A4	389015	broad.mit.edu	37	2	103095483	103095483	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:103095483A>C	ENST00000295269.4	+	2	899	c.442A>C	c.(442-444)Acc>Ccc	p.T148P		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	148					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTTCATGCCCACCCGGCCCTT	0.592000													16	34					0	0	0.006122	0	0
OR2T12	127064	broad.mit.edu	37	1	248458172	248458172	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:248458172C>A	ENST00000317996.1	-	1	708	c.709G>T	c.(709-711)Gcc>Tcc	p.A237S		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GAGCAGGTGGCAAAGGCCTTC	0.517000													16	80					3.41278e-10	5.55342e-10	0.004990	1	0
ASAP1	50807	broad.mit.edu	37	8	131073179	131073179	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:131073179C>A	ENST00000357668.1	-	27	2865	c.2838G>T	c.(2836-2838)ctG>ctT	p.L946L	ASAP1_ENST00000518721.1_Silent_p.L946L			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	946	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.L946>?(1)|p.L946L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCTTGGGGGCCAGTTCTGTGG	0.577000													61	177					9.04393e-38	1.8607e-37	0.003610	1	0
KCNJ5	3762	broad.mit.edu	37	11	128781254	128781254	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:128781254C>A	ENST00000529694.1	+	2	462	c.86C>A	c.(85-87)gCc>gAc	p.A29D	KCNJ5_ENST00000533599.1_Missense_Mutation_p.A29D|KCNJ5_ENST00000338350.4_Missense_Mutation_p.A29D	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	29					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCAAAACAGGCCCGCGATTAT	0.572000													14	63					4.3838e-07	6.29161e-07	0.001855	1	0
DNAJB2	3300	broad.mit.edu	37	2	220149365	220149365	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:220149365G>T	ENST00000336576.5	+	9	919	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	DNAJB2_ENST00000392086.4_Missense_Mutation_p.D211Y|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	211					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTCCCAGATGACCTGGCACT	0.622000													11	32					0.00829132	0.00954588	0.008291	1	0
KMT2D	8085	broad.mit.edu	37	12	49420538	49420538	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:49420538C>G	ENST00000301067.7	-	48	15210	c.15211G>C	c.(15211-15213)Gag>Cag	p.E5071Q		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCCTGGGTCTCATACACCTCC	0.637000													3	50					0	0	0.004672	0	0
LTBP1	4052	broad.mit.edu	37	2	33412009	33412009	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:33412009T>A	ENST00000404816.2	+	6	1641	c.1288T>A	c.(1288-1290)Tgt>Agt	p.C430S	LTBP1_ENST00000404525.1_Missense_Mutation_p.C104S|LTBP1_ENST00000418533.2_Missense_Mutation_p.C104S|LTBP1_ENST00000390003.4_Missense_Mutation_p.C104S|LTBP1_ENST00000354476.3_Missense_Mutation_p.C430S|LTBP1_ENST00000402934.1_Missense_Mutation_p.C104S|LTBP1_ENST00000407925.1_Missense_Mutation_p.C104S			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	430	EGF-like 2.				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)				AGGAAAACTTTGTCAGATCCC	0.478000													19	31					0	0	0.006122	0	0
EML4	27436	broad.mit.edu	37	2	42488304	42488304	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:42488304A>G	ENST00000318522.5	+	4	644	c.382A>G	c.(382-384)Aaa>Gaa	p.K128E	EML4_ENST00000401738.3_Missense_Mutation_p.K128E|EML4_ENST00000402711.2_Intron	NM_019063.3	NP_061936.2	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	128					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						acagagagaaaaaaaagagga	0.348000			T	ALK	NSCLC								14	13					0	0	0.001855	0	0
SF3B2	10992	broad.mit.edu	37	11	65824815	65824815	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:65824815C>T	ENST00000528302.1	+	6	749	c.695C>T	c.(694-696)cCc>cTc	p.P232L	SF3B2_ENST00000322535.6_Missense_Mutation_p.P249L			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	249					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCTCGTGGTCCCCCACCGCCC	0.527000													8	139					0	0	0.003080	0	0
EFNA1	1942	broad.mit.edu	37	1	155104004	155104004	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:155104004G>T	ENST00000368407.3	+	2	800	c.282G>T	c.(280-282)cgG>cgT	p.R94R	EFNA1_ENST00000368406.2_Silent_p.R94R|EFNA1_ENST00000469878.1_3'UTR	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	94					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGTGCAACCGGCCCAGTGCCA	0.577000													10	14					2.17888e-05	2.84528e-05	0.006214	1	0
OR4X2	119764	broad.mit.edu	37	11	48267425	48267425	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:48267425T>C	ENST00000302329.3	+	1	818	c.770T>C	c.(769-771)cTg>cCg	p.L257P		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTACCACTCTGCCCATAGAC	0.522000													8	37					0	0	0.004482	0	0
HMCN1	83872	broad.mit.edu	37	1	185939528	185939528	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:185939528G>A	ENST00000271588.4	+	15	2503	c.2274G>A	c.(2272-2274)aaG>aaA	p.K758K	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.K758K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	758	Ig-like C2-type 4.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACTTTTGAAGATTCAAGAAA	0.428000													56	163					0	0	0.003610	0	0
GRIN2B	2904	broad.mit.edu	37	12	13716964	13716964	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:13716964A>T	ENST00000279593.3	-	13	3417	c.3208T>A	c.(3208-3210)Tat>Aat	p.Y1070N		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	1070					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGTTCCCATAGGTGACGGTG	0.567000													10	19					0	0	0.000978	0	0
TCTE1	202500	broad.mit.edu	37	6	44254012	44254012	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:44254012C>G	ENST00000371505.4	-	3	657	c.535G>C	c.(535-537)Gac>Cac	p.D179H	TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.D26H|TCTE1_ENST00000371503.3_Missense_Mutation_p.D26H	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	179										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCAGCAGGTCGAGGATCACC	0.647000													5	30					0	0	0.000602	0	0
PER1	5187	broad.mit.edu	37	17	8050243	8050243	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:8050243G>A	ENST00000317276.4	-	14	1944	c.1707C>T	c.(1705-1707)gcC>gcT	p.A569A	PER1_ENST00000354903.5_Silent_p.A553A|PER1_ENST00000581082.1_Silent_p.A549A	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	569					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACTGAGGCCGGGCCCGAGACT	0.587000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					52	95					0	0	0.003610	0	0
NGB	58157	broad.mit.edu	37	14	77734877	77734877	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:77734877G>T	ENST00000298352.4	-	3	627	c.253C>A	c.(253-255)Ctg>Atg	p.L85M		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	85	Globin.					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		TACTCCTCCAGTGAGGACAGG	0.587000													15	81					2.23348e-06	3.10409e-06	0.004007	1	0
FAM171A1	221061	broad.mit.edu	37	10	15263042	15263042	+	Missense_Mutation	SNP	C	C	A	rs146109085		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:15263042C>A	ENST00000378116.4	-	6	778	c.772G>T	c.(772-774)Ggt>Tgt	p.G258C	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	258						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGACCCAGACCGCTCTTCAGC	0.537000													5	59					1.23904e-05	1.64001e-05	0.000602	1	0
EID3	493861	broad.mit.edu	37	12	104698266	104698266	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:104698266G>A	ENST00000527879.1	+	1	750	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	TXNRD1_ENST00000378070.4_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000540716.1_Intron	NM_001008394.2	NP_001008395.1	Q8N140	EID3_HUMAN	EP300 interacting inhibitor of differentiation 3	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.R185Q(1)		large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCAAAGCCCCGACTTGAACAC	0.423000													52	132					0	0	0.003610	0	0
FAR2P2	100216479	broad.mit.edu	37	2	131176649	131176649	+	RNA	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:131176649T>C	ENST00000424873.1	-	0	520					NR_046260.1																						CTCACCTGGGTTTCCTTCCAA	0.488000													5	6					0	0	0.001168	0	0
GPC5	2262	broad.mit.edu	37	13	92560270	92560270	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:92560270G>T	ENST00000377067.3	+	6	1732	c.1360G>T	c.(1360-1362)Gtg>Ttg	p.V454L		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	454						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AATTGATCCTGTGATAAATCA	0.353000													10	46					3.07112e-06	4.22939e-06	0.000978	1	0
FAXC	84553	broad.mit.edu	37	6	99729269	99729269	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:99729269C>A	ENST00000389677.5	-	6	1283	c.1001G>T	c.(1000-1002)tGg>tTg	p.W334L	FAXC_ENST00000538471.1_Missense_Mutation_p.W54L|FAXC_ENST00000461803.1_5'UTR	NM_032511.2	NP_115900.1	Q5TGI0	CF168_HUMAN	failed axon connections homolog (Drosophila)	334																	ATCGTGGTGCCACTCTGGCCA	0.483000													25	81					4.59853e-10	7.44732e-10	0.005443	1	0
SCNN1A	6337	broad.mit.edu	37	12	6458494	6458494	+	Splice_Site	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:6458494T>A	ENST00000358945.3	-	9	1944	c.1505_splice	c.e9+1	p.S502_splice	SCNN1A_ENST00000396966.2_Splice_Site_p.R480_splice|SCNN1A_ENST00000360168.3_Splice_Site_p.S539_splice|SCNN1A_ENST00000543768.1_Splice_Site_p.S503_splice|SCNN1A_ENST00000228916.2_Splice_Site_p.S480_splice|SCNN1A_ENST00000540037.1_Splice_Site_p.S180_splice			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	480					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GACACTAACCTGCATGGCTTC	0.547000													6	13					0	0	0.001168	0	0
CBLN2	147381	broad.mit.edu	37	18	70209247	70209247	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:70209247C>A	ENST00000269503.4	-	3	922	c.149G>T	c.(148-150)cGg>cTg	p.R50L	CBLN2_ENST00000585159.1_Missense_Mutation_p.R50L|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000581073.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	50						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTTCTGCGCCCGCACGGGGCA	0.756000													4	12					3.59834e-05	4.62352e-05	0.001168	1	0
OR56B4	196335	broad.mit.edu	37	11	6129206	6129206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:6129206C>A	ENST00000316529.3	+	1	293	c.198C>A	c.(196-198)taC>taA	p.Y66*		NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACCCATGTACCATTTGCTGG	0.517000													18	29					3.52763e-06	4.8385e-06	0.004990	1	0
KCTD2	23510	broad.mit.edu	37	17	73055695	73055695	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:73055695G>C	ENST00000322444.6	+	4	637	c.631G>C	c.(631-633)Gaa>Caa	p.E211Q	KCTD2_ENST00000581589.1_Missense_Mutation_p.E12Q	NM_015353.1	NP_056168.1	Q14681	KCTD2_HUMAN	potassium channel tetramerization domain containing 2	211						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					CTGGAAATTCGAACAGGTACA	0.537000													4	43					0	0	0.000602	0	0
IL37	27178	broad.mit.edu	37	2	113676314	113676314	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:113676314C>G	ENST00000263326.3	+	5	627	c.585C>G	c.(583-585)aaC>aaG	p.N195K	IL37_ENST00000353225.3_Missense_Mutation_p.N155K|IL37_ENST00000311328.2_Missense_Mutation_p.N169K|IL37_ENST00000352179.3_Missense_Mutation_p.N174K|IL37_ENST00000349806.3_Missense_Mutation_p.N134K	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	195					immune response	cytosol|extracellular space|nucleus	cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						AATTTGAGAACAGGAAACACA	0.498000													8	35					0	0	0.003080	0	0
CHN2	1124	broad.mit.edu	37	7	29535575	29535575	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:29535575C>A	ENST00000222792.6	+	8	1192	c.662C>A	c.(661-663)aCg>aAg	p.T221K	CHN2_ENST00000424025.2_Missense_Mutation_p.T40K|CHN2_ENST00000539389.1_Missense_Mutation_p.T77K|CHN2_ENST00000409041.4_Missense_Mutation_p.T85K|CHN2_ENST00000439711.2_Missense_Mutation_p.T85K|CHN2_ENST00000421775.2_Missense_Mutation_p.T85K|CHN2_ENST00000539406.1_Missense_Mutation_p.T296K|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000546235.1_Missense_Mutation_p.T206K|CHN2_ENST00000495789.2_Missense_Mutation_p.T234K|CHN2_ENST00000435288.2_Intron	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	221					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						CAGGTCCACACGTTCCGAGGC	0.483000													12	21					0.00010058	0.000125564	0.001368	1	0
FBLN1	2192	broad.mit.edu	37	22	45923784	45923784	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:45923784G>C	ENST00000348697.2	+	4	526	c.379G>C	c.(379-381)Gag>Cag	p.E127Q	FBLN1_ENST00000442170.2_Missense_Mutation_p.E127Q|FBLN1_ENST00000402984.3_Missense_Mutation_p.E165Q|FBLN1_ENST00000340923.5_Missense_Mutation_p.E127Q|FBLN1_ENST00000327858.6_Missense_Mutation_p.E127Q|FBLN1_ENST00000262722.7_Missense_Mutation_p.E127Q			P23142	FBLN1_HUMAN	fibulin 1	127	Anaphylatoxin-like 3.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCAGAGCTGCGAGTACAGCCT	0.622000													16	48					0	0	0.004007	0	0
SLC6A1	6529	broad.mit.edu	37	3	11072886	11072886	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:11072886C>G	ENST00000287766.4	+	13	1768	c.1347C>G	c.(1345-1347)ctC>ctG	p.L449L	SLC6A1_ENST00000536032.1_Silent_p.L271L	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	449					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TCTTCAAACTCTTTGACTACT	0.498000													6	159					0	0	0.001984	0	0
BTNL2	56244	broad.mit.edu	37	6	32362737	32362737	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:32362737A>G	ENST00000454136.3	-	6	1148	c.1144T>C	c.(1144-1146)Tct>Cct	p.S382P	BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374995.3_Missense_Mutation_p.S288P|BTNL2_ENST00000540315.1_Missense_Mutation_p.S172P|BTNL2_ENST00000414363.1_Missense_Mutation_p.S172P|BTNL2_ENST00000374993.1_Missense_Mutation_p.S382P|BTNL2_ENST00000544175.1_Missense_Mutation_p.S105P			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	382						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCATCTGAAGAGCACATCGGC	0.577000													33	112					0	0	0.002096	0	0
TTC8	123016	broad.mit.edu	37	14	89338020	89338020	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:89338020G>A	ENST00000338104.6	+	12	1277	c.1225G>A	c.(1225-1227)Gaa>Aaa	p.E409K	TTC8_ENST00000380656.2_Missense_Mutation_p.E393K|TTC8_ENST00000346301.4_Missense_Mutation_p.E353K|TTC8_ENST00000354441.6_Missense_Mutation_p.E128K|TTC8_ENST00000345383.5_Missense_Mutation_p.E383K|TTC8_ENST00000358622.5_Missense_Mutation_p.E195K|TTC8_ENST00000536576.1_Missense_Mutation_p.E154K			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	419					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GGCTGAAAATGAAGAAGAGGC	0.433000													5	101					0	0	0.001168	0	0
KLF12	11278	broad.mit.edu	37	13	74420040	74420040	+	Silent	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:74420040T>G	ENST00000377669.2	-	3	620	c.594A>C	c.(592-594)acA>acC	p.T198T	KLF12_ENST00000472022.1_5'UTR|KLF12_ENST00000377666.4_Silent_p.T198T	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	198					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ACCTTACAGCTGTGTAGACAA	0.493000													20	109					0	0	0.003330	0	0
AASDH	132949	broad.mit.edu	37	4	57221579	57221579	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:57221579G>A	ENST00000205214.6	-	6	1052	c.872C>T	c.(871-873)aCa>aTa	p.T291I	AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000451613.1_Missense_Mutation_p.T291I|AASDH_ENST00000513376.1_Missense_Mutation_p.T191I|AASDH_ENST00000602986.1_Missense_Mutation_p.T138I|AASDH_ENST00000502617.1_Missense_Mutation_p.T291I|AASDH_ENST00000510762.1_5'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	291					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCTAAGCAATGTTGGTGTTGC	0.343000													20	28					0	0	0.002299	0	0
GPR55	9290	broad.mit.edu	37	2	231775329	231775329	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:231775329T>G	ENST00000392040.1	-	2	541	c.349A>C	c.(349-351)Atg>Ctg	p.M117L	GPR55_ENST00000392039.2_Missense_Mutation_p.M117L	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	117					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		AACCGGTCCATGCTGATGAAG	0.592000													11	28					0	0	0.001368	0	0
CHRNB3	1142	broad.mit.edu	37	8	42591711	42591711	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:42591711G>T	ENST00000289957.2	+	6	1455	c.1327G>T	c.(1327-1329)Gtt>Ttt	p.V443F		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	443					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AACAGGCTCGGTTCTGATTTT	0.393000													38	109					4.65686e-17	8.78483e-17	0.003755	1	0
LTBP1	4052	broad.mit.edu	37	2	33488390	33488390	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:33488390C>A	ENST00000404816.2	+	15	2901	c.2548C>A	c.(2548-2550)Cct>Act	p.P850T	LTBP1_ENST00000404525.1_Missense_Mutation_p.P471T|LTBP1_ENST00000418533.2_Missense_Mutation_p.P524T|LTBP1_ENST00000390003.4_Missense_Mutation_p.P525T|LTBP1_ENST00000354476.3_Missense_Mutation_p.P851T|LTBP1_ENST00000402934.1_Missense_Mutation_p.P471T|LTBP1_ENST00000407925.1_Missense_Mutation_p.P524T			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	850					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)				ACCTCCTGTGCCTGTTGAAGT	0.398000													16	58					1.3612e-06	1.92719e-06	0.003163	1	0
NECAB1	64168	broad.mit.edu	37	8	91929850	91929850	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:91929850A>G	ENST00000417640.2	+	6	825	c.488A>G	c.(487-489)cAa>cGa	p.Q163R		NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	163					antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CAAACCCGTCAAGAAAGGCAA	0.378000													3	56					0	0	0.004672	0	0
GRM1	2911	broad.mit.edu	37	6	146719922	146719922	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:146719922G>C	ENST00000392299.2	+	8	2217	c.1747G>C	c.(1747-1749)Gtg>Ctg	p.V583L	GRM1_ENST00000492807.2_Missense_Mutation_p.V583L|GRM1_ENST00000282753.1_Missense_Mutation_p.V583L|GRM1_ENST00000361719.2_Missense_Mutation_p.V583L|GRM1_ENST00000355289.4_Missense_Mutation_p.V583L|GRM1_ENST00000507907.1_Missense_Mutation_p.V583L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	583					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GCCCATTCCTGTGCGCTATCT	0.428000													43	192					0	0	0.003214	0	0
MMP20	9313	broad.mit.edu	37	11	102448108	102448108	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:102448108C>G	ENST00000260228.2	-	10	1413	c.1401G>C	c.(1399-1401)gaG>gaC	p.E467D		NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	467	Hemopexin-like 4.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		CATCTTCCTTCTCTGTGTCAT	0.388000													4	54					0	0	0.000248	0	0
PYGM	5837	broad.mit.edu	37	11	64521742	64521742	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:64521742G>T	ENST00000164139.3	-	9	1473	c.1075C>A	c.(1075-1077)Cgg>Agg	p.R359R	PYGM_ENST00000377432.3_Silent_p.R271R	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	359					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	CAGTCCATCCGTTCCAGGTCC	0.632000													16	65					2.23348e-06	3.10409e-06	0.004007	1	0
SHROOM2	357	broad.mit.edu	37	X	9863246	9863246	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:9863246G>A	ENST00000380913.3	+	4	1388	c.1298G>A	c.(1297-1299)aGc>aAc	p.S433N		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	433					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCTATACAGCGACCACAGC	0.632000													20	43					0	0	0.002299	0	0
CSTF2T	23283	broad.mit.edu	37	10	53458533	53458533	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:53458533C>G	ENST00000331173.4	-	1	822	c.777G>C	c.(775-777)caG>caC	p.Q259H	PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron	NM_015235.2	NP_056050.1	Q9H0L4	CSTFT_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant	259					mRNA processing	nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30				COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122)		GAATTCCACCCTGGATAGGAG	0.547000													4	34					0	0	0.000248	0	0
F13B	2165	broad.mit.edu	37	1	197025021	197025021	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:197025021T>C	ENST00000367412.1	-	8	1221	c.1178A>G	c.(1177-1179)aAt>aGt	p.N393S		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	393					blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACAATTCTCATTATTTTCTAA	0.328000													9	27					0	0	0.004482	0	0
PMEPA1	56937	broad.mit.edu	37	20	56227368	56227368	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:56227368A>C	ENST00000341744.3	-	4	924	c.605T>G	c.(604-606)cTg>cGg	p.L202R	PMEPA1_ENST00000347215.4_Missense_Mutation_p.L167R|PMEPA1_ENST00000265626.4_Missense_Mutation_p.L152R|PMEPA1_ENST00000395816.3_Missense_Mutation_p.L152R|PMEPA1_ENST00000395814.1_Missense_Mutation_p.L152R	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	202					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GGGGCCGCCCAGCCTGGCACT	0.687000													9	41					0	0	0.008291	0	0
TAAR9	134860	broad.mit.edu	37	6	132860367	132860367	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:132860367C>A	ENST00000434551.1	+	0	939					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTTATGCTTTCTTTTACCAAT	0.318000													8	25					0.000157383	0.000193987	0.003080	1	0
VSX1	30813	broad.mit.edu	37	20	25059450	25059450	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:25059450A>G	ENST00000376707.3	-	3	676	c.642T>C	c.(640-642)ccT>ccC	p.P214P	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000376709.4_Intron|VSX1_ENST00000451258.1_Intron	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						AGCGGAGAAAAGGGACCCCAG	0.532000													4	189					0	0	0.000602	0	0
ADCY8	114	broad.mit.edu	37	8	132002674	132002674	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:132002674C>A	ENST00000286355.5	-	2	3167	c.1075G>T	c.(1075-1077)Gcc>Tcc	p.A359S	ADCY8_ENST00000377928.3_Missense_Mutation_p.A359S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	359					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CGCAGCCTGGCCTCCACACAC	0.502000										HNSCC(32;0.087)			34	130					4.34311e-12	7.48773e-12	0.003271	1	0
RPL10L	140801	broad.mit.edu	37	14	47120508	47120508	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:47120508G>T	ENST00000298283.3	-	1	520	c.432C>A	c.(430-432)aaC>aaA	p.N144K		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	144					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CATGCTCCTCGTTCTGAAGCT	0.522000													20	59					6.33239e-15	1.15768e-14	0.001523	1	0
IGHV1-2	28474	broad.mit.edu	37	14	106452807	106452807	+	RNA	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:106452807G>A	ENST00000390594.2	-	0	278																											ACCACTGTTAGGGTTGATCCA	0.562000													31	160					0	0	0.008361	0	0
TMEM252	169693	broad.mit.edu	37	9	71152289	71152289	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:71152289G>A	ENST00000377311.3	-	2	451	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_153237.1	NP_694969.1			transmembrane protein 252																		TTCCATCCTGGAATTCCAGGC	0.557000													4	41					0	0	0.000248	0	0
TP53BP1	7158	broad.mit.edu	37	15	43724817	43724817	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:43724817C>A	ENST00000263801.3	-	17	3487	c.3235G>T	c.(3235-3237)Ggt>Tgt	p.G1079C	TP53BP1_ENST00000382044.4_Missense_Mutation_p.G1084C|TP53BP1_ENST00000382039.3_Missense_Mutation_p.G1084C|TP53BP1_ENST00000450115.2_Missense_Mutation_p.G1084C	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1079					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTATGGTCACCCTCCAATTTT	0.458000								Other conserved DNA damage response genes					8	25					0.000274275	0.000335034	0.004482	1	0
LRRC4C	57689	broad.mit.edu	37	11	40136889	40136889	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:40136889G>T	ENST00000278198.2	-	2	2917	c.954C>A	c.(952-954)gaC>gaA	p.D318E	LRRC4C_ENST00000528697.1_Missense_Mutation_p.D318E|LRRC4C_ENST00000527150.1_Missense_Mutation_p.D318E|LRRC4C_ENST00000530763.1_Missense_Mutation_p.D318E			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	318	LRRCT.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AGGGGGCCATGTCTTTTATCC	0.488000													16	33					0.000308642	0.000376339	0.003163	1	0
USH1C	10083	broad.mit.edu	37	11	17544392	17544392	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:17544392G>T	ENST00000005226.7	-	12	957	c.958C>A	c.(958-960)Cag>Aag	p.Q320K	USH1C_ENST00000318024.4_Missense_Mutation_p.Q320K|USH1C_ENST00000527020.1_Missense_Mutation_p.Q301K|USH1C_ENST00000527720.1_Missense_Mutation_p.Q289K	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	320					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGCCGCTTCTGCATGAGAAGC	0.657000													3	15					0.004672	0.00542941	0.004672	1	0
CACNG5	27091	broad.mit.edu	37	17	64873633	64873633	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:64873633C>A	ENST00000533854.1	+	2	420	c.183C>A	c.(181-183)gtC>gtA	p.V61V	CACNG5_ENST00000169565.3_Silent_p.V61V|CACNG5_ENST00000307139.3_Silent_p.V61V			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	61					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity	p.V61V(2)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TCTGGCGGGTCTGCTTCCTTG	0.617000													11	23					3.86212e-05	4.92529e-05	0.008291	1	0
CCER1	196477	broad.mit.edu	37	12	91347470	91347470	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:91347470G>T	ENST00000358859.2	-	1	1483	c.1050C>A	c.(1048-1050)aaC>aaA	p.N350K	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1			coiled-coil glutamate-rich protein 1																		CTCTCTGCTCGTTCTCCTCCA	0.488000													12	46					1.52009e-12	2.65431e-12	0.003163	1	0
ZFPM2	23414	broad.mit.edu	37	8	106813863	106813863	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:106813863C>A	ENST00000407775.2	+	8	1803	c.1553C>A	c.(1552-1554)gCt>gAt	p.A518D	ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000517361.1_Missense_Mutation_p.A386D|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.A386D|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.A249D|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	518					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)			GAGATCTTAGCTAAGATGTCT	0.502000													60	132					5.47352e-35	1.12273e-34	0.003610	1	0
CCDC80	151887	broad.mit.edu	37	3	112358068	112358068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:112358068C>A	ENST00000206423.3	-	2	1638	c.685G>T	c.(685-687)Gag>Tag	p.E229*	CCDC80_ENST00000439685.2_Nonsense_Mutation_p.E229*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	229										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TTGCCCTTCTCCAGCTTCAGG	0.577000													38	107					3.93418e-24	7.87993e-24	0.004289	1	0
RNASE13	440163	broad.mit.edu	37	14	21502328	21502328	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:21502328G>T	ENST00000382951.3	-	2	257	c.120C>A	c.(118-120)ccC>ccA	p.P40P	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	40						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		AGTTAACCCTGGGATAGTCAA	0.468000													12	55					5.50884e-06	7.46571e-06	0.001368	1	0
OR2T2	401992	broad.mit.edu	37	1	248616358	248616358	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:248616358T>A	ENST00000342927.3	+	1	282	c.260T>A	c.(259-261)cTg>cAg	p.L87Q		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGGACCTCCTGTCCAAGGAC	0.537000													9	204					0	0	0.004007	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89082259	89082259	+	RNA	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:89082259C>G	ENST00000393525.3	+	0	483																											AGTGTCTTCTCAGAAACAACC	0.308000													11	43					0	0	0.000978	0	0
ATP1A4	480	broad.mit.edu	37	1	160141191	160141191	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:160141191G>T	ENST00000368081.4	+	11	2113	c.1642G>T	c.(1642-1644)Gcc>Tcc	p.A548S		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	548					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCCAAAATGCCTACTTAGA	0.463000													27	44					1.42536e-11	2.43886e-11	0.004656	1	0
SERPINA10	51156	broad.mit.edu	37	14	94756466	94756466	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:94756466G>T	ENST00000554723.1	-	2	1003	c.585C>A	c.(583-585)aaC>aaA	p.N195K	SERPINA10_ENST00000554173.1_Missense_Mutation_p.N155K|SERPINA10_ENST00000261994.4_Missense_Mutation_p.N155K|SERPINA10_ENST00000393096.1_Missense_Mutation_p.N155K			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	155					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCAGTTCCAGGTTGCGGGAGA	0.522000													8	70					0.000442599	0.000535364	0.006214	1	0
DNAH10	196385	broad.mit.edu	37	12	124382337	124382337	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:124382337G>T	ENST00000409039.3	+	54	8972	c.8947G>T	c.(8947-8949)Gca>Tca	p.A2983S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2983	AAA 4 (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)		AATGATCCCGGCAGAAAATAT	0.428000													17	73					3.45872e-05	4.49073e-05	0.004007	1	0
H2BFWT	158983	broad.mit.edu	37	X	103267967	103267967	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:103267967A>T	ENST00000217926.5	-	1	292	c.266T>A	c.(265-267)cTg>cAg	p.L89Q		NM_001002916.3	NP_001002916.2	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	89					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AACCTGCTTCAGCACCCGGCG	0.627000													6	40					0	0	0.001984	0	0
ATP8A1	10396	broad.mit.edu	37	4	42487601	42487601	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:42487601C>A	ENST00000381668.5	-	25	2467	c.2236G>T	c.(2236-2238)Ggg>Tgg	p.G746W	ATP8A1_ENST00000264449.10_Missense_Mutation_p.G731W	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	746					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGGGTTTTCCCATCAATTATA	0.418000													11	38					6.40141e-05	8.11044e-05	0.000978	1	0
SOX1	6656	broad.mit.edu	37	13	112722023	112722023	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:112722023G>C	ENST00000330949.1	+	1	111	c.51G>C	c.(49-51)caG>caC	p.Q17H		NM_005986.2	NP_005977.2	O00570	SOX1_HUMAN	SRY (sex determining region Y)-box 1	17					chromatin organization	nucleus	core promoter sequence-specific DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			lung(4)	4	all_lung(23;0.000652)|Lung NSC(43;0.017)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	all_cancers(25;0.000331)|Lung NSC(25;0.0496)|all_lung(25;0.0831)|all_epithelial(44;0.0868)|Breast(118;0.231)		OV - Ovarian serous cystadenocarcinoma(48;0.132)		GCGGCGCCCAGGCCCCCACGA	0.791000													5	16					0	0	0.001984	0	0
MAP4	4134	broad.mit.edu	37	3	47951566	47951566	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:47951566G>C	ENST00000426837.2	-	10	4483	c.4396C>G	c.(4396-4398)Caa>Gaa	p.Q1466E	MAP4_ENST00000264724.11_Missense_Mutation_p.Q56E|MAP4_ENST00000360240.6_Intron|MAP4_ENST00000383737.4_Intron|MAP4_ENST00000395734.3_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	846					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TTTACTACTTGAGGAGTAGGA	0.428000													3	82					0	0	0.004672	0	0
GABRG1	2565	broad.mit.edu	37	4	46053441	46053441	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:46053441C>A	ENST00000295452.4	-	8	1298	c.1131_splice	c.e8+1	p.S377_splice		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	377					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTTAACATACCGAGGCTTTAT	0.313000													5	12					1.024e-07	1.51927e-07	0.000602	1	0
PCLO	27445	broad.mit.edu	37	7	82544135	82544135	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:82544135C>A	ENST00000423517.2	-	7	13504	c.13167G>T	c.(13165-13167)agG>agT	p.R4389S	PCLO_ENST00000333891.8_Missense_Mutation_p.R4389S|PCLO_ENST00000437081.1_Missense_Mutation_p.R1109S	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	4320					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAAACTGATCCCTGGTGTCTG	0.522000													9	29					1.12685e-05	1.50615e-05	0.004482	1	0
SLC22A7	10864	broad.mit.edu	37	6	43271888	43271888	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:43271888G>T	ENST00000372585.5	+	10	1593	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G498W|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G498W	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	500						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TACTTATGGGGGGATCGCCCT	0.662000													32	87					8.16721e-17	1.53643e-16	0.002096	1	0
TAF1L	138474	broad.mit.edu	37	9	32633404	32633404	+	Missense_Mutation	SNP	C	C	T	rs145899352		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:32633404C>T	ENST00000242310.4	-	1	2263	c.2174G>A	c.(2173-2175)cGg>cAg	p.R725Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	725					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCCAGGTTTCCGTTTATAATA	0.423000													53	112					0	0	0.003610	0	0
DST	667	broad.mit.edu	37	6	56504830	56504830	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:56504830C>A	ENST00000370754.5	-	18	2416	c.2417G>T	c.(2416-2418)gGc>gTc	p.G806V	DST_ENST00000361203.3_Missense_Mutation_p.G628V|DST_ENST00000421834.2_Missense_Mutation_p.G628V|DST_ENST00000370769.4_Missense_Mutation_p.G628V|DST_ENST00000446842.2_Missense_Mutation_p.G302V|DST_ENST00000244364.6_Missense_Mutation_p.G302V|DST_ENST00000370788.2_Missense_Mutation_p.G628V|DST_ENST00000312431.6_Missense_Mutation_p.G628V|DST_ENST00000370765.6_Missense_Mutation_p.G302V|DST_ENST00000518935.1_Missense_Mutation_p.G302V			Q03001	DYST_HUMAN	dystonin	628					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CAAATCTGAGCCCCACTCAGT	0.333000													20	55					1.50039e-11	2.56082e-11	0.001882	1	0
SUSD5	26032	broad.mit.edu	37	3	33195367	33195367	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:33195367T>A	ENST00000309558.3	-	5	1174	c.757A>T	c.(757-759)Att>Ttt	p.I253F		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	253					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCCACAGAAATGGAGACCAGA	0.562000													11	33					0	0	0.000978	0	0
SLC9A9	285195	broad.mit.edu	37	3	142985603	142985603	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:142985603C>A	ENST00000316549.6	-	16	2087	c.1879G>T	c.(1879-1881)Ggc>Tgc	p.G627C		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	627					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity	p.G627C(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CCTCCCAGGCCGAGGTCTCCC	0.498000													23	82					9.95505e-16	1.82979e-15	0.002299	1	0
D2HGDH	728294	broad.mit.edu	37	2	242690681	242690681	+	Missense_Mutation	SNP	A	A	G	rs149383887	by1000genomes	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:242690681A>G	ENST00000321264.4	+	8	1227	c.1018A>G	c.(1018-1020)Atc>Gtc	p.I340V	D2HGDH_ENST00000403782.1_Missense_Mutation_p.I206V|D2HGDH_ENST00000486953.1_Intron	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	340					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TTACGTCCTCATCGAGACTTC	0.622000													15	30					0	0	0.004990	0	0
FAM13C	220965	broad.mit.edu	37	10	61083748	61083748	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:61083748C>A	ENST00000373867.3	-	5	659	c.194_splice	c.e5+1	p.R65_splice	FAM13C_ENST00000435852.2_Splice_Site_p.R148_splice|FAM13C_ENST00000419214.2_Splice_Site_p.R148_splice|FAM13C_ENST00000442566.3_Splice_Site_p.R148_splice|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000468840.2_Splice_Site_p.R65_splice|FAM13C_ENST00000373868.2_Splice_Site_p.R148_splice|FAM13C_ENST00000277705.6_Splice_Site_p.R148_splice|FAM13C_ENST00000422313.2_Splice_Site_p.R148_splice	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	148										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AAGGGCCCACCTTGGTTGAAG	0.498000													9	134					2.17888e-05	2.84528e-05	0.006214	1	0
AC015849.16	0	broad.mit.edu	37	17	34235630	34235630	+	RNA	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:34235630C>G	ENST00000587132.1	-	0	2397																											TTCGGTTCCTCCTGTGCAGTT	0.448000													4	101					0	0	0.000602	0	0
ALDH1B1	219	broad.mit.edu	37	9	38395746	38395746	+	Translation_Start_Site	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:38395746A>T	ENST00000377698.3	+	2	154	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	1					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GAGTGTCAGCATGCTGCGCTT	0.607000													6	39					0	0	0.001168	0	0
CSMD3	114788	broad.mit.edu	37	8	113694744	113694744	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:113694744C>A	ENST00000297405.5	-	16	2848	c.2604G>T	c.(2602-2604)caG>caT	p.Q868H	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q868H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q828H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q764H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	868	Sushi 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCTGTTCCCTGGGTTTTAA	0.378000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			18	67					1.99824e-07	2.91392e-07	0.004990	1	0
OR4A16	81327	broad.mit.edu	37	11	55111564	55111564	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55111564G>T	ENST00000314721.2	+	1	938	c.888G>T	c.(886-888)atG>atT	p.M296I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	296					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						AAAATGCTATGAAAAATCTCT	0.313000													16	42					8.60227e-14	1.54569e-13	0.004007	1	0
CDX1	1044	broad.mit.edu	37	5	149563122	149563122	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:149563122C>A	ENST00000231656.8	+	3	759	c.677C>A	c.(676-678)cCg>cAg	p.P226Q		NM_001804.2	NP_001795.2	P47902	CDX1_HUMAN	caudal type homeobox 1	226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|lung(1)|ovary(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCACAGCCGCCGATGGCCCAC	0.637000													15	17					6.31663e-08	9.41274e-08	0.003163	1	0
NFATC3	4775	broad.mit.edu	37	16	68156673	68156673	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:68156673C>T	ENST00000349223.5	+	2	1111	c.887C>T	c.(886-888)tCa>tTa	p.S296L	NFATC3_ENST00000575270.1_Missense_Mutation_p.S296L|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000329524.4_Missense_Mutation_p.S296L|NFATC3_ENST00000346183.3_Missense_Mutation_p.S296L	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	296	3 X SP repeats.				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)		CCTGTTCCTTCACCTGGTCAC	0.557000													24	43					0	0	0.005443	0	0
RIMS2	9699	broad.mit.edu	37	8	104948909	104948909	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:104948909C>A	ENST00000507740.1	+	10	2118	c.1882C>A	c.(1882-1884)Caa>Aaa	p.Q628K	RIMS2_ENST00000406091.3_Missense_Mutation_p.Q836K|RIMS2_ENST00000262231.10_Missense_Mutation_p.Q675K|RIMS2_ENST00000436393.2_Missense_Mutation_p.Q614K	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	898					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCTTTGGGATCAAGCTCGTGT	0.373000										HNSCC(12;0.0054)			22	69					1.96895e-08	2.98631e-08	0.002780	1	0
MYCT1	80177	broad.mit.edu	37	6	153042943	153042943	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:153042943C>A	ENST00000367245.5	+	2	271	c.263C>A	c.(262-264)gCt>gAt	p.A88D	MYCT1_ENST00000529453.1_Intron	NM_025107.2	NP_079383.2	Q8N699	MYCT1_HUMAN	myc target 1	88						nucleus				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		TTTATTTGGGCTGTGTTCATT	0.448000													22	84					1.37878e-21	2.74949e-21	0.003330	1	0
GTF2I	2969	broad.mit.edu	37	7	74114663	74114663	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:74114663C>T	ENST00000324896.4	+	5	849	c.460C>T	c.(460-462)Ccg>Tcg	p.P154S	AC083884.8_ENST00000450426.2_RNA|AC083884.8_ENST00000434256.1_RNA|GTF2I_ENST00000416070.1_Missense_Mutation_p.P154S|AC083884.8_ENST00000594967.1_RNA|GTF2I_ENST00000353920.4_Missense_Mutation_p.P154S|GTF2I_ENST00000346152.4_Missense_Mutation_p.P154S|GTF2I_ENST00000443166.1_Missense_Mutation_p.P154S	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	154					negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GCAGGGGCTTCCGGAAGGTGT	0.483000													9	162					0	0	0.000978	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996730	19996730	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:19996730G>T	ENST00000391403.2	-	1	1148	c.1045C>A	c.(1045-1047)Cag>Aag	p.Q349K		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	349						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGTTTCTGCTGAAGCTTCTGA	0.328000													18	105					9.16793e-09	1.41093e-08	0.004990	1	0
OR4K2	390431	broad.mit.edu	37	14	20344723	20344723	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:20344723C>A	ENST00000298642.2	+	1	333	c.297C>A	c.(295-297)acC>acA	p.T99T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCTGCCTTACCCAGATATTCT	0.413000													19	83					8.00594e-06	1.08283e-05	0.007413	1	0
CTNNA2	1496	broad.mit.edu	37	2	79878723	79878723	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:79878723C>A	ENST00000466387.1	+	6	765	c.41C>A	c.(40-42)cCc>cAc	p.P14H	CTNNA2_ENST00000409266.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000402739.4_Missense_Mutation_p.P14H|CTNNA2_ENST00000540488.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000496558.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000541047.1_Missense_Mutation_p.P14H|CTNNA2_ENST00000361291.4_Missense_Mutation_p.P48H			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	14					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						AAATGGGACCCCAAAAGTTTG	0.398000													15	68					1.33834e-09	2.12946e-09	0.007413	1	0
APOA1	335	broad.mit.edu	37	11	116706556	116706556	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:116706556C>G	ENST00000236850.4	-	4	1137	c.772G>C	c.(772-774)Gag>Cag	p.E258Q	APOA1_ENST00000375323.1_Missense_Mutation_p.E258Q|APOA1_ENST00000375320.1_Missense_Mutation_p.E258Q|APOA1_ENST00000375329.2_Missense_Mutation_p.E236Q|APOA1_ENST00000359492.2_Missense_Mutation_p.E258Q	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	258	10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTGTACTCCTCGAGAGCGCTC	0.622000													15	93					0	0	0.003163	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													3	65					0	0	0.004672	0	0
CHRNA5	1138	broad.mit.edu	37	15	78882859	78882859	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:78882859C>G	ENST00000299565.5	+	5	1326	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	376					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						GTACTTCACTCAGAAAGAGGA	0.438000													3	88					0	0	0.004672	0	0
THBS2	7058	broad.mit.edu	37	6	169648580	169648580	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:169648580C>T	ENST00000366787.3	-	4	790	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	181	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGCAGGTGCTCGTAGAAGGGC	0.622000													17	58					0	0	0.006122	0	0
SHROOM3	57619	broad.mit.edu	37	4	77691881	77691881	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:77691881G>T	ENST00000296043.6	+	10	6405	c.5452G>T	c.(5452-5454)Gtg>Ttg	p.V1818L	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1818	ASD2.				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)			GGGAGAAGAGGTGGAGGCTCT	0.552000													30	83					1.88708e-17	3.57968e-17	0.008361	1	0
PPP6R3	55291	broad.mit.edu	37	11	68370837	68370837	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:68370837G>C	ENST00000393799.2	+	22	2594	c.2327G>C	c.(2326-2328)aGc>aCc	p.S776T	PPP6R3_ENST00000265637.4_Missense_Mutation_p.S730T|PPP6R3_ENST00000527403.2_Missense_Mutation_p.S741T|PPP6R3_ENST00000534534.1_Missense_Mutation_p.S544T|PPP6R3_ENST00000524845.1_Missense_Mutation_p.S747T|PPP6R3_ENST00000265636.5_Missense_Mutation_p.S696T|PPP6R3_ENST00000393800.2_Missense_Mutation_p.S776T|PPP6R3_ENST00000393801.3_Missense_Mutation_p.S776T|PPP6R3_ENST00000529710.1_Missense_Mutation_p.S696T|PPP6R3_ENST00000524904.1_Missense_Mutation_p.S770T			Q5H9R7	PP6R3_HUMAN	protein phosphatase 6, regulatory subunit 3	776					regulation of phosphoprotein phosphatase activity	cytoplasm|nucleus	protein phosphatase binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATGGAAGCCAGCTCTGACGGA	0.537000													19	76					0	0	0.007413	0	0
TFAP2D	83741	broad.mit.edu	37	6	50686838	50686838	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:50686838T>A	ENST00000008391.3	+	3	801	c.573T>A	c.(571-573)aaT>aaA	p.N191K	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	191							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTGTTCTCAATGGCCAAGGTG	0.388000													10	17					0	0	0.001855	0	0
RYR2	6262	broad.mit.edu	37	1	237753238	237753238	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:237753238C>A	ENST00000366574.2	+	30	4061	c.3744C>A	c.(3742-3744)acC>acA	p.T1248T	RYR2_ENST00000360064.6_Silent_p.T1246T|RYR2_ENST00000542537.1_Silent_p.T1232T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1248	4 X approximate repeats.				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)			GGGATATTACCATGTGGCTGA	0.388000													8	33					0.00307968	0.00360664	0.003080	1	0
ANKS3	124401	broad.mit.edu	37	16	4747383	4747383	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:4747383C>G	ENST00000304283.4	-	16	2139	c.1845G>C	c.(1843-1845)atG>atC	p.M615I	ANKS3_ENST00000446014.2_Missense_Mutation_p.M486I|ANKS3_ENST00000585773.1_Missense_Mutation_p.M542I	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	615										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						CGGGGAGGCTCATGGCCTGCA	0.642000													5	56					0	0	0.001168	0	0
PCDHB17P	54661	broad.mit.edu	37	5	140536781	140536781	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140536781A>T	ENST00000539533.1	+	1	1205	c.1205A>T	c.(1204-1206)tAc>tTc	p.Y402F																								GAAAATTTCTACACTTTGTTA	0.468000													7	22					0	0	0.001984	0	0
GLI3	2737	broad.mit.edu	37	7	42012087	42012087	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:42012087G>T	ENST00000395925.3	-	13	2036	c.1952C>A	c.(1951-1953)cCa>cAa	p.P651Q	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	651					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTCGGGGGTGGCGGCCGAGG	0.612000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				15	83					3.52763e-06	4.8385e-06	0.004990	1	0
GABRR1	2569	broad.mit.edu	37	6	89909117	89909117	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:89909117C>G	ENST00000435811.1	-	3	715	c.261G>C	c.(259-261)caG>caC	p.Q87H	GABRR1_ENST00000369451.3_Missense_Mutation_p.Q17H|GABRR1_ENST00000454853.2_Missense_Mutation_p.Q104H	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	104					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AACTCTCCACCTGCACATCCA	0.522000													10	38					0	0	0.001368	0	0
BMS1P20	96610	broad.mit.edu	37	22	22661363	22661363	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:22661363G>T	ENST00000426066.1	+	0	360					NR_027293.1																						GGGCAACAGCGAGGGAAATGT	0.502000													12	30					1.5842e-08	2.41892e-08	0.001855	1	0
RPAIN	84268	broad.mit.edu	37	17	5335888	5335888	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:5335888C>G	ENST00000381209.3	+	7	1227	c.657C>G	c.(655-657)ctC>ctG	p.L219L	RPAIN_ENST00000536255.2_3'UTR|RPAIN_ENST00000381208.5_Silent_p.L172L|CTC-524C5.2_ENST00000575890.1_RNA|RPAIN_ENST00000327154.6_3'UTR	NM_001033002.3	NP_001028174.2	Q86UA6	RIP_HUMAN	RPA interacting protein	219					DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CTGTGATCCTCTAGAGCCAGC	0.368000													4	58					0	0	0.000248	0	0
KRT85	3891	broad.mit.edu	37	12	52758745	52758745	+	Splice_Site	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:52758745C>T	ENST00000257901.3	-	2	705		c.e2+1			NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85						epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCTGCACTCACTTCTTCTTGT	0.607000													22	101					0	0	0.001882	0	0
ADAMTS7	11173	broad.mit.edu	37	15	79051871	79051871	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:79051871T>A	ENST00000388820.4	-	24	5163	c.4953A>T	c.(4951-4953)ctA>ctT	p.L1651L		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1651	PLAC.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCGGCCCAGTAGGCGCAGCG	0.706000													4	13					0	0	0.000248	0	0
P2RX1	5023	broad.mit.edu	37	17	3819461	3819461	+	Missense_Mutation	SNP	C	C	G	rs35715771		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:3819461C>G	ENST00000225538.3	-	1	333	c.59G>C	c.(58-60)cGc>cCc	p.R20P		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	20					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CAGCACCATGCGGGGGGTGTC	0.652000													38	70					0	0	0.007835	0	0
CEP44	80817	broad.mit.edu	37	4	175223237	175223237	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:175223237C>G	ENST00000503780.1	+	4	551	c.137C>G	c.(136-138)tCt>tGt	p.S46C	CEP44_ENST00000457424.2_Missense_Mutation_p.S46C|CEP44_ENST00000296519.4_Missense_Mutation_p.S46C|CEP44_ENST00000426172.1_Missense_Mutation_p.S46C	NM_001040157.2	NP_001035247.1	Q9C0F1	CEP44_HUMAN	centrosomal protein 44kDa	46						centrosome|midbody|spindle pole				endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						ATCAGCTATTCTTTTACCTCA	0.328000													7	55					0	0	0.004482	0	0
HRNR	388697	broad.mit.edu	37	1	152192096	152192096	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:152192096C>T	ENST00000368801.2	-	3	2084	c.2009G>A	c.(2008-2010)gGg>gAg	p.G670E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	670					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAAGAGTGCCCAAAATCGGA	0.592000													76	149					0	0	0.003610	0	0
ADCY1	107	broad.mit.edu	37	7	45688397	45688397	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:45688397G>T	ENST00000297323.7	+	5	1170		c.e5+1		ADCY1_ENST00000432715.1_Splice_Site	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATACCATCACGTAAGTACCCC	0.587000													18	25					5.03518e-11	8.46657e-11	0.007413	1	0
CUL1	8454	broad.mit.edu	37	7	148486887	148486887	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:148486887A>C	ENST00000325222.4	+	15	1922	c.1643A>C	c.(1642-1644)cAg>cCg	p.Q548P	CUL1_ENST00000409469.1_Missense_Mutation_p.Q548P|CUL1_ENST00000602748.1_Missense_Mutation_p.Q548P	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	548					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGGCCCTTCCAGCAGTCTTGT	0.517000													41	130					0	0	0.003610	0	0
DMXL1	1657	broad.mit.edu	37	5	118580152	118580152	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:118580152G>C	ENST00000311085.8	+	42	8820	c.8740G>C	c.(8740-8742)Gac>Cac	p.D2914H	DMXL1_ENST00000505312.1_3'UTR|DMXL1_ENST00000539542.1_Missense_Mutation_p.D2935H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2914										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATATGTATTTGACCTTTGTCA	0.423000													8	37					0	0	0.003080	0	0
ECT2	1894	broad.mit.edu	37	3	172474909	172474909	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:172474909G>C	ENST00000417960.1	+	5	821	c.344G>C	c.(343-345)aGa>aCa	p.R115T	ECT2_ENST00000232458.5_Missense_Mutation_p.R116T|ECT2_ENST00000392692.3_Missense_Mutation_p.R147T|ECT2_ENST00000441497.2_Missense_Mutation_p.R116T|ECT2_ENST00000540509.1_Missense_Mutation_p.R147T|ECT2_ENST00000427830.1_Missense_Mutation_p.R116T	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	116					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			GCTGATTGTAGAGTTATTGGA	0.313000													6	96					0	0	0.001984	0	0
REG1P	5969	broad.mit.edu	37	2	79363119	79363119	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:79363119G>T	ENST00000444841.1	-	0	1219																											TAGCACAGTAGGCAGTATTGG	0.527000													5	18					0.000602214	0.000722021	0.000602	1	0
GPR98	84059	broad.mit.edu	37	5	89949444	89949444	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:89949444A>G	ENST00000405460.2	+	20	4149	c.4053A>G	c.(4051-4053)acA>acG	p.T1351T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1351					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)		GGAATAATACAATTGCCAACT	0.458000													4	14					0	0	0.000602	0	0
TAAR8	83551	broad.mit.edu	37	6	132874129	132874129	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:132874129G>T	ENST00000275200.1	+	1	298	c.298G>T	c.(298-300)Gga>Tga	p.G100*		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	100						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTGGTATTTTGGAGCCAAATT	0.468000													18	138					5.01169e-05	6.37342e-05	0.004990	1	0
ABCA13	154664	broad.mit.edu	37	7	48315431	48315431	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:48315431A>G	ENST00000435803.1	+	17	6192	c.6168A>G	c.(6166-6168)gaA>gaG	p.E2056E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2056					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAACTTTGAAGAACTATGGC	0.338000													9	30					0	0	0.004482	0	0
LCE1D	353134	broad.mit.edu	37	1	152770363	152770363	+	Silent	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:152770363T>G	ENST00000326233.6	+	2	136	c.93T>G	c.(91-93)ccT>ccG	p.P31P		NM_178352.2	NP_848129.1	Q5T752	LCE1D_HUMAN	late cornified envelope 1D	31	Cys-rich.				cellular response to calcium ion|keratinization	cornified envelope|perinuclear region of cytoplasm				large_intestine(1)	1	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AATGTCCCCCTAAGTGCCCTC	0.657000													39	28					0	0	0.005524	0	0
GANC	2595	broad.mit.edu	37	15	42600445	42600445	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:42600445C>G	ENST00000318010.8	+	8	891	c.651C>G	c.(649-651)ttC>ttG	p.F217L	GANC_ENST00000566442.1_Missense_Mutation_p.F217L	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	217					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		GTTTGGATTTCTCCTTGCATG	0.393000													27	112					0	0	0.001786	0	0
PMS1	5378	broad.mit.edu	37	2	190670501	190670501	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:190670501A>G	ENST00000409985.1	+	4	603	c.439A>G	c.(439-441)Aca>Gca	p.T147A	PMS1_ENST00000421722.1_Intron|PMS1_ENST00000418224.3_Intron|PMS1_ENST00000409823.3_Intron|PMS1_ENST00000447232.2_Intron|PMS1_ENST00000432292.3_Intron|PMS1_ENST00000374826.4_Intron|PMS1_ENST00000441310.2_Intron			P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	0					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AGCTTTGTATACAAACATTCT	0.353000			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					3	43					0	0	0.004672	0	0
CEP128	145508	broad.mit.edu	37	14	81259284	81259284	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:81259284C>G	ENST00000555265.1	-	14	1755	c.1380G>C	c.(1378-1380)cgG>cgC	p.R460R	CEP128_ENST00000281129.3_Silent_p.R460R			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	460						centriole|spindle pole				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CACTGAGGTACCGCTCAGCCT	0.537000													8	75					0	0	0.004482	0	0
PTPRG	5793	broad.mit.edu	37	3	62118337	62118337	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:62118337A>G	ENST00000474889.1	+	6	1054	c.677A>G	c.(676-678)cAt>cGt	p.H226R	PTPRG_ENST00000295874.10_Missense_Mutation_p.H226R	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	226	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		GGTGTCGTACATCATGGTAAG	0.438000													35	53					0	0	0.006999	0	0
ITGAM	3684	broad.mit.edu	37	16	31339510	31339510	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:31339510G>T	ENST00000544665.3	+	23	2825	c.2754G>T	c.(2752-2754)ctG>ctT	p.L918L	ITGAM_ENST00000287497.8_Silent_p.L917L	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	917					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AATTCCAACTGGAGCTGCCGG	0.517000													25	61					8.24728e-16	1.52e-15	0.004656	1	0
OR2T27	403239	broad.mit.edu	37	1	248813817	248813817	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:248813817G>T	ENST00000344889.3	-	1	368	c.369C>A	c.(367-369)taC>taA	p.Y123*		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGGCTACGTAGCGATCAT	0.542000													20	47					3.99206e-14	7.21112e-14	0.007413	1	0
C16orf91	283951	broad.mit.edu	37	16	1479269	1479269	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:1479269G>T	ENST00000310355.1	-	1	76	c.77C>A	c.(76-78)tCg>tAg	p.S26*				Q4G0I0	CSMT1_HUMAN	chromosome 16 open reading frame 91	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGCTGTGCCGATGCTGTCCC	0.657000													8	113					0.00307968	0.00360664	0.003080	1	0
CEP152	22995	broad.mit.edu	37	15	49044594	49044594	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:49044594C>A	ENST00000380950.2	-	21	3605	c.3418G>T	c.(3418-3420)Gga>Tga	p.G1140*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.G1047*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.G1140*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1140					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCATGGTGTCCAGCAGCAGGT	0.483000													25	111					3.28513e-13	5.84118e-13	0.003954	1	0
DNAH17	8632	broad.mit.edu	37	17	76565498	76565498	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:76565498T>A	ENST00000389840.5	-	8	1280	c.1156A>T	c.(1156-1158)Acg>Tcg	p.T386S	DNAH17_ENST00000585328.1_Missense_Mutation_p.T386S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTCGTACGTCTGGTAGAGC	0.562000													4	9					0	0	0.000602	0	0
GALC	2581	broad.mit.edu	37	14	88442730	88442730	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:88442730C>A	ENST00000261304.2	-	7	830	c.724G>T	c.(724-726)Gaa>Taa	p.E242*	GALC_ENST00000544807.2_Nonsense_Mutation_p.E186*|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000393568.4_Nonsense_Mutation_p.E219*|GALC_ENST00000393569.2_Nonsense_Mutation_p.E216*	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	242					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTGAAGAGTTCGGCATCAAGG	0.398000													5	46					0.00116845	0.00138989	0.001168	1	0
PLG	5340	broad.mit.edu	37	6	161160109	161160109	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:161160109G>C	ENST00000308192.9	+	16	1950	c.1887G>C	c.(1885-1887)agG>agC	p.R629S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	629	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGTCCCCAAGGCCTTCATCCT	0.507000													24	89					0	0	0.003954	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748265	68748265	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:68748265T>C	ENST00000309106.3	-	1	190	c.191A>G	c.(190-192)tAt>tGt	p.Y64C		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	64						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GTTGAGGATATAGATGCAGAA	0.587000													9	40					0	0	0.008291	0	0
MKL2	57496	broad.mit.edu	37	16	14355224	14355224	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:14355224C>G	ENST00000571589.1	+	17	3395	c.3223C>G	c.(3223-3225)Cct>Gct	p.P1075A	MKL2_ENST00000318282.5_Missense_Mutation_p.P1025A|MKL2_ENST00000341243.5_Missense_Mutation_p.P1064A|MKL2_ENST00000574045.1_Missense_Mutation_p.P1025A	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	1064					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGACTCACTCCTCTCAGCAC	0.527000													4	41					0	0	0.000248	0	0
TNPO3	23534	broad.mit.edu	37	7	128612603	128612603	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:128612603C>A	ENST00000393245.1	-	19	2782	c.2409G>T	c.(2407-2409)cgG>cgT	p.R803R	TNPO3_ENST00000471234.1_Silent_p.R705R|TNPO3_ENST00000471166.1_Silent_p.R803R|TNPO3_ENST00000265388.5_Silent_p.R769R|TNPO3_ENST00000482320.1_Silent_p.R703R	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	769					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CCACTTGGCTCCGCAGCAAGG	0.493000													7	36					3.86212e-05	4.92529e-05	0.008291	1	0
STAU2	27067	broad.mit.edu	37	8	74515961	74515961	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:74515961C>A	ENST00000355780.5	-	9	1151	c.933_splice	c.e9+1	p.Q311_splice	STAU2_ENST00000521210.1_Splice_Site_p.Q239_splice|STAU2_ENST00000519961.1_Splice_Site_p.Q343_splice|STAU2_ENST00000522509.1_Splice_Site_p.Q311_splice|STAU2_ENST00000524300.1_Splice_Site_p.Q343_splice|STAU2_ENST00000522695.1_Splice_Site_p.Q311_splice|STAU2_ENST00000521727.1_Splice_Site_p.Q323_splice|STAU2_ENST00000517542.1_Splice_Site_p.Q305_splice|STAU2_ENST00000523558.1_Splice_Site_p.Q171_splice|STAU2_ENST00000521451.1_Splice_Site_p.Q123_splice	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	343	DRBM 4.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			TTAGAAATACCTGCATCACAA	0.423000													17	27					9.7654e-05	0.000122472	0.007413	1	0
PTCHD4	442213	broad.mit.edu	37	6	47847488	47847488	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:47847488C>A	ENST00000339488.4	-	3	1125	c.1092G>T	c.(1090-1092)gtG>gtT	p.V364V		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	364	SSD.					integral to membrane	hedgehog receptor activity										AGAAGACCTTCACAGCCTCTA	0.458000													6	37					2.0095e-06	2.81e-06	0.001984	1	0
OR10T2	128360	broad.mit.edu	37	1	158368842	158368842	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158368842T>G	ENST00000334438.1	-	1	414	c.415A>C	c.(415-417)Aaa>Caa	p.K139Q		NM_001004475.1	NP_001004475.1	Q8NGX3	O10T2_HUMAN	olfactory receptor, family 10, subfamily T, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_hematologic(112;0.0378)					CCCAGCCTTTTGTTTATGATG	0.478000													9	80					0	0	0.008291	0	0
TRAT1	50852	broad.mit.edu	37	3	108568088	108568088	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:108568088C>A	ENST00000295756.6	+	5	520	c.290C>A	c.(289-291)aCc>aAc	p.T97N	TRAT1_ENST00000426646.1_Missense_Mutation_p.T60N	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	97					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						CAGGAAGCCACCCCATCTGCA	0.373000													14	48					0.000308642	0.000376339	0.003163	1	0
AC096579.13	0	broad.mit.edu	37	2	89157056	89157056	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:89157056G>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA|IGKC_ENST00000390237.2_RNA																							TTACCCGATTGGAGGGCGTTA	0.527000													8	31					5.18039e-06	7.07692e-06	0.003080	1	0
RYR2	6262	broad.mit.edu	37	1	237794803	237794803	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:237794803G>T	ENST00000366574.2	+	42	6834	c.6517G>T	c.(6517-6519)Gag>Tag	p.E2173*	RYR2_ENST00000360064.6_Nonsense_Mutation_p.E2171*|RYR2_ENST00000542537.1_Nonsense_Mutation_p.E2157*	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2173	4 X approximate repeats.				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)			GACTGTGATGGAGGTCATGGT	0.438000													5	23					1.23904e-05	1.64001e-05	0.000602	1	0
SBNO1	55206	broad.mit.edu	37	12	123801789	123801789	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:123801789C>A	ENST00000420886.2	-	20	2913	c.2914G>T	c.(2914-2916)Gat>Tat	p.D972Y	SBNO1_ENST00000602750.1_Missense_Mutation_p.D971Y|SBNO1_ENST00000267176.4_Missense_Mutation_p.D971Y|SBNO1_ENST00000602398.1_Missense_Mutation_p.D972Y	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	972							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTGCTCTATCAGCGCTCCAA	0.413000													11	61					1.08611e-07	1.59577e-07	0.000978	1	0
PAPL	390928	broad.mit.edu	37	19	39591247	39591247	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:39591247C>A	ENST00000594229.1	+	4	567	c.533C>A	c.(532-534)tCa>tAa	p.S178*	PAPL_ENST00000331256.5_Missense_Mutation_p.F219L			Q6ZNF0	PAPL_HUMAN		0						extracellular region	acid phosphatase activity|metal ion binding										AGGCTCGCTTCAGCATGCCGG	0.557000													29	98					6.19805e-25	1.24693e-24	0.005524	1	0
STRIP2	57464	broad.mit.edu	37	7	129096289	129096289	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:129096289G>T	ENST00000249344.2	+	9	884	c.844G>T	c.(844-846)Ggt>Tgt	p.G282C	STRIP2_ENST00000435494.2_Missense_Mutation_p.G282C	NM_020704.2	NP_065755.1			striatin interacting protein 2																		GTTTACCCTCGGTGGATTTGA	0.512000													4	70					1.23904e-05	1.64001e-05	0.000602	1	0
ZC3H14	79882	broad.mit.edu	37	14	89068290	89068290	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:89068290G>C	ENST00000251038.5	+	11	1602	c.1377G>C	c.(1375-1377)atG>atC	p.M459I	ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000406216.3_Intron|ZC3H14_ENST00000302216.8_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000318308.6_Intron|ZC3H14_ENST00000393514.5_Missense_Mutation_p.M434I|ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000555900.1_Missense_Mutation_p.M161I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.M459I|ZC3H14_ENST00000336693.4_Intron	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	459						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TGGAATCCATGGTCCATGCAG	0.388000													9	66					0	0	0.004482	0	0
CCDC158	339965	broad.mit.edu	37	4	77288729	77288729	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:77288729A>G	ENST00000388914.3	-	11	1700	c.1548T>C	c.(1546-1548)aaT>aaC	p.N516N		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	516										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGATCTCTGCATTGGTAGCCT	0.478000													5	69					0	0	0.000602	0	0
MYO18B	84700	broad.mit.edu	37	22	26423548	26423548	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:26423548C>A	ENST00000335473.7	+	43	7858	c.7608C>A	c.(7606-7608)gaC>gaA	p.D2536E	MYO18B_ENST00000407587.2_Missense_Mutation_p.D2537E|MYO18B_ENST00000536101.1_Missense_Mutation_p.D2536E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2536						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TTGCGGGTGACGGTGGCGAGC	0.567000													8	16					2.17888e-05	2.84528e-05	0.006214	1	0
GPR157	80045	broad.mit.edu	37	1	9188741	9188741	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:9188741G>A	ENST00000377411.4	-	1	488	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	GPR157_ENST00000414642.2_Missense_Mutation_p.R116C	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CGATCTGTGCGAGGCCCGCGC	0.672000													4	33					0	0	0.000602	0	0
DEFB110	245913	broad.mit.edu	37	6	49986727	49986727	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:49986727C>A	ENST00000371148.2	-	2	212	c.167G>T	c.(166-168)tGc>tTc	p.C56F	DEFB110_ENST00000393660.2_Intron	NM_001037497.1	NP_001032586.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	56					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					AGGTCTTATGCAGTAAGCAAT	0.408000													10	45					1.76689e-08	2.68584e-08	0.006214	1	0
TUBA3E	112714	broad.mit.edu	37	2	130951770	130951770	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:130951770G>T	ENST00000312988.7	-	4	745	c.645C>A	c.(643-645)cgC>cgA	p.R215R		NM_207312.2	NP_997195.1	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	215					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)					TGTCCAGGTTGCGCCGACATA	0.547000													15	53					7.93312e-07	1.12551e-06	0.002450	1	0
CTSF	8722	broad.mit.edu	37	11	66335045	66335045	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:66335045G>A	ENST00000310325.5	-	3	510	c.401C>T	c.(400-402)gCt>gTt	p.A134V	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	134					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GGGCTCCCCAGCACCTGGAAC	0.557000													21	89					0	0	0.002299	0	0
KIRREL2	84063	broad.mit.edu	37	19	36353928	36353928	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:36353928G>T	ENST00000360202.5	+	13	1913	c.1715G>T	c.(1714-1716)cGc>cTc	p.R572L	KIRREL2_ENST00000586102.2_Missense_Mutation_p.R552L|KIRREL2_ENST00000592409.1_Missense_Mutation_p.R537L|KIRREL2_ENST00000347900.6_Missense_Mutation_p.R522L|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000262625.7_Missense_Mutation_p.R572L	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	572					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			ACAGGCAGCCGCGAGGACCGG	0.577000													3	12					6.4e-05	8.11044e-05	0.004672	1	0
PLVAP	83483	broad.mit.edu	37	19	17476209	17476209	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:17476209C>A	ENST00000252590.4	-	3	1126	c.1065G>T	c.(1063-1065)cgG>cgT	p.R355R		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	355						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCGTTCCTTCCGCAGCACCG	0.617000													15	40					6.72482e-11	1.11971e-10	0.003163	1	0
SYNE1	23345	broad.mit.edu	37	6	152754989	152754989	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:152754989C>A	ENST00000367255.5	-	34	5003	c.4402G>T	c.(4402-4404)Gaa>Taa	p.E1468*	SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E1475*|SYNE1_ENST00000367248.3_3'UTR|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E1468*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.E1468*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E1475*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E1538*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1468					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GCATTGAGTTCTTTTTCTTTC	0.373000										HNSCC(10;0.0054)			13	50					4.3838e-07	6.29161e-07	0.001855	1	0
XYLB	9942	broad.mit.edu	37	3	38438570	38438570	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:38438570C>T	ENST00000207870.3	+	17	1448	c.1358C>T	c.(1357-1359)gCa>gTa	p.A453V	XYLB_ENST00000542835.1_Missense_Mutation_p.A316V|XYLB_ENST00000472721.1_3'UTR	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	453					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		CAGGTGCTTGCAGATGTGTTT	0.512000													13	56					0	0	0.004990	0	0
DCHS2	54798	broad.mit.edu	37	4	155156222	155156222	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:155156222C>G	ENST00000357232.3	-	25	8216	c.8217G>C	c.(8215-8217)gaG>gaC	p.E2739D		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2739					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGATGCTCTCTTTTGCCT	0.473000													6	33					0	0	0.001168	0	0
ATP9A	10079	broad.mit.edu	37	20	50292705	50292705	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:50292705C>A	ENST00000338821.5	-	10	1106	c.842G>T	c.(841-843)cGg>cTg	p.R281L	ATP9A_ENST00000311637.5_Missense_Mutation_p.R145L|ATP9A_ENST00000402822.1_Missense_Mutation_p.R160L	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	281					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CATGACACTCCGGAGTTCTCT	0.443000													10	35					2.17888e-05	2.84528e-05	0.006214	1	0
CCSER1	401145	broad.mit.edu	37	4	91229571	91229571	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:91229571C>T	ENST00000509176.1	+	2	424	c.136C>T	c.(136-138)Cct>Tct	p.P46S	CCSER1_ENST00000333691.8_Missense_Mutation_p.P46S|CCSER1_ENST00000432775.2_Missense_Mutation_p.P46S	NM_001145065.1	NP_001138537.1			coiled-coil serine-rich protein 1																		CAGTTCCTCTCCTTCCAGCAC	0.458000													5	56					0	0	0.000602	0	0
ACTB	60	broad.mit.edu	37	7	5567507	5567507	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:5567507C>T	ENST00000331789.5	-	6	1191	c.1000G>A	c.(1000-1002)Gag>Aag	p.E334K	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	334					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TACTTGCGCTCAGGAGGAGCA	0.627000													10	81					0	0	0.008291	0	0
SH2D3C	10044	broad.mit.edu	37	9	130511506	130511506	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:130511506C>A	ENST00000314830.8	-	5	1236	c.1123G>T	c.(1123-1125)Gat>Tat	p.D375Y	SH2D3C_ENST00000420366.1_Missense_Mutation_p.D217Y|SH2D3C_ENST00000373277.4_Missense_Mutation_p.D218Y|SH2D3C_ENST00000373276.3_Missense_Mutation_p.D307Y|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000429553.1_Missense_Mutation_p.D21Y|SH2D3C_ENST00000373274.3_Missense_Mutation_p.D215Y	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	375					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGGCAGCCATCGCTGCGGGTG	0.607000													5	51					3.59834e-05	4.62352e-05	0.001168	1	0
FIG4	9896	broad.mit.edu	37	6	110112626	110112626	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:110112626C>T	ENST00000230124.3	+	20	2352	c.2228C>T	c.(2227-2229)gCc>gTc	p.A743V	FIG4_ENST00000441478.2_Missense_Mutation_p.A466V	NM_014845.5	NP_055660.1	Q92562	FIG4_HUMAN	FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)	743					cell death	endosome membrane	protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)	32		all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548)		OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079)		AAAACGGCAGCCAGCGCCCCG	0.517000													16	152					0	0	0.001523	0	0
SEC24B	10427	broad.mit.edu	37	4	110434907	110434907	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:110434907T>C	ENST00000265175.5	+	10	1963	c.1908T>C	c.(1906-1908)ccT>ccC	p.P636P	SEC24B_ENST00000504968.2_Silent_p.P666P|SEC24B_ENST00000399100.2_Silent_p.P601P	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	636					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATCTAGTTCCTGAAGAATTTA	0.333000													3	85					0	0	0.000248	0	0
TUBA3D	113457	broad.mit.edu	37	2	132237911	132237911	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:132237911C>A	ENST00000321253.6	+	4	752	c.645C>A	c.(643-645)cgC>cgA	p.R215R	TUBA3D_ENST00000409047.2_3'UTR	NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	215					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TATGTCGGCGCAACCTGGACA	0.547000													8	175					0.00244969	0.00288873	0.002450	1	0
LILRB2	10288	broad.mit.edu	37	19	54783326	54783326	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:54783326G>T	ENST00000391748.1	-	5	659	c.532C>A	c.(532-534)Cgc>Agc	p.R178S	LILRB2_ENST00000314446.5_Missense_Mutation_p.R178S|LILRB2_ENST00000434421.1_Missense_Mutation_p.R62S|LILRB2_ENST00000391749.4_Missense_Mutation_p.R178S|LILRB2_ENST00000391746.1_Missense_Mutation_p.R178S	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	178	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)		AAGATGGCGCGGGACGACCCA	0.577000													24	90					7.87624e-14	1.41897e-13	0.002780	1	0
RAB11FIP1	80223	broad.mit.edu	37	8	37729733	37729733	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:37729733C>A	ENST00000330843.4	-	4	2599	c.2587G>T	c.(2587-2589)Gaa>Taa	p.E863*	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	863					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GATTCCCTTTCTGAGTCCTCT	0.627000													15	66					2.32078e-09	3.67121e-09	0.003163	1	0
KIAA1462	57608	broad.mit.edu	37	10	30336711	30336711	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:30336711G>T	ENST00000375377.1	-	2	132	c.31C>A	c.(31-33)Cat>Aat	p.H11N		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	11										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TTGTATCCATGAGAGATCAGG	0.592000													13	89					0.000151284	0.000188517	0.001855	1	0
CPQ	10404	broad.mit.edu	37	8	97978195	97978195	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:97978195G>T	ENST00000220763.5	+	5	1092	c.882G>T	c.(880-882)tgG>tgT	p.W294C		NM_016134.2	NP_057218.1	Q9Y646	PGCP_HUMAN	carboxypeptidase Q	294					peptide metabolic process|proteolysis	cytoplasm|extracellular space	metal ion binding|metallocarboxypeptidase activity										TGGACAGCTGGGATGTTGGGC	0.358000													8	48					0.000157383	0.000193987	0.003080	1	0
CUL1	8454	broad.mit.edu	37	7	148427288	148427288	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:148427288G>T	ENST00000325222.4	+	2	353	c.74G>T	c.(73-75)aGa>aTa	p.R25I	CUL1_ENST00000409469.1_Missense_Mutation_p.R25I|CUL1_ENST00000602748.1_Missense_Mutation_p.R25I	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	25					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GACGACCTCAGAGCCGGCATC	0.567000													13	67					6.81908e-15	1.24498e-14	0.002450	1	0
ING5	84289	broad.mit.edu	37	2	242650848	242650848	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:242650848G>A	ENST00000313552.6	+	4	359	c.333G>A	c.(331-333)ctG>ctA	p.L111L	ING5_ENST00000406941.1_Silent_p.L111L|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	111					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-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;0.0839)		AAGCAGATCTGAAGGACAAGA	0.383000													6	188					0	0	0.004482	0	0
TPM3	7170	broad.mit.edu	37	1	154163707	154163707	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:154163707C>T	ENST00000368530.2	-	2	390	c.198G>A	c.(196-198)aaG>aaA	p.K66K	TPM3_ENST00000271850.7_Silent_p.K66K	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	65					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCTGGGCATCCTTCAAAGCTT	0.478000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""								6	105					0	0	0.001168	0	0
UGT1A1	54658	broad.mit.edu	37	2	234677057	234677057	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:234677057G>T	ENST00000360418.3	+	4	1276	c.1276G>T	c.(1276-1278)Gct>Tct	p.A426S	UGT1A4_ENST00000373409.3_Missense_Mutation_p.A427S|UGT1A3_ENST00000482026.1_Missense_Mutation_p.A427S|UGT1A6_ENST00000373424.1_Missense_Mutation_p.A158S|UGT1A10_ENST00000344644.5_Missense_Mutation_p.A423S|UGT1A5_ENST00000373414.3_Missense_Mutation_p.A427S|UGT1A1_ENST00000305208.5_Missense_Mutation_p.A426S|UGT1A6_ENST00000406651.1_Missense_Mutation_p.A158S|UGT1A9_ENST00000354728.4_Missense_Mutation_p.A423S|UGT1A6_ENST00000305139.6_Missense_Mutation_p.A425S|UGT1A8_ENST00000373450.4_Missense_Mutation_p.A423S|UGT1A10_ENST00000373445.1_Missense_Mutation_p.A423S|UGT1A7_ENST00000373426.3_Missense_Mutation_p.A423S			P22309	UD11_HUMAN		426					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTAGAAAATGCTCTAAAAGC	0.368000													5	19					1.024e-07	1.51927e-07	0.000602	1	0
MSR1	4481	broad.mit.edu	37	8	16032707	16032707	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:16032707C>A	ENST00000350896.3	-	3	403	c.206G>T	c.(205-207)gGa>gTa	p.G69V	MSR1_ENST00000381998.4_Missense_Mutation_p.G69V|MSR1_ENST00000445506.2_Missense_Mutation_p.G87V|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000355282.2_Missense_Mutation_p.G69V|MSR1_ENST00000262101.5_Missense_Mutation_p.G69V	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	69					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TGCCACTATTCCAATGAGAGG	0.418000													8	27					1.12685e-05	1.50615e-05	0.004482	1	0
FMN2	56776	broad.mit.edu	37	1	240256545	240256545	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:240256545G>A	ENST00000319653.9	+	1	1366	c.1136G>A	c.(1135-1137)gGg>gAg	p.G379E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	379					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CAGAGGCTGGGGGAAGAGCCG	0.726000													4	9					0	0	0.000248	0	0
GABRB1	2560	broad.mit.edu	37	4	47427936	47427936	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:47427936C>A	ENST00000295454.3	+	9	1618	c.1326C>A	c.(1324-1326)gaC>gaA	p.D442E	GABRB1_ENST00000538619.1_Missense_Mutation_p.D372E	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	442					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGATCCCCGACTTGACTGATG	0.557000													16	72					2.23348e-06	3.10409e-06	0.004007	1	0
DUXA	503835	broad.mit.edu	37	19	57666732	57666732	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:57666732G>T	ENST00000554048.2	-	5	446	c.447C>A	c.(445-447)ttC>ttA	p.F149L		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	149						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TTCGATTTTGGAACCAAATCT	0.368000													12	32					1.5842e-08	2.41892e-08	0.001855	1	0
SCN10A	6336	broad.mit.edu	37	3	38797302	38797302	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:38797302C>G	ENST00000449082.2	-	10	1437	c.1438G>C	c.(1438-1440)Gat>Cat	p.D480H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	480					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGTAAGGATCAGAGCGGGGT	0.488000													6	154					0	0	0.004482	0	0
MSLNL	401827	broad.mit.edu	37	16	830355	830355	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:830355G>A	ENST00000293892.3	-	3	645	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGTGGAGCATGCACAGGCGTG	0.602000													9	23					0	0	0.004482	0	0
DNAH5	1767	broad.mit.edu	37	5	13766226	13766226	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:13766226C>T	ENST00000265104.4	-	59	10064	c.9960G>A	c.(9958-9960)atG>atA	p.M3320I	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3320	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATGATCCGCATGATGAGGT	0.537000									Kartagener syndrome				125	97					0	0	0.003610	0	0
MATN2	4147	broad.mit.edu	37	8	98943360	98943360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:98943360G>T	ENST00000254898.5	+	3	553	c.322G>T	c.(322-324)Gag>Tag	p.E108*	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Nonsense_Mutation_p.E108*|MATN2_ENST00000524308.1_Nonsense_Mutation_p.E108*|MATN2_ENST00000521689.1_Nonsense_Mutation_p.E108*	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	108	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTCAAGAATGAGTTCTCCCT	0.542000													7	41					0.00198382	0.00234139	0.001984	1	0
MTIF2	4528	broad.mit.edu	37	2	55471275	55471275	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:55471275C>G	ENST00000394600.3	-	12	1937	c.1201G>C	c.(1201-1203)Gat>Cat	p.D401H	MTIF2_ENST00000263629.4_Missense_Mutation_p.D401H|MTIF2_ENST00000403721.1_Missense_Mutation_p.D401H	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	401					regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						CCATTTTCATCAAACATTAAG	0.398000													4	47					0	0	0.000602	0	0
SEMA6A	57556	broad.mit.edu	37	5	115783231	115783231	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:115783231G>C	ENST00000343348.6	-	19	2958	c.2171C>G	c.(2170-2172)aCg>aGg	p.T724R	SEMA6A_ENST00000510263.1_Missense_Mutation_p.T724R|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T741R|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T151R|SEMA6A_ENST00000503865.1_Missense_Mutation_p.T103R|SEMA6A_ENST00000282394.6_Missense_Mutation_p.T201R	NM_020796.3	NP_065847.1	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	724					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CATGAGTGGCGTGAGGATGGC	0.632000													5	201					0	0	0.000602	0	0
TSLP	85480	broad.mit.edu	37	5	110407649	110407649	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:110407649C>A	ENST00000420978.2	+	2	1483	c.61C>A	c.(61-63)Caa>Aaa	p.Q21K	TSLP_ENST00000344895.3_Missense_Mutation_p.Q21K			Q969D9	TSLP_HUMAN	thymic stromal lymphopoietin	21						extracellular space	cytokine activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11		all_cancers(142;2.72e-05)|all_epithelial(76;4.39e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0417)|Ovarian(225;0.0443)|Colorectal(57;0.0464)|all_lung(232;0.0507)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.24e-08)|Epithelial(69;1.54e-07)|all cancers(49;1.73e-05)|COAD - Colon adenocarcinoma(37;0.109)		CTTCATCTTACAACTTGTAGG	0.388000													32	45					1.30897e-18	2.53602e-18	0.001786	1	0
MUTYH	4595	broad.mit.edu	37	1	45798843	45798843	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:45798843C>A	ENST00000450313.1	-	5	604		c.e5-1		MUTYH_ENST00000488731.2_Intron|MUTYH_ENST00000456914.2_Splice_Site|MUTYH_ENST00000372104.1_Splice_Site|MUTYH_ENST00000372110.3_Splice_Site|MUTYH_ENST00000372100.5_Splice_Site|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Intron|MUTYH_ENST00000372098.3_Splice_Site|MUTYH_ENST00000372115.3_Splice_Site|MUTYH_ENST00000355498.2_Splice_Site|MUTYH_ENST00000528332.2_Intron|MUTYH_ENST00000354383.6_Splice_Site|MUTYH_ENST00000448481.1_Splice_Site	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog						depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GAGACCCACACTGGGGGAAAG	0.617000			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				14	64					1.62849e-17	3.09777e-17	0.004007	1	0
HCLS1	3059	broad.mit.edu	37	3	121376180	121376180	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:121376180T>C	ENST00000314583.3	-	3	195	c.104A>G	c.(103-105)gAg>gGg	p.E35G	HCLS1_ENST00000428394.2_Missense_Mutation_p.E35G	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	35	Involved in HAX-1 binding.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCATCGTTGCTCCTTTTCAGA	0.517000													36	135					0	0	0.004878	0	0
CHRNB3	1142	broad.mit.edu	37	8	42591710	42591710	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:42591710G>T	ENST00000289957.2	+	6	1454	c.1326G>T	c.(1324-1326)tcG>tcT	p.S442S		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	442					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TAACAGGCTCGGTTCTGATTT	0.398000													37	111					4.65686e-17	8.78483e-17	0.003755	1	0
NAP1L2	4674	broad.mit.edu	37	X	72433573	72433573	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:72433573A>T	ENST00000373517.3	-	1	1111	c.756T>A	c.(754-756)gaT>gaA	p.D252E	NAP1L2_ENST00000536638.1_Missense_Mutation_p.D110E	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	252					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GAGTGAGTGTATCAACGTTTT	0.408000													4	46					0	0	0.000602	0	0
HTR1E	3354	broad.mit.edu	37	6	87726077	87726077	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:87726077T>A	ENST00000305344.4	+	2	1728	c.1025T>A	c.(1024-1026)cTg>cAg	p.L342Q	HTR1E_ENST00000369584.1_Missense_Mutation_p.L342Q	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	342					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	ATCAACCCTCTGCTCTATACG	0.433000													48	120					0	0	0.003214	0	0
GPR158	57512	broad.mit.edu	37	10	25883274	25883274	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:25883274C>A	ENST00000376351.3	+	9	2305	c.1946C>A	c.(1945-1947)gCa>gAa	p.A649E	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	649						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CTGTATTTTGCACATACTCAT	0.318000													23	59					1.55469e-16	2.91666e-16	0.003330	1	0
OR5K3	403277	broad.mit.edu	37	3	98109831	98109831	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:98109831G>C	ENST00000383695.1	+	1	322	c.322G>C	c.(322-324)Gaa>Caa	p.E108Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGTCTTGCTGAAACTACAGA	0.438000													44	154					0	0	0.002852	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234308	54234308	+	RNA	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:54234308G>A	ENST00000385068.1	+	0	49					NR_030210.1																						TCTGAAAGAAGAGAAAGCGCT	0.458000													30	58					0	0	0.001786	0	0
F5	2153	broad.mit.edu	37	1	169525938	169525938	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:169525938C>A	ENST00000367796.3	-	6	1099	c.898G>T	c.(898-900)Gtg>Ttg	p.V300L	F5_ENST00000367797.3_Missense_Mutation_p.V300L|F5_ENST00000546081.1_Missense_Mutation_p.V163L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	300	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGGGCCCACAGTCATATTT	0.473000													22	49					1.87028e-06	2.62611e-06	0.001882	1	0
DBX1	120237	broad.mit.edu	37	11	20178115	20178115	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:20178115T>C	ENST00000524983.2	-	4	965	c.677A>G	c.(676-678)aAa>aGa	p.K226R	DBX1_ENST00000227256.3_Missense_Mutation_p.K265R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	226					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						GAACCAGATTTTCACCTGGAA	0.647000													8	72					0	0	0.003080	0	0
FHOD3	80206	broad.mit.edu	37	18	34298017	34298017	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:34298017A>C	ENST00000257209.4	+	16	2353	c.2231A>C	c.(2230-2232)cAg>cCg	p.Q744P	FHOD3_ENST00000590592.1_Missense_Mutation_p.Q919P|FHOD3_ENST00000359247.4_Missense_Mutation_p.Q727P|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000445677.1_Missense_Mutation_p.Q706P	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	727					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)				TCTCAGACCCAGGATGAGAGT	0.592000													11	48					0	0	0.000978	0	0
ZFYVE1	53349	broad.mit.edu	37	14	73464728	73464728	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:73464728G>C	ENST00000556143.1	-	3	1499	c.779C>G	c.(778-780)tCa>tGa	p.S260*	ZFYVE1_ENST00000553891.1_Nonsense_Mutation_p.S260*|ZFYVE1_ENST00000318876.5_Nonsense_Mutation_p.S260*	NM_021260.2	NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	260						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GACGAGGTCTGAGATGGCCAG	0.527000													3	42					0	0	0.004672	0	0
ANO4	121601	broad.mit.edu	37	12	101333107	101333107	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:101333107A>G	ENST00000392979.3	+	3	431	c.70A>G	c.(70-72)Aat>Gat	p.N24D	ANO4_ENST00000538618.1_Missense_Mutation_p.N225D|ANO4_ENST00000392977.3_Missense_Mutation_p.N59D|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	59						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAAGGATGTCAATATTCTTTT	0.398000										HNSCC(74;0.22)			20	112					0	0	0.001882	0	0
LRRN2	10446	broad.mit.edu	37	1	204589036	204589036	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:204589036A>T	ENST00000367175.1	-	1	2297	c.85T>A	c.(85-87)Tgc>Agc	p.C29S	LRRN2_ENST00000367177.3_Missense_Mutation_p.C29S|LRRN2_ENST00000367176.3_Missense_Mutation_p.C29S|LRRN2_ENST00000496057.1_5'UTR			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	29	LRRNT.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TGAGGGGGGCAGGGAACATGC	0.652000													9	26					0	0	0.008291	0	0
RPS6KA5	9252	broad.mit.edu	37	14	91338578	91338578	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:91338578C>A	ENST00000261991.3	-	17	2422	c.2249G>T	c.(2248-2250)aGc>aTc	p.S750I	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.S671I	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	750					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GGTACTGGTGCTAGTCTTTTT	0.488000													9	49					9.70103e-10	1.55811e-09	0.008291	1	0
ATP2B4	493	broad.mit.edu	37	1	203680134	203680134	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:203680134G>T	ENST00000357681.5	+	12	3052	c.1929G>T	c.(1927-1929)cgG>cgT	p.R643R	ATP2B4_ENST00000367218.3_Silent_p.R643R|ATP2B4_ENST00000367219.3_Silent_p.R631R|ATP2B4_ENST00000391954.2_Silent_p.R643R|ATP2B4_ENST00000341360.2_Silent_p.R643R	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	643					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TAGCTTACCGGGACTTCGATG	0.532000													6	40					1.6384e-10	2.69505e-10	0.001984	1	0
DNAH10	196385	broad.mit.edu	37	12	124272402	124272402	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:124272402C>T	ENST00000409039.3	+	10	1315	c.1290C>T	c.(1288-1290)ctC>ctT	p.L430L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	430	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)		GGAACACCCTCAGGCTGTGGA	0.582000													8	36					0	0	0.006214	0	0
AIPL1	23746	broad.mit.edu	37	17	6330023	6330023	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:6330023C>A	ENST00000381129.3	-	5	776	c.696G>T	c.(694-696)ctG>ctT	p.L232L	AIPL1_ENST00000575265.1_Silent_p.L232L|AIPL1_ENST00000576776.1_Intron|AIPL1_ENST00000576307.1_Silent_p.L172L|AIPL1_ENST00000574506.1_Silent_p.L220L|AIPL1_ENST00000571740.1_Silent_p.L224L|AIPL1_ENST00000570466.1_Silent_p.L210L|AIPL1_ENST00000250087.5_Silent_p.L169L	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	232					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGTTGAGGATCAGAGTATTGA	0.582000													10	20					3.86212e-05	4.92529e-05	0.008291	1	0
MAGEB4	4115	broad.mit.edu	37	X	30260943	30260943	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:30260943G>T	ENST00000378982.2	+	1	887	c.691G>T	c.(691-693)Gat>Tat	p.D231Y		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	231	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GGGGATCTATGATGGAAAGAG	0.473000													21	63					2.37509e-13	4.23968e-13	0.001523	1	0
GLIS2	84662	broad.mit.edu	37	16	4385127	4385127	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:4385127G>A	ENST00000262366.3	+	6	1410	c.589G>A	c.(589-591)Gag>Aag	p.E197K	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.E197K			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	197					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGTCAAGCCCGAGAAGGATGC	0.612000													9	55					0	0	0.004482	0	0
PITPNM3	83394	broad.mit.edu	37	17	6358908	6358908	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:6358908G>A	ENST00000262483.8	-	20	2762	c.2675C>T	c.(2674-2676)tCa>tTa	p.S892L	ACKR6_ENST00000421306.3_Missense_Mutation_p.S856L|ACKR6_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2																					CTTTGGGCGTGAGCGGTGGCT	0.692000													6	27					0	0	0.001168	0	0
MARCH6	10299	broad.mit.edu	37	5	10417481	10417481	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:10417481C>T	ENST00000274140.5	+	22	2380	c.2248C>T	c.(2248-2250)Ccc>Tcc	p.P750S	MARCH6_ENST00000510792.1_Missense_Mutation_p.P448S|MARCH6_ENST00000449913.2_Missense_Mutation_p.P702S|MARCH6_ENST00000503788.1_Missense_Mutation_p.P645S	NM_005885.2	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	750					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTGAGGGTTCCCTTGGATCA	0.453000													6	195					0	0	0.003080	0	0
KSR2	283455	broad.mit.edu	37	12	118020126	118020126	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:118020126G>A	ENST00000425217.1	-	6	1177	c.1123C>T	c.(1123-1125)Cgc>Tgc	p.R375C	KSR2_ENST00000339824.5_Missense_Mutation_p.R404C|KSR2_ENST00000302438.5_Missense_Mutation_p.R101C|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	404					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGATCTCTGCGAGGGATCTGC	0.592000													15	80					0	0	0.006122	0	0
GZMA	3001	broad.mit.edu	37	5	54403630	54403630	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:54403630G>T	ENST00000274306.6	+	3	259	c.224G>T	c.(223-225)aGg>aTg	p.R75M		NM_006144.3	NP_006135.1	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	75	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				AGGAACAAAAGGTCCCAGGTC	0.388000													9	21					1.08611e-07	1.59577e-07	0.000978	1	0
UBA6	55236	broad.mit.edu	37	4	68566807	68566807	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:68566807G>A	ENST00000322244.4	-	1	90	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	UBA6_ENST00000420827.2_Nonsense_Mutation_p.Q11*	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	11					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCTTCCCCCTGATGGGCGGCC	0.687000											OREG0016213	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	18	44					0	0	0.006122	0	0
LOC100420587	100420587	broad.mit.edu	37	19	29215191	29215191	+	RNA	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:29215191T>A	ENST00000592347.1	-	0	350																											AGAACTCAGCTGTGAATTCCC	0.448000													7	29					0	0	0.003080	0	0
SCN2A	6326	broad.mit.edu	37	2	166229750	166229750	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:166229750T>A	ENST00000357398.3	+	21	4155	c.3865T>A	c.(3865-3867)Tta>Ata	p.L1289I	SCN2A_ENST00000375427.2_Missense_Mutation_p.L1289I|SCN2A_ENST00000375437.2_Missense_Mutation_p.L1289I|SCN2A_ENST00000283256.6_Missense_Mutation_p.L1289I			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1289					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACTGGTTAGCTTAACTGCAAA	0.413000													27	95					0	0	0.001786	0	0
CACNA1E	777	broad.mit.edu	37	1	181741320	181741320	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:181741320C>A	ENST00000526775.1	+	36	5200	c.5035C>A	c.(5035-5037)Ctg>Atg	p.L1679M	CACNA1E_ENST00000367570.1_Missense_Mutation_p.L1698M|CACNA1E_ENST00000360108.3_Missense_Mutation_p.L1679M|CACNA1E_ENST00000367573.2_Missense_Mutation_p.L1698M|CACNA1E_ENST00000367567.4_Missense_Mutation_p.L1305M|CACNA1E_ENST00000357570.5_Missense_Mutation_p.L1649M|CACNA1E_ENST00000358338.5_Missense_Mutation_p.L1630M	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1698					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGCACCGATCTGGCCTACGT	0.552000													17	111					5.35267e-07	7.65791e-07	0.007413	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43828094	43828094	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:43828094G>T	ENST00000389420.3	-	19	2673	c.2674C>A	c.(2674-2676)Ctt>Att	p.L892I	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.L892I|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.L46I	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	892	TSP type-1 2.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AATGATGGAAGTGGCAAGTGG	0.338000													7	12					0.000157383	0.000193987	0.003080	1	0
ZNF417	147687	broad.mit.edu	37	19	58420783	58420783	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:58420783C>A	ENST00000312026.5	-	3	1027	c.863G>T	c.(862-864)cGa>cTa	p.R288L	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.R287L|ZNF417_ENST00000536263.1_Missense_Mutation_p.R89L	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AGTGTGGACTCGCTGATGTTG	0.458000													31	107					5.45727e-16	1.00852e-15	0.008361	1	0
ADAMTS7	11173	broad.mit.edu	37	15	79090375	79090375	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:79090375C>G	ENST00000388820.4	-	3	747	c.537G>C	c.(535-537)caG>caC	p.Q179H	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	179					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCACATGGGGCTGGGCGTGGC	0.627000													16	46					0	0	0.004007	0	0
OR51G1	79324	broad.mit.edu	37	11	4945465	4945465	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:4945465G>A	ENST00000321961.2	-	1	172	c.105C>T	c.(103-105)ttC>ttT	p.F35F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	35					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)		TCAGGTAGATGAAGCAGAAGG	0.478000													4	53					0	0	0.000602	0	0
EIF5B	9669	broad.mit.edu	37	2	99988139	99988139	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:99988139G>A	ENST00000289371.5	+	9	1700	c.1498G>A	c.(1498-1500)Gat>Aat	p.D500N		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	500					regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGATACTGAGGATGCTGGATT	0.333000													4	24					0	0	0.000602	0	0
LAS1L	81887	broad.mit.edu	37	X	64734730	64734730	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:64734730C>A	ENST00000374811.3	-	13	2091	c.2051G>T	c.(2050-2052)cGg>cTg	p.R684L	LAS1L_ENST00000374804.5_Missense_Mutation_p.R625L|LAS1L_ENST00000374807.5_Missense_Mutation_p.R667L|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	684						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						GGGTTCCAGCCGCTGCTCTAG	0.557000													6	9					3.59834e-05	4.62352e-05	0.001168	1	0
MC2R	4158	broad.mit.edu	37	18	13885436	13885436	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:13885436C>A	ENST00000327606.3	-	2	262	c.82G>T	c.(82-84)Gag>Tag	p.E28*		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	28					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AATATCTCCTCCGGCAAAACC	0.413000													9	36					0.00621372	0.00717819	0.006214	1	0
CTCFL	140690	broad.mit.edu	37	20	56098847	56098847	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:56098847G>T	ENST00000426658.2	-	1	1076	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	CTCFL_ENST00000371196.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000243914.3_Missense_Mutation_p.Q139K|CTCFL_ENST00000433949.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000432255.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000429804.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000423479.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000422869.2_Missense_Mutation_p.Q139K|CTCFL_ENST00000422109.2_Missense_Mutation_p.Q139K			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	139					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			AGCTCTTGCTGGATACTAATG	0.582000													27	91					3.73988e-18	7.2047e-18	0.006320	1	0
RGS22	26166	broad.mit.edu	37	8	101065078	101065078	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:101065078G>C	ENST00000360863.6	-	10	1835	c.1641C>G	c.(1639-1641)ctC>ctG	p.L547L	RGS22_ENST00000523287.1_Silent_p.L366L|RGS22_ENST00000523437.1_Silent_p.L535L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	547					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTAATGGCAAGAGGGTTGCCA	0.423000													4	165					0	0	0.000602	0	0
LRP2	4036	broad.mit.edu	37	2	170058194	170058194	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170058194A>T	ENST00000263816.3	-	44	8681	c.8396T>A	c.(8395-8397)aTc>aAc	p.I2799N		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2799	LDL-receptor class A 18.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCATTGCAGATAAACTCACG	0.438000													13	43					0	0	0.002450	0	0
DIO3	1735	broad.mit.edu	37	14	102028467	102028467	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:102028467T>A	ENST00000510508.4	+	1	780	c.634T>A	c.(634-636)Tct>Act	p.S212T	DIO3_ENST00000359323.3_Missense_Mutation_p.S186T			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	186					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				CACCACGGACTCTCCCTACAT	0.647000													19	59					0	0	0.001216	0	0
BUB1	699	broad.mit.edu	37	2	111431931	111431931	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:111431931G>A	ENST00000302759.6	-	2	156	c.38C>T	c.(37-39)gCc>gTc	p.A13V	BUB1_ENST00000409311.1_Missense_Mutation_p.A13V|BUB1_ENST00000535254.1_Intron	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	13	BUB1 N-terminal.|Necessary for kinetochore localization.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CTGCATGTGGGCTTCAAGCAT	0.378000													14	38					0	0	0.004990	0	0
LRRN3	54674	broad.mit.edu	37	7	110763749	110763749	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:110763749C>A	ENST00000451085.1	+	4	1967	c.921C>A	c.(919-921)aaC>aaA	p.N307K	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N307K|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N307K|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	307						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		CTGTGGATAACCTGCCAGATT	0.398000													8	69					5.18039e-06	7.07692e-06	0.003080	1	0
KCNH8	131096	broad.mit.edu	37	3	19295220	19295220	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:19295220G>T	ENST00000328405.2	+	2	417	c.151G>T	c.(151-153)Gag>Tag	p.E51*		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	51	PAS.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGGCTTCTGCGAGCTTGCTGG	0.448000													46	103					6.08268e-21	1.20416e-20	0.003610	1	0
CLCNKA	1187	broad.mit.edu	37	1	16350360	16350360	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:16350360C>A	ENST00000375692.1	+	4	294	c.166C>A	c.(166-168)Ctc>Atc	p.L56I	CLCNKA_ENST00000331433.4_Missense_Mutation_p.L56I|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.L56I|CLCNKA_ENST00000420078.1_Missense_Mutation_p.L56I			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	56					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCTGATGACCCTCGGGGTGCT	0.597000													8	42					5.4927e-09	8.54978e-09	0.004482	1	0
PZP	5858	broad.mit.edu	37	12	9354948	9354948	+	Silent	SNP	G	G	T	rs143334338		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:9354948G>T	ENST00000261336.2	-	4	475	c.447C>A	c.(445-447)tcC>tcA	p.S149S	PZP_ENST00000381997.2_Silent_p.S18S	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTTCATCCACGGAGACAACAC	0.453000													4	74					0.00116845	0.00138989	0.001168	1	0
CFH	3075	broad.mit.edu	37	1	196670456	196670456	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:196670456C>T	ENST00000439155.2	+	10	1585	c.1345C>T	c.(1345-1347)Ctc>Ttc	p.L449F	CFH_ENST00000367429.4_Intron|CFH_ENST00000359637.2_Missense_Mutation_p.L385F	NM_001014975.2	NP_001014975.1	P08603	CFAH_HUMAN	complement factor H	0	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						aggctttaccctctgaacttc	0.468000													7	59					0	0	0.001984	0	0
FAM83B	222584	broad.mit.edu	37	6	54806636	54806636	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:54806636C>A	ENST00000306858.7	+	5	2983	c.2867C>A	c.(2866-2868)aCc>aAc	p.T956N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	956										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					ATGCCAAATACCAGTATAAAT	0.413000													17	56					9.16793e-09	1.41093e-08	0.004990	1	0
OR56B4	196335	broad.mit.edu	37	11	6129645	6129645	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:6129645G>C	ENST00000316529.3	+	1	732	c.637G>C	c.(637-639)Gtt>Ctt	p.V213L	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	213					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATGGGTCTTGGTTGGGAGTGA	0.478000													40	151					0	0	0.006999	0	0
RYR2	6262	broad.mit.edu	37	1	237791243	237791243	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:237791243C>A	ENST00000366574.2	+	41	6620	c.6303C>A	c.(6301-6303)gcC>gcA	p.A2101A	RYR2_ENST00000360064.6_Silent_p.A2099A|RYR2_ENST00000542537.1_Silent_p.A2085A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2101	4 X approximate repeats.				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)			TTGTTCGGGCCCTGCCAAAGA	0.562000													9	27					2.74318e-10	4.49064e-10	0.006214	1	0
ADAMTSL1	92949	broad.mit.edu	37	9	18635992	18635992	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:18635992T>C	ENST00000380548.4	+	6	992	c.653T>C	c.(652-654)gTc>gCc	p.V218A	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.V218A|ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.V218A|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.V218A	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	218						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ATTCGCCTTGTCTTAAAAGGT	0.353000													20	55					0	0	0.001882	0	0
NRAP	4892	broad.mit.edu	37	10	115364431	115364431	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:115364431G>T	ENST00000369358.4	-	35	4432	c.4188C>A	c.(4186-4188)ttC>ttA	p.F1396L	NRAP_ENST00000369360.3_Missense_Mutation_p.F1361L|NRAP_ENST00000359988.3_Missense_Mutation_p.F1388L|NRAP_ENST00000360478.3_Missense_Mutation_p.F1353L			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1388						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		GCAGTGCTGTGAACTTGTGAT	0.597000													15	41					1.49906e-05	1.97458e-05	0.002450	1	0
OR6B2	389090	broad.mit.edu	37	2	240969653	240969653	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:240969653G>T	ENST00000402971.2	-	1	253	c.194C>A	c.(193-195)tCc>tAc	p.S65Y		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GAAAGACATGGAGCTCAGAAA	0.557000													11	88					9.70103e-10	1.55811e-09	0.008291	1	0
TPK1	27010	broad.mit.edu	37	7	144245632	144245632	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:144245632C>A	ENST00000549981.1	-	10	937	c.214G>T	c.(214-216)Gga>Tga	p.G72*	TPK1_ENST00000378099.3_Nonsense_Mutation_p.G140*|TPK1_ENST00000538212.2_Nonsense_Mutation_p.G135*|TPK1_ENST00000360057.3_Nonsense_Mutation_p.G189*|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	189					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	CAAGGCTGTCCAACAGGAATA	0.418000													15	88					2.35188e-11	3.99908e-11	0.006122	1	0
HACE1	57531	broad.mit.edu	37	6	105300216	105300216	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:105300216G>A	ENST00000262903.4	-	2	383	c.107C>T	c.(106-108)cCa>cTa	p.P36L	HACE1_ENST00000369125.2_Missense_Mutation_p.P36L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	36					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CATAACCATTGGCATTAATGT	0.353000													10	32					0	0	0.008291	0	0
SPAG17	200162	broad.mit.edu	37	1	118596629	118596629	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:118596629A>T	ENST00000336338.5	-	20	2875	c.2810T>A	c.(2809-2811)cTc>cAc	p.L937H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	937						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		gaTTACCTTGAGAGAGCCTTC	0.353000													5	27					0	0	0.000602	0	0
SENP2	59343	broad.mit.edu	37	3	185307917	185307917	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:185307917A>G	ENST00000296257.5	+	2	357	c.117A>G	c.(115-117)acA>acG	p.T39T	SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000545472.1_Silent_p.T29T	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	39				T -> TA (in Ref. 1; AAG15309).	mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TGTTTTCTACAGTGGACACTG	0.259000													13	26					0	0	0.002450	0	0
HIVEP2	3097	broad.mit.edu	37	6	143092296	143092296	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:143092296C>G	ENST00000367603.2	-	5	4322	c.3580G>C	c.(3580-3582)Gag>Cag	p.E1194Q	HIVEP2_ENST00000367604.1_Missense_Mutation_p.E1194Q|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E1194Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGAATTGTCTCTTGATGTGGA	0.433000													22	132					0	0	0.003330	0	0
IL1B	3553	broad.mit.edu	37	2	113588914	113588914	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:113588914G>T	ENST00000263341.2	-	6	762	c.552C>A	c.(550-552)taC>taA	p.Y184*	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	184					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	CGCAGGACAGGTACAGATTCT	0.463000													45	129					3.4345e-17	6.49692e-17	0.002852	1	0
PBX1	5087	broad.mit.edu	37	1	164769120	164769120	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:164769120A>T	ENST00000420696.2	+	4	883	c.695A>T	c.(694-696)gAt>gTt	p.D232V	PBX1_ENST00000540236.1_Missense_Mutation_p.D232V|PBX1_ENST00000367897.1_Missense_Mutation_p.D232V|PBX1_ENST00000401534.1_Missense_Mutation_p.D232V|PBX1_ENST00000560641.1_Missense_Mutation_p.D127V|PBX1_ENST00000559240.1_Missense_Mutation_p.D232V|PBX1_ENST00000540246.1_Missense_Mutation_p.D127V	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	232					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						CGATTTCTGGATGCGCGGTGA	0.612000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								5	16					0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	216243601	216243601	+	Missense_Mutation	SNP	C	C	A	rs149465057		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:216243601C>A	ENST00000366943.2	-	30	6277	c.5891G>T	c.(5890-5892)cGc>cTc	p.R1964L	USH2A_ENST00000307340.3_Missense_Mutation_p.R1964L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1964	Fibronectin type-III 6.				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)		ATTTAAGCTGCGGACTCTTGA	0.443000										HNSCC(13;0.011)			19	44					3.32936e-07	4.79851e-07	0.006122	1	0
DGKK	139189	broad.mit.edu	37	X	50136178	50136178	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:50136178C>A	ENST00000376025.2	-	0	1626							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TTCAATAAGTCGAACACTTGA	0.433000													4	13					1.024e-07	1.51927e-07	0.000602	1	0
EVPL	2125	broad.mit.edu	37	17	74005011	74005011	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:74005011G>A	ENST00000301607.3	-	22	4528	c.4275C>T	c.(4273-4275)ttC>ttT	p.F1425F	EVPL_ENST00000586740.1_Silent_p.F1447F	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1425	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGTCCTCCTGGAAGCTGAGCA	0.692000													11	61					0	0	0.001855	0	0
OR51L1	119682	broad.mit.edu	37	11	5020306	5020306	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:5020306C>A	ENST00000321543.1	+	1	94	c.94C>A	c.(94-96)Ctc>Atc	p.L32I		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTCCATCCTCTTCTGTCT	0.428000													51	137					1.33152e-38	2.74362e-38	0.003610	1	0
MKI67	4288	broad.mit.edu	37	10	129904768	129904768	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:129904768C>A	ENST00000368654.3	-	13	5711	c.5336G>T	c.(5335-5337)gGc>gTc	p.G1779V	MKI67_ENST00000368653.3_Missense_Mutation_p.G1419V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1779	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)				CATGGCTTTGCCTGCTGATGG	0.473000													50	96					1.30916e-28	2.65735e-28	0.003610	1	0
HTR3B	9177	broad.mit.edu	37	11	113813800	113813800	+	Missense_Mutation	SNP	C	C	T	rs138362802	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:113813800C>T	ENST00000260191.2	+	7	1050	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S	HTR3B_ENST00000537778.1_Missense_Mutation_p.P254S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	265					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CTACCTGCCACCCAACTGCCG	0.582000													10	39					0	0	0.008291	0	0
KBTBD7	84078	broad.mit.edu	37	13	41768245	41768245	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:41768245A>G	ENST00000379483.3	-	1	457	c.149T>C	c.(148-150)cTg>cCg	p.L50P		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	50							protein binding	p.L40fs*12(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		GAGCTGTGCCAGCAGGGCTGC	0.627000													38	55					0	0	0.006230	0	0
MPPED1	758	broad.mit.edu	37	22	43821208	43821208	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:43821208G>T	ENST00000417669.1	+	2	661	c.217G>T	c.(217-219)Gtg>Ttg	p.V73L	MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.V73L|MPPED1_ENST00000443721.1_Missense_Mutation_p.V73L|MPPED1_ENST00000538182.1_Missense_Mutation_p.V106L			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	73							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GCCACCGCATGTGCAGATGTA	0.657000													9	15					0.00448238	0.00522241	0.004482	1	0
UACA	55075	broad.mit.edu	37	15	70991943	70991943	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:70991943C>A	ENST00000322954.6	-	2	320	c.135G>T	c.(133-135)ggG>ggT	p.G45G	UACA_ENST00000539319.1_Silent_p.G45G|UACA_ENST00000379983.2_Silent_p.G32G|UACA_ENST00000560441.1_Silent_p.G32G	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	45						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTCTACATCCCCCCTTTCTG	0.373000													14	82					1.49906e-05	1.97458e-05	0.002450	1	0
SLC19A3	80704	broad.mit.edu	37	2	228560738	228560738	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:228560738G>C	ENST00000258403.3	-	4	1110	c.1039C>G	c.(1039-1041)Ctg>Gtg	p.L347V	SLC19A3_ENST00000541617.1_Missense_Mutation_p.L343V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	347					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ACCAGAGCCAGCTCTCCCAGA	0.448000													23	45					0	0	0.002299	0	0
CUL4A	8451	broad.mit.edu	37	13	113893788	113893788	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:113893788G>T	ENST00000451881.1	+	10	907	c.658G>T	c.(658-660)Gca>Tca	p.A220S	CUL4A_ENST00000326335.4_Missense_Mutation_p.A220S|CUL4A_ENST00000375441.3_Missense_Mutation_p.A220S|CUL4A_ENST00000375440.4_Missense_Mutation_p.A320S	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	320					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			GCCGGACCTCGCACAGATGTA	0.582000													28	55					7.41945e-09	1.14703e-08	0.005443	1	0
GPR173	54328	broad.mit.edu	37	X	53106005	53106005	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:53106005G>T	ENST00000332582.4	+	2	693	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	68						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D68Y(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GTGCCTGGCCGATGGCATACG	0.602000													22	45					4.35082e-09	6.84274e-09	0.001523	1	0
CCDC170	80129	broad.mit.edu	37	6	151936691	151936691	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:151936691G>A	ENST00000367290.5	+	10	1934	c.1845G>A	c.(1843-1845)ctG>ctA	p.L615L	CCDC170_ENST00000239374.7_Silent_p.L608L			Q8IYT3	CF097_HUMAN	coiled-coil domain containing 170	608																	AGTCAGAACTGGATACCACAG	0.398000													36	93					0	0	0.005524	0	0
CCDC83	220047	broad.mit.edu	37	11	85630410	85630410	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:85630410C>A	ENST00000280245.4	+	12	1704	c.1192C>A	c.(1192-1194)Ccc>Acc	p.P398T	RP11-90K17.2_ENST00000531414.1_RNA|CCDC83_ENST00000376067.1_Missense_Mutation_p.P267T|CCDC83_ENST00000342404.3_Missense_Mutation_p.P367T	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	367										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				AAACTTGGGCCCCCTGGGAGT	0.408000													25	58					8.58068e-18	1.64142e-17	0.007291	1	0
IGLV5-37	28783	broad.mit.edu	37	22	22782367	22782367	+	RNA	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:22782367C>A	ENST00000390300.2	+	0	370																											CCAAGCAATGCTTCTCACAGT	0.418000													38	81					1.96642e-18	3.79895e-18	0.006999	1	0
COL4A6	1288	broad.mit.edu	37	X	107407909	107407909	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:107407909G>A	ENST00000334504.7	-	40	4223	c.3990C>T	c.(3988-3990)ggC>ggT	p.G1330G	COL4A6_ENST00000394872.2_Silent_p.G1331G|COL4A6_ENST00000372216.4_Silent_p.G1331G|COL4A6_ENST00000538570.1_Intron|COL4A6_ENST00000545689.1_Silent_p.G1306G	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1331	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCCCCATGAAGCCAGGCTCAC	0.597000									Alport syndrome with Diffuse Leiomyomatosis				23	36					0	0	0.002780	0	0
NISCH	11188	broad.mit.edu	37	3	52524743	52524743	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:52524743C>A	ENST00000345716.4	+	19	3770	c.3636C>A	c.(3634-3636)acC>acA	p.T1212T	NISCH_ENST00000479054.1_Silent_p.T1212T	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1212					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		AGAAAAACACCGACTACAACA	0.532000													23	76					1.55469e-16	2.91666e-16	0.003330	1	0
CPEB1	64506	broad.mit.edu	37	15	83226674	83226674	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:83226674G>T	ENST00000563800.1	-	4	2248	c.523C>A	c.(523-525)Cct>Act	p.P175T	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000564522.1_Missense_Mutation_p.P73T|CPEB1_ENST00000261723.6_Missense_Mutation_p.P151T|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.P73T|CPEB1_ENST00000562019.1_Missense_Mutation_p.P148T|CPEB1_ENST00000398591.2_Missense_Mutation_p.P73T|CPEB1_ENST00000568128.1_Missense_Mutation_p.P148T|CPEB1_ENST00000450751.2_Missense_Mutation_p.P73T|CPEB1_ENST00000423133.2_Missense_Mutation_p.P73T			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	148					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GGATCCAGAGGCAGGAAGCTC	0.532000													10	58					7.48243e-07	1.06379e-06	0.006214	1	0
HCRTR2	3062	broad.mit.edu	37	6	55142304	55142304	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:55142304C>G	ENST00000370862.3	+	5	1225	c.889C>G	c.(889-891)Cga>Gga	p.R297G		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	297					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AAAGCAGATCCGAGCCAGAAG	0.493000													6	29					0	0	0.001168	0	0
FURIN	5045	broad.mit.edu	37	15	91423431	91423431	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:91423431A>G	ENST00000268171.3	+	13	1763	c.1484A>G	c.(1483-1485)tAt>tGt	p.Y495C		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	495					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACCCTGTCCTATAATCGCCGT	0.692000													4	22					0	0	0.000602	0	0
NRXN1	9378	broad.mit.edu	37	2	50463932	50463932	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:50463932G>T	ENST00000404971.1	-	19	5000	c.3661C>A	c.(3661-3663)Cat>Aat	p.H1221N	NRXN1_ENST00000406316.2_Missense_Mutation_p.H1181N|NRXN1_ENST00000406859.3_Missense_Mutation_p.H1181N|NRXN1_ENST00000402717.3_Missense_Mutation_p.H1173N|NRXN1_ENST00000401669.2_Missense_Mutation_p.H1181N|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.H1173N|NRXN1_ENST00000401710.1_Missense_Mutation_p.H199N|NRXN1_ENST00000342183.5_Missense_Mutation_p.H146N	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1181	Laminin G-like 6.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.H1181N(1)|p.H1221N(1)|p.H1222N(1)|p.H146N(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTACTATATGCAGTTCTAGG	0.398000													10	18					7.48243e-07	1.06379e-06	0.006214	1	0
WDFY3	23001	broad.mit.edu	37	4	85731345	85731345	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:85731345T>C	ENST00000322366.6	-	14	2447	c.2040A>G	c.(2038-2040)caA>caG	p.Q680Q	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_Silent_p.Q680Q			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	680						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTCAAACACTTGATTCTGGT	0.438000													4	98					0	0	0.000602	0	0
GBP6	163351	broad.mit.edu	37	1	89848344	89848344	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:89848344G>T	ENST00000370456.4	+	8	1367	c.1274G>T	c.(1273-1275)aGt>aTt	p.S425I	GBP6_ENST00000535065.1_Missense_Mutation_p.S295I	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	425							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCAGCAGGAAGTTTCTCTGTT	0.443000													15	58					1.05317e-09	1.68359e-09	0.002450	1	0
COL24A1	255631	broad.mit.edu	37	1	86289273	86289273	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:86289273C>A	ENST00000370571.2	-	45	4102		c.e45-1		COL24A1_ENST00000436319.1_Splice_Site	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1						cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGTTCGCCCTTTAGTAGAA	0.333000													6	39					4.096e-09	6.44942e-09	0.001168	1	0
CASP5	838	broad.mit.edu	37	11	104874094	104874094	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:104874094C>A	ENST00000393141.2	-	4	520	c.489G>T	c.(487-489)gaG>gaT	p.E163D	CASP5_ENST00000393139.2_Intron|CASP5_ENST00000444749.2_Missense_Mutation_p.E92D|CASP5_ENST00000531367.1_Missense_Mutation_p.E8D|CASP5_ENST00000418434.1_Missense_Mutation_p.E8D|CASP5_ENST00000526056.1_Missense_Mutation_p.E163D|CASP5_ENST00000260315.3_Missense_Mutation_p.E150D	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	150					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		GTGGTCCAGCCTCGATTTGCA	0.403000													25	104					2.12542e-12	3.68766e-12	0.006320	1	0
ADAMTS12	81792	broad.mit.edu	37	5	33576225	33576225	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33576225G>T	ENST00000504830.1	-	19	4241	c.3906C>A	c.(3904-3906)gcC>gcA	p.A1302A	ADAMTS12_ENST00000352040.3_Silent_p.A1217A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1302	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTAATTGGAGGCATTTAGCA	0.473000										HNSCC(64;0.19)			46	252					6.61955e-31	1.34967e-30	0.003610	1	0
MALT1	10892	broad.mit.edu	37	18	56414758	56414758	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:56414758G>T	ENST00000348428.3	+	17	2417	c.2159G>T	c.(2158-2160)gGt>gTt	p.G720V	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G709V	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	720					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ATGCATCGAGGTTTGGGAAGG	0.433000			T	BIRC3	MALT								21	85					2.21704e-12	3.83685e-12	0.002780	1	0
KDM3B	51780	broad.mit.edu	37	5	137727287	137727287	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:137727287G>T	ENST00000314358.5	+	8	2166	c.1966G>T	c.(1966-1968)Gca>Tca	p.A656S	KDM3B_ENST00000394866.1_Missense_Mutation_p.A312S|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688.2	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	656	Ser-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TGCATCTCAGGCATCAGGTAG	0.507000													28	33					4.22769e-11	7.12639e-11	0.006320	1	0
GOLGA6B	55889	broad.mit.edu	37	15	72954782	72954782	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:72954782T>A	ENST00000421285.3	+	11	1037	c.1037T>A	c.(1036-1038)cTc>cAc	p.L346H		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	346										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						GAGGAGATGCTCCGAGAGCAG	0.562000													77	359					0	0	0.003610	0	0
TNPO3	23534	broad.mit.edu	37	7	128612604	128612604	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:128612604C>A	ENST00000393245.1	-	19	2781	c.2408G>T	c.(2407-2409)cGg>cTg	p.R803L	TNPO3_ENST00000471234.1_Missense_Mutation_p.R705L|TNPO3_ENST00000471166.1_Missense_Mutation_p.R803L|TNPO3_ENST00000265388.5_Missense_Mutation_p.R769L|TNPO3_ENST00000482320.1_Missense_Mutation_p.R703L	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	769					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CACTTGGCTCCGCAGCAAGGT	0.498000													8	36					3.07112e-06	4.22939e-06	0.000978	1	0
NXF5	55998	broad.mit.edu	37	X	101096947	101096947	+	Splice_Site	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:101096947T>A	ENST00000537026.1	-	4	411		c.e4-2		NXF5_ENST00000473265.2_Splice_Site|NXF5_ENST00000361708.2_Splice_Site	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5						mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						ATAAGGAATCTAAGCATAAAA	0.398000													38	62					0	0	0.003755	0	0
GDPD4	220032	broad.mit.edu	37	11	76928284	76928284	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:76928284G>A	ENST00000376217.2	-	17	1820	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	524					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						TCCACAACTCGGACAGGAGGT	0.463000													10	33					0	0	0.006214	0	0
FOLH1B	219595	broad.mit.edu	37	11	89409322	89409322	+	RNA	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:89409322A>T	ENST00000532352.1	+	0	1247							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATTAATGCTGACTCATCTATA	0.373000													15	62					0	0	0.004990	0	0
ASB15	142685	broad.mit.edu	37	7	123257734	123257734	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:123257734G>T	ENST00000451558.1	+	9	915	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	RP11-390E23.3_ENST00000422401.1_RNA|ASB15_ENST00000451215.1_Nonsense_Mutation_p.E132*|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Nonsense_Mutation_p.E132*|ASB15_ENST00000540573.1_Nonsense_Mutation_p.E132*|ASB15_ENST00000275699.3_Nonsense_Mutation_p.E132*|RP11-390E23.3_ENST00000440504.1_RNA			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	132					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AACTTTATTAGAAAAGGGAGT	0.388000													10	45					2.80697e-09	4.43001e-09	0.000978	1	0
LRBA	987	broad.mit.edu	37	4	151827516	151827516	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:151827516G>A	ENST00000535741.1	-	12	2008	c.1535C>T	c.(1534-1536)tCa>tTa	p.S512L	LRBA_ENST00000510413.1_Missense_Mutation_p.S512L|LRBA_ENST00000507224.1_Missense_Mutation_p.S512L|LRBA_ENST00000357115.3_Missense_Mutation_p.S512L			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	512						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CATAGCAATTGAGTTCTTCAA	0.308000													5	118					0	0	0.001984	0	0
NOVA1	4857	broad.mit.edu	37	14	26917911	26917911	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:26917911C>A	ENST00000539517.2	-	5	1095	c.778G>T	c.(778-780)Ggt>Tgt	p.G260C	NOVA1_ENST00000465357.2_Missense_Mutation_p.G236C|NOVA1_ENST00000267422.7_Missense_Mutation_p.G138C	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	263					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GCCACTGGACCTGTCACATTG	0.453000													10	109					5.16669e-11	8.65563e-11	0.000978	1	0
CEP164	22897	broad.mit.edu	37	11	117234214	117234214	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:117234214G>C	ENST00000278935.3	+	8	904	c.757G>C	c.(757-759)Gag>Cag	p.E253Q		NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	253					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGGTGACTTTGAGTATGAGGT	0.458000													5	46					0	0	0.000602	0	0
OFD1	8481	broad.mit.edu	37	X	13764935	13764935	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:13764935A>G	ENST00000380567.1	+	9	1143	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	OFD1_ENST00000340096.6_Missense_Mutation_p.K231E|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.K231E|OFD1_ENST00000398395.3_Missense_Mutation_p.K231E			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	231	LisH.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGCAAAAATTAAAATGGAAGC	0.299000													14	27					0	0	0.003163	0	0
MAP1LC3C	440738	broad.mit.edu	37	1	242161836	242161836	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:242161836G>A	ENST00000357246.3	-	3	265	c.201C>T	c.(199-201)acC>acT	p.T67T		NM_001004343.2	NP_001004343.1	Q9BXW4	MLP3C_HUMAN	microtubule-associated protein 1 light chain 3 gamma	67					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule	protein binding	p.T67T(1)		endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGAGGAACTGGGTCATGGTCA	0.622000											OREG0014354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	44					0	0	0.004482	0	0
ITIH2	3698	broad.mit.edu	37	10	7755193	7755193	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:7755193G>T	ENST00000358415.4	+	5	578	c.412G>T	c.(412-414)Ggc>Tgc	p.G138C	ITIH2_ENST00000379587.4_Missense_Mutation_p.G127C|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	138	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAAAACTGTGGGCCGAGCTCT	0.483000													11	74					0.00185496	0.00220266	0.001855	1	0
ACSM2B	348158	broad.mit.edu	37	16	20565129	20565129	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:20565129C>A	ENST00000329697.6	-	5	878	c.710G>T	c.(709-711)aGc>aTc	p.S237I	ACSM2B_ENST00000565322.1_Missense_Mutation_p.S158I|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.S237I|ACSM2B_ENST00000567001.1_Missense_Mutation_p.S237I	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	237					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GAGGCCCAGGCTCGAGTAGGA	0.507000													6	72					1.12685e-05	1.50615e-05	0.004482	1	0
SLC16A12	387700	broad.mit.edu	37	10	91198926	91198926	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:91198926G>C	ENST00000341233.4	-	6	763	c.373C>G	c.(373-375)Ctt>Gtt	p.L125V	SLC16A12_ENST00000371790.4_Missense_Mutation_p.L155V	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	125						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						GAGTAACAAAGTGCAAATCCA	0.418000													3	58					0	0	0.004672	0	0
SYT10	341359	broad.mit.edu	37	12	33559918	33559918	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:33559918G>T	ENST00000228567.3	-	3	1179	c.883C>A	c.(883-885)Cta>Ata	p.L295I	SYT10_ENST00000535526.1_Missense_Mutation_p.L114I	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	295	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TCATCAAATAGAGGATTTAAA	0.358000													4	38					1.23904e-05	1.64001e-05	0.000602	1	0
MIB2	142678	broad.mit.edu	37	1	1563448	1563448	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:1563448G>T	ENST00000357210.4	+	14	2120	c.1904G>T	c.(1903-1905)gGa>gTa	p.G635V	MIB2_ENST00000355826.5_Missense_Mutation_p.G678V|MIB2_ENST00000504599.1_Missense_Mutation_p.G591V|MIB2_ENST00000378712.1_Missense_Mutation_p.G512V|MIB2_ENST00000360522.4_Missense_Mutation_p.G600V|MIB2_ENST00000378708.1_Missense_Mutation_p.G541V|MIB2_ENST00000378710.3_Missense_Mutation_p.G599V|MIB2_ENST00000505820.2_Missense_Mutation_p.G692V|MIB2_ENST00000520777.1_Missense_Mutation_p.G688V|MIB2_ENST00000518681.1_Missense_Mutation_p.G627V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	635					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCGGGCACTGGAGCCAGCGGC	0.642000													9	28					5.4927e-09	8.54978e-09	0.004482	1	0
DHTKD1	55526	broad.mit.edu	37	10	12159749	12159749	+	Silent	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:12159749A>C	ENST00000263035.4	+	14	2459	c.2397A>C	c.(2395-2397)ccA>ccC	p.P799P		NM_018706.5	NP_061176.3	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	799					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CTGTGGATCCAAAAAAGTAAG	0.413000													6	80					0	0	0.001168	0	0
SLC7A14	57709	broad.mit.edu	37	3	170216537	170216537	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:170216537C>A	ENST00000231706.4	-	4	993	c.678G>T	c.(676-678)gtG>gtT	p.V226V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	226						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCATGATGAACACCCATACTG	0.507000													17	70					3.41278e-10	5.55342e-10	0.004990	1	0
CNTNAP5	129684	broad.mit.edu	37	2	125284963	125284963	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:125284963A>T	ENST00000431078.1	+	10	1940	c.1576A>T	c.(1576-1578)Att>Ttt	p.I526F		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	526	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CAAGGACCTCATTTCAGTTCA	0.438000													13	87					0	0	0.001368	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435731	7435731	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:7435731C>G	ENST00000319098.4	-	1	969	c.876G>C	c.(874-876)gtG>gtC	p.V292V	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	292	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CCTCACAGGTCACACCGGCCT	0.597000													6	23					0	0	0.001168	0	0
PCDHB14	56122	broad.mit.edu	37	5	140604284	140604284	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:140604284C>A	ENST00000239449.4	+	1	1207	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L250I	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		403	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTTTTCACTCTAGTTTCTGA	0.458000													54	81					2.76378e-25	5.5767e-25	0.003610	1	0
AQP7	364	broad.mit.edu	37	9	33395131	33395131	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:33395131T>A	ENST00000539936.1	-	3	327	c.89A>T	c.(88-90)cAg>cTg	p.Q30L	AQP7_ENST00000537089.1_5'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	30					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CATCTTCCTCTGCAGTATTTC	0.577000													16	32					0	0	0.003163	0	0
DLG3	1741	broad.mit.edu	37	X	69717039	69717039	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:69717039C>T	ENST00000194900.4	+	15	2224	c.1883C>T	c.(1882-1884)aCa>aTa	p.T628I	DLG3_ENST00000542398.1_Missense_Mutation_p.T145I|DLG3_ENST00000461646.1_3'UTR|DLG3_ENST00000374355.3_Missense_Mutation_p.T291I|DLG3_ENST00000374360.3_Intron			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	606	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GAGGGAGTGACATCCAACACC	0.498000													5	36					0	0	0.000602	0	0
IL9	3578	broad.mit.edu	37	5	135229727	135229727	+	Silent	SNP	T	T	C	rs144819897	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:135229727T>C	ENST00000274520.1	-	4	307	c.297A>G	c.(295-297)ctA>ctG	p.L99L		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	99					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTTGTTCTTTAGTACTTCAA	0.398000													16	7					0	0	0.004007	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435511	7435511	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:7435511A>T	ENST00000319098.4	-	1	1189	c.1096T>A	c.(1096-1098)Tgt>Agt	p.C366S	SORCS2_ENST00000329016.9_Intron|SORCS2_ENST00000511199.1_Intron|SORCS2_ENST00000507866.2_Intron	NM_001085382.1	NP_001078851.1	Q6NUJ1	SAPL1_HUMAN	prosaposin-like 1 (gene/pseudogene)	366	Saposin B-type 3.				sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						CGGTTGCCACACAGACGGATG	0.607000													12	89					0	0	0.001368	0	0
RAB11FIP4	84440	broad.mit.edu	37	17	29850980	29850980	+	Missense_Mutation	SNP	A	A	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:29850980A>C	ENST00000325874.8	+	9	1328	c.1099A>C	c.(1099-1101)Aag>Cag	p.K367Q	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.K265Q	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	367	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CCTGAAGAGCAAGCTGAAGCA	0.612000													6	21					0	0	0.001168	0	0
NYAP1	222950	broad.mit.edu	37	7	100091411	100091411	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:100091411G>T	ENST00000423930.1	+	7	2573	c.2414G>T	c.(2413-2415)tGc>tTc	p.C805F	NYAP1_ENST00000300179.2_Missense_Mutation_p.C804F|NYAP1_ENST00000496985.1_3'UTR|NYAP1_ENST00000454988.1_Missense_Mutation_p.C748F			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	804																	CGAGGCCTCTGCAAGCAGGAG	0.731000													5	23					0.000602214	0.000722021	0.000602	1	0
RBPMS2	348093	broad.mit.edu	37	15	65041311	65041311	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:65041311C>A	ENST00000300069.4	-	5	573	c.306G>T	c.(304-306)agG>agT	p.R102S	RBPMS2_ENST00000560606.1_5'UTR	NM_194272.1	NP_919248.1	Q6ZRY4	RBPS2_HUMAN	RNA binding protein with multiple splicing 2	102	RRM.						nucleic acid binding|nucleotide binding			breast(1)|large_intestine(3)|lung(3)|prostate(1)	8						CAAACTCTAGCCTCAGAGTCT	0.517000													16	85					3.52763e-06	4.8385e-06	0.004990	1	0
TRIM50	135892	broad.mit.edu	37	7	72727283	72727283	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:72727283G>A	ENST00000333149.2	-	7	1298	c.1098C>T	c.(1096-1098)atC>atT	p.I366I	TRIM50_ENST00000453152.1_Silent_p.I366I	NM_178125.2	NP_835226.1	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	366	B30.2/SPRY.					cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTGTGCCCTTGATGACCCCCA	0.672000													3	8					0	0	0.004672	0	0
CACUL1	143384	broad.mit.edu	37	10	120450853	120450853	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:120450853C>A	ENST00000369151.3	-	7	1432	c.949G>T	c.(949-951)Gtg>Ttg	p.V317L	CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3			CDK2-associated, cullin domain 1																		TCAGATTCCACCGCCGGAGGG	0.358000													46	132					1.47857e-17	2.81653e-17	0.003610	1	0
COL19A1	1310	broad.mit.edu	37	6	70639516	70639516	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:70639516C>A	ENST00000322773.4	+	6	692	c.590C>A	c.(589-591)aCt>aAt	p.T197N		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	197	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGAGGCAGACTGATGAAAAG	0.428000													20	62					1.01871e-10	1.69206e-10	0.001216	1	0
KIAA2026	158358	broad.mit.edu	37	9	5922478	5922478	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:5922478A>G	ENST00000399933.3	-	8	3517	c.3518T>C	c.(3517-3519)aTt>aCt	p.I1173T	KIAA2026_ENST00000381461.2_Missense_Mutation_p.I1143T	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1173										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TAAAGGTGTAATTGTTTTGTT	0.368000													4	91					0	0	0.001168	0	0
TRPS1	7227	broad.mit.edu	37	8	116631637	116631637	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:116631637G>C	ENST00000395715.3	-	3	1265	c.688C>G	c.(688-690)Cca>Gca	p.P230A	TRPS1_ENST00000519076.1_Missense_Mutation_p.P171A|TRPS1_ENST00000520276.1_Missense_Mutation_p.P221A|TRPS1_ENST00000220888.5_Missense_Mutation_p.P217A|TRPS1_ENST00000519674.1_Missense_Mutation_p.P217A	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	217					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGAAGCTCTGGAGACAGAGGT	0.453000									Langer-Giedion syndrome				5	159					0	0	0.000602	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129037099	129037099	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:129037099G>C	ENST00000274487.4	+	20	3100	c.2955G>C	c.(2953-2955)tgG>tgC	p.W985C	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	985	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGACAGAATGGACCCCTTGTT	0.438000													22	51					0	0	0.003330	0	0
HP1BP3	50809	broad.mit.edu	37	1	21072078	21072078	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:21072078G>A	ENST00000375003.2	-	8	2369	c.869C>T	c.(868-870)tCa>tTa	p.S290L	HP1BP3_ENST00000312239.5_Missense_Mutation_p.S442L			Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	442	H15 2.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|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;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		GTCTTCTTCTGATGACTCATC	0.443000													7	63					0	0	0.003080	0	0
TIMM44	10469	broad.mit.edu	37	19	7997545	7997545	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:7997545C>A	ENST00000270538.3	-	9	1222	c.954G>T	c.(952-954)caG>caT	p.Q318H		NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	318					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CGTTCTCGCACTGTTTCAGAA	0.647000													17	30					1.56452e-12	2.71796e-12	0.007413	1	0
ABCC2	1244	broad.mit.edu	37	10	101560265	101560265	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:101560265G>T	ENST00000370449.4	+	9	1267	c.1154G>T	c.(1153-1155)tGc>tTc	p.C385F		NM_000392.3	NP_000383.1	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	385	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTCCAACTGTGCTTCAAGCTG	0.433000													9	146					3.09899e-07	4.48546e-07	0.004482	1	0
SYNE3	161176	broad.mit.edu	37	14	95932342	95932342	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:95932342C>A	ENST00000334258.5	-	3	567	c.553G>T	c.(553-555)Ggg>Tgg	p.G185W	SYNE3_ENST00000553340.1_Missense_Mutation_p.G185W|SYNE3_ENST00000557275.1_Missense_Mutation_p.G185W	NM_152592.3	NP_689805.3			spectrin repeat containing, nuclear envelope family member 3											breast(1)|endometrium(2)|lung(25)	28						CTGGGGTCCCCGATCCTGTTG	0.632000													13	39					4.3838e-07	6.29161e-07	0.001855	1	0
AICDA	57379	broad.mit.edu	37	12	8759494	8759494	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:8759494G>C	ENST00000229335.6	-	2	226	c.123C>G	c.(121-123)tcC>tcG	p.S41S	AICDA_ENST00000537228.1_Silent_p.S41S	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	41					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					CCAGTGAAAAGGATGTAGCAC	0.463000													4	52					0	0	0.000248	0	0
CADPS2	93664	broad.mit.edu	37	7	121985728	121985728	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:121985728C>T	ENST00000334010.7	-	26	3927	c.3506G>A	c.(3505-3507)gGa>gAa	p.G1169E	CADPS2_ENST00000313070.7_Missense_Mutation_p.G1130E|RP5-1101C3.1_ENST00000482375.1_RNA|CADPS2_ENST00000449022.2_Missense_Mutation_p.G1171E|RP5-1101C3.1_ENST00000602012.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.G1130E|RP5-1101C3.1_ENST00000602199.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1171					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CAGATCCATTCCTGGTTTCTG	0.318000													11	85					0	0	0.008291	0	0
SPTA1	6708	broad.mit.edu	37	1	158587833	158587833	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158587833C>A	ENST00000368148.3	-	46	6724	c.6544G>T	c.(6544-6546)Gat>Tat	p.D2182Y	SPTA1_ENST00000368147.3_Missense_Mutation_p.D2179Y	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2182					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)					ACTGACCCATCCAGAAAGTAA	0.348000													21	73					4.7796e-09	7.47396e-09	0.004656	1	0
LRRTM4	80059	broad.mit.edu	37	2	76975980	76975980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:76975980G>T	ENST00000409911.1	-	3	1840	c.1617C>A	c.(1615-1617)tgC>tgA	p.C539*	LRRTM4_ENST00000409093.1_Nonsense_Mutation_p.C538*|LRRTM4_ENST00000409884.1_Nonsense_Mutation_p.C538*	NM_001134745.1	NP_001128217.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	538						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTGGGCCTGGCAGTACCCGA	0.537000													13	31					0.000219431	0.000269978	0.002450	1	0
OR4D6	219983	broad.mit.edu	37	11	59225153	59225153	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:59225153C>A	ENST00000300127.2	+	1	743	c.720C>A	c.(718-720)tgC>tgA	p.C240*		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTCCACGTGCACGTCCCACA	0.572000													17	66					5.3912e-06	7.35017e-06	0.006122	1	0
RGS20	8601	broad.mit.edu	37	8	54764607	54764607	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:54764607G>T	ENST00000297313.3	+	1	240	c.148G>T	c.(148-150)Gct>Tct	p.A50S	RGS20_ENST00000344277.6_Missense_Mutation_p.A50S	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	50					negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	p.A50S(1)		breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			AGACCTCAGGGCTGTTCCTGA	0.433000													15	28					6.72482e-11	1.11971e-10	0.003163	1	0
BMPER	168667	broad.mit.edu	37	7	34118542	34118542	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:34118542G>T	ENST00000297161.2	+	13	1526	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	BMPER_ENST00000426693.1_Silent_p.G384G	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	384	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						ACTTTCAGGGGACGTGTCAGT	0.572000													18	98					9.16793e-09	1.41093e-08	0.004990	1	0
PIM1	5292	broad.mit.edu	37	6	37139014	37139014	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:37139014G>C	ENST00000373509.5	+	4	727	c.354G>C	c.(352-354)ctG>ctC	p.L118L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	209					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GTTTCGTCCTGATCCTGGAGA	0.607000			T	BCL6	NHL								7	125					0	0	0.001984	0	0
FGD4	121512	broad.mit.edu	37	12	32793217	32793217	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:32793217G>C	ENST00000427716.2	+	17	2475	c.2051G>C	c.(2050-2052)aGa>aCa	p.R684T	FGD4_ENST00000531134.1_Missense_Mutation_p.R769T|FGD4_ENST00000525053.1_Missense_Mutation_p.R796T|FGD4_ENST00000546442.1_Missense_Mutation_p.R591T|FGD4_ENST00000534526.2_Missense_Mutation_p.R821T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	684	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TAGGACGTCAGAGCCCAGGCC	0.488000													5	185					0	0	0.001168	0	0
NRD1	4898	broad.mit.edu	37	1	52301822	52301822	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:52301822C>T	ENST00000354831.7	-	5	1086	c.897G>A	c.(895-897)ctG>ctA	p.L299L	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.L231L|NRD1_ENST00000539524.1_Silent_p.L167L|NRD1_ENST00000544028.1_Silent_p.L99L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	230					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAAAGTGTGCCAGCCCCGGCA	0.418000													16	48					0	0	0.004007	0	0
KIAA2022	340533	broad.mit.edu	37	X	73962851	73962851	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:73962851C>A	ENST00000373468.1	-	3	2192	c.1541G>T	c.(1540-1542)gGt>gTt	p.G514V	KIAA2022_ENST00000055682.5_Missense_Mutation_p.G514V			Q5QGS0	K2022_HUMAN	KIAA2022	514					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTCTTTGGAACCAACTGGCAG	0.398000													10	26					1.58986e-06	2.23698e-06	0.008291	1	0
ROR2	4920	broad.mit.edu	37	9	94486419	94486419	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:94486419T>C	ENST00000375708.3	-	9	2555	c.2357A>G	c.(2356-2358)tAc>tGc	p.Y786C	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	786	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGCCCCACGTAGCGGGCGTT	0.657000													21	39					0	0	0.002299	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84609893	84609893	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:84609893A>T	ENST00000344803.2	+	4	4555	c.4508A>T	c.(4507-4509)gAg>gTg	p.E1503V		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CAGAAAGTTGAGGCATTTAAG	0.502000													5	37					0	0	0.000602	0	0
TSNARE1	203062	broad.mit.edu	37	8	143436085	143436085	+	Translation_Start_Site	SNP	T	T	G	rs147546908		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:143436085T>G	ENST00000519651.1	-	2	104	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	TSNARE1_ENST00000307180.3_Start_Codon_SNP_p.M1L|TSNARE1_ENST00000524325.1_Start_Codon_SNP_p.M1L|TSNARE1_ENST00000520166.1_Start_Codon_SNP_p.M1L			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	1					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGTATGACATCTTCTTACAG	0.572000													15	25					0	0	0.004990	0	0
SLC35F6	54978	broad.mit.edu	37	2	27001193	27001193	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:27001193G>T	ENST00000344420.5	+	6	992	c.930G>T	c.(928-930)ctG>ctT	p.L310L	CENPA_ENST00000475662.1_Intron|SLC35F6_ENST00000416475.2_Silent_p.L227L	NM_017877.3	NP_060347.2			solute carrier family 35, member F6																		GCCTGGCACTGGGCTGGGAGG	0.612000													12	92					9.31168e-06	1.25569e-05	0.001855	1	0
TNFAIP6	7130	broad.mit.edu	37	2	152220468	152220468	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:152220468G>A	ENST00000243347.3	+	2	181	c.106G>A	c.(106-108)Ggt>Agt	p.G36S		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	36	Link.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		ACGAGCAGCCGGTGTGTACCA	0.483000													4	55					0	0	0.001168	0	0
ATP11A	23250	broad.mit.edu	37	13	113481158	113481158	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:113481158G>T	ENST00000487903.1	+	12	1262	c.1174G>T	c.(1174-1176)Gag>Tag	p.E392*	ATP11A_ENST00000375645.3_Nonsense_Mutation_p.E392*|ATP11A_ENST00000283558.8_Nonsense_Mutation_p.E392*|ATP11A_ENST00000375630.2_Nonsense_Mutation_p.E392*			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	392					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	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_lung(25;0.134)|all_epithelial(44;0.141)				GGAGACTGGCGAGGGGCCTCT	0.527000													12	60					5.50884e-06	7.46571e-06	0.001368	1	0
HAVCR2	84868	broad.mit.edu	37	5	156535943	156535943	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:156535943G>A	ENST00000307851.4	-	1	782	c.52C>T	c.(52-54)Ctt>Ttt	p.L18F	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000522593.1_Missense_Mutation_p.L18F	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	18						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTACTTGTAAGTAGTAGCAGC	0.433000													12	14					0	0	0.001855	0	0
TPTE	7179	broad.mit.edu	37	21	10934082	10934082	+	Missense_Mutation	SNP	C	C	A	rs139617622		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:10934082C>A	ENST00000298232.7	-	15	1208	c.841G>T	c.(841-843)Gtc>Ttc	p.V281F	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.V261F|TPTE_ENST00000361285.4_Missense_Mutation_p.V299F	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	299	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTCTAACGACCCTATTATGG	0.328000													31	220					2.42023e-17	4.58464e-17	0.003271	1	0
FNDC3B	64778	broad.mit.edu	37	3	171830326	171830326	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:171830326G>T	ENST00000336824.4	+	2	156	c.57G>T	c.(55-57)ctG>ctT	p.L19L	FNDC3B_ENST00000423424.1_Silent_p.L19L|FNDC3B_ENST00000421757.1_Silent_p.L19L|FNDC3B_ENST00000415807.2_Silent_p.L19L|FNDC3B_ENST00000416957.1_Silent_p.L19L|FNDC3B_ENST00000392699.1_Silent_p.L19L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	19						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CACCATTGCTGAACGGAGAGG	0.498000													20	73					8.10497e-08	1.20645e-07	0.001523	1	0
ATP5J2	9551	broad.mit.edu	37	7	99063748	99063748	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:99063748T>A	ENST00000292475.3	-	1	206	c.17A>T	c.(16-18)gAg>gTg	p.E6V	ATP5J2_ENST00000449683.1_Intron|ATP5J2_ENST00000466753.1_5'UTR|ATP5J2_ENST00000394186.3_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2_ENST00000359832.4_Missense_Mutation_p.E6V|PTCD1_ENST00000555673.1_Intron|ATP5J2_ENST00000488775.1_Intron	NM_004889.3	NP_004880.1			ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2											large_intestine(1)|ovary(1)	2	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)					GGCCGGACACTCACCAACTGA	0.647000													9	45					0	0	0.004482	0	0
XIRP2	129446	broad.mit.edu	37	2	168103862	168103862	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:168103862C>A	ENST00000409195.1	+	9	6049	c.5960C>A	c.(5959-5961)gCg>gAg	p.A1987E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.A1765E|XIRP2_ENST00000295237.9_Missense_Mutation_p.A1987E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1812					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						TTTGAGCCAGCGGCCAAGTGG	0.463000													5	36					0.000602214	0.000722021	0.000602	1	0
FAM214A	56204	broad.mit.edu	37	15	52877008	52877008	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:52877008C>G	ENST00000261844.7	-	12	3163	c.3011G>C	c.(3010-3012)aGa>aCa	p.R1004T	RP11-23N2.4_ENST00000562062.1_RNA|FAM214A_ENST00000546305.2_Missense_Mutation_p.R1011T	NM_019600.2	NP_062546.2	Q32MH5	K1370_HUMAN	family with sequence similarity 214, member A	1004																	ATTAACACTTCTCTTCACTTC	0.343000													6	28					0	0	0.003080	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323683	79323683	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:79323683C>T	ENST00000428286.1	-	8	3630	c.2430G>A	c.(2428-2430)gtG>gtA	p.V810V	PRUNE2_ENST00000376718.3_Silent_p.V1169V			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1169					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CCAGCTGTCTCACTGTAAATC	0.552000													34	69					0	0	0.004289	0	0
ARAP2	116984	broad.mit.edu	37	4	36195225	36195225	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:36195225C>A	ENST00000303965.4	-	7	2021	c.1532G>T	c.(1531-1533)aGc>aTc	p.S511I		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	511	PH 1.				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						GTAAGAAATGCTAAGGCCATC	0.289000													11	32					5.50884e-06	7.46571e-06	0.001368	1	0
NRXN3	9369	broad.mit.edu	37	14	79434582	79434582	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:79434582G>T	ENST00000554719.1	+	11	2407	c.1916G>T	c.(1915-1917)cGa>cTa	p.R639L	NRXN3_ENST00000335750.5_Missense_Mutation_p.R639L	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	245					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTGGCCTCTCGAGATGGCTTT	0.522000													15	51					6.31663e-08	9.41274e-08	0.003163	1	0
ZBTB24	9841	broad.mit.edu	37	6	109802996	109802996	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:109802996C>G	ENST00000230122.3	-	2	401	c.234G>C	c.(232-234)atG>atC	p.M78I		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	78	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGCCTTCCAGCATATAAATGG	0.448000													11	57					0	0	0.001368	0	0
TAS2R41	259287	broad.mit.edu	37	7	143175208	143175208	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:143175208C>A	ENST00000408916.1	+	1	243	c.243C>A	c.(241-243)ggC>ggA	p.G81G	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	81					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GGGGTCTCGGCCGACAGTTCT	0.537000													27	91					1.17739e-12	2.05855e-12	0.005443	1	0
LIPF	8513	broad.mit.edu	37	10	90427435	90427435	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:90427435G>T	ENST00000394375.3	+	4	358	c.245G>T	c.(244-246)gGg>gTg	p.G82V	LIPF_ENST00000355843.2_Missense_Mutation_p.G72V|LIPF_ENST00000238983.4_Missense_Mutation_p.G72V	NM_001198829.1	NP_001185758.1	P07098	LIPG_HUMAN	lipase, gastric	72					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AAAAATTCAGGGAATACAGGT	0.348000													25	87					1.17739e-12	2.05855e-12	0.005443	1	0
ZKSCAN8	7745	broad.mit.edu	37	6	28120089	28120089	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:28120089G>T	ENST00000330236.6	+	5	886	c.702G>T	c.(700-702)tgG>tgT	p.W234C	ZKSCAN8_ENST00000457389.2_Missense_Mutation_p.W234C	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2			zinc finger with KRAB and SCAN domains 8																		GAGAGGAGTGGCTTCTTGATC	0.453000													22	98					1.10513e-12	1.93968e-12	0.002299	1	0
MTA1	9112	broad.mit.edu	37	14	105911775	105911775	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:105911775G>T	ENST00000331320.7	+	3	331	c.117G>T	c.(115-117)gaG>gaT	p.E39D	MTA1_ENST00000406191.1_Missense_Mutation_p.E39D|MTA1_ENST00000405646.1_Missense_Mutation_p.E39D	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	39	BAH.				signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGAACGTGGAGGCCAAAGTGG	0.657000													7	48					0.00198382	0.00234139	0.001984	1	0
STARD5	80765	broad.mit.edu	37	15	81615245	81615245	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:81615245C>T	ENST00000302824.6	-	2	169	c.144G>A	c.(142-144)ggG>ggA	p.G48G	STARD5_ENST00000559913.1_5'UTR	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5	48	START.				C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						CTTACAGGTTCCCTGGAAACT	0.478000													14	48					0	0	0.003163	0	0
IGHV3-11	28450	broad.mit.edu	37	14	106573267	106573267	+	RNA	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:106573267C>G	ENST00000390601.2	-	0	436																											GTCCTCGGCTCTCAGGCTGTT	0.547000													13	302					0	0	0.004990	0	0
UBR5	51366	broad.mit.edu	37	8	103277397	103277397	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:103277397C>G	ENST00000520539.1	-	53	8138	c.7532G>C	c.(7531-7533)aGa>aCa	p.R2511T	UBR5_ENST00000521922.1_Missense_Mutation_p.R2504T|UBR5_ENST00000518205.1_Missense_Mutation_p.R239T|UBR5_ENST00000220959.4_Missense_Mutation_p.R2510T	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2511	HECT.				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			ATAAAATCCTCTTTTCCCAGG	0.403000													4	99					0	0	0.000248	0	0
LRRC43	254050	broad.mit.edu	37	12	122675978	122675978	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:122675978G>A	ENST00000339777.4	+	6	981	c.953G>A	c.(952-954)gGa>gAa	p.G318E	LRRC43_ENST00000425921.1_Missense_Mutation_p.G133E	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	318										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		AACATCAGAGGAGTCCTGGAC	0.527000											OREG0022219	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	16	45					0	0	0.003163	0	0
WDR19	57728	broad.mit.edu	37	4	39255635	39255635	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:39255635T>C	ENST00000399820.3	+	26	3140	c.2986T>C	c.(2986-2988)Tat>Cat	p.Y996H	WDR19_ENST00000288634.7_Missense_Mutation_p.Y836H	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	996					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						AATGGAAATCTATGCAGATAT	0.358000													5	72					0	0	0.000602	0	0
ANKS4B	257629	broad.mit.edu	37	16	21261469	21261469	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:21261469C>A	ENST00000311620.5	+	2	655	c.582C>A	c.(580-582)ttC>ttA	p.F194L		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	194										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGGCACATTCGGGTCACTAT	0.493000													20	55					1.87028e-06	2.62611e-06	0.001882	1	0
CACNA1E	777	broad.mit.edu	37	1	181741305	181741305	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:181741305C>T	ENST00000526775.1	+	36	5185	c.5020C>T	c.(5020-5022)Cgc>Tgc	p.R1674C	CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1693C|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1674C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1693C|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1300C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1644C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1625C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1693					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGAGAACGAACGCTGCGGCAC	0.557000													25	96					0	0	0.003330	0	0
KIAA2022	340533	broad.mit.edu	37	X	73960134	73960134	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:73960134C>T	ENST00000373468.1	-	3	4909	c.4258G>A	c.(4258-4260)Gag>Aag	p.E1420K	KIAA2022_ENST00000055682.5_Missense_Mutation_p.E1420K			Q5QGS0	K2022_HUMAN	KIAA2022	1420					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CGAGAGTCCTCGTTATAACCA	0.433000													5	153					0	0	0.000602	0	0
FSIP2	401024	broad.mit.edu	37	2	186672285	186672285	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:186672285G>T	ENST00000343098.5	+	17	18519	c.18519G>T	c.(18517-18519)gtG>gtT	p.V6173V	FSIP2_ENST00000424728.1_Silent_p.V6084V	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTCAATTAGTGGTTCAGTCTG	0.328000													21	98					7.45023e-12	1.28283e-11	0.001523	1	0
NDST1	3340	broad.mit.edu	37	5	149907801	149907801	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:149907801G>T	ENST00000261797.6	+	3	1451	c.949G>T	c.(949-951)Gac>Tac	p.D317Y	NDST1_ENST00000523767.1_Missense_Mutation_p.D317Y	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	317	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATCCTGGTGGACATTGATGA	0.612000													14	37					2.31682e-05	3.01098e-05	0.003163	1	0
COLEC11	78989	broad.mit.edu	37	2	3691332	3691332	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:3691332G>C	ENST00000403096.3	+	6	853	c.362G>C	c.(361-363)cGc>cCc	p.R121P	COLEC11_ENST00000382062.2_Missense_Mutation_p.R123P|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000349077.4_Missense_Mutation_p.R147P|COLEC11_ENST00000402794.1_Missense_Mutation_p.R97P|COLEC11_ENST00000418971.2_Missense_Mutation_p.R161P|COLEC11_ENST00000404205.1_Missense_Mutation_p.R73P|COLEC11_ENST00000236693.7_Missense_Mutation_p.R144P|COLEC11_ENST00000402922.1_Missense_Mutation_p.R97P	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	147						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		GCCGGTGTGCGCGAGACGGAG	0.632000													12	43					0	0	0.001368	0	0
ADAM30	11085	broad.mit.edu	37	1	120438236	120438236	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:120438236G>T	ENST00000369400.1	-	1	882	c.724C>A	c.(724-726)Caa>Aaa	p.Q242K		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	242	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CGAACATCTTGAAAGTAGGTG	0.378000													22	51					3.5997e-14	6.52835e-14	0.002299	1	0
ZFP57	346171	broad.mit.edu	37	6	29641187	29641187	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:29641187G>T	ENST00000376883.1	-	6	1052	c.641C>A	c.(640-642)aCg>aAg	p.T214K	ZFP57_ENST00000376881.3_Missense_Mutation_p.T214K|ZFP57_ENST00000488757.1_Missense_Mutation_p.T234K			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	150					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GTCACAGAGCGTGCAACAGAA	0.562000													15	59					2.32078e-09	3.67121e-09	0.003163	1	0
NSMAF	8439	broad.mit.edu	37	8	59515919	59515919	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:59515919C>T	ENST00000038176.3	-	13	1107	c.895G>A	c.(895-897)Gag>Aag	p.E299K	NSMAF_ENST00000427130.2_Missense_Mutation_p.E330K|NSMAF_ENST00000519858.1_5'UTR	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	299	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				ATGTAGCTCTCAGCAGTGTGC	0.557000													15	43					0	0	0.002450	0	0
PLA2R1	22925	broad.mit.edu	37	2	160806229	160806229	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:160806229T>A	ENST00000283243.7	-	25	3805	c.3599A>T	c.(3598-3600)gAt>gTt	p.D1200V	PLA2R1_ENST00000392771.1_Missense_Mutation_p.D1200V	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	1200	C-type lectin 7.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGACTCCTCATCTTTCCAAAA	0.493000													14	44					0	0	0.004007	0	0
PRND	23627	broad.mit.edu	37	20	4705237	4705237	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:4705237T>A	ENST00000305817.2	+	2	111	c.40T>A	c.(40-42)Tgc>Agc	p.C14S		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	14					protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GGCCACTGTCTGCATGCTGCT	0.632000													18	39					0	0	0.007413	0	0
CSH2	1443	broad.mit.edu	37	17	61949662	61949662	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:61949662G>C	ENST00000392886.2	-	5	629	c.478C>G	c.(478-480)Cgg>Ggg	p.R160G	CSH2_ENST00000345366.7_Missense_Mutation_p.R65G|CSH2_ENST00000560142.1_Missense_Mutation_p.R103G|CSH2_ENST00000336844.5_3'UTR	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	160					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.R160G(1)		endometrium(2)|large_intestine(1)|lung(3)	6						TGCCCAGTCCGGCGGCTGCCG	0.547000													26	100					0	0	0.006320	0	0
ZMYM4	9202	broad.mit.edu	37	1	35884120	35884120	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:35884120T>C	ENST00000314607.6	+	29	4466	c.4386T>C	c.(4384-4386)acT>acC	p.T1462T	ZMYM4_ENST00000373297.2_Silent_p.T1373T	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	1462					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGAGAATACTGACAATCCAC	0.413000													7	51					0	0	0.001984	0	0
AKR7A3	22977	broad.mit.edu	37	1	19610580	19610580	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:19610580C>T	ENST00000361640.4	-	6	1284	c.744G>A	c.(742-744)gtG>gtA	p.V248V		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	248					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GGGCCTTCTCCACCAGGGCAA	0.642000													5	36					0	0	0.000602	0	0
LRRN3	54674	broad.mit.edu	37	7	110763750	110763750	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:110763750C>A	ENST00000451085.1	+	4	1968	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.L308M|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.L308M|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	308						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TGTGGATAACCTGCCAGATTT	0.393000													8	68					5.18039e-06	7.07692e-06	0.003080	1	0
ASIC5	51802	broad.mit.edu	37	4	156763423	156763423	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:156763423G>T	ENST00000537611.2	-	6	991	c.945C>A	c.(943-945)tgC>tgA	p.C315*		NM_017419.2	NP_059115.1	Q9NY37	ACCN5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	315						integral to membrane|plasma membrane											ATTCCTTCAAGCAACCAGAAG	0.398000													21	43					3.62473e-10	5.88425e-10	0.001882	1	0
NCOA1	8648	broad.mit.edu	37	2	24949555	24949555	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:24949555A>G	ENST00000405141.1	+	16	3408	c.2697A>G	c.(2695-2697)atA>atG	p.I899M	NCOA1_ENST00000348332.3_Missense_Mutation_p.I899M|NCOA1_ENST00000288599.5_Missense_Mutation_p.I899M|NCOA1_ENST00000395856.3_Missense_Mutation_p.I899M|NCOA1_ENST00000538539.1_Missense_Mutation_p.I899M|NCOA1_ENST00000407230.1_Missense_Mutation_p.I748M|NCOA1_ENST00000406961.1_Missense_Mutation_p.I899M			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	899	Interaction with CREBBP.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACAGCTATAAATCAGAGTA	0.343000			T	PAX3	alveolar rhadomyosarcoma								7	37					0	0	0.001984	0	0
AHNAK	79026	broad.mit.edu	37	11	62293116	62293116	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:62293116C>A	ENST00000378024.4	-	5	9047	c.8773G>T	c.(8773-8775)Gtc>Ttc	p.V2925F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2925					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCTGAGACATCAACGTCA	0.507000													79	242					3.54697e-40	7.33076e-40	0.003610	1	0
NINL	22981	broad.mit.edu	37	20	25491358	25491358	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:25491358C>G	ENST00000278886.6	-	5	542	c.469G>C	c.(469-471)Gag>Cag	p.E157Q	NINL_ENST00000422516.1_Missense_Mutation_p.E157Q	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	157					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCTCGGCCTCTTCATCTGAC	0.512000													3	109					0	0	0.004672	0	0
BEND3	57673	broad.mit.edu	37	6	107390010	107390010	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:107390010C>T	ENST00000429433.2	-	5	3034	c.2385G>A	c.(2383-2385)gaG>gaA	p.E795E	BEND3_ENST00000369042.1_Silent_p.E795E	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	795	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTGCCACACCTCCTCCATCT	0.567000													24	76					0	0	0.002780	0	0
OR8B12	219858	broad.mit.edu	37	11	124413387	124413387	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:124413387T>A	ENST00000306842.2	-	1	188	c.164A>T	c.(163-165)cAc>cTc	p.H55L		NM_001005195.1	NP_001005195.1	Q8NGG6	OR8BC_HUMAN	olfactory receptor, family 8, subfamily B, member 12	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213)		CATGGGAGTGTGCAGGTGAGA	0.478000													20	75					0	0	0.001882	0	0
ZNF574	64763	broad.mit.edu	37	19	42584394	42584394	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:42584394A>T	ENST00000600245.1	+	2	2291	c.1636A>T	c.(1636-1638)Aca>Tca	p.T546S	ZNF574_ENST00000359044.4_Missense_Mutation_p.T546S|ZNF574_ENST00000222339.7_Missense_Mutation_p.T636S			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GCTCACACACACAGGAGAGCG	0.652000													29	102					0	0	0.006320	0	0
CROCC	9696	broad.mit.edu	37	1	17263312	17263312	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:17263312G>C	ENST00000375541.5	+	9	1206	c.1137G>C	c.(1135-1137)aaG>aaC	p.K379N	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	379					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TCCGCGAGAAGGACCTGGCGC	0.672000													3	64					0	0	0.004672	0	0
KIF3B	9371	broad.mit.edu	37	20	30898583	30898583	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:30898583A>T	ENST00000375712.3	+	2	1170	c.1003A>T	c.(1003-1005)Aac>Tac	p.N335Y	KIF3B_ENST00000418717.2_Missense_Mutation_p.N23Y	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	335	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GCGATATGCCAACCGTGCCAA	0.527000													11	49					0	0	0.001368	0	0
CD52	1043	broad.mit.edu	37	1	26644547	26644547	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:26644547C>A	ENST00000374213.2	+	1	100	c.39C>A	c.(37-39)ctC>ctA	p.L13L	CD52_ENST00000492808.1_3'UTR|UBXN11_ENST00000374217.2_5'UTR|UBXN11_ENST00000374222.1_5'UTR	NM_001803.2	NP_001794.2	P31358	CD52_HUMAN	CD52 molecule	13					elevation of cytosolic calcium ion concentration|respiratory burst	anchored to membrane|integral to plasma membrane|membrane fraction				large_intestine(1)	1		all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649)	Alemtuzumab(DB00087)	CCATCAGCCTCCTGGTTATGG	0.542000													10	69					0.00829132	0.00954588	0.008291	1	0
DCSTAMP	81501	broad.mit.edu	37	8	105361740	105361740	+	Silent	SNP	C	C	A	rs144377739	byFrequency	TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:105361740C>A	ENST00000297581.2	+	2	1009	c.960C>A	c.(958-960)ctC>ctA	p.L320L	DCSTAMP_ENST00000517991.1_Intron|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	320					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											TGTATCGGCTCATTTTCTCAG	0.468000													73	176					1.54081e-58	3.20393e-58	0.003610	1	0
DPY19L4	286148	broad.mit.edu	37	8	95800281	95800281	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:95800281G>T	ENST00000414645.2	+	18	2106		c.e18+1			NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)							integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AAATGGCCACGTAAGTAACCA	0.289000													7	51					5.18039e-06	7.07692e-06	0.003080	1	0
TREML2	79865	broad.mit.edu	37	6	41162309	41162309	+	Silent	SNP	C	C	T	rs143539514		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:41162309C>T	ENST00000483722.1	-	3	824	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	213					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGCTGGGAGACGCGGTCACTG	0.627000													5	30					0	0	0.000602	0	0
GNAS	2778	broad.mit.edu	37	20	57466789	57466789	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:57466789G>A	ENST00000354359.7	+	1	432	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371081.1_Missense_Mutation_p.C3Y|GNAS_ENST00000605439.1_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371085.3_Missense_Mutation_p.C3Y|GNAS_ENST00000371095.3_Missense_Mutation_p.C3Y|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000265620.7_Missense_Mutation_p.C3Y|GNAS_ENST00000371100.4_Intron|GNAS_ENST00000306090.10_Missense_Mutation_p.C3Y	NM_001077488.2	NP_001070956.1	P63092	GNAS2_HUMAN	GNAS complex locus	3				C -> Y (in Ref. 8; AAH66923).	activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			gccATGGGCTGCCTCGGGAAC	0.751000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			5	9					0	0	0.001168	0	0
NAV3	89795	broad.mit.edu	37	12	78542673	78542673	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:78542673A>G	ENST00000397909.2	+	22	4932	c.4759A>G	c.(4759-4761)Acc>Gcc	p.T1587A	NAV3_ENST00000536525.2_Missense_Mutation_p.T1587A|NAV3_ENST00000228327.6_Missense_Mutation_p.T1587A|NAV3_ENST00000266692.7_Missense_Mutation_p.T1410A			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1587						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAAGTTGCTACCCTCACATC	0.308000										HNSCC(70;0.22)			8	17					0	0	0.004482	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296167	39296167	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:39296167A>G	ENST00000345847.4	-	1	572	c.573T>C	c.(571-573)atT>atC	p.I191I		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	187						keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GGCAGGTGGAAATGACACAGG	0.627000													4	13					0	0	0.000248	0	0
CACNG7	59284	broad.mit.edu	37	19	54444782	54444782	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:54444782G>T	ENST00000391767.1	+	5	695	c.483G>T	c.(481-483)atG>atT	p.M161I	CACNG7_ENST00000222212.2_Missense_Mutation_p.M161I|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Missense_Mutation_p.M161I			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	161					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		ACGAGGTCATGAACAGGCCCA	0.562000													12	97					2.68362e-12	4.63256e-12	0.001368	1	0
SFMBT2	57713	broad.mit.edu	37	10	7214086	7214086	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:7214086T>C	ENST00000361972.4	-	19	2276	c.2186A>G	c.(2185-2187)gAt>gGt	p.D729G	SFMBT2_ENST00000397167.1_Missense_Mutation_p.D729G	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	729					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGCGGTGTCATCGTCCATGGC	0.692000													3	14					0	0	0.004672	0	0
ERAP2	64167	broad.mit.edu	37	5	96232566	96232566	+	Splice_Site	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:96232566A>T	ENST00000437043.3	+	9	2213	c.1503_splice	c.e9+1	p.N501_splice	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Splice_Site_p.N456_splice|ERAP2_ENST00000515095.1_3'UTR	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	501					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		AGTCTGTCAAATGTAAGTCAT	0.323000													9	118					0	0	0.001368	0	0
SSX1	6756	broad.mit.edu	37	X	48125747	48125747	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:48125747G>C	ENST00000376919.3	+	7	628	c.492G>C	c.(490-492)tgG>tgC	p.W164C		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AACATGCCTGGACCCACAGAC	0.483000			T	SS18	synovial sarcoma								10	298					0	0	0.000978	0	0
ST14	6768	broad.mit.edu	37	11	130069888	130069888	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:130069888G>T	ENST00000278742.5	+	16	2268	c.1850G>T	c.(1849-1851)gGg>gTg	p.G617V		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	617	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CGTGTTGTTGGGGGCACGGAT	0.612000													11	50					1.08611e-07	1.59577e-07	0.000978	1	0
DNAH11	8701	broad.mit.edu	37	7	21723472	21723472	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:21723472G>A	ENST00000328843.6	+	33	5583	c.5552G>A	c.(5551-5553)tGc>tAc	p.C1851Y	DNAH11_ENST00000409508.3_Missense_Mutation_p.C1844Y			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1851	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAAACACTGCTTTGTTAAT	0.438000									Kartagener syndrome				18	152					0	0	0.001216	0	0
AFM	173	broad.mit.edu	37	4	74367545	74367545	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:74367545A>T	ENST00000226355.3	+	13	1781	c.1688A>T	c.(1687-1689)gAt>gTt	p.D563V		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	563	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAACTCACAGATGAAGAGCTG	0.383000													11	14					0	0	0.000978	0	0
BRINP3	339479	broad.mit.edu	37	1	190203575	190203575	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:190203575G>T	ENST00000367462.3	-	5	882	c.651C>A	c.(649-651)tgC>tgA	p.C217*	FAM5C_ENST00000534846.1_Nonsense_Mutation_p.C115*|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		217						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CATAGTTACTGCAGCCAAGAG	0.373000													11	59					0.00010058	0.000125564	0.001368	1	0
CCDC70	83446	broad.mit.edu	37	13	52439669	52439669	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:52439669G>A	ENST00000242819.4	+	2	451	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	52						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		AAGGCTTTTCGCGAAGAGATG	0.512000													5	43					0	0	0.000602	0	0
KCNK17	89822	broad.mit.edu	37	6	39267446	39267446	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:39267446C>T	ENST00000373231.4	-	5	988	c.756G>A	c.(754-756)ggG>ggA	p.G252G	KCNK17_ENST00000453413.2_3'UTR	NM_031460.3	NP_113648.2	Q96T54	KCNKH_HUMAN	potassium channel, subfamily K, member 17	252						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCCATGCCATCCCAAAGAGGA	0.562000													19	92					0	0	0.001216	0	0
TATDN3	128387	broad.mit.edu	37	1	212988354	212988354	+	Splice_Site	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:212988354G>T	ENST00000366974.4	+	10	775		c.e10-1		TATDN3_ENST00000366973.4_Splice_Site|TATDN3_ENST00000532324.1_Splice_Site|TATDN3_ENST00000531963.1_Intron|TATDN3_ENST00000525569.1_Splice_Site|TATDN3_ENST00000526997.1_Splice_Site|TATDN3_ENST00000526641.1_Splice_Site	NM_001042552.2|NM_001042553.2|NM_001146169.1|NM_001146171.1	NP_001036017.1|NP_001036018.1|NP_001139641.1|NP_001139643.1	Q17R31	TATD3_HUMAN	TatD DNase domain containing 3							nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TCTTGTTTCAGGTACGGAATG	0.413000													38	110					1.07637e-12	1.89407e-12	0.004878	1	0
CEACAM18	729767	broad.mit.edu	37	19	51983926	51983926	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:51983926A>T	ENST00000396477.4	+	2	413	c.392A>T	c.(391-393)gAg>gTg	p.E131V	CEACAM18_ENST00000451626.1_Missense_Mutation_p.E192V	NM_001278392.1	NP_001265321.1	A8MTB9	CEA18_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 18	192						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCTGGCTGGAGGTTCTAGGT	0.532000													8	36					0	0	0.006214	0	0
NADSYN1	55191	broad.mit.edu	37	11	71164426	71164426	+	Splice_Site	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:71164426G>A	ENST00000319023.2	+	1	272	c.85_splice	c.e1+1	p.K28_splice		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	28	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAATTTTAAAGAGTGAGTCTG	0.662000													3	10					0	0	0.004672	0	0
COL11A1	1301	broad.mit.edu	37	1	103444295	103444295	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:103444295C>A	ENST00000358392.2	-	35	3076	c.2759G>T	c.(2758-2760)gGc>gTc	p.G920V	COL11A1_ENST00000353414.4_Missense_Mutation_p.G869V|COL11A1_ENST00000370096.3_Missense_Mutation_p.G908V|COL11A1_ENST00000512756.1_Missense_Mutation_p.G792V	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	908	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)		AGGGCCATCGCCACCTGAAGT	0.388000													22	171					5.26018e-13	9.31647e-13	0.001882	1	0
ZSCAN20	7579	broad.mit.edu	37	1	33945118	33945118	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:33945118T>C	ENST00000361328.3	+	2	382	c.229T>C	c.(229-231)Tgt>Cgt	p.C77R	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.C77R|ZSCAN20_ENST00000480917.1_3'UTR	NM_145238.3	NP_660281.2	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	77	SCAN box.				viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGCTCTCTGCTGTCGTTGGCT	0.612000													5	42					0	0	0.000602	0	0
EPHB1	2047	broad.mit.edu	37	3	134851709	134851709	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:134851709G>T	ENST00000398015.3	+	5	1485	c.1115G>T	c.(1114-1116)cGc>cTc	p.R372L	EPHB1_ENST00000493838.1_5'UTR	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	372	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R372L(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGCTGCTCCCGCTGTGACGAC	0.617000													7	22					0.00448238	0.00522241	0.004482	1	0
CHD1L	9557	broad.mit.edu	37	1	146759402	146759402	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:146759402G>T	ENST00000369258.4	+	19	2330	c.2310G>T	c.(2308-2310)ggG>ggT	p.G770G	CHD1L_ENST00000361293.5_Silent_p.G489G|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Silent_p.G676G|CHD1L_ENST00000369259.3_Silent_p.G566G	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	770	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)					AGCTGGCTGGGAAAATGAAAG	0.458000													12	84					1.61879e-10	2.66601e-10	0.001368	1	0
XIRP2	129446	broad.mit.edu	37	2	168104711	168104711	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:168104711C>G	ENST00000409195.1	+	9	6898	c.6809C>G	c.(6808-6810)tCc>tGc	p.S2270C	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2048C|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2270C|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2095					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						ATGGAAAGGTCCTTGAATCCA	0.428000													10	41					0	0	0.008291	0	0
POLR3K	51728	broad.mit.edu	37	16	101609	101609	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:101609C>G	ENST00000293860.5	-	2	189	c.148G>C	c.(148-150)Gat>Cat	p.D50H		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	50					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				AGCACATCATCCACTTCTTTC	0.443000													5	50					0	0	0.000602	0	0
FOLH1	2346	broad.mit.edu	37	11	49208318	49208318	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:49208318C>A	ENST00000340334.7	-	6	840	c.472G>T	c.(472-474)Gat>Tat	p.D158Y	FOLH1_ENST00000356696.3_Missense_Mutation_p.D173Y|FOLH1_ENST00000256999.2_Missense_Mutation_p.D173Y|FOLH1_ENST00000533034.1_Missense_Mutation_p.D158Y|FOLH1_ENST00000343844.4_5'UTR	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	173					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TACACTAGATCGCCCTGTTGA	0.393000													16	71					4.7546e-09	7.45198e-09	0.004007	1	0
BCAS1	8537	broad.mit.edu	37	20	52645175	52645175	+	Missense_Mutation	SNP	T	T	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:52645175T>G	ENST00000395961.3	-	4	645	c.479A>C	c.(478-480)cAa>cCa	p.Q160P	BCAS1_ENST00000371435.2_Missense_Mutation_p.Q160P|BCAS1_ENST00000411563.1_Missense_Mutation_p.Q63P|BCAS1_ENST00000371440.3_Missense_Mutation_p.Q160P	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	160						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			GACCTTGTCTTGGGCCGGGGC	0.622000													8	56					0	0	0.004482	0	0
SETDB2	83852	broad.mit.edu	37	13	50062476	50062476	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:50062476G>C	ENST00000354234.4	+	12	2533	c.1627G>C	c.(1627-1629)Gaa>Caa	p.E543Q	SETDB2_ENST00000317257.8_Missense_Mutation_p.E555Q	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	555	SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		TCTGCTGATTGAATCAGATGT	0.358000													9	71					0	0	0.006214	0	0
ARMCX2	9823	broad.mit.edu	37	X	100910689	100910689	+	Missense_Mutation	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:100910689A>G	ENST00000328766.5	-	5	2339	c.1886T>C	c.(1885-1887)gTg>gCg	p.V629A	ARMCX2_ENST00000356824.4_Missense_Mutation_p.V629A|ARMCX2_ENST00000330154.2_Missense_Mutation_p.V629A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	629						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GAATTTGTTCACTAGTTTTAT	0.343000													15	67					0	0	0.003163	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886137	88886137	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:88886137C>A	ENST00000319675.3	-	1	159	c.63G>T	c.(61-63)gtG>gtT	p.V21V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	21										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						CATTGAGTCCCACTCTGACTG	0.527000													11	53					7.03913e-09	1.0907e-08	0.001368	1	0
NOTCH4	4855	broad.mit.edu	37	6	32180910	32180910	+	Splice_Site	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:32180910A>T	ENST00000375023.3	-	15	2577		c.e15+1		NOTCH4_ENST00000465528.1_Splice_Site	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4						cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGCCCTGCTCACCTGTCTGCA	0.647000													5	37					0	0	0.000602	0	0
GABBR1	2550	broad.mit.edu	37	6	29591181	29591181	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:29591181T>C	ENST00000377034.4	-	8	1199	c.864A>G	c.(862-864)ccA>ccG	p.P288P	GABBR1_ENST00000355973.3_Silent_p.P171P|GABBR1_ENST00000377016.4_Silent_p.P226P|GABBR1_ENST00000376977.3_Silent_p.P288P|GABBR1_ENST00000377012.4_Silent_p.P171P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	288					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GTGTGGCTGATGGGTGCGTTC	0.562000													16	26					0	0	0.004007	0	0
AQP1	358	broad.mit.edu	37	7	30951831	30951831	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:30951831G>T	ENST00000311813.4	+	1	362	c.307G>T	c.(307-309)Gtg>Ttg	p.V103L	AQP1_ENST00000509504.1_Missense_Mutation_p.V280L|AQP1_ENST00000434909.2_Missense_Mutation_p.V163L	NM_198098.2	NP_932766.1			aquaporin 1											kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				CGCCCAGTGCGTGGGGGCCAT	0.642000													22	78					3.5997e-14	6.52835e-14	0.002299	1	0
GRIN2A	2903	broad.mit.edu	37	16	9858247	9858247	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:9858247G>T	ENST00000396573.2	-	14	3463	c.3154C>A	c.(3154-3156)Ctt>Att	p.L1052I	GRIN2A_ENST00000562109.1_Missense_Mutation_p.L1052I|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L1052I|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L1052I|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L1052I|GRIN2A_ENST00000535259.1_Missense_Mutation_p.L895I	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1052					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCTTCTGGAAGATACCTAGGG	0.507000													50	112					7.05377e-20	1.38632e-19	0.003610	1	0
PTCH2	8643	broad.mit.edu	37	1	45292685	45292685	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:45292685C>A	ENST00000447098.2	-	17	2595	c.2584G>T	c.(2584-2586)Gtg>Ttg	p.V862L	PTCH2_ENST00000372192.3_Missense_Mutation_p.V862L	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	862					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTCACCCACACGGTCAGCCCC	0.617000									Basal Cell Nevus syndrome				13	134					9.31168e-06	1.25569e-05	0.001855	1	0
TTN	7273	broad.mit.edu	37	2	179472235	179472235	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179472235G>T	ENST00000589042.1	-	277	53404	c.53180C>A	c.(53179-53181)tCt>tAt	p.S17727Y	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S16086Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S8854Y|TTN_ENST00000460472.2_Missense_Mutation_p.S8662Y|TTN_ENST00000359218.5_Missense_Mutation_p.S8787Y|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S15159Y|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16086	Fibronectin type-III 28.						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)			AATTAGTTCAGATTTGGTTCC	0.448000													10	421					1.58986e-06	2.23698e-06	0.008291	1	0
PREX1	57580	broad.mit.edu	37	20	47267939	47267939	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:47267939C>A	ENST00000396220.1	-	22	2672	c.2650G>T	c.(2650-2652)Gcc>Tcc	p.A884S	PREX1_ENST00000371941.3_Missense_Mutation_p.A884S			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	884					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)			GAGACCTTGGCGGTGAGGCCG	0.617000													7	29					1.06961e-07	1.58006e-07	0.003080	1	0
EDA2R	60401	broad.mit.edu	37	X	65819692	65819692	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:65819692C>A	ENST00000374719.3	-	6	584	c.528G>T	c.(526-528)ctG>ctT	p.L176L	EDA2R_ENST00000396050.1_Silent_p.L176L|EDA2R_ENST00000450752.1_Silent_p.L197L|EDA2R_ENST00000253392.5_Silent_p.L197L|EDA2R_ENST00000451436.2_Silent_p.L52L|EDA2R_ENST00000456230.2_Silent_p.L176L	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	176					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCTCAAACTGCAGCAAACCTC	0.522000													12	16					1.05317e-09	1.68359e-09	0.002450	1	0
PARP12	64761	broad.mit.edu	37	7	139756937	139756937	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:139756937T>A	ENST00000263549.3	-	3	1352	c.479A>T	c.(478-480)aAc>aTc	p.N160I		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	160						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATCTCCTTTGTTGTAATGTTG	0.493000													33	97					0	0	0.002096	0	0
TOMM40L	84134	broad.mit.edu	37	1	161198044	161198044	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:161198044C>T	ENST00000367988.3	+	7	822	c.553C>T	c.(553-555)Cac>Tac	p.H185Y	TOMM40L_ENST00000367987.1_Missense_Mutation_p.H185Y|TOMM40L_ENST00000474486.1_3'UTR|TOMM40L_ENST00000545897.1_Missense_Mutation_p.H151Y	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like	185					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCTAGTTTATCACCGGCGGCC	0.592000											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	29					0	0	0.001368	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049077	36049077	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:36049077A>T	ENST00000282507.3	-	4	858	c.757T>A	c.(757-759)Ttt>Att	p.F253I	UGT3A2_ENST00000513300.1_Missense_Mutation_p.F219I|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	253						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)			TCAAAGGCAAAGTCAGAGTTA	0.418000													22	106					0	0	0.002780	0	0
FBXL14	144699	broad.mit.edu	37	12	1702803	1702803	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:1702803C>T	ENST00000339235.3	-	1	528	c.430G>A	c.(430-432)Ggc>Agc	p.G144S	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	144						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			ACCTCCAGGCCCTTGAGGTAC	0.622000													4	67					0	0	0.000248	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093208	143093208	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:143093208C>G	ENST00000367603.2	-	5	3410	c.2668G>C	c.(2668-2670)Gag>Cag	p.E890Q	HIVEP2_ENST00000367604.1_Missense_Mutation_p.E890Q|HIVEP2_ENST00000012134.2_Missense_Mutation_p.E890Q	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	890					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ACTCGAATCTCAGGAACCTGG	0.547000													8	56					0	0	0.006214	0	0
OR6B2	389090	broad.mit.edu	37	2	240969652	240969652	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:240969652G>T	ENST00000402971.2	-	1	254	c.195C>A	c.(193-195)tcC>tcA	p.S65S		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGAAAGACATGGAGCTCAGAA	0.552000													13	84					2.68362e-12	4.63256e-12	0.001368	1	0
DCT	1638	broad.mit.edu	37	13	95131399	95131399	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:95131399G>T	ENST00000377028.5	-	1	524	c.111C>A	c.(109-111)aaC>aaA	p.N37K	DCT_ENST00000446125.1_Missense_Mutation_p.N37K	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	37					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCACTCCTTGTTCACTAGGC	0.622000													13	37					0.00010058	0.000125564	0.001368	1	0
JARID2	3720	broad.mit.edu	37	6	15487586	15487586	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:15487586A>T	ENST00000341776.2	+	6	963	c.719A>T	c.(718-720)aAa>aTa	p.K240I	JARID2_ENST00000397311.3_Missense_Mutation_p.K68I|JARID2_ENST00000541660.1_Missense_Mutation_p.K202I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	240					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCTGTTCAAAAACACAAAAGC	0.532000													18	52					0	0	0.001523	0	0
FAM47C	442444	broad.mit.edu	37	X	37027491	37027491	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:37027491G>T	ENST00000358047.3	+	1	1060	c.1008G>T	c.(1006-1008)aaG>aaT	p.K336N		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	336								p.K336N(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGCCTCCCAAGACTCTGGTGT	0.617000													25	55					3.6726e-16	6.83345e-16	0.003954	1	0
TXNDC16	57544	broad.mit.edu	37	14	52936794	52936794	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:52936794C>A	ENST00000281741.4	-	16	1950	c.1579G>T	c.(1579-1581)Gtg>Ttg	p.V527L	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	527					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AATACTGACACACTAGAATAC	0.343000													7	75					8.12818e-05	0.000102127	0.001984	1	0
MARCH11	441061	broad.mit.edu	37	5	16067773	16067773	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:16067773G>T	ENST00000332432.8	-	4	1215	c.1016C>A	c.(1015-1017)tCc>tAc	p.S339Y		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	339						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCTACTTGTGGAAGACTCTCC	0.483000													15	70					1.05317e-09	1.68359e-09	0.002450	1	0
CSPG4	1464	broad.mit.edu	37	15	75980924	75980924	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:75980924C>G	ENST00000308508.5	-	3	2574	c.2482G>C	c.(2482-2484)Gct>Cct	p.A828P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	828	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTCCTGGGAGCCTGAACCACC	0.617000													11	69					0	0	0.001368	0	0
CLVS2	134829	broad.mit.edu	37	6	123319180	123319180	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:123319180C>G	ENST00000275162.4	+	2	1593	c.258C>G	c.(256-258)ttC>ttG	p.F86L	CLVS2_ENST00000368438.1_Intron	NM_001010852.2	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	86					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						TGGACATGTTCAAAAGCTTTA	0.547000													27	84					0	0	0.007291	0	0
RPS16	6217	broad.mit.edu	37	19	39924010	39924010	+	Missense_Mutation	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:39924010T>A	ENST00000339471.4	-	4	479	c.439A>T	c.(439-441)Atg>Ttg	p.M147L	RPS16_ENST00000601655.1_Missense_Mutation_p.Y98F|RPS16_ENST00000599539.1_3'UTR|RPS16_ENST00000251453.3_Missense_Mutation_p.Y115F			P62249	RS16_HUMAN	ribosomal protein S16	0					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|large_intestine(2)|lung(2)|skin(2)	7	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;4.14e-26)|all cancers(26;2.68e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTCCGGTCATACTGGATGAG	0.537000													11	57					0	0	0.001368	0	0
SNX14	57231	broad.mit.edu	37	6	86243356	86243356	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:86243356C>T	ENST00000314673.3	-	18	1947	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	SNX14_ENST00000508980.1_5'UTR|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000505648.1_Missense_Mutation_p.V539M|SNX14_ENST00000346348.3_Missense_Mutation_p.V538M|SNX14_ENST00000369627.2_Missense_Mutation_p.V582M	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	591	PX.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ATACAAAACACAGGAATTCTT	0.388000													11	58					0	0	0.008291	0	0
AADACL4	343066	broad.mit.edu	37	1	12725977	12725977	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:12725977G>T	ENST00000376221.1	+	4	455	c.455G>T	c.(454-456)cGc>cTc	p.R152L		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	152						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TTTAGGTACCGCAAGCTTCCT	0.512000													17	56					5.3912e-06	7.35017e-06	0.006122	1	0
NAP1L2	4674	broad.mit.edu	37	X	72433878	72433878	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:72433878T>C	ENST00000373517.3	-	1	806	c.451A>G	c.(451-453)Aga>Gga	p.R151G	NAP1L2_ENST00000536638.1_Missense_Mutation_p.R9G	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	151					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					ATCTGACGTCTTTTTTCCAGT	0.383000													3	116					0	0	0.004672	0	0
COL14A1	7373	broad.mit.edu	37	8	121357730	121357730	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:121357730G>A	ENST00000297848.3	+	45	5275	c.5005G>A	c.(5005-5007)Ggt>Agt	p.G1669S	COL14A1_ENST00000309791.4_Missense_Mutation_p.G1669S|COL14A1_ENST00000247781.3_Missense_Mutation_p.G1574S	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1669	Triple-helical region 2 (COL1).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TGGAGCCCCTGGTGAACAAGG	0.642000													8	39					0	0	0.004482	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144931223	144931223	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:144931223G>T	ENST00000529945.1	-	1	925	c.486C>A	c.(484-486)aaC>aaA	p.N162K	PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.N162K|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369354.3_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					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)		TCCTGGGTCGGTTTCCAGGGC	0.542000			T	PDGFRB	MPD								36	153					1.26612e-14	2.30234e-14	0.003271	1	0
CPS1	1373	broad.mit.edu	37	2	211525226	211525226	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:211525226G>T	ENST00000233072.5	+	32	3970	c.3774G>T	c.(3772-3774)ttG>ttT	p.L1258F	CPS1_ENST00000430249.2_Missense_Mutation_p.L1264F|CPS1_ENST00000451903.2_Missense_Mutation_p.L807F	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1258	ATP-grasp 2.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGTGTAACTTGAGAGCTTCTC	0.403000													37	149					5.04308e-16	9.35787e-16	0.006230	1	0
POLE	5426	broad.mit.edu	37	12	133218360	133218360	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:133218360C>A	ENST00000320574.5	-	39	5294	c.5251G>T	c.(5251-5253)Gcc>Tcc	p.A1751S	POLE_ENST00000535270.1_Missense_Mutation_p.A1724S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1751					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ATGCTGTCGGCCCCCTCCATG	0.607000								DNA polymerases (catalytic subunits)					8	27					1.12685e-05	1.50615e-05	0.004482	1	0
KCNH6	81033	broad.mit.edu	37	17	61607588	61607588	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:61607588G>C	ENST00000583023.1	+	3	455	c.444G>C	c.(442-444)ctG>ctC	p.L148L	KCNH6_ENST00000580652.1_Silent_p.L148L|KCNH6_ENST00000314672.5_Silent_p.L148L|KCNH6_ENST00000581784.1_Silent_p.L148L|KCNH6_ENST00000456941.2_Silent_p.L148L	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	148					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCCAGCGCCTGTTGTCCCAGA	0.642000													6	28					0	0	0.001168	0	0
FOXP4	116113	broad.mit.edu	37	6	41533600	41533600	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:41533600C>A	ENST00000373060.1	+	2	560	c.102C>A	c.(100-102)gcC>gcA	p.A34A	FOXP4_ENST00000373063.3_Silent_p.A34A|FOXP4_ENST00000409208.1_Silent_p.A34A|FOXP4_ENST00000373057.3_Silent_p.A34A|FOXP4_ENST00000307972.4_Silent_p.A34A	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	34					embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GCGGCGGGGCCACAGGGACAA	0.622000													25	69					4.02929e-09	6.35172e-09	0.002096	1	0
ATP2A2	488	broad.mit.edu	37	12	110760866	110760866	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:110760866C>T	ENST00000308664.6	+	6	1207	c.533C>T	c.(532-534)tCa>tTa	p.S178L	ATP2A2_ENST00000539276.2_Missense_Mutation_p.S178L|ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000395494.2_Intron	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	178					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding	p.S178L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						GTTGACCAGTCAATTCTCACA	0.378000													12	71					0	0	0.002450	0	0
FAT3	120114	broad.mit.edu	37	11	92613961	92613961	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:92613961C>G	ENST00000298047.6	+	22	12209	c.12192C>G	c.(12190-12192)tgC>tgG	p.C4064W	FAT3_ENST00000533797.1_Missense_Mutation_p.C399W|FAT3_ENST00000525166.1_Missense_Mutation_p.C3914W|FAT3_ENST00000409404.2_Missense_Mutation_p.C4064W			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4064	EGF-like 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTACAGCCTGCTTCCCAAACC	0.502000										TCGA Ovarian(4;0.039)			54	164					0	0	0.003610	0	0
IKBKB	3551	broad.mit.edu	37	8	42179669	42179669	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:42179669C>G	ENST00000520810.1	+	18	2022	c.1836C>G	c.(1834-1836)ctC>ctG	p.L612L	IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Silent_p.L610L|IKBKB_ENST00000379708.3_Silent_p.L389L|IKBKB_ENST00000416505.2_Silent_p.L553L	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	612					anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	ATACGCAGCTCAGGTATGAGC	0.547000													7	52					0	0	0.001984	0	0
MXRA5	25878	broad.mit.edu	37	X	3239969	3239969	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:3239969A>T	ENST00000217939.6	-	5	3911	c.3757T>A	c.(3757-3759)Tcc>Acc	p.S1253T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1253						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGGATCCGGACGCTCTTGAG	0.453000													44	121					0	0	0.002222	0	0
HDLBP	3069	broad.mit.edu	37	2	242195624	242195624	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:242195624C>T	ENST00000391975.1	-	7	1075	c.848G>A	c.(847-849)cGc>cAc	p.R283H	HDLBP_ENST00000427183.2_Missense_Mutation_p.R319H|HDLBP_ENST00000391976.2_Missense_Mutation_p.R283H|HDLBP_ENST00000310931.4_Missense_Mutation_p.R283H	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	283	KH 2.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding	p.R283L(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTTCTTGATGCGAGCCACAGC	0.512000													7	54					0	0	0.001984	0	0
TRBV7-8	28590	broad.mit.edu	37	7	142099595	142099595	+	RNA	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:142099595C>G	ENST00000390359.3	-	0	245																											GAGCTTCATTCTGGAAATAAG	0.522000													4	62					0	0	0.000248	0	0
ENTHD1	150350	broad.mit.edu	37	22	40139765	40139765	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr22:40139765C>T	ENST00000325157.6	-	7	1993	c.1743G>A	c.(1741-1743)atG>atA	p.M581I		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	581										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GACTCATGCTCATCAAGATGT	0.403000													8	47					0	0	0.003080	0	0
DTNA	1837	broad.mit.edu	37	18	32455254	32455254	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:32455254C>A	ENST00000283365.9	+	17	1894	c.1543C>A	c.(1543-1545)Cca>Aca	p.P515T	DTNA_ENST00000598334.1_Missense_Mutation_p.P512T|DTNA_ENST00000601125.1_Missense_Mutation_p.P194T|DTNA_ENST00000590831.2_5'UTR|DTNA_ENST00000591182.1_Missense_Mutation_p.P220T|DTNA_ENST00000556414.3_Missense_Mutation_p.P224T|DTNA_ENST00000269190.7_Missense_Mutation_p.P573T|DTNA_ENST00000444659.1_Missense_Mutation_p.P572T|DTNA_ENST00000269192.7_Missense_Mutation_p.P281T|DTNA_ENST00000399097.3_Missense_Mutation_p.P220T|DTNA_ENST00000598142.1_Missense_Mutation_p.P515T|DTNA_ENST00000399121.5_Missense_Mutation_p.P519T|DTNA_ENST00000595022.1_Missense_Mutation_p.P512T|DTNA_ENST00000399113.3_Missense_Mutation_p.P572T	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	572					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						CATCAGCAGGCCAATTCCCAT	0.587000													9	34					0.00621372	0.00717819	0.006214	1	0
FNDC3B	64778	broad.mit.edu	37	3	171965348	171965348	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:171965348G>T	ENST00000336824.4	+	5	389	c.290G>T	c.(289-291)cGc>cTc	p.R97L	FNDC3B_ENST00000415807.2_Missense_Mutation_p.R97L|FNDC3B_ENST00000416957.1_Missense_Mutation_p.R97L	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	97						endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ACTGGAGTCCGCCGGGTGGTG	0.458000													32	120					5.6714e-07	8.09691e-07	0.002096	1	0
HSPB2	3316	broad.mit.edu	37	11	111784584	111784584	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:111784584G>A	ENST00000304298.3	+	2	1102	c.514G>A	c.(514-516)Gag>Aag	p.E172K	CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.E172K|HSPB2-C11orf52_ENST00000534100.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	172					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		TCCTGATCCAGAGGAAGAGGA	0.572000													6	28					0	0	0.001984	0	0
GPR75	10936	broad.mit.edu	37	2	54080865	54080865	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:54080865C>A	ENST00000394705.2	-	2	1299	c.1029G>T	c.(1027-1029)caG>caT	p.Q343H	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	343						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAGAACCACCTGTACCAAGG	0.433000													20	36					6.33239e-15	1.15768e-14	0.001523	1	0
GPR128	84873	broad.mit.edu	37	3	100356151	100356151	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:100356151G>A	ENST00000273352.3	+	6	871	c.603G>A	c.(601-603)aaG>aaA	p.K201K	GPR128_ENST00000475887.1_5'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	201					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GGCAGGCAAAGAAAGTTGCCA	0.393000													3	37					0	0	0.000602	0	0
OR4C3	256144	broad.mit.edu	37	11	48347249	48347249	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:48347249C>A	ENST00000319856.4	+	1	778	c.757C>A	c.(757-759)Cac>Aac	p.H253N		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTTGAGGTCCCACAGTGCAGA	0.498000													9	97					0.00448238	0.00522241	0.004482	1	0
SETX	23064	broad.mit.edu	37	9	135158694	135158694	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:135158694C>A	ENST00000372169.2	-	19	6685	c.6503G>T	c.(6502-6504)cGt>cTt	p.R2168L	SETX_ENST00000393220.1_Missense_Mutation_p.R2168L|SETX_ENST00000224140.5_Missense_Mutation_p.R2168L			Q7Z333	SETX_HUMAN	senataxin	2168					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CCCTTGCCCACGGAAAGCAGA	0.478000													7	57					8.12818e-05	0.000102127	0.001984	1	0
GDF5	8200	broad.mit.edu	37	20	34021970	34021970	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr20:34021970C>A	ENST00000374372.1	-	4	1746	c.1243G>T	c.(1243-1245)Gac>Tac	p.D415Y	GDF5OS_ENST00000374375.1_Missense_Mutation_p.S5Y|GDF5_ENST00000374369.3_Missense_Mutation_p.D415Y			P43026	GDF5_HUMAN	growth differentiation factor 5	415					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ATCCAGTCGTCCCAGCCCATG	0.612000													23	54					1.96895e-08	2.98631e-08	0.002780	1	0
TRRAP	8295	broad.mit.edu	37	7	98546278	98546278	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:98546278G>A	ENST00000359863.4	+	34	4946	c.4737G>A	c.(4735-4737)ctG>ctA	p.L1579L	TRRAP_ENST00000355540.3_Silent_p.L1561L|TRRAP_ENST00000446306.3_Silent_p.L1560L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1579					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCCACACTGAACGATCCCC	0.527000													8	56					0	0	0.004482	0	0
NCOA2	10499	broad.mit.edu	37	8	71068584	71068584	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:71068584C>A	ENST00000452400.2	-	11	2197	c.2016G>T	c.(2014-2016)ttG>ttT	p.L672F	NCOA2_ENST00000524223.1_5'UTR	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	672					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGAACCAGGCAAGCTACCTG	0.517000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								62	71					1.72039e-30	3.49727e-30	0.003610	1	0
NTRK3	4916	broad.mit.edu	37	15	88680741	88680741	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:88680741C>A	ENST00000394480.1	-	7	837	c.516G>T	c.(514-516)caG>caT	p.Q172H	NTRK3_ENST00000558676.1_Missense_Mutation_p.Q172H|NTRK3_ENST00000557856.1_Missense_Mutation_p.Q172H|NTRK3_ENST00000540489.2_Missense_Mutation_p.Q172H|NTRK3_ENST00000360948.2_Missense_Mutation_p.Q172H|NTRK3_ENST00000542733.2_Missense_Mutation_p.Q74H|NTRK3_ENST00000317501.3_Missense_Mutation_p.Q172H|NTRK3_ENST00000355254.2_Missense_Mutation_p.Q172H|NTRK3_ENST00000357724.2_Missense_Mutation_p.Q172H	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	172	LRRCT.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTGCCAGAGCTGCATCCAGC	0.567000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			9	19					1.12685e-05	1.50615e-05	0.004482	1	0
LMTK2	22853	broad.mit.edu	37	7	97780744	97780744	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:97780744A>T	ENST00000297293.5	+	4	720	c.427A>T	c.(427-429)Att>Ttt	p.I143F	LMTK2_ENST00000493372.1_3'UTR	NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	143	Protein kinase.				early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CATACAGGAAATTGGAAATGG	0.358000													17	40					0	0	0.007413	0	0
OR6Y1	391112	broad.mit.edu	37	1	158516985	158516985	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:158516985G>T	ENST00000302617.3	-	1	910	c.911C>A	c.(910-912)gCa>gAa	p.A304E		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TCTGAGGGCTGCCTTTACTTC	0.438000													25	80					2.21704e-12	3.83685e-12	0.002780	1	0
STAT4	6775	broad.mit.edu	37	2	191895766	191895766	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:191895766G>A	ENST00000392320.2	-	23	2466	c.2152C>T	c.(2152-2154)Ctt>Ttt	p.L718F	STAT4_ENST00000358470.4_Missense_Mutation_p.L718F|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	718					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GACATGGGAAGAAGGTCTGAT	0.403000													7	212					0	0	0.004482	0	0
TCHHL1	126637	broad.mit.edu	37	1	152058087	152058087	+	Nonsense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:152058087C>A	ENST00000368806.1	-	3	2135	c.2071G>T	c.(2071-2073)Gga>Tga	p.G691*		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	691							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)			TCTCCCTTTCCAGGGAGCTGC	0.458000													33	171					2.80507e-11	4.75779e-11	0.002445	1	0
CYP2B7P	1556	broad.mit.edu	37	19	41445035	41445035	+	RNA	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:41445035G>T	ENST00000599198.1	+	0	699					NR_001278.1															NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12						ATCCAGCCAGGTCCAGGAGAG	0.507000													5	23					3.59834e-05	4.62352e-05	0.001168	1	0
PRMT8	56341	broad.mit.edu	37	12	3702309	3702309	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:3702309G>C	ENST00000382622.3	+	10	1536	c.1146G>C	c.(1144-1146)ctG>ctC	p.L382L	PRMT8_ENST00000452611.2_Silent_p.L373L|PRMT8_ENST00000261252.4_3'UTR	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	382					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			AGGGACAGCTGTGTGAAACAT	0.517000													7	28					0	0	0.001984	0	0
TENM1	10178	broad.mit.edu	37	X	123838989	123838989	+	Nonsense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:123838989G>A	ENST00000422452.2	-	5	952	c.889C>T	c.(889-891)Cga>Tga	p.R297*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.R297*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAGGTGCTTCGAGGAAGAGGC	0.522000													10	149					0	0	0.008291	0	0
GPR183	1880	broad.mit.edu	37	13	99948198	99948198	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:99948198G>A	ENST00000376414.4	-	2	285	c.202C>T	c.(202-204)Ctc>Ttc	p.L68F	UBAC2_ENST00000376440.2_Intron|UBAC2_ENST00000403766.3_Intron	NM_004951.4	NP_004942.1	P32249	GP183_HUMAN	G protein-coupled receptor 183	68					humoral immune response|mature B cell differentiation involved in immune response	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	23						GTTGAATAGAGGGTGGTAGAG	0.433000													9	57					0	0	0.006214	0	0
NRP2	8828	broad.mit.edu	37	2	206659578	206659578	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:206659578C>A	ENST00000360409.3	+	17	3383	c.2592C>A	c.(2590-2592)ccC>ccA	p.P864P	NRP2_ENST00000540178.1_Silent_p.P859P|NRP2_ENST00000412873.2_Silent_p.P842P|NRP2_ENST00000357785.5_Silent_p.P859P|NRP2_ENST00000540841.1_Silent_p.P842P	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	864					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCCTGGATCCCATCCTCATCA	0.587000													13	72					1.5842e-08	2.41892e-08	0.001855	1	0
RHOG	391	broad.mit.edu	37	11	3849149	3849149	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:3849149G>C	ENST00000351018.4	-	2	377	c.220C>G	c.(220-222)Cag>Gag	p.Q74E	RHOG_ENST00000396979.1_Missense_Mutation_p.Q74E|RHOG_ENST00000396978.1_Missense_Mutation_p.Q74E|RHOG_ENST00000533217.1_Missense_Mutation_p.Q74E	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	74					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACGTTGGTCTGAGGGTAGGAG	0.602000													4	59					0	0	0.001984	0	0
SFTPB	6439	broad.mit.edu	37	2	85893739	85893739	+	Splice_Site	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:85893739C>A	ENST00000393822.3	-	5	529		c.e5+1		SFTPB_ENST00000519937.2_Splice_Site|SFTPB_ENST00000342375.3_Splice_Site|SFTPB_ENST00000409383.1_Splice_Site			P07988	PSPB_HUMAN	surfactant protein B						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						GCAGCCCTCACAGTCTGGTTC	0.622000													18	35					9.7654e-05	0.000122472	0.007413	1	0
CLEC11A	6320	broad.mit.edu	37	19	51228646	51228646	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:51228646G>T	ENST00000599973.1	+	4	946	c.943G>T	c.(943-945)Gca>Tca	p.A315S	CLEC11A_ENST00000250340.4_Silent_p.A298A			Q9Y240	CLC11_HUMAN	C-type lectin domain family 11, member A	0	C-type lectin.				positive regulation of cell proliferation	cytoplasm|extracellular region	growth factor activity|sugar binding			kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	7		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		ACTGCGTGGCGCAGGCCTCTG	0.721000													8	15					0.000673444	0.000806002	0.008291	1	0
COL1A2	1278	broad.mit.edu	37	7	94049556	94049556	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:94049556G>T	ENST00000297268.6	+	35	2562	c.2091G>T	c.(2089-2091)ggG>ggT	p.G697G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	697			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCGAAGCTGGGGctgctggtc	0.493000										HNSCC(75;0.22)			33	86					1.414e-09	2.24722e-09	0.003755	1	0
SNHG14	104472715	broad.mit.edu	37	15	25490538	25490538	+	RNA	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:25490538G>C	ENST00000453082.2	+	0	2689					NR_003343.1																						CAGACCCTCCGTGGCACCCTG	0.617000													11	54					0	0	0.008291	0	0
NDNF	79625	broad.mit.edu	37	4	121966809	121966809	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:121966809T>C	ENST00000379692.4	-	2	710	c.184A>G	c.(184-186)Aag>Gag	p.K62E		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	62										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GAATACCTCTTAGGTGTATCT	0.358000													24	20					0	0	0.004656	0	0
ZNF682	91120	broad.mit.edu	37	19	20117282	20117282	+	Silent	SNP	A	A	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:20117282A>G	ENST00000397165.2	-	4	1189	c.1029T>C	c.(1027-1029)tgT>tgC	p.C343C	ZNF682_ENST00000358523.5_Silent_p.C311C|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000597972.1_Silent_p.C349C|ZNF682_ENST00000595736.1_Silent_p.C267C|ZNF682_ENST00000397162.1_Silent_p.C311C	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						CACATTCTTCACATTTATAGG	0.373000													19	37					0	0	0.007413	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033604	26033604	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:26033604C>G	ENST00000259791.2	-	1	192	c.193G>C	c.(193-195)Gag>Cag	p.E65Q		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	65					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCCGCCAGCTCCAGGATCTCG	0.637000													4	70					0	0	0.001168	0	0
IGF1R	3480	broad.mit.edu	37	15	99250831	99250831	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:99250831G>T	ENST00000268035.6	+	2	746	c.135G>T	c.(133-135)caG>caT	p.Q45H	IGF1R_ENST00000558762.1_Missense_Mutation_p.Q45H	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	45					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACTATCAGCAGCTGAAGCGCC	0.527000													7	25					8.12818e-05	0.000102127	0.001984	1	0
FAM169B	283777	broad.mit.edu	37	15	98995109	98995109	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:98995109T>A	ENST00000558256.1	-	5	564	c.315A>T	c.(313-315)ccA>ccT	p.P105P	FAM169B_ENST00000332908.4_Silent_p.P105P	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	105										large_intestine(3)|lung(3)|urinary_tract(1)	7						CCTCGTCCTCTGGGAATGTCT	0.562000													5	14					0	0	0.000602	0	0
SATB2	23314	broad.mit.edu	37	2	200136964	200136964	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:200136964C>T	ENST00000443023.1	-	10	3460	c.1995G>A	c.(1993-1995)aaG>aaA	p.K665K	SATB2_ENST00000417098.1_Silent_p.K724K|SATB2_ENST00000457245.1_Silent_p.K724K|SATB2_ENST00000428695.1_Silent_p.K606K|SATB2_ENST00000260926.5_Silent_p.K724K			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	724						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAGGTGCTGCCTTGCTTTTGT	0.468000													19	94					0	0	0.007413	0	0
CLIP2	7461	broad.mit.edu	37	7	73790803	73790803	+	Missense_Mutation	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:73790803A>T	ENST00000223398.6	+	10	2399	c.2072A>T	c.(2071-2073)gAg>gTg	p.E691V	CLIP2_ENST00000395060.1_Missense_Mutation_p.E691V|CLIP2_ENST00000361545.5_Missense_Mutation_p.E656V	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	691						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AAGCTGCAGGAGGCCCAGGAG	0.672000													5	18					0	0	0.000602	0	0
EPHB1	2047	broad.mit.edu	37	3	134885845	134885845	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:134885845C>A	ENST00000398015.3	+	9	2126	c.1756C>A	c.(1756-1758)Cga>Aga	p.R586R	EPHB1_ENST00000493838.1_Silent_p.R147R	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	586						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CAGCACAGGCCGAGGTAAGTA	0.547000													22	179					4.16121e-05	5.30175e-05	0.002780	1	0
GPR111	222611	broad.mit.edu	37	6	47646726	47646726	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:47646726C>T	ENST00000398742.2	+	3	172	c.123C>T	c.(121-123)tgC>tgT	p.C41C	GPR111_ENST00000507065.1_Silent_p.C41C|GPR111_ENST00000296862.1_Silent_p.C109C			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	109					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CAGGTGTATGCGATGGTGTCT	0.517000													12	55					0	0	0.001855	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12885040	12885040	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:12885040G>A	ENST00000535591.1	-	4	1266	c.1071C>T	c.(1069-1071)aaC>aaT	p.N357N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	357										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGCTCAGCAGGTTCTCCAGGG	0.537000													29	392					0	0	0.002096	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30888056	30888056	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:30888056G>C	ENST00000251071.5	-	4	1405	c.655C>G	c.(655-657)Caa>Gaa	p.Q219E	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.Q219E|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.Q219E|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.Q219E|CAPRIN2_ENST00000308433.5_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	219					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TACTGAACTTGAAGTATAGTT	0.408000													66	133					0	0	0.003610	0	0
DCAKD	79877	broad.mit.edu	37	17	43111717	43111717	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:43111717C>A	ENST00000452796.2	-	2	409	c.154G>T	c.(154-156)Gtc>Ttc	p.V52F	DCAKD_ENST00000310604.4_Missense_Mutation_p.V52F|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000342350.5_Missense_Mutation_p.V52F|DCAKD_ENST00000588499.1_Missense_Mutation_p.V52F			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	52	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				GTGCCGAAGACCTCTACGATG	0.617000													6	24					8.12818e-05	0.000102127	0.001984	1	0
COLEC11	78989	broad.mit.edu	37	2	3691331	3691331	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:3691331C>A	ENST00000403096.3	+	6	852	c.361C>A	c.(361-363)Cgc>Agc	p.R121S	COLEC11_ENST00000382062.2_Missense_Mutation_p.R123S|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000349077.4_Missense_Mutation_p.R147S|COLEC11_ENST00000402794.1_Missense_Mutation_p.R97S|COLEC11_ENST00000418971.2_Missense_Mutation_p.R161S|COLEC11_ENST00000404205.1_Missense_Mutation_p.R73S|COLEC11_ENST00000236693.7_Missense_Mutation_p.R144S|COLEC11_ENST00000402922.1_Missense_Mutation_p.R97S	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	147						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CGCCGGTGTGCGCGAGACGGA	0.632000													12	43					7.03913e-09	1.0907e-08	0.001368	1	0
MAL	4118	broad.mit.edu	37	2	95713808	95713808	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:95713808C>A	ENST00000309988.4	+	2	307	c.198C>A	c.(196-198)acC>acA	p.T66T	MAL_ENST00000349807.3_Intron|MAL_ENST00000354078.3_Intron|MAL_ENST00000353004.3_Silent_p.T66T	NM_002371.3	NP_002362.1	P21145	MAL_HUMAN	mal, T-cell differentiation protein	66	MARVEL.				apical protein localization|cell differentiation|central nervous system development|induction of apoptosis|membrane raft polarization|myelination	apical plasma membrane|endoplasmic reticulum|endosome|integral to plasma membrane|membrane raft	apoptotic protease activator activity|channel activity|lipid binding|structural constituent of myelin sheath			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(2)	10				STAD - Stomach adenocarcinoma(1183;0.18)		TCGTGGCCACCACCACCTTGA	0.627000													8	23					0.00307968	0.00360664	0.003080	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174200322	174200322	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:174200322C>T	ENST00000251507.4	+	4	545	c.371C>T	c.(370-372)cCt>cTt	p.P124L	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.P87L|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	124					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGTGGACTACCTGAAGAAGAT	0.383000													14	76					0	0	0.001855	0	0
OR9G1	390174	broad.mit.edu	37	11	56468604	56468604	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:56468604C>G	ENST00000312153.1	+	1	741	c.741C>G	c.(739-741)gtC>gtG	p.V247V		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGACCTCTGTCACTTTATACT	0.453000													21	271					0	0	0.001523	0	0
AADAT	51166	broad.mit.edu	37	4	171010812	171010812	+	Silent	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:171010812C>G	ENST00000337664.4	-	1	306	c.30G>C	c.(28-30)gcG>gcC	p.A10A	AADAT_ENST00000515480.1_Silent_p.A10A|AADAT_ENST00000353187.2_Silent_p.A10A|AADAT_ENST00000509167.1_Silent_p.A10A	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	10					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TGGCTGCGCTCGCTGCCGTGA	0.537000											OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	110					0	0	0.007835	0	0
MARCH10	162333	broad.mit.edu	37	17	60821831	60821831	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:60821831T>C	ENST00000544856.2	-	6	816	c.438A>G	c.(436-438)acA>acG	p.T146T	MARCH10_ENST00000583600.1_Silent_p.T185T|MARCH10_ENST00000311269.5_Silent_p.T147T|MARCH10_ENST00000456609.2_Silent_p.T147T			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	147							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTGGGCTGACTGTAAATCTCC	0.478000													24	77					0	0	0.003330	0	0
ANXA6	309	broad.mit.edu	37	5	150483222	150483222	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:150483222C>G	ENST00000354546.5	-	25	2098	c.1871G>C	c.(1870-1872)aGg>aCg	p.R624T	ANXA6_ENST00000523714.1_Missense_Mutation_p.R592T|ANXA6_ENST00000356496.5_Missense_Mutation_p.R618T|ANXA6_ENST00000521512.1_Missense_Mutation_p.R411T|ANXA6_ENST00000377751.5_Missense_Mutation_p.R281T	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	624						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TACCATGATCCTGGTCAGAGT	0.532000													6	8					0	0	0.001984	0	0
TTN	7273	broad.mit.edu	37	2	179640809	179640809	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179640809C>G	ENST00000589042.1	-	28	6006	c.5782G>C	c.(5782-5784)Gag>Cag	p.E1928Q	TTN_ENST00000591111.1_Missense_Mutation_p.E1928Q|TTN_ENST00000342175.6_Missense_Mutation_p.E1882Q|TTN_ENST00000460472.2_Missense_Mutation_p.E1882Q|TTN_ENST00000359218.5_Missense_Mutation_p.E1882Q|TTN_ENST00000342992.6_Missense_Mutation_p.E1928Q|TTN_ENST00000360870.5_Missense_Mutation_p.E1928Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1648	Ig-like 9.						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)			TGTTGAATCTCAAGCTTCACT	0.458000													5	229					0	0	0.000602	0	0
CXADR	1525	broad.mit.edu	37	21	18924196	18924196	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr21:18924196G>C	ENST00000284878.7	+	3	1088	c.340G>C	c.(340-342)Gat>Cat	p.D114H	CXADR_ENST00000400169.1_Missense_Mutation_p.D114H|CXADR_ENST00000356275.6_Intron|CXADR_ENST00000400165.1_Missense_Mutation_p.D114H|CXADR_ENST00000306618.10_Missense_Mutation_p.D114H|CXADR_ENST00000400166.1_Missense_Mutation_p.D114H	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	114	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ACAACTGTCAGATATTGGCAC	0.348000													3	40					0	0	0.000602	0	0
FAM228A	653140	broad.mit.edu	37	2	24413446	24413446	+	Silent	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:24413446C>A	ENST00000295150.3	+	6	653	c.567C>A	c.(565-567)ggC>ggA	p.G189G		NM_001040710.1	NP_001035800.1			family with sequence similarity 228, member A																		TGGGGCGGGGCTGGCATGCAG	0.597000													17	44					5.35267e-07	7.65791e-07	0.007413	1	0
MED25	81857	broad.mit.edu	37	19	50332242	50332242	+	Silent	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:50332242G>T	ENST00000312865.6	+	5	473	c.420G>T	c.(418-420)cgG>cgT	p.R140R	MED25_ENST00000538643.1_Intron	NM_030973.3	NP_112235.2	Q71SY5	MED25_HUMAN	mediator complex subunit 25	140	Interaction with the Mediator complex.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1)	17		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122)		AGACGCACCGGGTCTGCCTCC	0.562000													6	25					2.0095e-06	2.81e-06	0.001984	1	0
GAB3	139716	broad.mit.edu	37	X	153941501	153941501	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:153941501C>G	ENST00000369575.3	-	3	605	c.574G>C	c.(574-576)Gga>Cga	p.G192R	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.G193R	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	192										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCAGTCTTCCAGTCTCGCAG	0.517000													3	87					0	0	0.004672	0	0
HECA	51696	broad.mit.edu	37	6	139498129	139498129	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:139498129G>T	ENST00000367658.2	+	4	1804	c.1519G>T	c.(1519-1521)Ggg>Tgg	p.G507W	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	507					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CGTGAGGATCGGGATGCAGTA	0.542000													6	15					8.12818e-05	0.000102127	0.001984	1	0
PHEX	5251	broad.mit.edu	37	X	22112188	22112188	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:22112188G>T	ENST00000379374.4	+	7	1385	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L	PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Missense_Mutation_p.V177L|PHEX_ENST00000537599.1_Missense_Mutation_p.V274L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	274					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CATGAAGTCAGTGCTCAGATT	0.388000													20	42					1.56452e-12	2.71796e-12	0.007413	1	0
WDR59	79726	broad.mit.edu	37	16	74927676	74927676	+	Nonsense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:74927676G>C	ENST00000262144.6	-	19	2031	c.1901C>G	c.(1900-1902)tCa>tGa	p.S634*		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	634										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCCAGAGTCTGATCCCTCACG	0.478000													3	74					0	0	0.000248	0	0
ITSN2	50618	broad.mit.edu	37	2	24533223	24533223	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:24533223G>C	ENST00000355123.4	-	7	1026	c.583C>G	c.(583-585)Ctg>Gtg	p.L195V	ITSN2_ENST00000361999.3_Missense_Mutation_p.L195V|ITSN2_ENST00000406921.3_Missense_Mutation_p.L195V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	195					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCATCATCAGACTATAAGAT	0.343000													77	199					0	0	0.003610	0	0
ARID2	196528	broad.mit.edu	37	12	46244208	46244208	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:46244208G>T	ENST00000334344.6	+	15	2474	c.2302G>T	c.(2302-2304)Gta>Tta	p.V768L	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.V619L|ARID2_ENST00000444670.1_Missense_Mutation_p.V378L	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	768					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCATCCATCTGTAATTCCACA	0.463000			"""N, S, F"""		hepatocellular carcinoma								6	24					3.59834e-05	4.62352e-05	0.001168	1	0
BZW2	28969	broad.mit.edu	37	7	16714111	16714111	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:16714111C>T	ENST00000433922.2	+	3	311	c.133C>T	c.(133-135)Ctt>Ttt	p.L45F	BZW2_ENST00000258761.3_Missense_Mutation_p.L45F|BZW2_ENST00000405202.1_5'UTR|BZW2_ENST00000452975.2_Missense_Mutation_p.L45F	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	45					cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TGGTGATGACCTTGAAGCTGT	0.423000													22	85					0	0	0.002780	0	0
ADAM21	8747	broad.mit.edu	37	14	70925550	70925550	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:70925550C>T	ENST00000603540.1	+	2	1592	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V	ADAM21_ENST00000267499.3_Missense_Mutation_p.A445V|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	445	Disintegrin.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCTGGGGCTGCCTGTGCTTTT	0.498000													27	46					0	0	0.005443	0	0
ALMS1	7840	broad.mit.edu	37	2	73650100	73650100	+	Silent	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:73650100G>C	ENST00000264448.6	+	4	873	c.762G>C	c.(760-762)ctG>ctC	p.L254L	ALMS1_ENST00000409009.1_Silent_p.L212L|ALMS1_ENST00000377715.1_Silent_p.L254L	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	254					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTGCACCTCTGAGGTAGGATG	0.398000													5	154					0	0	0.000602	0	0
AP4M1	9179	broad.mit.edu	37	7	99701314	99701314	+	Splice_Site	SNP	A	A	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:99701314A>T	ENST00000429084.1	+	6	721	c.564_splice	c.e6+1	p.Q188_splice	AP4M1_ENST00000421755.1_Splice_Site_p.Q181_splice|AP4M1_ENST00000359593.4_Splice_Site_p.Q181_splice|AP4M1_ENST00000422582.1_Splice_Site_p.Q53_splice			O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	181	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCTCTGACCAGGTGAGGGAA	0.597000													39	110					0	0	0.004289	0	0
OTOA	146183	broad.mit.edu	37	16	21730494	21730494	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr16:21730494G>T	ENST00000388958.3	+	15	1671	c.1670G>T	c.(1669-1671)aGg>aTg	p.R557M	OTOA_ENST00000286149.4_Missense_Mutation_p.R571M|OTOA_ENST00000388957.3_Missense_Mutation_p.R233M|OTOA_ENST00000388956.4_Missense_Mutation_p.R478M	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	571					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ACCACCAGAAGGCCTGAGGAG	0.527000													16	47					1.37522e-17	2.62333e-17	0.007413	1	0
RP11-407N17.3	0	broad.mit.edu	37	14	39716500	39716500	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:39716500C>T	ENST00000553728.1	+	4	935	c.722C>T	c.(721-723)tCa>tTa	p.S241L	MIA2_ENST00000280082.3_Missense_Mutation_p.S241L|MIA2_ENST00000556784.1_Missense_Mutation_p.S240L																							GCTTTTGAATCAGTTATTGAA	0.418000													13	41					0	0	0.001368	0	0
CSMD3	114788	broad.mit.edu	37	8	113529330	113529330	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:113529330C>G	ENST00000297405.5	-	28	4933	c.4689G>C	c.(4687-4689)gaG>gaC	p.E1563D	CSMD3_ENST00000352409.3_Missense_Mutation_p.E1563D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E1523D|CSMD3_ENST00000455883.2_Missense_Mutation_p.E1459D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1563	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTATTCTTTCCTCTCCTTGAA	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			24	70					0	0	0.004656	0	0
SLIT2	9353	broad.mit.edu	37	4	20541151	20541151	+	Silent	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:20541151T>C	ENST00000504154.1	+	19	2172	c.1920T>C	c.(1918-1920)aaT>aaC	p.N640N	SLIT2_ENST00000273739.5_Silent_p.N644N|SLIT2_ENST00000503837.1_Silent_p.N636N|SLIT2_ENST00000503823.1_Silent_p.N632N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	640					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTATGATAATCAAATTACTA	0.378000													9	42					0	0	0.004482	0	0
HOXD1	3231	broad.mit.edu	37	2	177054838	177054838	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:177054838G>T	ENST00000331462.4	+	2	1178	c.955G>T	c.(955-957)Ggc>Tgc	p.G319C		NM_024501.1	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	319						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CAAGAACCCCGGCAGCCCTTC	0.587000													10	54					9.70103e-10	1.55811e-09	0.008291	1	0
KCNB2	9312	broad.mit.edu	37	8	73480145	73480145	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:73480145C>A	ENST00000523207.1	+	2	764	c.176C>A	c.(175-177)aCg>aAg	p.T59K		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	59					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CTGCCCAGGACGCGCCTGGGG	0.537000													30	82					5.6714e-07	8.09691e-07	0.002096	1	0
NUP188	23511	broad.mit.edu	37	9	131715112	131715112	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:131715112T>C	ENST00000372577.2	+	3	169	c.148T>C	c.(148-150)Tac>Cac	p.Y50H	NUP188_ENST00000550219.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Silent_p.T70T	NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	50					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTTTCTTACTACAAACCTCC	0.403000													3	81					0	0	0.004672	0	0
B2M	567	broad.mit.edu	37	15	45007761	45007761	+	Nonsense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr15:45007761G>T	ENST00000558401.1	+	2	278	c.208G>T	c.(208-210)Gag>Tag	p.E70*	B2M_ENST00000559916.1_Nonsense_Mutation_p.E70*|B2M_ENST00000559220.1_Intron|B2M_ENST00000544417.1_Nonsense_Mutation_p.E70*	NM_004048.2	NP_004039.1	P61769	B2MG_HUMAN	beta-2-microglobulin	70	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.K61_L74del(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		TGAAAAAGTGGAGCATTCAGA	0.413000													9	46					0.00448238	0.00522241	0.004482	1	0
MLLT10	8028	broad.mit.edu	37	10	22002777	22002777	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:22002777C>T	ENST00000377072.3	+	15	2172	c.1824C>T	c.(1822-1824)tcC>tcT	p.S608S	MLLT10_ENST00000307729.7_Silent_p.S592S|MLLT10_ENST00000446906.2_Silent_p.S592S|MLLT10_ENST00000377059.3_Silent_p.S592S	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	608	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CTCCTGTCTCCAGCTCTCACT	0.453000			T	"""MLL, PICALM, CDK6"""	AL								13	65					0	0	0.004007	0	0
TTC23L	153657	broad.mit.edu	37	5	34845617	34845617	+	Missense_Mutation	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:34845617C>T	ENST00000505624.1	+	3	197	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	32							binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						GATCCCAGCTCACCAGCAAAC	0.458000													5	91					0	0	0.000602	0	0
KLHL41	10324	broad.mit.edu	37	2	170367183	170367183	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:170367183G>A	ENST00000284669.1	+	1	972	c.895G>A	c.(895-897)Gga>Aga	p.G299R	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2			kelch-like family member 41																		TCCCAGGCATGGAATGTTTGT	0.473000													12	62					0	0	0.000978	0	0
XRN1	54464	broad.mit.edu	37	3	142139947	142139947	+	Missense_Mutation	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:142139947C>G	ENST00000264951.4	-	10	1201	c.1084G>C	c.(1084-1086)Gaa>Caa	p.E362Q	XRN1_ENST00000463916.1_Missense_Mutation_p.E362Q|XRN1_ENST00000392981.2_Missense_Mutation_p.E362Q|XRN1_ENST00000544157.1_Missense_Mutation_p.E152Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	362					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACTTTGCTTTCAAACCATTTT	0.338000													5	131					0	0	0.001168	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061306	103061306	+	Silent	SNP	T	T	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:103061306T>A	ENST00000306312.3	-	4	432	c.171A>T	c.(169-171)atA>atT	p.I57I	SLC26A5_ENST00000393727.1_Silent_p.I57I|SLC26A5_ENST00000393730.1_Silent_p.I57I|SLC26A5_ENST00000393735.2_Silent_p.I57I|SLC26A5_ENST00000432958.2_Silent_p.I57I|SLC26A5_ENST00000393723.1_Silent_p.I57I|SLC26A5_ENST00000393729.1_Silent_p.I57I|SLC26A5_ENST00000356767.4_Silent_p.I57I|SLC26A5_ENST00000354356.4_5'UTR|SLC26A5_ENST00000339444.6_Silent_p.I57I	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	57					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGATATTTCTTATTTTTTTAG	0.358000													16	53					0	0	0.004007	0	0
MYH13	8735	broad.mit.edu	37	17	10265707	10265707	+	Silent	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:10265707G>A	ENST00000418404.3	-	3	481	c.318C>T	c.(316-318)ctC>ctT	p.L106L	MYH13_ENST00000570743.1_Silent_p.L106L|MYH13_ENST00000252172.4_Silent_p.L106L			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	106	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCGCTCTTTGAGGTTGTACA	0.443000													10	120					0	0	0.000978	0	0
PNN	5411	broad.mit.edu	37	14	39644500	39644500	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:39644500G>A	ENST00000216832.4	+	1	84	c.17G>A	c.(16-18)aGa>aAa	p.R6K	PNN_ENST00000556530.1_Missense_Mutation_p.R6K|RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000553331.1_Missense_Mutation_p.R6K	NM_002687.3	NP_002678.2	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	6	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GTCGCCGTGAGAACTTTGCAG	0.592000													3	9					0	0	0.004672	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034915	107034915	+	RNA	SNP	C	C	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:107034915C>G	ENST00000390626.2	-	0	223																											TCTGGCGCACCCAGCCGATCC	0.567000													9	20					0	0	0.006214	0	0
PPP2R1B	5519	broad.mit.edu	37	11	111623033	111623033	+	Missense_Mutation	SNP	G	G	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:111623033G>C	ENST00000527614.1	-	10	1253	c.1188C>G	c.(1186-1188)atC>atG	p.I396M	PPP2R1B_ENST00000393055.2_Missense_Mutation_p.I269M|PPP2R1B_ENST00000341980.6_Missense_Mutation_p.I351M|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.I332M|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.I235M|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.I396M	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	396							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		AATTGGAGATGATATTCAAAC	0.448000													3	71					0	0	0.000248	0	0
ASCC3	10973	broad.mit.edu	37	6	100960595	100960595	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:100960595C>A	ENST00000369162.2	-	40	6619	c.6275G>T	c.(6274-6276)gGg>gTg	p.G2092V		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	2092					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTGTGGAACCCAAAGTGGAC	0.428000													17	52					1.5739e-10	2.59836e-10	0.004007	1	0
SLITRK3	22865	broad.mit.edu	37	3	164906813	164906813	+	Silent	SNP	C	C	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164906813C>T	ENST00000475390.1	-	2	2249	c.1806G>A	c.(1804-1806)gtG>gtA	p.V602V	SLITRK3_ENST00000241274.3_Silent_p.V602V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	602	LRRCT 2.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAATAGTGCGCACATCACGGT	0.547000										HNSCC(40;0.11)			13	34					0	0	0.001368	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51920552	51920552	+	Missense_Mutation	SNP	T	T	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:51920552T>C	ENST00000353836.5	-	2	426	c.205A>G	c.(205-207)Aag>Gag	p.K69E	SIGLEC10_ENST00000432469.2_Missense_Mutation_p.K69E|SIGLEC10_ENST00000525998.1_Missense_Mutation_p.K69E|SIGLEC10_ENST00000339313.5_Missense_Mutation_p.K69E|SIGLEC10_ENST00000442846.3_Missense_Mutation_p.K69E|SIGLEC10_ENST00000441969.3_Missense_Mutation_p.K69E|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.K69E|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.K69E|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000436984.2_Missense_Mutation_p.K69E	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	69	Ig-like V-type.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAGCACCCTTGGTTGTCTCA	0.592000													19	43					0	0	0.007413	0	0
DCTN1	1639	broad.mit.edu	37	2	74593378	74593378	+	Missense_Mutation	SNP	G	G	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:74593378G>A	ENST00000361874.3	-	23	3070	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	DCTN1_ENST00000409567.3_Missense_Mutation_p.P898L|DCTN1_ENST00000409240.1_Missense_Mutation_p.P881L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000407639.2_Missense_Mutation_p.P784L|DCTN1_ENST00000409438.1_Missense_Mutation_p.P784L|DCTN1_ENST00000409868.1_Missense_Mutation_p.P901L|DCTN1_ENST00000394003.3_Missense_Mutation_p.P911L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	918					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TACCTTGCTGGGGGGCCGCTC	0.562000													31	72					0	0	0.003755	0	0
RASEF	158158	broad.mit.edu	37	9	85615413	85615413	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:85615413C>A	ENST00000376447.3	-	11	1770	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	504					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTAACAGACCCTTGGGGCTTC	0.448000													18	57					3.32936e-07	4.79851e-07	0.006122	1	0
TREX2	11219	broad.mit.edu	37	X	152710395	152710395	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chrX:152710395C>A	ENST00000330912.2	-	13	2044	c.494G>T	c.(493-495)cGg>cTg	p.R165L	TREX2_ENST00000370231.2_Missense_Mutation_p.R165L|TREX2_ENST00000402951.1_Missense_Mutation_p.R208L|TREX2_ENST00000393862.2_Missense_Mutation_p.R165L|TREX2_ENST00000338525.2_Missense_Mutation_p.R165L|TREX2_ENST00000334497.2_Missense_Mutation_p.R208L|TREX2_ENST00000414588.1_Missense_Mutation_p.R207L|TREX2_ENST00000370232.1_Missense_Mutation_p.R208L			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	208					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCGGCCCCGGGCCCGGGT	0.756000								Editing and processing nucleases					3	11					0.004672	0.00542941	0.004672	1	0
EXOC5	10640	broad.mit.edu	37	14	57699436	57699436	+	Missense_Mutation	SNP	C	C	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:57699436C>A	ENST00000413566.2	-	10	1246	c.887G>T	c.(886-888)aGg>aTg	p.R296M	EXOC5_ENST00000340918.7_Missense_Mutation_p.R231M	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	296					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATCGGACTTCCTACATTCTTC	0.254000													14	35					2.48551e-13	4.42517e-13	0.004990	1	0
SI	6476	broad.mit.edu	37	3	164724727	164724727	+	Missense_Mutation	SNP	G	G	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr3:164724727G>T	ENST00000264382.3	-	37	4345	c.4283C>A	c.(4282-4284)aCt>aAt	p.T1428N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1428	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TAATCCATCAGTTCTTTTTGT	0.333000										HNSCC(35;0.089)			11	18					5.50884e-06	7.46571e-06	0.001368	1	0
CDC7	8317	broad.mit.edu	37	1	91979544	91979544	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr1:91979544delG	ENST00000428239.1	+	8	1121	c.862delG	c.(862-864)gafs	p.G288fs	CDC7_ENST00000234626.6_Frame_Shift_Del_p.G288fs|CDC7_ENST00000430031.2_Frame_Shift_Del_p.G260fs	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	288	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		CTCTGTTTTTGGAGAAAGAAA	0.393													14	43	---	---	---	---					
MPHOSPH10	10199	broad.mit.edu	37	2	71360643	71360645	+	In_Frame_Del	DEL	TTT	TTT	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:71360643_71360645delTTT	ENST00000244230.2	+	2	1057_1059	c.705_707delTTT	c.(703-708)gat>ga	p.DF235del	MPHOSPH10_ENST00000498451.2_In_Frame_Del_p.DF235del	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	235					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAGATATTGATTTTTTTGAAGAT	0.340													26	72	---	---	---	---					
RIF1	55183	broad.mit.edu	37	2	152292047	152292048	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:152292047_152292048insT	ENST00000243326.4	+	10	1631_1632	c.1148_1149insT	c.(1147-1149)cgtfs	p.R383fs	RIF1_ENST00000428287.2_Frame_Shift_Ins_p.R383fs|RIF1_ENST00000453091.2_Frame_Shift_Ins_p.R383fs|RIF1_ENST00000444746.2_Frame_Shift_Ins_p.R383fs|RIF1_ENST00000430328.2_Frame_Shift_Ins_p.R383fs|RIF1_ENST00000433166.2_Intron			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	383					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AATTCGTGTCATGTAGCTACAT	0.376													44	140	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179554591	179554591	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:179554591delC	ENST00000589042.1	-	122	32019	c.31795delG	c.(31795-31797)aafs	p.E10599fs	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.E10282fs|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Frame_Shift_Del_p.E9355fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10282	Glu-rich.|Pro-rich.						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)			GGAATCTTTTCTTCAGGGACA	0.393													72	214	---	---	---	---					
WDR75	84128	broad.mit.edu	37	2	190340074	190340074	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr2:190340074delG	ENST00000314761.4	+	21	2484	c.2424delG	c.(2422-2424)ttfs	p.L808fs		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	808						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TACATCAGTTGTCAAAATCTG	0.363													19	46	---	---	---	---					
KCTD8	386617	broad.mit.edu	37	4	44177021	44177021	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:44177021delG	ENST00000360029.3	-	2	1491	c.1208delC	c.(1207-1209)cafs	p.P404fs		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	404						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTTGTCTGGTGGGGGTATCCA	0.483										HNSCC(17;0.042)			44	294	---	---	---	---					
EPHA5	2044	broad.mit.edu	37	4	66467435	66467435	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr4:66467435delG	ENST00000273854.3	-	3	1434	c.834delC	c.(832-834)gcfs	p.A278fs	EPHA5_ENST00000354839.4_Frame_Shift_Del_p.A278fs|EPHA5_ENST00000432638.2_Frame_Shift_Del_p.A278fs|EPHA5_ENST00000511294.1_Frame_Shift_Del_p.A278fs	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	278	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACTCCCCTTCGGCGCTGCAGT	0.522										TSP Lung(17;0.13)			9	65	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33546184	33546184	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33546184delC	ENST00000504830.1	-	22	4761	c.4426delG	c.(4426-4428)ccfs	p.A1476fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.A1391fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1476	TSP type-1 8.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTCCCAGTGGCCCAGTGACAG	0.438										HNSCC(64;0.19)			7	88	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33561259	33561260	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:33561259_33561260insT	ENST00000504830.1	-	20	4332_4333	c.3997_3998insA	c.(3997-3999)ctafs	p.L1333fs	ADAMTS12_ENST00000352040.3_Frame_Shift_Ins_p.L1248fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1333	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTCCAGTAGGCCCCCAGGCCA	0.584										HNSCC(64;0.19)			14	80	---	---	---	---					
SPEF2	79925	broad.mit.edu	37	5	35709195	35709196	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:35709195_35709196insC	ENST00000440995.2	+	19	2796_2797	c.2796_2797insC	c.(2794-2799)acctacfs	p.Y933fs	SPEF2_ENST00000509059.1_Frame_Shift_Ins_p.Y933fs|SPEF2_ENST00000356031.3_Frame_Shift_Ins_p.Y938fs|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	938					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTCAAAAACTCCTACTGCAAA	0.386													18	118	---	---	---	---					
HTR1A	3350	broad.mit.edu	37	5	63257309	63257309	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:63257309delC	ENST00000323865.3	-	1	471	c.238delG	c.(238-240)tcfs	p.V80fs	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	80					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGGTCGGTGACCGCCAAAGAG	0.597													8	15	---	---	---	---					
DRD1	1812	broad.mit.edu	37	5	174869076	174869076	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr5:174869076delT	ENST00000393752.2	-	2	2019	c.1027delA	c.(1027-1029)ccfs	p.T343fs		NM_000794.3	NP_000785.1	P21728	DRD1_HUMAN	dopamine receptor D1	343					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	CCTAAGAGGGTTGAAAATGCC	0.453													35	52	---	---	---	---					
SIM1	6492	broad.mit.edu	37	6	100838281	100838281	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:100838281delG	ENST00000369208.3	-	12	3039	c.2257delC	c.(2257-2259)aafs	p.Q753fs	SIM1_ENST00000262901.4_Frame_Shift_Del_p.Q753fs			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	753	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TTGTGTCCTTGTGCTGGGTCT	0.383													32	110	---	---	---	---					
C6orf118	168090	broad.mit.edu	37	6	165711542	165711542	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr6:165711542delC	ENST00000543069.1	-	5	1254	c.673delG	c.(673-675)cgfs	p.A225fs	C6orf118_ENST00000230301.8_Frame_Shift_Del_p.A329fs			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	329										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCATGTCCGCCGTCTTCACC	0.602													15	49	---	---	---	---					
DLX5	1749	broad.mit.edu	37	7	96653778	96653778	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:96653778delC	ENST00000222598.4	-	1	631	c.158delG	c.(157-159)gafs	p.G53fs	DLX5_ENST00000493764.1_5'UTR|DLX5_ENST00000486603.2_Frame_Shift_Del_p.G53fs	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	53					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GTGCGGGGCTCCCCCCGTAGG	0.602													14	62	---	---	---	---					
ATXN7L1	222255	broad.mit.edu	37	7	105254802	105254804	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr7:105254802_105254804delGAG	ENST00000419735.3	-	10	2022_2024	c.1977_1979delCTC	c.(1975-1980)tct>tc	p.SS659del	ATXN7L1_ENST00000388807.4_In_Frame_Del_p.SS319del|ATXN7L1_ENST00000477775.1_In_Frame_Del_p.SS535del	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	659	Ser-rich.									endometrium(1)|large_intestine(4)|lung(5)	10						CTGCAaggaagaggaggaggagg	0.517													2	4	---	---	---	---					
POP1	10940	broad.mit.edu	37	8	99146751	99146751	+	Frame_Shift_Del	DEL	T	T	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:99146751delT	ENST00000401707.2	+	7	956	c.875delT	c.(874-876)ctfs	p.L292fs	POP1_ENST00000349693.3_Frame_Shift_Del_p.L292fs	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	292					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CAAGGGAGCCTTGTGCTTTAT	0.502													19	68	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			9	127	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18906757	18906758	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:18906757_18906758insT	ENST00000380548.4	+	28	5368_5369	c.5029_5030insT	c.(5029-5031)gtgfs	p.V1677fs	ADAMTSL1_ENST00000380545.5_Frame_Shift_Ins_p.V378fs	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1677	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTGTGGACCCTGTGCACAGCT	0.614													10	15	---	---	---	---					
TMEM2	23670	broad.mit.edu	37	9	74324265	74324266	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr9:74324265_74324266delCA	ENST00000377044.4	-	17	3433_3434	c.2894_2895delTG	c.(2893-2895)gfs	p.V965fs	TMEM2_ENST00000377066.5_Frame_Shift_Del_p.V902fs	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	965						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCATTCTTCCCACATAAGCATC	0.465													9	89	---	---	---	---					
ADARB2	105	broad.mit.edu	37	10	1405671	1405671	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:1405671delG	ENST00000381312.1	-	3	954	c.629delC	c.(628-630)agfs	p.T210fs		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	210			T -> M (in a colorectal cancer sample; somatic mutation).		mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.T210M(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GGTGAAGTCCGTgccggggcc	0.751													2	4	---	---	---	---					
CDHR1	92211	broad.mit.edu	37	10	85974197	85974197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr10:85974197delG	ENST00000372117.3	+	17	2503	c.2400delG	c.(2398-2400)gtfs	p.V800fs	CDHR1_ENST00000440770.2_Frame_Shift_Del_p.V504fs|CDHR1_ENST00000332904.3_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	800	Pro-rich.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCCAGCGTGGCGCCCAGCA	0.597													37	91	---	---	---	---					
DENND5A	23258	broad.mit.edu	37	11	9163520	9163520	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:9163520delC	ENST00000328194.3	-	22	3967	c.3647delG	c.(3646-3648)gcfs	p.G1216fs	DENND5A_ENST00000527700.1_Frame_Shift_Del_p.G559fs|DENND5A_ENST00000530044.1_Splice_Site	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1216	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGAAACTTGCCATCCTTGCC	0.552													12	40	---	---	---	---					
OR8I2	120586	broad.mit.edu	37	11	55861592	55861592	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:55861592delC	ENST00000302124.2	+	1	840	c.809delC	c.(808-810)ggfs	p.A270fs	OR8I2_ENST00000560768.1_3'UTR			Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGACCCAGGCGCAGGTGGCA	0.453													22	110	---	---	---	---					
FOLH1B	219595	broad.mit.edu	37	11	89407164	89407165	+	RNA	INS	-	-	T	rs72449667		TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:89407164_89407165insT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCATCAATGACTTTTTTTTTTT	0.302													4	4	---	---	---	---					
SORL1	6653	broad.mit.edu	37	11	121429484	121429484	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr11:121429484delG	ENST00000260197.7	+	20	2977	c.2848delG	c.(2848-2850)gcfs	p.G950fs		NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	950					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CACGTTCAGTGGCCAGCAGCG	0.552													19	66	---	---	---	---					
GDF3	9573	broad.mit.edu	37	12	7848269	7848269	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:7848269delC	ENST00000329913.3	-	1	103	c.56delG	c.(55-57)gcfs	p.G19fs		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	19					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GACTGCCTGGCCCAAAGCCAG	0.498													8	50	---	---	---	---					
RP11-443N24.2	0	broad.mit.edu	37	12	25956249	25956249	+	RNA	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:25956249delG	ENST00000536949.1	-	0	91																											CGGAGAACGCGGGCAGCTACT	0.552													20	76	---	---	---	---					
SCN8A	6334	broad.mit.edu	37	12	52093524	52093525	+	Frame_Shift_Ins	INS	-	-	T			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr12:52093524_52093525insT	ENST00000354534.5	+	7	1055_1056	c.877_878insT	c.(877-879)tgafs	p.*293fs	SCN8A_ENST00000550891.1_Frame_Shift_Ins_p.*293fs|SCN8A_ENST00000545061.1_Frame_Shift_Ins_p.*293fs	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	293					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)	CGAGAGCTATCTTGAAAATGGC	0.436													9	25	---	---	---	---					
NAA16	79612	broad.mit.edu	37	13	41933096	41933097	+	Frame_Shift_Ins	INS	-	-	G			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:41933096_41933097insG	ENST00000379406.3	+	12	1732_1733	c.1408_1409insG	c.(1408-1410)ggafs	p.G470fs	NAA16_ENST00000379367.3_Frame_Shift_Ins_p.G470fs	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	470					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.R470M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CAAGTTCACAAGGGTAGGAAAT	0.356													33	94	---	---	---	---					
EDNRB	1910	broad.mit.edu	37	13	78492477	78492477	+	Frame_Shift_Del	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr13:78492477delC	ENST00000377211.4	-	2	654	c.502delG	c.(502-504)cafs	p.A168fs	EDNRB_ENST00000334286.5_Frame_Shift_Del_p.A78fs|EDNRB_ENST00000446573.1_Frame_Shift_Del_p.A78fs|EDNRB_ENST00000475537.1_5'UTR	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	78					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GGAGATCCTGCCGTCCTGTCT	0.582													16	71	---	---	---	---					
PRKCH	5583	broad.mit.edu	37	14	62016430	62016430	+	Frame_Shift_Del	DEL	G	G	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:62016430delG	ENST00000332981.5	+	14	2318	c.1933delG	c.(1933-1935)acfs	p.D645fs	PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Frame_Shift_Del_p.D484fs|RP11-47I22.4_ENST00000556347.1_Intron	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	645	AGC-kinase C-terminal.		D -> V (in dbSNP:rs35561533).		intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGTAATTTTGACCCTGACTT	0.398													31	81	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93719992	93719992	+	Splice_Site	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr14:93719992delC	ENST00000334746.5	-	7	2060		c.e7+1		BTBD7_ENST00000554565.1_Splice_Site|BTBD7_ENST00000393170.2_Splice_Site	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7											breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GTTTTCATTACCTTTGCTTCT	0.373													30	77	---	---	---	---					
SGCA	6442	broad.mit.edu	37	17	48245032	48245033	+	Frame_Shift_Ins	INS	-	-	A			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr17:48245032_48245033insA	ENST00000262018.3	+	3	283_284	c.247_248insA	c.(247-249)ccafs	p.P83fs	SGCA_ENST00000451235.2_Intron|SGCA_ENST00000344627.6_Frame_Shift_Ins_p.P83fs|SGCA_ENST00000543315.1_Frame_Shift_Ins_p.P83fs|SGCA_ENST00000513942.1_Intron	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	83					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCAGCGCAGCCCCCACCACCCT	0.658													7	29	---	---	---	---					
SERPINB11	89778	broad.mit.edu	37	18	61390628	61390628	+	RNA	DEL	C	C	-			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr18:61390628delC	ENST00000544088.1	+	0	1236				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCTTGCCTCTCCCTAATCAGA	0.498													20	78	---	---	---	---					
CAPN12	147968	broad.mit.edu	37	19	39227940	39227941	+	Frame_Shift_Ins	INS	-	-	C			TCGA-86-6851-01A-11D-1945-08	TCGA-86-6851-10A-01D-1946-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5a79ea9-4b65-4e69-bed1-79919e2639d7	4b0090ac-8a7d-463b-a3be-c2cb6f0ac7dc	g.chr19:39227940_39227941insC	ENST00000328867.4	-	10	1525_1526	c.1217_1218insG	c.(1216-1218)gtgfs	p.V406fs	CAPN12_ENST00000601953.1_Frame_Shift_Ins_p.V257fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	406	Domain III.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGCCCCCCAGCCCCCCCAGGG	0.673													2	4	---	---	---	---