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
MAGEC2	51438	broad.mit.edu	37	X	141290915	141290915	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:141290915G>A	ENST00000247452.3	-	3	1206	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	287	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGCACCTCCCGATACTCCAGG	0.502000										HNSCC(46;0.14)			7	36					0	0	0.000157383	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619195	64619195	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:64619195G>A	ENST00000498707.1	-	14	2470	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P682S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	710	Cys-rich.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCCACAAGGAGTTCCATCT	0.507000													7	303					0	0	8.12818e-05	0	0
CASP9	842	broad.mit.edu	37	1	15819471	15819471	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:15819471G>A	ENST00000333868.5	-	9	1312	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	CASP9_ENST00000348549.5_Silent_p.F256F|CASP9_ENST00000546424.1_3'UTR|CASP9_ENST00000375890.4_Silent_p.F323F	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	406					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TTTTCCGGAGGAAATTAAAGC	0.473000													6	152					0	0	0.000157383	0	0
ROS1	6098	broad.mit.edu	37	6	117686846	117686846	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:117686846C>T	ENST00000368508.3	-	19	3069	c.2871G>A	c.(2869-2871)agG>agA	p.R957R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Silent_p.R952R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	957	Fibronectin type-III 4.				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)		TTCCTTCAATCCTAAATGAAG	0.383000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	31					0	0	0.000602214	0	0
RPS6KA4	8986	broad.mit.edu	37	11	64128627	64128627	+	Silent	SNP	C	C	T	rs149154456		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:64128627C>T	ENST00000528057.1	+	5	572	c.484C>T	c.(484-486)Ctg>Ttg	p.L162L	RPS6KA4_ENST00000294261.4_Silent_p.L162L|RPS6KA4_ENST00000334205.4_Silent_p.L162L	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	162	Protein kinase 1.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						TTACCGAGACCTGAAACTGGA	0.612000													4	38					0	0	0.000602214	0	0
ACTB	60	broad.mit.edu	37	7	5567493	5567493	+	Silent	SNP	G	G	A	rs1064790		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:5567493G>A	ENST00000331789.5	-	6	1205	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	338					'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)		CGATCCACACGGAGTACTTGC	0.617000													5	61					0	0	8.12818e-05	0	0
SCRN1	9805	broad.mit.edu	37	7	29980462	29980462	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:29980462G>A	ENST00000426154.1	-	5	751	c.575C>T	c.(574-576)tCg>tTg	p.S192L	SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000409497.1_Missense_Mutation_p.S192L|SCRN1_ENST00000242059.5_Missense_Mutation_p.S192L	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	192					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						AGTGGTGAGCGAAAGCTGACT	0.458000													7	141					0	0	0.000274275	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113181719	113181719	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr13:113181719G>A	ENST00000261965.3	-	12	1601	c.1415C>T	c.(1414-1416)cCt>cTt	p.P472L	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Missense_Mutation_p.P472L	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	472					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CATAAACGAAGGAATCATCGA	0.368000													7	134					0	0	0.000442599	0	0
OR4D9	390199	broad.mit.edu	37	11	59282476	59282476	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:59282476C>T	ENST00000329328.3	+	1	91	c.91C>T	c.(91-93)Ctg>Ttg	p.L31L		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						ATTTACCTTCCTGTTTTTGGT	0.433000													6	123					0	0	8.12818e-05	0	0
BCHE	590	broad.mit.edu	37	3	165548644	165548644	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:165548644G>A	ENST00000264381.3	-	2	344	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	60					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TGTGCATAGGGAATTCCAAGA	0.413000													5	48					0	0	0.000602214	0	0
ARHGEF25	115557	broad.mit.edu	37	12	58010635	58010635	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:58010635C>T	ENST00000286494.4	+	15	2161	c.1701C>T	c.(1699-1701)ccC>ccT	p.P567P	AC025165.8_ENST00000444467.1_RNA|AC025165.8_ENST00000356672.3_RNA|ARHGEF25_ENST00000333972.7_Silent_p.P606P|AC025165.8_ENST00000593846.1_RNA|ARHGEF25_ENST00000477314.1_3'UTR	NM_182947.3	NP_891992.2	Q86VW2	ARHGP_HUMAN	Rho guanine nucleotide exchange factor (GEF) 25	567					regulation of Rho protein signal transduction	cytosol|plasma membrane|sarcomere	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	28						AAACCCCTCCCTGCCAAGCCA	0.537000													10	129					0	0	0.000673444	0	0
FLT1	2321	broad.mit.edu	37	13	29041198	29041198	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr13:29041198G>A	ENST00000282397.4	-	3	481	c.230C>T	c.(229-231)aCt>aTt	p.T77I	FLT1_ENST00000539099.1_Missense_Mutation_p.T77I|FLT1_ENST00000541932.1_Missense_Mutation_p.T77I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	77	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GGCAGATTTAGTTATGCTCAG	0.418000													7	159					0	0	8.12818e-05	0	0
APOB	338	broad.mit.edu	37	2	21234360	21234360	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:21234360C>T	ENST00000233242.1	-	26	5507	c.5380G>A	c.(5380-5382)Gta>Ata	p.V1794I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1794					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)	AAAGTAGTTACCAGAGAATAG	0.413000													23	671					0	0	0.000720815	0	0
NEU1	4758	broad.mit.edu	37	6	31829867	31829867	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:31829867C>T	ENST00000375631.4	-	2	390	c.261G>A	c.(259-261)cgG>cgA	p.R87R		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	87						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GAAGAGTGCCCCGCGGAGTGG	0.607000													7	152					0	0	0.000157383	0	0
LAMB4	22798	broad.mit.edu	37	7	107671290	107671290	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:107671290C>T	ENST00000388781.3	-	32	5036	c.4953G>A	c.(4951-4953)caG>caA	p.Q1651Q	LAMB4_ENST00000205386.4_Silent_p.Q1651Q|LAMB4_ENST00000388780.3_Silent_p.Q1651Q|LAMB4_ENST00000483484.1_Intron	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1651	Domain I.				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						CAGATTCAGCCTGAACTTTCG	0.507000													15	132					0	0	0.000308642	0	0
VGLL1	51442	broad.mit.edu	37	X	135618348	135618348	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:135618348G>A	ENST00000370634.3	+	2	339	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_016267.3	NP_057351.1	Q99990	VGLL1_HUMAN	vestigial like 1 (Drosophila)	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	transcription coactivator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;0.000127)					GAGCCCCCAGGAATTGACCCC	0.537000													4	28					0	0	0.00116845	0	0
CC2D1B	200014	broad.mit.edu	37	1	52825464	52825464	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:52825464G>A	ENST00000371586.2	-	8	993	c.855C>T	c.(853-855)tcC>tcT	p.S285S	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Silent_p.S285S	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	285										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTCTGTCGGGATGACAGCA	0.597000													4	9					0	0	0.00024832	0	0
LMTK2	22853	broad.mit.edu	37	7	97822165	97822165	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:97822165C>T	ENST00000297293.5	+	11	2681	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	796					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)					ATACAGATGTCATGCTCACAG	0.483000													7	120					0	0	8.12818e-05	0	0
OR6V1	346517	broad.mit.edu	37	7	142750156	142750156	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:142750156G>A	ENST00000418316.1	+	1	740	c.719G>A	c.(718-720)gGg>gAg	p.G240E		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TCCACTTGCGGGTCTCACCTC	0.557000													5	96					0	0	0.00116845	0	0
OR5K1	26339	broad.mit.edu	37	3	98188672	98188672	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:98188672C>T	ENST00000332650.5	+	1	349	c.252C>T	c.(250-252)aaC>aaT	p.N84N		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTTAGAGAACTTCTTTTCTG	0.433000													11	180					0	0	0.000673444	0	0
TRHDE	29953	broad.mit.edu	37	12	72866880	72866880	+	Missense_Mutation	SNP	G	G	A	rs147826771		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:72866880G>A	ENST00000261180.4	+	5	1465	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	457					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGTGTGGTGGGAAGACGTGTG	0.393000													8	224					0	0	0.000274275	0	0
OR2L2	26246	broad.mit.edu	37	1	248201688	248201688	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:248201688G>A	ENST00000366479.2	+	1	215	c.119G>A	c.(118-120)gGa>gAa	p.G40E	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCTCTAATTGGAAATCTATCC	0.383000													6	222					0	0	0.00116845	0	0
BCKDHB	594	broad.mit.edu	37	6	80838930	80838930	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:80838930C>T	ENST00000545529.1	+	3	355	c.327C>T	c.(325-327)ggC>ggT	p.G109G	BCKDHB_ENST00000320393.6_Silent_p.G109G|BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000356489.5_Silent_p.G109G|BCKDHB_ENST00000369760.4_Silent_p.G109G			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	109					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GCACTGTTGGCTTGCGAGACA	0.264000													7	182					0	0	0.000442599	0	0
SVEP1	79987	broad.mit.edu	37	9	113312239	113312239	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:113312239C>T	ENST00000401783.2	-	2	1013	c.677G>A	c.(676-678)gGg>gAg	p.G226E	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G226E|SVEP1_ENST00000374461.1_Missense_Mutation_p.G203E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G203E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	226	VWFA.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCGAATGTTCCCTTGCCATAT	0.498000													4	46					0	0	0.00024832	0	0
SLC1A2	6506	broad.mit.edu	37	11	35333982	35333982	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:35333982C>T	ENST00000278379.3	-	4	606	c.324G>A	c.(322-324)ctG>ctA	p.L108L	SLC1A2_ENST00000395750.1_Silent_p.L99L|SLC1A2_ENST00000606205.1_Silent_p.L108L|SLC1A2_ENST00000395753.1_Silent_p.L99L	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	108					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CCTTAGCATCCAGGCCTGACA	0.463000													6	50					0	0	8.12818e-05	0	0
ZNF860	344787	broad.mit.edu	37	3	32031038	32031038	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:32031038G>A	ENST00000360311.4	+	2	1016	c.467G>A	c.(466-468)gGa>gAa	p.G156E		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GATCAGCTTGGATTAAGCTTT	0.413000													5	76					0	0	0.00116845	0	0
STXBP5L	9515	broad.mit.edu	37	3	120764363	120764363	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:120764363C>T	ENST00000273666.6	+	5	722	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F	STXBP5L_ENST00000497029.1_Missense_Mutation_p.L151F|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L151F|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L151F|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L151F	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	151					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ACTCCATTCTCTTAAATTTAA	0.358000													9	228					0	0	0.000673444	0	0
CC2D1B	200014	broad.mit.edu	37	1	52825463	52825463	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:52825463G>A	ENST00000371586.2	-	8	994	c.856C>T	c.(856-858)Cga>Tga	p.R286*	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Nonsense_Mutation_p.R286*	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	286										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TCTCTCTGTCGGGATGACAGC	0.602000													4	9					0	0	0.00024832	0	0
SYNE1	23345	broad.mit.edu	37	6	152476160	152476160	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:152476160C>T	ENST00000367255.5	-	133	24597	c.23996G>A	c.(23995-23997)cGa>cAa	p.R7999Q	SYNE1_ENST00000423061.1_Missense_Mutation_p.R7928Q|SYNE1_ENST00000539504.1_Missense_Mutation_p.R154Q|SYNE1_ENST00000354674.4_Missense_Mutation_p.R154Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R7999Q|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7611Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R7928Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2523Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7999					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)		CTGCCACAATCGCCACGTCTC	0.473000										HNSCC(10;0.0054)			8	126					0	0	0.000673444	0	0
ADAM30	11085	broad.mit.edu	37	1	120438381	120438381	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:120438381C>T	ENST00000369400.1	-	1	737	c.579G>A	c.(577-579)agG>agA	p.R193R		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	193					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)		CAGGAAAGTCCCTTAGCCTCG	0.408000													11	617					0	0	0.00136819	0	0
FBXO43	286151	broad.mit.edu	37	8	101153416	101153416	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:101153416G>A	ENST00000428847.2	-	2	1382	c.1066C>T	c.(1066-1068)Caa>Taa	p.Q356*		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	356					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTAGTTCTTGAAAAGAACCC	0.463000													8	128					0	0	0.000442599	0	0
FLG	2312	broad.mit.edu	37	1	152285533	152285533	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:152285533C>T	ENST00000368799.1	-	3	1864	c.1829G>A	c.(1828-1830)gGg>gAg	p.G610E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	610	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGGGCCCCGATGATTG	0.572000									Ichthyosis				9	170					0	0	0.000442599	0	0
PRKAG3	53632	broad.mit.edu	37	2	219696074	219696074	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:219696074C>T	ENST00000529249.1	-	2	373	c.58G>A	c.(58-60)Ggt>Agt	p.G20S	PRKAG3_ENST00000392098.3_Missense_Mutation_p.G20S|PRKAG3_ENST00000439262.2_5'UTR|PRKAG3_ENST00000545803.1_5'UTR			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	20					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTCAGAACCCCCAAGGCTG	0.587000													3	7					0	0	6.4e-05	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295218	120295218	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:120295218C>T	ENST00000369406.3	-	8	1423	c.1374G>A	c.(1372-1374)gaG>gaA	p.E458E	HMGCS2_ENST00000544913.2_Silent_p.E416E	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	458					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		CTGTGAACTCCTCAGGAGACA	0.488000													9	442					0	0	0.000673444	0	0
ABCC8	6833	broad.mit.edu	37	11	17482096	17482096	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:17482096G>A	ENST00000302539.4	-	6	1075	c.950C>T	c.(949-951)cCa>cTa	p.P317L	ABCC8_ENST00000389817.3_Missense_Mutation_p.P317L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	317	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GATGCACAGTGGCCCGGCGAA	0.642000													11	198					0	0	0.000978159	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617408	77617408	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:77617408G>A	ENST00000521891.2	+	2	1533	c.1085G>A	c.(1084-1086)gGt>gAt	p.G362D	ZFHX4_ENST00000455469.2_Missense_Mutation_p.G362D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G362D|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Missense_Mutation_p.G362D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	362						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCTTCCGCGGTTTATGGAGC	0.468000										HNSCC(33;0.089)			7	84					0	0	0.000157383	0	0
KLHL42	57542	broad.mit.edu	37	12	27944754	27944754	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:27944754C>T	ENST00000381271.2	+	2	1297	c.986C>T	c.(985-987)cCc>cTc	p.P329L		NM_020782.1	NP_065833.1			kelch-like family member 42																		TTTGTGGCGCCCTTACCCAAT	0.488000													8	197					0	0	0.000442599	0	0
RYR3	6263	broad.mit.edu	37	15	34111986	34111986	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:34111986C>T	ENST00000389232.4	+	77	10806	c.10736C>T	c.(10735-10737)tCc>tTc	p.S3579F	RYR3_ENST00000415757.3_Missense_Mutation_p.S3574F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3579					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGTACACCTCCTATTCCAGC	0.353000													10	399					0	0	0.000566183	0	0
SUCNR1	56670	broad.mit.edu	37	3	151598433	151598433	+	Silent	SNP	C	C	T	rs145165680		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:151598433C>T	ENST00000362032.4	+	3	207	c.102C>T	c.(100-102)ttC>ttT	p.F34F	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1	34						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGATTGAGTTCGTTGTGGGAG	0.423000													10	185					0	0	0.00185496	0	0
CHD6	84181	broad.mit.edu	37	20	40141535	40141535	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:40141535C>T	ENST00000373233.3	-	5	979	c.802G>A	c.(802-804)Gct>Act	p.A268T	CHD6_ENST00000373222.3_Missense_Mutation_p.A303T|CHD6_ENST00000309279.7_Missense_Mutation_p.A268T	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	268					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GTTCGACCAGCTCCAAGAACA	0.512000													9	252					0	0	0.00136819	0	0
MYRF	745	broad.mit.edu	37	11	61539208	61539208	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:61539208G>A	ENST00000278836.5	+	6	1073	c.977G>A	c.(976-978)gGt>gAt	p.G326D	TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.G317D	NM_001127392.1	NP_001120864.1			myelin regulatory factor																		CACCCGCCAGGTGCCCCCTCC	0.692000													6	62					0	0	0.000157383	0	0
MYT1L	23040	broad.mit.edu	37	2	1926775	1926775	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:1926775C>T	ENST00000399161.2	-	10	1513	c.766G>A	c.(766-768)Gat>Aat	p.D256N	MYT1L_ENST00000428368.2_Missense_Mutation_p.D256N	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	256					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CTAACAACATCACTGTCTAAG	0.413000													7	128					0	0	8.12818e-05	0	0
ZG16B	124220	broad.mit.edu	37	16	2880751	2880751	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:2880751G>A	ENST00000382280.3	+	3	296	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	ZG16B_ENST00000572863.1_Missense_Mutation_p.E43K	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	73						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						CTACGACCATGAAATCACAGG	0.537000													8	125					0	0	0.000274275	0	0
NANP	140838	broad.mit.edu	37	20	25597014	25597014	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:25597014G>A	ENST00000304788.3	-	2	520	c.294C>T	c.(292-294)ttC>ttT	p.F98F		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	98					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						ATTTCCAAAGGAAATAACATT	0.403000													5	75					0	0	0.000602214	0	0
COG5	10466	broad.mit.edu	37	7	107053028	107053028	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:107053028A>C	ENST00000393603.2	-	7	952	c.681T>G	c.(679-681)aaT>aaG	p.N227K	COG5_ENST00000297135.3_Missense_Mutation_p.N227K|COG5_ENST00000347053.3_Missense_Mutation_p.N227K|COG5_ENST00000475638.2_5'UTR	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	227					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						AAAGTAGATCATTTTCTATCA	0.323000													4	73					0	0	0.00024832	0	0
ALAD	210	broad.mit.edu	37	9	116153101	116153101	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:116153101G>A	ENST00000409155.3	-	5	570	c.374C>T	c.(373-375)cCc>cTc	p.P125L	ALAD_ENST00000277315.5_Missense_Mutation_p.P108L	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	125					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GGAGGTGTAGGGACACAGGCA	0.612000													6	20					0	0	0.00116845	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077842	19077842	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:19077842C>T	ENST00000329773.2	-	2	195	c.108G>A	c.(106-108)ctG>ctA	p.L36L		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	36					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TGAAAAGGATCAGGAAGACCG	0.562000													8	127					0	0	0.000157383	0	0
FRK	2444	broad.mit.edu	37	6	116289788	116289788	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:116289788G>A	ENST00000606080.1	-	3	1027	c.581C>T	c.(580-582)aCc>aTc	p.T194I	FRK_ENST00000538210.1_Missense_Mutation_p.T52I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	194	SH2.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		ACTTGTCTTGGTGTAGTGGCT	0.388000													7	182					0	0	0.000274275	0	0
SUPT6H	6830	broad.mit.edu	37	17	27028564	27028564	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:27028564C>T	ENST00000314616.6	+	37	5385	c.5102C>T	c.(5101-5103)tCc>tTc	p.S1701F	SUPT6H_ENST00000347486.4_Missense_Mutation_p.S1701F	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1701					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCTCGGCCCTCCCCCAGCCCC	0.627000													4	50					0	0	0.00024832	0	0
EMR1	2015	broad.mit.edu	37	19	6901965	6901965	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr19:6901965C>T	ENST00000312053.4	+	6	631	c.594C>T	c.(592-594)ttC>ttT	p.F198F	EMR1_ENST00000601198.1_3'UTR|EMR1_ENST00000381404.4_Silent_p.F146F|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000250572.8_Silent_p.F198F|EMR1_ENST00000381407.5_Intron	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	198	EGF-like 4; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACTCTTGTTTCTGCAACCCAG	0.483000													6	185					0	0	0.000442599	0	0
KCNH7	90134	broad.mit.edu	37	2	163374572	163374572	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:163374572G>A	ENST00000332142.5	-	4	659	c.560C>T	c.(559-561)tCa>tTa	p.S187L	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.S187L	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	187					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GTGTTTAGATGAATCGATGAC	0.423000													9	101					0	0	0.000673444	0	0
ABCG5	64240	broad.mit.edu	37	2	44055247	44055247	+	Missense_Mutation	SNP	G	G	A	rs145505499		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:44055247G>A	ENST00000405322.1	-	4	1162	c.266C>T	c.(265-267)gCc>gTc	p.A89V	ABCG5_ENST00000260645.1_Missense_Mutation_p.A170V|ABCG5_ENST00000543989.1_5'UTR			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	170	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCCATGACGGCCTCCACCTG	0.582000													7	163					0	0	0.000157383	0	0
TNFSF8	944	broad.mit.edu	37	9	117692442	117692442	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:117692442G>A	ENST00000223795.2	-	1	255	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	48					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						ACAAGGCACAGAGCCAGAGTG	0.567000													6	79					0	0	0.00116845	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102494084	102494084	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr14:102494084C>T	ENST00000360184.4	+	47	9341	c.9177C>T	c.(9175-9177)atC>atT	p.I3059I		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3059	AAA 4 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCAGGTTATCCGCAACCTCC	0.567000													5	85					0	0	0.00116845	0	0
HMGCS2	3158	broad.mit.edu	37	1	120295223	120295223	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:120295223G>A	ENST00000369406.3	-	8	1418	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	HMGCS2_ENST00000544913.2_Missense_Mutation_p.P415S	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	457					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		AACTCCTCAGGAGACACACAC	0.478000													10	441					0	0	0.00136819	0	0
RFPL3	10738	broad.mit.edu	37	22	32756308	32756308	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:32756308G>A	ENST00000249007.4	+	2	648	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	RFPL3_ENST00000382088.3_Missense_Mutation_p.R119Q|RFPL3_ENST00000397468.1_Missense_Mutation_p.R119Q|RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	148	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						AGGAGCGTCCGAAGTGGGCTC	0.537000													10	66					0	0	0.00136819	0	0
HCAR3	8843	broad.mit.edu	37	12	123200861	123200861	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:123200861A>G	ENST00000528880.2	-	1	578	c.424T>C	c.(424-426)Tgg>Cgg	p.W142R	HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	142						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	GCTGCTGTCCAATTGGAGATC	0.542000													4	56					0	0	0.00024832	0	0
ST7	7982	broad.mit.edu	37	7	116862957	116862957	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:116862957T>C	ENST00000265437.5	+	16	1895	c.1681T>C	c.(1681-1683)Tgc>Cgc	p.C561R	ST7_ENST00000432298.1_Intron|ST7_ENST00000393444.3_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000422922.1_Intron|ST7_ENST00000393449.1_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000323984.3_Intron	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	561						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGACTGGAATTGCAAGAGTAT	0.448000													9	104					0	0	0.000978159	0	0
ACACB	32	broad.mit.edu	37	12	109650724	109650724	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:109650724C>T	ENST00000338432.7	+	22	3452	c.3333C>T	c.(3331-3333)atC>atT	p.I1111I	ACACB_ENST00000377854.5_Silent_p.I1111I|ACACB_ENST00000377848.3_Silent_p.I1111I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1111					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCAGAGCATCGTGCAGTTGG	0.572000													8	75					0	0	0.000442599	0	0
HSPA1L	3305	broad.mit.edu	37	6	31779338	31779338	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:31779338C>T	ENST00000375654.4	-	2	601	c.412G>A	c.(412-414)Ggc>Agc	p.G138S	HSPA1L_ENST00000417199.3_Missense_Mutation_p.G138S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	138					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACAGGGTGGCCCAAAAAGGCC	0.468000													15	358					0	0	0.000219431	0	0
KDR	3791	broad.mit.edu	37	4	55960994	55960994	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:55960994G>A	ENST00000263923.4	-	21	3241	c.2946C>T	c.(2944-2946)tcC>tcT	p.S982S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	982	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CATCACTGAGGGACTTCTCCT	0.517000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			6	117					0	0	0.00116845	0	0
FAT3	120114	broad.mit.edu	37	11	92086330	92086330	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:92086330G>A	ENST00000298047.6	+	1	1069	c.1052G>A	c.(1051-1053)gGa>gAa	p.G351E	FAT3_ENST00000541502.1_Missense_Mutation_p.G351E|FAT3_ENST00000525166.1_Missense_Mutation_p.G201E|FAT3_ENST00000409404.2_Missense_Mutation_p.G351E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	351	Cadherin 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)				AAAGACAAGGGATCTCCTCAA	0.433000										TCGA Ovarian(4;0.039)			17	354					0	0	0.000958276	0	0
SCG2	7857	broad.mit.edu	37	2	224462455	224462455	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:224462455G>A	ENST00000305409.2	-	2	1778	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	516					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)		ATGATCTCAGGGTATTTAACT	0.433000													5	73					0	0	0.000602214	0	0
EPHB1	2047	broad.mit.edu	37	3	134670867	134670867	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:134670867G>A	ENST00000398015.3	+	3	1148	c.778G>A	c.(778-780)Gag>Aag	p.E260K	EPHB1_ENST00000488154.1_Intron	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	260	Cys-rich.					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						GCCTGGCTATGAGCCTGAGAA	0.562000													8	139					0	0	0.000274275	0	0
APBB1IP	54518	broad.mit.edu	37	10	26800700	26800700	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:26800700G>A	ENST00000376236.4	+	7	1011	c.556G>A	c.(556-558)Gat>Aat	p.D186N		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	186	Ras-associating.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						GCACATGAATGATAACAGCAC	0.478000													6	73					0	0	0.000157383	0	0
RP1	6101	broad.mit.edu	37	8	55537629	55537629	+	Missense_Mutation	SNP	G	G	A	rs141279458	byFrequency	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:55537629G>A	ENST00000220676.1	+	4	1335	c.1187G>A	c.(1186-1188)cGa>cAa	p.R396Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	396					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCTATGGAGCGAAGCAGTAAT	0.433000													5	45					0	0	0.00116845	0	0
KIAA1324	57535	broad.mit.edu	37	1	109714518	109714518	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:109714518C>T	ENST00000369939.3	+	4	681	c.498C>T	c.(496-498)atC>atT	p.I166I	KIAA1324_ENST00000529753.1_Silent_p.I166I	NM_020775.4	NP_065826.2	Q6UXG2	K1324_HUMAN	KIAA1324	166					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCGACTACATCGCCTCCAACA	0.562000													13	265					0	0	0.000422831	0	0
ANK3	288	broad.mit.edu	37	10	61833786	61833786	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:61833786C>T	ENST00000280772.1	-	37	7044	c.6853G>A	c.(6853-6855)Gat>Aat	p.D2285N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2285					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGGAAGGATCCCGCCCGGAC	0.488000													7	137					0	0	0.000274275	0	0
DNAH3	55567	broad.mit.edu	37	16	20999068	20999068	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:20999068C>T	ENST00000261383.3	-	46	6828	c.6829G>A	c.(6829-6831)Gac>Aac	p.D2277N	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2277	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CGTGAGAAGTCCCGCAGGTTA	0.478000													5	56					0	0	0.000602214	0	0
NEK6	10783	broad.mit.edu	37	9	127089717	127089717	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:127089717C>T	ENST00000373600.3	+	8	932	c.717C>T	c.(715-717)caC>caT	p.H239H	NEK6_ENST00000320246.5_Silent_p.H205H|NEK6_ENST00000540326.1_Silent_p.H223H|NEK6_ENST00000394199.2_Silent_p.H239H|NEK6_ENST00000373603.1_Silent_p.H205H|NEK6_ENST00000545174.1_Silent_p.H205H|NEK6_ENST00000546191.1_Silent_p.H205H|NEK6_ENST00000539416.1_Silent_p.H230H	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	205	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						CCGCAGCCCACTCCCTAGGTA	0.617000													5	63					0	0	0.00116845	0	0
FCRL5	83416	broad.mit.edu	37	1	157514089	157514089	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:157514089G>A	ENST00000361835.3	-	5	964	c.807C>T	c.(805-807)gtC>gtT	p.V269V	FCRL5_ENST00000368190.3_Silent_p.V269V|FCRL5_ENST00000368191.3_Silent_p.V184V|FCRL5_ENST00000368189.3_Silent_p.V269V|FCRL5_ENST00000356953.4_Silent_p.V269V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	269	Ig-like C2-type 2.		V -> I (in dbSNP:rs12036228).			integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGTCAGATATGACGCTGTAAG	0.507000													7	151					0	0	0.000274275	0	0
SYNGAP1	8831	broad.mit.edu	37	6	33414468	33414468	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:33414468C>T	ENST00000418600.2	+	17	3800	c.3699C>T	c.(3697-3699)atC>atT	p.I1233I	SYNGAP1_ENST00000293748.5_Silent_p.I1233I|SYNGAP1_ENST00000428982.2_Silent_p.I1174I|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	1233					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCAGCAAAATCCTGATGCAGT	0.537000													6	37					0	0	0.00116845	0	0
PLEKHA6	22874	broad.mit.edu	37	1	204214775	204214775	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:204214775G>A	ENST00000272203.3	-	14	2316	c.2000C>T	c.(1999-2001)cCc>cTc	p.P667L	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P687L	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	667										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GCCCCGGGAGGGGTTGTTCTT	0.597000													4	49					0	0	0.00024832	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869543	151869543	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:151869543C>T	ENST00000329342.5	+	3	458	c.233C>T	c.(232-234)cCt>cTt	p.P78L		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	78							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAACTACCCTCTCTGGAGC	0.592000													4	19					0	0	0.000602214	0	0
SLC25A19	60386	broad.mit.edu	37	17	73269592	73269592	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:73269592G>A	ENST00000402418.3	-	6	1812	c.903C>T	c.(901-903)ttC>ttT	p.F301F	SLC25A19_ENST00000375261.4_Silent_p.F244F|SLC25A19_ENST00000416858.2_Silent_p.F301F|SLC25A19_ENST00000580994.1_Silent_p.F301F|SLC25A19_ENST00000320362.3_Silent_p.F301F|SLC25A19_ENST00000442286.2_Silent_p.F301F|RP11-649A18.12_ENST00000585075.1_RNA|RP11-649A18.12_ENST00000582668.1_RNA			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	301						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ATTCATACGAGAAGAACATGA	0.582000													5	48					0	0	8.12818e-05	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69046282	69046282	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:69046282C>T	ENST00000295381.3	+	9	1447	c.1028C>T	c.(1027-1029)aCt>aTt	p.T343I	ARHGAP25_ENST00000409030.3_Missense_Mutation_p.T336I|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.T344I|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.T37I|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.T304I|ARHGAP25_ENST00000497079.1_Missense_Mutation_p.T337I|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.T337I	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	343	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						AGAGTGATGACTATGATGATC	0.507000													6	216					0	0	0.000157383	0	0
PPT2-EGFL8	100532746	broad.mit.edu	37	6	32123668	32123668	+	Silent	SNP	C	C	T	rs139503026	by1000genomes	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:32123668C>T	ENST00000422437.1	+	5	645	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	PPT2_ENST00000493548.1_3'UTR|PPT2-EGFL8_ENST00000453656.2_3'UTR|PPT2_ENST00000395523.1_Silent_p.L152L|PPT2_ENST00000437001.2_Silent_p.L29L|PPT2_ENST00000375137.2_Silent_p.L152L|PPT2_ENST00000361568.2_Silent_p.L158L|PPT2_ENST00000445576.2_Silent_p.L152L|PPT2_ENST00000324816.6_Silent_p.L152L|PPT2_ENST00000375143.2_Silent_p.L152L																							CTTGAAGTGGCTGTTCCCCAC	0.532000													7	218					0	0	0.000274275	0	0
IFNAR2	3455	broad.mit.edu	37	21	34621123	34621123	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr21:34621123C>T	ENST00000433395.2	+	2	227	c.227C>T	c.(226-228)tCg>tTg	p.S76L	IFNAR2_ENST00000342101.3_Silent_p.L168L|IFNAR2_ENST00000382241.3_Silent_p.L168L|IFNAR2_ENST00000342136.4_Silent_p.L168L|IFNAR2_ENST00000404220.3_Silent_p.L168L|IFNAR2_ENST00000382264.3_Silent_p.L168L|IFNAR2_ENST00000413881.1_Silent_p.L96L																							ATTTATCTCTCGTCATTGAAG	0.388000													9	140					0	0	0.000442599	0	0
GYG2	8908	broad.mit.edu	37	X	2772118	2772118	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:2772118G>A	ENST00000381163.3	+	5	622	c.340G>A	c.(340-342)Ggg>Agg	p.G114R	GYG2_ENST00000542787.1_Missense_Mutation_p.G114R|GYG2_ENST00000398806.3_Missense_Mutation_p.G83R|GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Missense_Mutation_p.G114R	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	114					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity	p.G114R(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTGAGCTCGGGCTCACCCT	0.507000													3	8					0	0	6.4e-05	0	0
DNAH10	196385	broad.mit.edu	37	12	124419917	124419917	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:124419917G>A	ENST00000409039.3	+	78	13330	c.13305G>A	c.(13303-13305)atG>atA	p.M4435I	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	4435					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)		CCACCTCCATGAGAAGGAACG	0.552000													6	74					0	0	0.00116845	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029392	83029392	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:83029392G>A	ENST00000307792.3	-	11	1785	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	SEMA3E_ENST00000427262.1_Nonsense_Mutation_p.R380*	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	440	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.R440R(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCTTCCACTCGATCTACTGCT	0.368000													6	185					0	0	0.000274275	0	0
GABRG1	2565	broad.mit.edu	37	4	46066470	46066470	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:46066470C>T	ENST00000295452.4	-	5	780	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	205					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)		CTTGAAAATTCCAGTGGACAG	0.274000													6	177					0	0	0.000274275	0	0
PDE1B	5153	broad.mit.edu	37	12	54971099	54971099	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:54971099G>A	ENST00000243052.3	+	15	2034	c.1598G>A	c.(1597-1599)gGg>gAg	p.G533E	PDE1B_ENST00000538346.1_Missense_Mutation_p.G492E|PDE1B_ENST00000394277.3_3'UTR|PPP1R1A_ENST00000547431.1_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.G513E	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	533					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AACCAGAATGGGAATCTGGAT	0.567000													6	94					0	0	8.12818e-05	0	0
CGNL1	84952	broad.mit.edu	37	15	57734666	57734666	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:57734666G>A	ENST00000281282.5	+	4	1871	c.1793G>A	c.(1792-1794)gGa>gAa	p.G598E		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	598						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGCGCCCAAGGAAATAACCAA	0.383000													5	57					0	0	0.00116845	0	0
STRIP2	57464	broad.mit.edu	37	7	129093096	129093096	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:129093096C>T	ENST00000249344.2	+	5	478	c.438C>T	c.(436-438)gtC>gtT	p.V146V	STRIP2_ENST00000435494.2_Silent_p.V146V	NM_020704.2	NP_065755.1			striatin interacting protein 2																		ATTCAGAGGTCGATGTGCTAC	0.512000													5	84					0	0	0.00116845	0	0
NF2	4771	broad.mit.edu	37	22	30050714	30050714	+	Splice_Site	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:30050714G>A	ENST00000338641.4	+	5	957	c.516_splice	c.e5+1	p.R172_splice	NF2_ENST00000403999.3_Splice_Site_p.R172_splice|NF2_ENST00000361452.4_Splice_Site_p.R131_splice|NF2_ENST00000403435.1_Splice_Site_p.R172_splice|NF2_ENST00000353887.4_Splice_Site_p.R89_splice|NF2_ENST00000347330.5_Intron|NF2_ENST00000334961.7_Splice_Site_p.R89_splice|NF2_ENST00000397789.3_Splice_Site_p.R172_splice|NF2_ENST00000413209.2_Intron|NF2_ENST00000361166.4_Splice_Site_p.R172_splice|NF2_ENST00000361676.4_Splice_Site_p.R130_splice	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	172	FERM.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						TTCCAAAAAGGGTAAGAGATT	0.423000			"""D, Mis, N, F, S, O"""		"""meningioma, acoustic neuroma, renal """	"""meningioma, acoustic neuroma"""			Neurofibromatosis, type 2				6	95					0	0	0.000157383	0	0
UBE4B	10277	broad.mit.edu	37	1	10197223	10197223	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:10197223C>T	ENST00000377157.3	+	16	2649	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	UBE4B_ENST00000343090.6_Missense_Mutation_p.R775C|UBE4B_ENST00000253251.8_Missense_Mutation_p.R646C	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	775					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TAGTTGCCGTCGCTATATCCG	0.532000													7	124					0	0	8.12818e-05	0	0
MYT1L	23040	broad.mit.edu	37	2	1843014	1843014	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:1843014G>A	ENST00000399161.2	-	21	3734	c.2987C>T	c.(2986-2988)tCc>tTc	p.S996F	MYT1L_ENST00000428368.2_Missense_Mutation_p.S994F|MYT1L_ENST00000407844.1_5'UTR|MYT1L_ENST00000471668.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	996					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CGACTTCCAGGAGAACTGGGA	0.647000													5	32					0	0	0.000602214	0	0
RNF25	64320	broad.mit.edu	37	2	219532830	219532830	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:219532830G>A	ENST00000295704.2	-	4	699	c.259C>T	c.(259-261)Cga>Tga	p.R87*		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	87	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAAGTCCTCGGGGATTTCGG	0.517000													7	250					0	0	0.000274275	0	0
FNDC4	64838	broad.mit.edu	37	2	27716322	27716322	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:27716322C>T	ENST00000264703.3	-	5	869	c.478G>A	c.(478-480)Gat>Aat	p.D160N		NM_022823.2	NP_073734.1	Q9H6D8	FNDC4_HUMAN	fibronectin type III domain containing 4	160						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CGCTCTCCATCCAGACCTTCC	0.567000													7	154					0	0	0.000157383	0	0
MARS	4141	broad.mit.edu	37	12	57883716	57883716	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:57883716C>T	ENST00000262027.5	+	5	586	c.452C>T	c.(451-453)gCc>gTc	p.A151V	MARS_ENST00000447721.2_Intron|MARS_ENST00000315473.5_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	151	GST C-terminal.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TTGTGGGGAGCCCTATACCCA	0.478000													6	180					0	0	8.12818e-05	0	0
IL1B	3553	broad.mit.edu	37	2	113588929	113588929	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:113588929C>T	ENST00000263341.2	-	6	747	c.537G>A	c.(535-537)aaG>aaA	p.K179K	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	179					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)	GATTCTTTTCCTTGAGGCCCA	0.468000													6	118					0	0	0.00116845	0	0
MYH2	4620	broad.mit.edu	37	17	10433048	10433048	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:10433048G>A	ENST00000245503.5	-	24	3334	c.2950C>T	c.(2950-2952)Ctc>Ttc	p.L984F	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.L984F|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	984					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L984I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCTTCTGTGAGGTTTTTCACC	0.468000													7	158					0	0	0.000157383	0	0
MYH15	22989	broad.mit.edu	37	3	108110703	108110703	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:108110703C>T	ENST00000273353.3	-	38	5450	c.5394G>A	c.(5392-5394)atG>atA	p.M1798I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1798						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TTGTCTGCTCCATATTTTCTC	0.453000													6	139					0	0	0.00116845	0	0
SLC2A1	6513	broad.mit.edu	37	1	43395584	43395584	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:43395584G>A	ENST00000426263.3	-	5	817	c.639C>T	c.(637-639)ttC>ttT	p.F213F	SLC2A1_ENST00000475162.1_Intron|SLC2A1_ENST00000415851.2_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	213					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGATGAGCAGGAAGCGGGGAC	0.647000													6	56					0	0	0.00116845	0	0
CBLC	23624	broad.mit.edu	37	19	45303658	45303658	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr19:45303658C>T	ENST00000270279.3	+	10	1446	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	CBLC_ENST00000341505.4_Silent_p.S415S	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	461					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AGGGGAACTCCCCTCCAGCTG	0.617000			M		AML						OREG0025543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	166					0	0	0.000274275	0	0
OR9K2	441639	broad.mit.edu	37	12	55523878	55523878	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:55523878A>G	ENST00000305377.5	+	1	414	c.326A>G	c.(325-327)aAc>aGc	p.N109S		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GCTATGATCAACTTCTGGTCT	0.458000													6	138					0	0	0.00116845	0	0
ATP10B	23120	broad.mit.edu	37	5	160097641	160097641	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:160097641C>T	ENST00000327245.5	-	7	1350	c.504G>A	c.(502-504)aaG>aaA	p.K168K		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	168					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGCGCACATCCTTCCAGCACT	0.458000													5	114					0	0	0.00116845	0	0
MICAL3	57553	broad.mit.edu	37	22	18301214	18301214	+	Missense_Mutation	SNP	G	G	A	rs143411730	by1000genomes	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:18301214G>A	ENST00000441493.2	-	26	4565	c.4213C>T	c.(4213-4215)Cgg>Tgg	p.R1405W		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1405	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)		GACGGGGACCGGGGGGTTGGC	0.667000													13	81					0	0	0.00074312	0	0
KIF23	9493	broad.mit.edu	37	15	69737190	69737190	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:69737190C>T	ENST00000260363.4	+	19	2558	c.2441C>T	c.(2440-2442)tCt>tTt	p.S814F	KIF23_ENST00000559279.1_Missense_Mutation_p.S710F|KIF23_ENST00000395392.2_Missense_Mutation_p.S807F|KIF23_ENST00000352331.4_Missense_Mutation_p.S710F|KIF23_ENST00000558585.1_Missense_Mutation_p.S527F|KIF23_ENST00000537891.1_Missense_Mutation_p.S527F	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	814					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CGATCACGCTCTGCAGGAGAC	0.463000													6	60					0	0	0.00116845	0	0
A4GNT	51146	broad.mit.edu	37	3	137849913	137849913	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:137849913C>T	ENST00000236709.3	-	2	387	c.186G>A	c.(184-186)gaG>gaA	p.E62E		NM_016161.2	NP_057245.1	Q9UNA3	A4GCT_HUMAN	alpha-1,4-N-acetylglucosaminyltransferase	62					protein O-linked glycosylation	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	acetylglucosaminyltransferase activity|galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)	16						AATGGGGTGGCTCCATTCTCT	0.522000													7	272					0	0	0.000157383	0	0
KARS	3735	broad.mit.edu	37	16	75670437	75670437	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:75670437G>A	ENST00000319410.5	-	5	602	c.481C>T	c.(481-483)Cat>Tat	p.H161Y	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.H133Y	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	133					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CTTTTGGCATGGATCCTACCT	0.413000													7	143					0	0	0.000157383	0	0
C17orf77	146723	broad.mit.edu	37	17	72588229	72588229	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:72588229C>T	ENST00000392620.1	+	3	406	c.44C>T	c.(43-45)cCt>cTt	p.P15L	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.P15L	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	15						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						TGTCTCCTTCCTGAGAACAGA	0.483000													6	136					0	0	8.12818e-05	0	0
MS4A2	2206	broad.mit.edu	37	11	59857933	59857933	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:59857933G>A	ENST00000278888.3	+	3	413	c.311G>A	c.(310-312)gGa>gAa	p.G104E		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	104					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CCATTCTGGGGAGCCATATTT	0.338000													6	105					0	0	8.12818e-05	0	0
MOSPD3	64598	broad.mit.edu	37	7	100212656	100212656	+	Splice_Site	SNP	T	T	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:100212656T>G	ENST00000393950.2	+	4	958		c.e4+2		MOSPD3_ENST00000223054.4_Splice_Site|MOSPD3_ENST00000379527.2_Splice_Site|MOSPD3_ENST00000424091.2_Splice_Site	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3							integral to membrane	structural molecule activity			breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACGTCTTGGGTGAGGACAGTA	0.627000													4	74					0	0	8.12818e-05	0	0
DEFA3	1668	broad.mit.edu	37	8	6873622	6873622	+	Splice_Site	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:6873622C>T	ENST00000327857.2	-	3	267		c.e3-1		DEFA1B_ENST00000535841.1_Intron	NM_005217.3	NP_005208.1			defensin, alpha 3, neutrophil-specific											endometrium(1)|prostate(2)	3				COAD - Colon adenocarcinoma(149;0.0561)|READ - Rectum adenocarcinoma(644;0.118)		TTCCTTGAGCCTGGGACAGGG	0.498000													6	100					0	0	0.000157383	0	0
HAPLN3	145864	broad.mit.edu	37	15	89424916	89424916	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:89424916C>T	ENST00000359595.3	-	3	379	c.165G>A	c.(163-165)gaG>gaA	p.E55E	HAPLN3_ENST00000562889.1_Silent_p.E117E	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	55	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACAGGGTCTCCTCGGGTGTCT	0.617000													4	35					0	0	0.000602214	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961756	26961756	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:26961756G>A	ENST00000528896.2	-	16	2923	c.2849C>T	c.(2848-2850)tCc>tTc	p.S950F	RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S807F|KIAA0100_ENST00000544884.1_Missense_Mutation_p.S807F	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	950						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAGACGACGGGAACGCTGGAT	0.542000													5	57					0	0	0.000602214	0	0
ITK	3702	broad.mit.edu	37	5	156676015	156676015	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:156676015G>A	ENST00000422843.3	+	16	1941	c.1789G>A	c.(1789-1791)Gag>Aag	p.E597K	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	597	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.E597K(1)		breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCTGGAAAGAGGTCAGTGG	0.522000			T	SYK	peripheral T-cell lymphoma								8	194					0	0	0.000157383	0	0
FGD3	89846	broad.mit.edu	37	9	95795070	95795070	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:95795070C>T	ENST00000375482.3	+	16	2196	c.1700C>T	c.(1699-1701)tCc>tTc	p.S567F	FGD3_ENST00000538555.1_Missense_Mutation_p.S170F|FGD3_ENST00000337352.6_Missense_Mutation_p.S567F|FGD3_ENST00000416701.2_Missense_Mutation_p.S567F	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	567					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|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GGGAAGTGCTCCGAGTTCAAG	0.602000													5	102					0	0	0.00116845	0	0
FAM13C	220965	broad.mit.edu	37	10	61062593	61062593	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:61062593C>T	ENST00000373867.3	-	6	691	c.226G>A	c.(226-228)Gat>Aat	p.D76N	FAM13C_ENST00000435852.2_Missense_Mutation_p.D159N|FAM13C_ENST00000419214.2_Missense_Mutation_p.D159N|FAM13C_ENST00000277705.6_Missense_Mutation_p.D159N|FAM13C_ENST00000468840.2_Missense_Mutation_p.D76N|FAM13C_ENST00000510215.2_5'UTR|FAM13C_ENST00000373868.2_Missense_Mutation_p.D159N|FAM13C_ENST00000422313.2_Missense_Mutation_p.D159N|FAM13C_ENST00000442566.3_Missense_Mutation_p.D159N	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	159										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						TCAAAAGCATCCTTTGGCGAA	0.343000													6	158					0	0	8.12818e-05	0	0
OR2A12	346525	broad.mit.edu	37	7	143792901	143792901	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:143792901G>A	ENST00000408949.2	+	1	761	c.701G>A	c.(700-702)aGa>aAa	p.R234K		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GAGGGCCGCAGAAAGGCCTTC	0.582000													9	102					0	0	0.000442599	0	0
CYP27C1	339761	broad.mit.edu	37	2	127961021	127961021	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:127961021G>A	ENST00000335247.7	-	2	235	c.105C>T	c.(103-105)ctC>ctT	p.L35L	CYP27C1_ENST00000409327.1_Silent_p.L35L	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	35						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GGCTCCTGAGGAGGTAGATTC	0.418000													7	119					0	0	0.000274275	0	0
DNAH3	55567	broad.mit.edu	37	16	20999069	20999069	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:20999069C>T	ENST00000261383.3	-	46	6827	c.6828G>A	c.(6826-6828)cgG>cgA	p.R2276R	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2276	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGAGAAGTCCCGCAGGTTAA	0.473000													5	56					0	0	0.000602214	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545731	234545731	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:234545731C>T	ENST00000344644.5	+	1	632	c.563C>T	c.(562-564)tCc>tTc	p.S188F	UGT1A10_ENST00000373445.1_Missense_Mutation_p.S188F|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCTCCTCTTTCCTATGTCCCC	0.463000													8	141					0	0	0.000157383	0	0
AMY2B	280	broad.mit.edu	37	1	104116494	104116494	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:104116494G>A	ENST00000361355.4	+	6	1294	c.678G>A	c.(676-678)ttG>ttA	p.L226L	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	226					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		AGGCAATTTTGGACAAACTGC	0.383000													8	201					0	0	0.000157383	0	0
TRBV3-1	28619	broad.mit.edu	37	7	142008741	142008741	+	RNA	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:142008741G>A	ENST00000390387.3	+	0	261																											CAATAATAAGGAGCTCATTAT	0.358000													10	129					0	0	0.00185496	0	0
FLG2	388698	broad.mit.edu	37	1	152323898	152323898	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:152323898A>G	ENST00000388718.5	-	3	6436	c.6364T>C	c.(6364-6366)Tca>Cca	p.S2122P	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2122							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTGTCCTGAATGTGTGTGT	0.527000													9	289					0	0	0.000442599	0	0
TMEM108	66000	broad.mit.edu	37	3	133098655	133098655	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:133098655C>T	ENST00000515826.1	+	3	223	c.100C>T	c.(100-102)Ccc>Tcc	p.P34S	TMEM108_ENST00000321871.6_Missense_Mutation_p.P34S|TMEM108_ENST00000393130.3_Missense_Mutation_p.P34S|TMEM108_ENST00000508711.1_Intron			Q6UXF1	TM108_HUMAN	transmembrane protein 108	34						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GGAACCATCTCCCAGGGAATC	0.537000													16	234					0	0	0.000958276	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718517	142718517	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:142718517G>A	ENST00000381779.4	-	2	633	c.408C>T	c.(406-408)ctC>ctT	p.L136L	SLITRK4_ENST00000356928.1_Silent_p.L136L|SLITRK4_ENST00000338017.4_Silent_p.L136L	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	136						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)					AGTCAGCCTGGAGATACTCCA	0.388000													9	78					0	0	0.000442599	0	0
CYLD	1540	broad.mit.edu	37	16	50813885	50813885	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:50813885C>T	ENST00000540145.1	+	9	1863	c.1448C>T	c.(1447-1449)cCt>cTt	p.P483L	CYLD_ENST00000566206.1_Missense_Mutation_p.P480L|CYLD_ENST00000564326.1_Missense_Mutation_p.P480L|CYLD_ENST00000427738.3_Missense_Mutation_p.P483L|CYLD_ENST00000311559.9_Missense_Mutation_p.P483L|CYLD_ENST00000398568.2_Missense_Mutation_p.P480L|CYLD_ENST00000569418.1_Missense_Mutation_p.P480L|CYLD_ENST00000568704.2_Intron			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	483	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GAGAACCCTCCTTTCTATGGG	0.498000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				4	53					0	0	0.00024832	0	0
PTGS2	5743	broad.mit.edu	37	1	186645642	186645642	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:186645642C>T	ENST00000367468.5	-	7	1063	c.927G>A	c.(925-927)tgG>tgA	p.W309*	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	309					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GCTCATCACCCCATTCAGGAT	0.448000													5	106					0	0	0.00116845	0	0
VARS	7407	broad.mit.edu	37	6	31747528	31747528	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:31747528G>A	ENST00000375663.3	-	27	3585	c.3145C>T	c.(3145-3147)Ctg>Ttg	p.L1049L		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	1049					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAAGTGTACAGGGTCTGGCGG	0.637000													7	269					0	0	0.000157383	0	0
EXO1	9156	broad.mit.edu	37	1	242016693	242016693	+	Silent	SNP	A	A	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:242016693A>G	ENST00000366548.3	+	6	908	c.315A>G	c.(313-315)caA>caG	p.Q105Q	EXO1_ENST00000348581.5_Silent_p.Q105Q|EXO1_ENST00000493702.1_3'UTR|EXO1_ENST00000518483.1_Silent_p.Q105Q	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	105					meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGGGAAAGCAACTTCTTCGTG	0.398000								Editing and processing nucleases					4	95					0	0	0.00024832	0	0
MUC16	94025	broad.mit.edu	37	19	9059164	9059164	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr19:9059164C>T	ENST00000397910.4	-	3	28485	c.28282G>A	c.(28282-28284)Gaa>Aaa	p.E9428K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9430	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTGTTTTTTTCCACAGACAGC	0.502000													8	78					0	0	0.000442599	0	0
EHHADH	1962	broad.mit.edu	37	3	184936028	184936028	+	Splice_Site	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:184936028C>T	ENST00000231887.3	-	5	539	c.463_splice	c.e5-1	p.G155_splice	EHHADH_ENST00000456310.1_Splice_Site_p.G59_splice|EHHADH_ENST00000475987.1_5'UTR	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	155	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	AATACGTCTTCCTGAAATAaa	0.383000													6	135					0	0	8.12818e-05	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712361	140712361	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:140712361T>C	ENST00000517417.1	+	1	2110	c.2110T>C	c.(2110-2112)Ttc>Ctc	p.F704L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F704L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTGCGTCTTCCTGGCCTT	0.677000													6	113					0	0	0.000442599	0	0
SLC12A5	57468	broad.mit.edu	37	20	44673632	44673632	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:44673632C>T	ENST00000454036.1	+	12	1567	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L	SLC12A5_ENST00000539566.1_Intron|SLC12A5_ENST00000243964.3_Silent_p.L474L	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	497					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGGCAACCTCGTGGTGGGCA	0.597000													6	155					0	0	0.00116845	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290960	141290960	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:141290960C>T	ENST00000247452.3	-	3	1161	c.814G>A	c.(814-816)Gag>Aag	p.E272K		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	272	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GTGAGGAGCTCCCTAGGCTCC	0.542000										HNSCC(46;0.14)			4	39					0	0	0.00024832	0	0
CFB	629	broad.mit.edu	37	6	31915258	31915258	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:31915258G>A	ENST00000456570.1	+	16	2179	c.2124G>A	c.(2122-2124)caG>caA	p.Q708Q	CFB_ENST00000425368.2_Silent_p.Q206Q|CFB_ENST00000477310.1_Silent_p.Q557Q|CFB_ENST00000556679.1_Silent_p.Q708Q			P00751	CFAB_HUMAN	complement factor B	206	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GAACGTGTCAGGAAGGTGGCT	0.617000													6	214					0	0	8.12818e-05	0	0
CWH43	80157	broad.mit.edu	37	4	49040101	49040101	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:49040101G>A	ENST00000226432.4	+	13	1890	c.1707G>A	c.(1705-1707)ctG>ctA	p.L569L	CWH43_ENST00000513409.1_Silent_p.L542L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	569					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						CAAAACTACTGAAAAGTAGCT	0.358000													11	266					0	0	0.00185496	0	0
ITFG3	83986	broad.mit.edu	37	16	309980	309980	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:309980C>T	ENST00000399932.3	+	5	849	c.398C>T	c.(397-399)cCc>cTc	p.P133L	ITFG3_ENST00000450082.2_Missense_Mutation_p.P133L|ITFG3_ENST00000442458.2_Missense_Mutation_p.P133L|ITFG3_ENST00000600536.1_Missense_Mutation_p.P133L|ITFG3_ENST00000301678.3_Missense_Mutation_p.P133L|ITFG3_ENST00000301679.2_Missense_Mutation_p.P133L			Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	133						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TTTTCCTCTCCCTGCACCTTT	0.642000													4	36					0	0	0.000602214	0	0
NSUN7	79730	broad.mit.edu	37	4	40810421	40810421	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:40810421G>A	ENST00000381782.2	+	12	2117	c.1622G>A	c.(1621-1623)cGg>cAg	p.R541Q	NSUN7_ENST00000316607.5_3'UTR	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TCATCAAAACGGGAGAAGAAG	0.443000													4	37					0	0	0.00024832	0	0
TRAF6	7189	broad.mit.edu	37	11	36520147	36520147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:36520147C>T	ENST00000526995.1	-	3	586	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	TRAF6_ENST00000348124.5_Missense_Mutation_p.E114K	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	114	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|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|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				AGTTGATTTTCCAGCAGTATT	0.353000													7	55					0	0	0.000157383	0	0
FRK	2444	broad.mit.edu	37	6	116264247	116264247	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:116264247G>A	ENST00000606080.1	-	7	1688	c.1242C>T	c.(1240-1242)tcC>tcT	p.S414S	FRK_ENST00000538210.1_Silent_p.S272S	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	414	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		ACCATACATCGGACTTAATGC	0.393000													5	55					0	0	0.00116845	0	0
PRDM9	56979	broad.mit.edu	37	5	23526485	23526485	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:23526485C>T	ENST00000296682.3	+	11	1470	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	430					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACCAGAGAATCCCTGCCCAGG	0.453000										HNSCC(3;0.000094)			5	79					0	0	0.00116845	0	0
FABP12	646486	broad.mit.edu	37	8	82441826	82441826	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:82441826C>T	ENST00000360464.4	-	2	155	c.93G>A	c.(91-93)agG>agA	p.R31R	RP11-257P3.3_ENST00000523380.1_RNA	NM_001105281.1	NP_001098751.1	A6NFH5	FBP12_HUMAN	fatty acid binding protein 12	31							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GGCCCAGTTTCCTGCTGGCTC	0.348000													5	55					0	0	0.00116845	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917793	3917793	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:3917793G>A	ENST00000381638.2	-	50	8286	c.8162C>T	c.(8161-8163)cCt>cTt	p.P2721L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2721							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GATGGCACCAGGAATGTGAAC	0.522000													6	95					0	0	8.12818e-05	0	0
HTRA4	203100	broad.mit.edu	37	8	38839233	38839233	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:38839233C>T	ENST00000302495.4	+	6	1161	c.1061C>T	c.(1060-1062)cCt>cTt	p.P354L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	354	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			TTTGCAATTCCTTCAGATCGA	0.428000													8	125					0	0	0.000673444	0	0
TNXB	7148	broad.mit.edu	37	6	32049925	32049925	+	Silent	SNP	G	G	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:32049925G>C	ENST00000375244.3	-	9	3825	c.3624C>G	c.(3622-3624)ccC>ccG	p.P1208P	TNXB_ENST00000375247.2_Silent_p.P1208P			P22105	TENX_HUMAN	tenascin XB	1295	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATGAACGCTCGGGCCCTTCCA	0.577000													6	165					0	0	0.00116845	0	0
RGS12	6002	broad.mit.edu	37	4	3344679	3344679	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:3344679C>T	ENST00000336727.3	+	3	2801	c.1897C>T	c.(1897-1899)Cgg>Tgg	p.R633W	RGS12_ENST00000344733.5_Missense_Mutation_p.R633W|RGS12_ENST00000543385.1_Missense_Mutation_p.R633W|RGS12_ENST00000382788.3_Missense_Mutation_p.R633W|RGS12_ENST00000306648.7_Missense_Mutation_p.R31W	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	633						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.R633W(1)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAATTTGGGCGGGGAACTGG	0.448000													6	107					0	0	8.12818e-05	0	0
CDCA7L	55536	broad.mit.edu	37	7	21946010	21946010	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:21946010C>T	ENST00000406877.3	-	6	1097	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	CDCA7L_ENST00000356195.5_Missense_Mutation_p.R239Q|CDCA7L_ENST00000373934.4_Missense_Mutation_p.R227Q|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	273					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CCGCGCACTCCGGGTTGGGTT	0.527000													6	120					0	0	0.000157383	0	0
ESRP1	54845	broad.mit.edu	37	8	95686589	95686589	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:95686589T>A	ENST00000433389.2	+	12	1696	c.1506T>A	c.(1504-1506)ttT>ttA	p.F502L	ESRP1_ENST00000423620.2_Missense_Mutation_p.F502L|ESRP1_ENST00000454170.2_Missense_Mutation_p.F502L|ESRP1_ENST00000358397.5_Missense_Mutation_p.F502L	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	502	RRM 3.				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						ACAGAGCATTTATGGCTGCAC	0.453000													14	388					0	0	0.000566183	0	0
HAVCR2	84868	broad.mit.edu	37	5	156533773	156533773	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:156533773C>T	ENST00000307851.4	-	2	989	c.259G>A	c.(259-261)Gat>Aat	p.D87N	CTB-120L21.1_ENST00000517708.1_RNA|HAVCR2_ENST00000517358.1_5'UTR|HAVCR2_ENST00000522593.1_Missense_Mutation_p.D87N	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	87	Ig-like V-type.					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)			TTGCGGAAATCCCCATTTAGC	0.488000													12	548					0	0	0.00185496	0	0
EZH2	2146	broad.mit.edu	37	7	148524307	148524307	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:148524307G>A	ENST00000320356.2	-	7	798	c.677C>T	c.(676-678)gCc>gTc	p.A226V	EZH2_ENST00000478654.1_Missense_Mutation_p.A217V|EZH2_ENST00000536783.1_Missense_Mutation_p.A117V|EZH2_ENST00000541220.1_Missense_Mutation_p.A217V|EZH2_ENST00000476773.1_Missense_Mutation_p.A217V|EZH2_ENST00000460911.1_Missense_Mutation_p.A226V|EZH2_ENST00000350995.2_Missense_Mutation_p.A187V|EZH2_ENST00000483967.1_Missense_Mutation_p.A217V	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	226	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TGAGGAAATGGCTTCAAAAAT	0.363000			Mis		DLBCL								13	246					0	0	0.000566183	0	0
MAATS1	89876	broad.mit.edu	37	3	119456294	119456294	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:119456294C>T	ENST00000273390.5	+	11	1503	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W		NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		ACCTCAACCTCGGCTTCCAAC	0.368000													5	73					0	0	0.000602214	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221255	118221255	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:118221255A>T	ENST00000402510.2	-	11	3937	c.3938T>A	c.(3937-3939)gTt>gAt	p.V1313D		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1313										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACTGGCAGAAACAGGGGAGAC	0.493000													8	122					0	0	0.000978159	0	0
DMD	1756	broad.mit.edu	37	X	32472871	32472871	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:32472871C>T	ENST00000357033.4	-	26	3717	c.3511G>A	c.(3511-3513)Gaa>Aaa	p.E1171K	DMD_ENST00000378677.2_Missense_Mutation_p.E1167K	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1171					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.E1166K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCATCCATTCGTGCATCTCT	0.388000													5	78					0	0	0.000602214	0	0
ELTD1	64123	broad.mit.edu	37	1	79383604	79383604	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:79383604C>T	ENST00000370742.3	-	11	1656	c.1593G>A	c.(1591-1593)aaG>aaA	p.K531K		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	531					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TATAAAAATTCTTGTGCAAAA	0.388000													8	162					0	0	0.000274275	0	0
TRPC5	7224	broad.mit.edu	37	X	111155615	111155615	+	Silent	SNP	G	G	A	rs146697323		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:111155615G>A	ENST00000262839.2	-	3	1722	c.804C>T	c.(802-804)atC>atT	p.I268I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	268					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GATGGTTGAGGATGATCTCCA	0.512000													6	95					0	0	8.12818e-05	0	0
SLC35G2	80723	broad.mit.edu	37	3	136573809	136573809	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:136573809C>T	ENST00000446465.2	+	2	1135	c.507C>T	c.(505-507)ttC>ttT	p.F169F	RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Silent_p.F169F|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2	Q8TBE7	TMM22_HUMAN	solute carrier family 35, member G2	169	DUF6 1.					Golgi apparatus|integral to membrane											TACGACTCTTCTTTTATGGTG	0.408000													6	178					0	0	0.000274275	0	0
CMYA5	202333	broad.mit.edu	37	5	79026302	79026302	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:79026302C>T	ENST00000446378.2	+	2	1745	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	572	Glu-rich.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGCATCATCTCCTGAACATGT	0.433000													9	366					0	0	0.000978159	0	0
ITK	3702	broad.mit.edu	37	5	156671378	156671378	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:156671378C>T	ENST00000422843.3	+	13	1491	c.1339C>T	c.(1339-1341)Cta>Tta	p.L447L	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	447	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCAGATTATCTACGCACCCA	0.577000			T	SYK	peripheral T-cell lymphoma								12	335					0	0	0.000219431	0	0
OR52B6	340980	broad.mit.edu	37	11	5602581	5602581	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:5602581G>A	ENST00000345043.2	+	1	475	c.475G>A	c.(475-477)Gtc>Atc	p.V159I	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACAAGCAAGGTCATTGGGAA	0.512000													6	198					0	0	8.12818e-05	0	0
MTNR1B	4544	broad.mit.edu	37	11	92714658	92714658	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:92714658C>T	ENST00000257068.2	+	2	275	c.269C>T	c.(268-270)gCc>gTc	p.A90V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	90					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTGGTGGTGGCCTTCTACCCC	0.572000													11	361					0	0	0.00185496	0	0
TRPM1	4308	broad.mit.edu	37	15	31294517	31294517	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:31294517G>A	ENST00000542188.1	-	27	4750	c.4437C>T	c.(4435-4437)ttC>ttT	p.F1479F	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Silent_p.F1440F|TRPM1_ENST00000256552.6_Silent_p.F1462F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1440					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGGAATAGACGAAGCTTCTGG	0.463000													6	113					0	0	0.00116845	0	0
PASD1	139135	broad.mit.edu	37	X	150839576	150839576	+	Silent	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:150839576T>C	ENST00000370357.4	+	12	1383	c.1138T>C	c.(1138-1140)Ttg>Ctg	p.L380L		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	380						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GATGAAGAAGTTGAAGGAGCA	0.448000													6	107					0	0	0.00116845	0	0
KCNMA1	3778	broad.mit.edu	37	10	78870048	78870048	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:78870048G>A	ENST00000286627.5	-	8	1966	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	KCNMA1_ENST00000406533.3_Silent_p.T338T|KCNMA1_ENST00000354353.5_Silent_p.T338T|KCNMA1_ENST00000404857.1_Silent_p.T338T|KCNMA1_ENST00000286628.8_Silent_p.T338T|KCNMA1_ENST00000404771.3_Silent_p.T338T|KCNMA1_ENST00000372440.1_Silent_p.T338T|KCNMA1_ENST00000372443.1_Silent_p.T338T	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	338					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATTCCCAGTAGGTGAGAGCCT	0.443000													9	199					0	0	0.00136819	0	0
CNTN1	1272	broad.mit.edu	37	12	41337963	41337963	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:41337963G>A	ENST00000551295.2	+	14	1791	c.1674G>A	c.(1672-1674)agG>agA	p.R558R	CNTN1_ENST00000547849.1_Silent_p.R558R|CNTN1_ENST00000347616.1_Silent_p.R558R|CNTN1_ENST00000547702.1_Silent_p.R558R|CNTN1_ENST00000348761.2_Silent_p.R547R|CNTN1_ENST00000360099.3_Silent_p.R558R	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	558	Ig-like C2-type 6.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACTACCAGAGGAATTTTATGG	0.353000													4	53					0	0	0.00024832	0	0
BRINP1	1620	broad.mit.edu	37	9	122075601	122075601	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr9:122075601G>A	ENST00000265922.3	-	2	494	c.33C>T	c.(31-33)ttC>ttT	p.F11F	DBC1_ENST00000373964.2_Silent_p.F11F	NM_014618.2	NP_055433.2	O60477	DBC1_HUMAN		11					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						ATATAAACAGGAAGTAGAGGA	0.473000													4	40					0	0	0.00024832	0	0
FGD6	55785	broad.mit.edu	37	12	95604851	95604851	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:95604851G>A	ENST00000343958.4	-	2	432	c.209C>T	c.(208-210)tCg>tTg	p.S70L	FGD6_ENST00000546711.1_Missense_Mutation_p.S70L|FGD6_ENST00000549499.1_Missense_Mutation_p.S70L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	70					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CCTTGATGGCGACTGCCCAAT	0.418000													12	268					0	0	0.00185496	0	0
IGF2BP2	10644	broad.mit.edu	37	3	185416115	185416115	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:185416115C>T	ENST00000382199.2	-	3	355	c.260G>A	c.(259-261)cGa>cAa	p.R87Q	IGF2BP2_ENST00000421047.2_Missense_Mutation_p.R24Q|IGF2BP2_ENST00000346192.3_Missense_Mutation_p.R87Q|IGF2BP2_ENST00000457616.2_Missense_Mutation_p.R87Q	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	87	RRM 2.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			AGGGATGTTTCGAATCTGAAT	0.398000													9	435					0	0	0.000978159	0	0
SYCP2L	221711	broad.mit.edu	37	6	10956372	10956372	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:10956372G>A	ENST00000283141.6	+	25	2356	c.2060G>A	c.(2059-2061)gGa>gAa	p.G687E		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	687						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TTTCCAGAAGGAATTTCCACT	0.368000													4	33					0	0	0.000602214	0	0
TENM1	10178	broad.mit.edu	37	X	123775740	123775740	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:123775740G>A	ENST00000422452.2	-	11	2041	c.1978C>T	c.(1978-1980)Cct>Tct	p.P660S	TENM1_ENST00000371130.3_Missense_Mutation_p.P660S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TGACATACAGGAAGTGGTGTT	0.502000													6	119					0	0	0.00116845	0	0
ACE2	59272	broad.mit.edu	37	X	15580108	15580108	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:15580108G>A	ENST00000427411.1	-	19	2554	c.2338C>T	c.(2338-2340)Cct>Tct	p.P780S	ACE2_ENST00000252519.3_Missense_Mutation_p.P780S|ACE2_ENST00000471548.1_5'UTR	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	780					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GAGGCATAAGGATTTTCTCCA	0.328000													5	42					0	0	0.00116845	0	0
PPFIA2	8499	broad.mit.edu	37	12	81741355	81741355	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:81741355C>T	ENST00000550584.2	-	17	2484	c.2189G>A	c.(2188-2190)cGa>cAa	p.R730Q	PPFIA2_ENST00000552948.1_Missense_Mutation_p.R730Q|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R577Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R656Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R712Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R631Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R712Q|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R297Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R730Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R730Q	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	656										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GGCAGGGCTTCGAGGGGTGAG	0.527000													7	119					0	0	0.000274275	0	0
PLCB4	5332	broad.mit.edu	37	20	9424652	9424652	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:9424652G>A	ENST00000378501.2	+	27	2768	c.2753G>A	c.(2752-2754)aGg>aAg	p.R918K	PLCB4_ENST00000378493.1_Missense_Mutation_p.R918K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Missense_Mutation_p.R918K|PLCB4_ENST00000378473.3_Missense_Mutation_p.R930K|PLCB4_ENST00000278655.4_Missense_Mutation_p.R918K|PLCB4_ENST00000414679.2_Missense_Mutation_p.R930K	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	918					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R918K(1)		NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						CCTCAAGTAAGGATAGAAGAC	0.299000													6	106					0	0	8.12818e-05	0	0
PPL	5493	broad.mit.edu	37	16	4937169	4937169	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:4937169C>T	ENST00000345988.2	-	21	2663	c.2574G>A	c.(2572-2574)caG>caA	p.Q858Q	PPL_ENST00000590782.2_Silent_p.Q856Q	NM_002705.4	NP_002696.3	O60437	PEPL_HUMAN	periplakin	858					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACTCCAGATTCTGCAGCCTCT	0.458000													8	234					0	0	0.000978159	0	0
SLC17A9	63910	broad.mit.edu	37	20	61595602	61595602	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:61595602C>T	ENST00000370349.3	+	9	1031	c.827C>T	c.(826-828)cCt>cTt	p.P276L	SLC17A9_ENST00000370351.4_Missense_Mutation_p.P282L|SLC17A9_ENST00000488738.1_3'UTR			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	282					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						AACGTGGTTCCTTGGTTGGTG	0.607000													12	152					0	0	0.000308642	0	0
SLC26A3	1811	broad.mit.edu	37	7	107431670	107431670	+	Silent	SNP	C	C	T	rs140184294		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:107431670C>T	ENST00000340010.5	-	5	577	c.393G>A	c.(391-393)ccG>ccA	p.P131P	SLC26A3_ENST00000422236.2_Silent_p.P96P	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	131			P -> R (in DIAR1).		excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TACTCAGAATCGGAAACGGAC	0.423000													7	107					0	0	8.12818e-05	0	0
SSX6	280657	broad.mit.edu	37	X	47978927	47978927	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:47978927G>A	ENST00000319275.3	+	7	550	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	SSX6_ENST00000376932.2_Missense_Mutation_p.G160R																large_intestine(6)|lung(4)|skin(2)|stomach(1)	13						ACCCAAAAGGGGGAAACATGC	0.507000													7	146					0	0	0.000442599	0	0
EP400	57634	broad.mit.edu	37	12	132505635	132505635	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:132505635C>T	ENST00000333577.4	+	24	4676	c.4567C>T	c.(4567-4569)Ccg>Tcg	p.P1523S	EP400_ENST00000330386.6_Intron|EP400_ENST00000332482.4_Missense_Mutation_p.P1450S|EP400_ENST00000389561.2_Missense_Mutation_p.P1487S|EP400_ENST00000389562.2_Missense_Mutation_p.P1486S			Q96L91	EP400_HUMAN	E1A binding protein p400	1523					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		AGCAGCAGCCCCGTTTCAGAC	0.498000													5	79					0	0	0.000602214	0	0
DNAH3	55567	broad.mit.edu	37	16	21109965	21109965	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:21109965T>C	ENST00000261383.3	-	17	2491	c.2492A>G	c.(2491-2493)aAc>aGc	p.N831S	DNAH3_ENST00000415178.1_Missense_Mutation_p.N831S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	831	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCGATTTAGGTTCTTTGAAAG	0.428000													5	118					0	0	8.12818e-05	0	0
NCAPD3	23310	broad.mit.edu	37	11	134054884	134054884	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:134054884G>A	ENST00000534548.2	-	18	2313	c.2249C>T	c.(2248-2250)cCc>cTc	p.P750L	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	750					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		GTTTGAATTGGGATTCTGCTG	0.453000													8	217					0	0	0.000157383	0	0
DYNAP	284254	broad.mit.edu	37	18	52262289	52262289	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr18:52262289C>T	ENST00000321600.1	+	2	301	c.255C>T	c.(253-255)atC>atT	p.I85I	DYNAP_ENST00000585973.1_Intron	NM_173629.1	NP_775900.1			dynactin associated protein																		ACCCAGGAATCCTTGCACATT	0.453000													6	137					0	0	0.00116845	0	0
DNAH5	1767	broad.mit.edu	37	5	13759020	13759020	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:13759020C>T	ENST00000265104.4	-	61	10458	c.10354G>A	c.(10354-10356)Gat>Aat	p.D3452N		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3452	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)					TGCTTGTCATCCAACTCGGCC	0.547000									Kartagener syndrome				13	129					0	0	0.000308642	0	0
APOB	338	broad.mit.edu	37	2	21228172	21228172	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:21228172G>A	ENST00000233242.1	-	26	11695	c.11568C>T	c.(11566-11568)atC>atT	p.I3856I		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3856					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)	GCTCAGGCACGATGATGGTGG	0.473000													13	452					0	0	0.000219431	0	0
NRK	203447	broad.mit.edu	37	X	105152843	105152843	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:105152843C>T	ENST00000428173.2	+	13	1516	c.1213C>T	c.(1213-1215)Cag>Tag	p.Q405*	NRK_ENST00000243300.9_Nonsense_Mutation_p.Q404*			Q7Z2Y5	NRK_HUMAN	Nik related kinase	404	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GCCACAGGTCCAGGCACTTCA	0.577000										HNSCC(51;0.14)			4	26					0	0	0.00116845	0	0
MYH2	4620	broad.mit.edu	37	17	10435045	10435045	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:10435045C>T	ENST00000245503.5	-	22	2986	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E868K|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	868					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E868K(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTGGCAAGTTCGTCTTTAATT	0.428000													6	118					0	0	8.12818e-05	0	0
ZNF217	7764	broad.mit.edu	37	20	52198287	52198287	+	Missense_Mutation	SNP	G	G	A	rs139287977		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:52198287G>A	ENST00000371471.2	-	2	1504	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F	ZNF217_ENST00000302342.3_Missense_Mutation_p.S360F			O75362	ZN217_HUMAN	zinc finger protein 217	360					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGCGTCCACGGAGGGCGCTTC	0.562000													6	62					0	0	0.000157383	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513369	50513369	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:50513369G>A	ENST00000419119.1	-	2	3170	c.1617C>T	c.(1615-1617)atC>atT	p.I539I	FIGNL1_ENST00000433017.1_Silent_p.I539I|FIGNL1_ENST00000395556.2_Silent_p.I539I|FIGNL1_ENST00000356889.4_Silent_p.I539I			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	539					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CCACCACTAGGATACGATCTT	0.433000													7	116					0	0	0.000673444	0	0
ABCC9	10060	broad.mit.edu	37	12	21962843	21962843	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:21962843C>T	ENST00000261200.4	-	35	4257	c.4258G>A	c.(4258-4260)Gaa>Aaa	p.E1420K	ABCC9_ENST00000345162.2_Missense_Mutation_p.E1384K|ABCC9_ENST00000261201.4_Missense_Mutation_p.E1420K	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1420	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCTAAGGCTTCCCAGAGTCTG	0.313000													5	97					0	0	0.000274275	0	0
C6	729	broad.mit.edu	37	5	41203209	41203209	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:41203209C>T	ENST00000263413.3	-	2	388	c.124G>A	c.(124-126)Gga>Aga	p.G42R	C6_ENST00000337836.5_Missense_Mutation_p.G42R	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	42	TSP type-1 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTCTGGGTTCCAGAATTGCAA	0.493000													11	211					0	0	0.000978159	0	0
CNST	163882	broad.mit.edu	37	1	246754998	246754998	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:246754998G>A	ENST00000366513.4	+	2	403	c.134G>A	c.(133-135)gGg>gAg	p.G45E	CNST_ENST00000366512.3_Missense_Mutation_p.G45E|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	45					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						CAGCTTGACGGGGACGGGCAT	0.493000													4	36					0	0	0.00024832	0	0
OR4E2	26686	broad.mit.edu	37	14	22133359	22133359	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr14:22133359G>A	ENST00000408935.1	+	1	63	c.63G>A	c.(61-63)cgG>cgA	p.R21R		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CTGATAACCGGGTGCTGGAAA	0.408000													5	114					0	0	0.000602214	0	0
USH2A	7399	broad.mit.edu	37	1	216251642	216251642	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:216251642C>T	ENST00000366943.2	-	27	5747	c.5361G>A	c.(5359-5361)gtG>gtA	p.V1787V	RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000307340.3_Silent_p.V1787V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1787	Laminin G-like 2.				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)		GCAATAGATCCACTTGTGTAA	0.343000										HNSCC(13;0.011)			11	371					0	0	0.00136819	0	0
TRGC1	6966	broad.mit.edu	37	7	38305101	38305101	+	RNA	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:38305101C>T	ENST00000443402.2	-	0	178					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCATGGTGTTCCCCTCCTGGG	0.413000													9	147					0	0	0.000978159	0	0
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:16285497A>G	ENST00000302182.3	+	2	668	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395837.1_Silent_p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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 ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557000													4	50					0	0	0.00024832	0	0
TTN	7273	broad.mit.edu	37	2	179613520	179613520	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:179613520G>A	ENST00000360870.5	-	46	13829	c.13607C>T	c.(13606-13608)tCc>tTc	p.S4536F	TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	668	Ig-like 25.						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)			AGTTTGAGAGGAAAGCAGCTT	0.323000													6	102					0	0	8.12818e-05	0	0
SH3D19	152503	broad.mit.edu	37	4	152096098	152096098	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:152096098G>A	ENST00000409598.4	-	7	1585	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	SH3D19_ENST00000409252.2_Missense_Mutation_p.P140S|SH3D19_ENST00000424281.1_Missense_Mutation_p.P140S|SH3D19_ENST00000455740.1_Missense_Mutation_p.P140S|SH3D19_ENST00000427414.2_Missense_Mutation_p.P140S|SH3D19_ENST00000514152.1_Missense_Mutation_p.P140S|SH3D19_ENST00000304527.4_Missense_Mutation_p.P140S			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	140	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				AAAGGCCGCGGGGCAGGAGTT	0.557000													6	125					0	0	0.000157383	0	0
DTX3L	151636	broad.mit.edu	37	3	122287963	122287963	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:122287963C>T	ENST00000296161.4	+	3	1216	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	343					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding	p.L343F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CGAATTAACTCTCCTTGGGAC	0.383000													11	193					0	0	0.000219431	0	0
ARSF	416	broad.mit.edu	37	X	3002495	3002495	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:3002495G>A	ENST00000381127.1	+	6	839	c.618G>A	c.(616-618)ggG>ggA	p.G206G	ARSF_ENST00000537104.1_Silent_p.G206G|ARSF_ENST00000359361.2_Silent_p.G206G	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	206						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TAACCTTTGGGAAGCTGAGCG	0.547000													4	34					0	0	0.00024832	0	0
CWH43	80157	broad.mit.edu	37	4	48996702	48996702	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:48996702C>T	ENST00000226432.4	+	5	761	c.578C>T	c.(577-579)cCc>cTc	p.P193L	CWH43_ENST00000513409.1_Missense_Mutation_p.P166L	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	193					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCCTCTAGACCCAACTGGCTG	0.478000													5	96					0	0	0.000602214	0	0
COL4A3	1285	broad.mit.edu	37	2	228149036	228149036	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:228149036G>A	ENST00000396578.3	+	34	3018	c.2856G>A	c.(2854-2856)ggG>ggA	p.G952G	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	952	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		ACGTAATAGGGGACAAAGGAG	0.473000													5	59					0	0	0.000157383	0	0
IGLV1-44	28823	broad.mit.edu	37	22	22735544	22735544	+	RNA	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:22735544G>A	ENST00000390297.2	+	0	295																											GCAGCTCCCAGGAACGGCCCC	0.577000													6	90					0	0	0.000274275	0	0
IGSF1	3547	broad.mit.edu	37	X	130409049	130409049	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:130409049A>T	ENST00000370904.1	-	23	4279	c.3369T>A	c.(3367-3369)taT>taA	p.Y1123*	IGSF1_ENST00000370903.3_Nonsense_Mutation_p.Y1137*|IGSF1_ENST00000361420.3_Nonsense_Mutation_p.Y1132*|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.Y1123*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1132	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AAACACAGCTATAGATCCCAG	0.512000													9	121					0	0	0.000442599	0	0
OR52E6	390078	broad.mit.edu	37	11	5862204	5862204	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:5862204G>A	ENST00000329322.5	-	1	923	c.924C>T	c.(922-924)ttC>ttT	p.F308F	OR52E6_ENST00000379946.2_Silent_p.F312F|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGTCTTGAAGAAAATCCTCA	0.443000													5	102					0	0	0.00116845	0	0
LAMP3	27074	broad.mit.edu	37	3	182870235	182870235	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:182870235C>T	ENST00000265598.3	-	3	1071	c.816G>A	c.(814-816)ggG>ggA	p.G272G	LAMP3_ENST00000466939.1_Silent_p.G248G	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	272					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TGCCACAGTTCCCAGAGGCTT	0.448000													16	263					0	0	0.00121646	0	0
MANSC1	54682	broad.mit.edu	37	12	12496068	12496068	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:12496068C>T	ENST00000535902.1	-	2	744	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	MANSC1_ENST00000396349.3_Missense_Mutation_p.E27K			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	61	MANSC.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATGCAGTCTTCTTGAGTTGAA	0.393000													6	103					0	0	0.00116845	0	0
CRISPLD2	83716	broad.mit.edu	37	16	84906671	84906671	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:84906671G>A	ENST00000262424.5	+	10	1279	c.1055G>A	c.(1054-1056)aGg>aAg	p.R352K	CRISPLD2_ENST00000564567.1_Missense_Mutation_p.R352K|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.R351K	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	352	LCCL 1.					extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GATATCACCAGGAACGGGAAG	0.572000													7	94					0	0	8.12818e-05	0	0
OR2A2	442361	broad.mit.edu	37	7	143807264	143807264	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:143807264G>A	ENST00000408979.2	+	1	658	c.589G>A	c.(589-591)Gtc>Atc	p.V197I		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TAACCAAGTGGTCATATTTGC	0.517000													10	147					0	0	0.00136819	0	0
QRICH2	84074	broad.mit.edu	37	17	74287761	74287761	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:74287761C>T	ENST00000262765.5	-	4	2728	c.2549G>A	c.(2548-2550)aGa>aAa	p.R850K		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	850							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTATTGTTCTCTGCCAGGAGG	0.478000													5	75					0	0	8.12818e-05	0	0
INPP5B	3633	broad.mit.edu	37	1	38357066	38357066	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:38357066G>A	ENST00000373023.2	-	8	926	c.833C>T	c.(832-834)tCc>tTc	p.S278F	INPP5B_ENST00000373024.3_Missense_Mutation_p.S198F|INPP5B_ENST00000373027.1_Missense_Mutation_p.S34F|INPP5B_ENST00000373026.1_Missense_Mutation_p.S278F	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	278					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGACCCCTGGAGCTTTGGTC	0.448000													9	200					0	0	0.000978159	0	0
SNRNP35	11066	broad.mit.edu	37	12	123950589	123950589	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:123950589T>A	ENST00000526639.2	+	2	1081	c.502T>A	c.(502-504)Ttg>Atg	p.L168M	SNRNP35_ENST00000412157.2_Missense_Mutation_p.L173M|SNRNP35_ENST00000350887.5_Missense_Mutation_p.L168M|SNRNP35_ENST00000527158.2_Intron	NM_022717.2	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	168	Arg-rich.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						ACCTATTAACTTGCCAGTTGT	0.542000													7	67					0	0	8.12818e-05	0	0
KRT74	121391	broad.mit.edu	37	12	52967109	52967109	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:52967109G>A	ENST00000549343.1	-	1	491	c.453C>T	c.(451-453)ttC>ttT	p.F151F	KRT74_ENST00000305620.2_Silent_p.F151F			Q7RTS7	K2C74_HUMAN	keratin 74	151	Coil 1A.|Rod.					keratin filament	structural molecule activity	p.F151F(1)		kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		TGAAGGAGGCGAACTTGTCGT	0.592000													7	85					0	0	8.12818e-05	0	0
KALRN	8997	broad.mit.edu	37	3	124044826	124044826	+	Splice_Site	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:124044826G>A	ENST00000360013.3	+	7	1213		c.e7-1		KALRN_ENST00000240874.3_Splice_Site|KALRN_ENST00000460856.1_Splice_Site	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TTTCTTTCCAGAATGCCTATG	0.517000													8	88					0	0	0.000157383	0	0
SLITRK4	139065	broad.mit.edu	37	X	142718516	142718516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:142718516G>A	ENST00000381779.4	-	2	634	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	SLITRK4_ENST00000356928.1_Nonsense_Mutation_p.Q137*|SLITRK4_ENST00000338017.4_Nonsense_Mutation_p.Q137*	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	137						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)					TAGTCAGCCTGGAGATACTCC	0.388000													8	78					0	0	0.000274275	0	0
CRYBA4	1413	broad.mit.edu	37	22	27019282	27019282	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:27019282G>A	ENST00000354760.3	+	3	159	c.124G>A	c.(124-126)Gag>Aag	p.E42K	CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	42	Beta/gamma crystallin 'Greek key' 1.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GCTTGGCTTCGAGACTGTGCG	0.602000													6	51					0	0	0.000157383	0	0
CDC45	8318	broad.mit.edu	37	22	19470342	19470342	+	Missense_Mutation	SNP	G	G	A	rs150749750		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:19470342G>A	ENST00000407835.1	+	5	590	c.334G>A	c.(334-336)Gat>Aat	p.D112N	CDC45_ENST00000404724.3_Intron|CDC45_ENST00000263201.1_Missense_Mutation_p.D112N|CDC45_ENST00000437685.2_Missense_Mutation_p.D112N|CDC45_ENST00000483431.1_3'UTR			O75419	CDC45_HUMAN	cell division cycle 45	112					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TGTATACAACGATACCCAGGT	0.413000													40	171					0	0	0.000781405	0	0
FAT3	120114	broad.mit.edu	37	11	92534320	92534320	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:92534320C>T	ENST00000298047.6	+	9	8158	c.8141C>T	c.(8140-8142)tCc>tTc	p.S2714F	FAT3_ENST00000525166.1_Missense_Mutation_p.S2564F|FAT3_ENST00000409404.2_Missense_Mutation_p.S2714F			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2714	Cadherin 25.				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)				TCTCAGTATTCCTTTACCATT	0.498000										TCGA Ovarian(4;0.039)			8	530					0	0	0.000673444	0	0
NEK2	4751	broad.mit.edu	37	1	211843679	211843679	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:211843679G>A	ENST00000366999.4	-	5	847	c.709C>T	c.(709-711)Cca>Tca	p.P237S	NEK2_ENST00000462283.1_5'UTR|NEK2_ENST00000366998.3_Missense_Mutation_p.P237S|NEK2_ENST00000540251.1_Missense_Mutation_p.P194S	NM_002497.3	NP_002488.1	P51955	NEK2_HUMAN	NIMA-related kinase 2	237	Protein kinase.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TAACGGTATGGAATTCGCCTG	0.373000													6	196					0	0	0.00116845	0	0
LECT2	3950	broad.mit.edu	37	5	135288572	135288572	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:135288572T>A	ENST00000274507.1	-	2	331	c.131A>T	c.(130-132)tAc>tTc	p.Y44F	LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000514447.2_Missense_Mutation_p.Y44F|LECT2_ENST00000522943.1_Missense_Mutation_p.Y44F|LECT2_ENST00000471827.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	44					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGAGCAGAGTACTGTCCACA	0.517000													8	181					0	0	0.000442599	0	0
NT5C3B	115024	broad.mit.edu	37	17	39987068	39987068	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:39987068G>A	ENST00000269534.8	-	6	466	c.365C>T	c.(364-366)tCc>tTc	p.S122F	NT5C3B_ENST00000435506.2_Missense_Mutation_p.S130F|NT5C3B_ENST00000521789.1_Missense_Mutation_p.S97F	NM_052935.4	NP_443167.4			5'-nucleotidase, cytosolic IIIB																		CATTGCATTGGACTCTCTAAC	0.443000													8	131					0	0	0.000978159	0	0
OR3A3	8392	broad.mit.edu	37	17	3324668	3324668	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:3324668G>A	ENST00000291231.1	+	1	807	c.807G>A	c.(805-807)atG>atA	p.M269I		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						TCAGCTACATGAGGCTGGGTT	0.517000													9	108					0	0	0.000442599	0	0
MXRA5	25878	broad.mit.edu	37	X	3241234	3241234	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:3241234G>A	ENST00000217939.6	-	5	2646	c.2492C>T	c.(2491-2493)cCt>cTt	p.P831L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	831						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)				TGTCTGCACAGGAGATGCTGA	0.498000													6	37					0	0	0.000157383	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011545	105011545	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:105011545G>A	ENST00000372582.1	+	11	2708	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E	IL1RAPL2_ENST00000538500.1_Missense_Mutation_p.G256E|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.G651E	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	651					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTACTCAACGGACAGCTACCC	0.458000													5	62					0	0	0.00116845	0	0
FAM24A	118670	broad.mit.edu	37	10	124671211	124671211	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:124671211G>A	ENST00000368894.1	+	2	182	c.61G>A	c.(61-63)Gtt>Att	p.V21I		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	21						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		CAGCTTACTGGTTGCCGCGAT	0.483000													8	305					0	0	0.000274275	0	0
MYH1	4619	broad.mit.edu	37	17	10398388	10398388	+	Missense_Mutation	SNP	C	C	T	rs141339850		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:10398388C>T	ENST00000226207.5	-	37	5420	c.5326G>A	c.(5326-5328)Gaa>Aaa	p.E1776K	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1776						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.E1776K(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTGTCCTGTTCCTTCTTCAGC	0.507000													6	146					0	0	8.12818e-05	0	0
SERPINB3	6317	broad.mit.edu	37	18	61324064	61324064	+	Splice_Site	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr18:61324064C>T	ENST00000283752.5	-	7	912		c.e7+1		SERPINB3_ENST00000332821.8_Intron|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3						regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CAAGTTCTTACCTTCTGGAGA	0.428000													6	137					0	0	0.000274275	0	0
FAM71B	153745	broad.mit.edu	37	5	156590528	156590528	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:156590528G>A	ENST00000302938.4	-	2	843	c.748C>T	c.(748-750)Cca>Tca	p.P250S		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	250	Ala-rich.					nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCGTGGATGGAGAAGCCGCA	0.582000													13	128					0	0	0.00136819	0	0
RP1L1	94137	broad.mit.edu	37	8	10465299	10465299	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:10465299G>A	ENST00000382483.3	-	4	6532	c.6309C>T	c.(6307-6309)gcC>gcT	p.A2103A		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2103					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)		CTGCCTCTGGGGCCTCTACAC	0.617000													7	122					0	0	8.12818e-05	0	0
TMIGD1	388364	broad.mit.edu	37	17	28652031	28652031	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:28652031T>C	ENST00000328886.4	-	4	515	c.443A>G	c.(442-444)aAc>aGc	p.N148S	TMIGD1_ENST00000538566.2_Missense_Mutation_p.N148S	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	148	Ig-like C2-type 2.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						AGCCTGGGGGTTGGCTTTCAC	0.443000													8	134					0	0	0.000442599	0	0
BPIFC	254240	broad.mit.edu	37	22	32828476	32828476	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:32828476C>T	ENST00000397452.1	-	11	1143	c.1033G>A	c.(1033-1035)Gag>Aag	p.E345K	BPIFC_ENST00000432451.2_Intron|BPIFC_ENST00000300399.3_Missense_Mutation_p.E345K|BPIFC_ENST00000534972.1_Missense_Mutation_p.E69K			Q8NFQ6	BPIL2_HUMAN	BPI fold containing family C	345						extracellular region	lipopolysaccharide binding|phospholipid binding										ATGGGAGGCTCTGTGGCCATG	0.488000													13	88					0	0	0.000422831	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:6426892C>T	ENST00000348035.4	+	2	298	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	29					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(1)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000													6	150					0	0	8.12818e-05	0	0
ATP8A2	51761	broad.mit.edu	37	13	26117517	26117517	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr13:26117517G>A	ENST00000381655.2	+	10	1010	c.868G>A	c.(868-870)Gga>Aga	p.G290R	ATP8A2_ENST00000255283.8_Missense_Mutation_p.G250R	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	250					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGTTTATACTGGACACGACAC	0.378000													7	176					0	0	0.000157383	0	0
ALOX5	240	broad.mit.edu	37	10	45891369	45891369	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:45891369G>A	ENST00000374391.2	+	3	469	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	ALOX5_ENST00000542434.1_Missense_Mutation_p.R139Q	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	139	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTGGAAACACGGCAAAAACAA	0.448000													4	29					0	0	0.00024832	0	0
MYH8	4626	broad.mit.edu	37	17	10296412	10296412	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:10296412G>A	ENST00000403437.2	-	36	5376	c.5282C>T	c.(5281-5283)gCc>gTc	p.A1761V	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1761					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCAGTGATGGCCTTCTTGGC	0.388000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	142					0	0	0.00136819	0	0
WEE2	494551	broad.mit.edu	37	7	141427191	141427191	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:141427191G>A	ENST00000397541.2	+	10	1886	c.1480G>A	c.(1480-1482)Gaa>Aaa	p.E494K	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	494					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GGGAAAAACAGAAGAGCTCCA	0.468000													9	148					0	0	0.00136819	0	0
KCNA1	3736	broad.mit.edu	37	12	5021671	5021671	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:5021671G>A	ENST00000382545.3	+	2	2234	c.1127G>A	c.(1126-1128)gGt>gAt	p.G376D	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	376					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTAGGATACGGTGACATGTAC	0.557000													8	174					0	0	0.000157383	0	0
ACTB	60	broad.mit.edu	37	7	5567494	5567494	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:5567494G>A	ENST00000331789.5	-	6	1204	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	338					'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)		GATCCACACGGAGTACTTGCG	0.617000													5	61					0	0	8.12818e-05	0	0
CBLB	868	broad.mit.edu	37	3	105422934	105422934	+	Silent	SNP	G	G	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:105422934G>C	ENST00000264122.4	-	11	1812	c.1491C>G	c.(1489-1491)ctC>ctG	p.L497L	CBLB_ENST00000405772.1_Silent_p.L497L|CBLB_ENST00000403724.1_Silent_p.L497L|CBLB_ENST00000394027.3_Silent_p.L519L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	497	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						GTGGGATCTGGAGTGGGTCAG	0.542000			Mis S		AML								5	138					0	0	0.000602214	0	0
INADL	10207	broad.mit.edu	37	1	62327314	62327314	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:62327314C>T	ENST00000371158.2	+	19	2528	c.2414C>T	c.(2413-2415)tCa>tTa	p.S805L	INADL_ENST00000316485.6_Missense_Mutation_p.S805L	NM_176877.2	NP_795352.2	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	805					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATATAAATTCATCTTTAATA	0.264000													9	213					0	0	0.000442599	0	0
STAG2	10735	broad.mit.edu	37	X	123205088	123205088	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:123205088C>T	ENST00000371160.1	+	25	2738	c.2448C>T	c.(2446-2448)acC>acT	p.T816T	STAG2_ENST00000371157.3_Silent_p.T816T|STAG2_ENST00000354548.5_Silent_p.T747T|STAG2_ENST00000371145.3_Silent_p.T816T|STAG2_ENST00000218089.9_Silent_p.T816T|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Silent_p.T816T			Q8N3U4	STAG2_HUMAN	stromal antigen 2	816					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAGTGTATACCCCTGATTCTT	0.373000													6	113					0	0	8.12818e-05	0	0
TACR3	6870	broad.mit.edu	37	4	104511113	104511113	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:104511113G>A	ENST00000304883.2	-	5	1264	c.1124C>T	c.(1123-1125)cCt>cTt	p.P375L	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	375						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTTGATGAAAGGACACCAGCG	0.448000													4	39					0	0	0.00024832	0	0
MEOX1	4222	broad.mit.edu	37	17	41738457	41738457	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:41738457G>A	ENST00000318579.4	-	1	865	c.446C>T	c.(445-447)tCc>tTc	p.S149F	MEOX1_ENST00000329168.3_Missense_Mutation_p.S149F|MEOX1_ENST00000393661.2_Missense_Mutation_p.S34F|MEOX1_ENST00000549132.1_Missense_Mutation_p.P120S	NM_001040002.1|NM_004527.3	NP_001035091.1|NP_004518.1	P50221	MEOX1_HUMAN	mesenchyme homeobox 1	149						nucleus	sequence-specific DNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0753)		TCTCCGCCTGGATGATTTCTT	0.577000													8	169					0	0	0.000978159	0	0
CD96	10225	broad.mit.edu	37	3	111368548	111368548	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:111368548G>A	ENST00000352690.4	+	14	1845	c.1605G>A	c.(1603-1605)atG>atA	p.M535I	CD96_ENST00000283285.5_Missense_Mutation_p.M551I	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	551					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTCCTAGAATGGAAAGACCTC	0.438000									Opitz Trigonocephaly syndrome				6	121					0	0	0.000157383	0	0
KIN	22944	broad.mit.edu	37	10	7816796	7816796	+	Silent	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:7816796T>C	ENST00000379562.3	-	7	713	c.666A>G	c.(664-666)tcA>tcG	p.S222S	KIN_ENST00000535925.1_Silent_p.S222S|KIN_ENST00000543003.1_Silent_p.S116S			O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)	222					DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						CAGCTCACCTTGACTTGGAAG	0.318000													8	185					0	0	0.000673444	0	0
ESRRB	2103	broad.mit.edu	37	14	76948978	76948978	+	Silent	SNP	G	G	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr14:76948978G>T	ENST00000380887.2	+	5	735	c.663G>T	c.(661-663)ccG>ccT	p.P221P	ESRRB_ENST00000261532.7_Silent_p.P221P|ESRRB_ENST00000556177.1_Silent_p.P221P|ESRRB_ENST00000509242.1_Silent_p.P221P			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	221						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGGCTGAGCCGGACAAGCTCT	0.567000													4	37					0.00116845	0.00981977	0.00116845	1	0
DISP1	84976	broad.mit.edu	37	1	223177256	223177256	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:223177256C>T	ENST00000284476.6	+	8	2681	c.2517C>T	c.(2515-2517)ttC>ttT	p.F839F		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	839					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCAAACATTCTTTTACCAGA	0.453000													9	390					0	0	0.000442599	0	0
NME9	347736	broad.mit.edu	37	3	138037049	138037049	+	Missense_Mutation	SNP	G	G	A	rs138728298		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:138037049G>A	ENST00000383180.2	-	6	379	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	NME9_ENST00000333911.3_Missense_Mutation_p.R70C|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Missense_Mutation_p.R48C|NME9_ENST00000536478.1_Missense_Mutation_p.R48C|NME9_ENST00000484930.1_Intron	NM_178130.2	NP_835231.1	Q86XW9	TXND6_HUMAN	NME/NM23 family member 9	70	Thioredoxin.				cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ACATCAAGACGATCTGCCTCT	0.473000													10	341					0	0	0.000219431	0	0
PLA2G7	7941	broad.mit.edu	37	6	46675832	46675832	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:46675832C>T	ENST00000274793.7	-	10	1132	c.936G>A	c.(934-936)caG>caA	p.Q312Q	PLA2G7_ENST00000537365.1_Silent_p.Q312Q	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	312					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			AAAAGAGGGGCTGAGGAATTC	0.338000													5	91					0	0	8.12818e-05	0	0
PCDHB4	56131	broad.mit.edu	37	5	140502642	140502642	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:140502642C>T	ENST00000194152.1	+	1	1062	c.1062C>T	c.(1060-1062)tcC>tcT	p.S354S		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		354	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCACCAGCTCCATCCCAGAAA	0.448000													7	155					0	0	0.000157383	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106070444	106070444	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:106070444C>T	ENST00000357242.5	+	7	1254	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	TBC1D8B_ENST00000276175.3_Silent_p.I360I|TBC1D8B_ENST00000481617.2_Silent_p.I360I|TBC1D8B_ENST00000310452.2_Silent_p.I360I	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	360						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AATCTGTCATCATTAGCATCA	0.388000													11	133					0	0	0.00136819	0	0
CDON	50937	broad.mit.edu	37	11	125888252	125888252	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:125888252G>A	ENST00000392693.3	-	5	740	c.613C>T	c.(613-615)Cct>Tct	p.P205S	CDON_ENST00000263577.7_Missense_Mutation_p.P205S	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	205					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CGGCCAATAGGTTCAACTTTT	0.383000													6	87					0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179438407	179438407	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:179438407C>T	ENST00000589042.1	-	326	72676	c.72452G>A	c.(72451-72453)gGa>gAa	p.G24151E	TTN_ENST00000591111.1_Missense_Mutation_p.G22510E|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G15086E|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G15278E|TTN_ENST00000359218.5_Missense_Mutation_p.G15211E|TTN_ENST00000342992.6_Missense_Mutation_p.G21583E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22510							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)			TTTGGCACCTCCATCATCCAG	0.443000													8	222					0	0	0.000442599	0	0
GRIK4	2900	broad.mit.edu	37	11	120776137	120776137	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:120776137G>A	ENST00000527524.2	+	13	1698	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	GRIK4_ENST00000438375.2_Missense_Mutation_p.G471S			Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	471					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGTTGGGGATGGCGTGTACGG	0.597000													6	83					0	0	0.000157383	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421872	153421872	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:153421872C>T	ENST00000369951.4	+	5	908	c.848C>T	c.(847-849)cCc>cTc	p.P283L	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	283					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCTGGGGACCCTACACCTTC	0.557000													13	103					0	0	0.00185496	0	0
BSCL2	26580	broad.mit.edu	37	11	62458874	62458874	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:62458874G>A	ENST00000433053.1	-	8	1439	c.883C>T	c.(883-885)Ccg>Tcg	p.P295S	BSCL2_ENST00000407022.3_Missense_Mutation_p.P231S|BSCL2_ENST00000405837.1_Missense_Mutation_p.P295S|BSCL2_ENST00000421906.1_Missense_Mutation_p.P231S|BSCL2_ENST00000278893.7_Intron|BSCL2_ENST00000403550.1_Missense_Mutation_p.P231S|RP11-831H9.16_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.P295S			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	231					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGGTCATCGGGAAGTTGTAT	0.522000													11	251					0	0	0.000978159	0	0
AHNAK	79026	broad.mit.edu	37	11	62297784	62297784	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:62297784G>A	ENST00000378024.4	-	5	4379	c.4105C>T	c.(4105-4107)Cca>Tca	p.P1369S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1369					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)				TCCACATCTGGAGCACTAATG	0.488000													9	227					0	0	0.000442599	0	0
SCN11A	11280	broad.mit.edu	37	3	38949572	38949572	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:38949572G>A	ENST00000302328.3	-	10	1539	c.1341C>T	c.(1339-1341)tcC>tcT	p.S447S	SCN11A_ENST00000444237.2_Silent_p.S447S|SCN11A_ENST00000450244.1_Silent_p.S447S|SCN11A_ENST00000456224.3_Silent_p.S447S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	447					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTTTCAAGGGAAGTAAGTG	0.388000													6	122					0	0	8.12818e-05	0	0
DISP1	84976	broad.mit.edu	37	1	223165393	223165393	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:223165393G>A	ENST00000284476.6	+	6	994	c.830G>A	c.(829-831)aGa>aAa	p.R277K	DISP1_ENST00000495684.1_3'UTR	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	277					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CATTATGAAAGAGAGAAAAGA	0.398000													10	347					0	0	0.000978159	0	0
ITGAM	3684	broad.mit.edu	37	16	31332869	31332869	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:31332869G>A	ENST00000544665.3	+	16	1997	c.1926G>A	c.(1924-1926)caG>caA	p.Q642Q	ITGAM_ENST00000287497.8_Silent_p.Q641Q	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	641					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						GTAATGATCAGGTGGTGAAAG	0.522000													8	160					0	0	0.000274275	0	0
SLC34A2	10568	broad.mit.edu	37	4	25671354	25671354	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:25671354C>T	ENST00000382051.3	+	7	771	c.721C>T	c.(721-723)Ctc>Ttc	p.L241F	SLC34A2_ENST00000504570.1_Missense_Mutation_p.L240F|SLC34A2_ENST00000503434.1_Missense_Mutation_p.L240F	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	241					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CACCCATTACCTCGAGATCAT	0.507000			T	ROS1	NSCLC								7	170					0	0	0.000157383	0	0
VIM	7431	broad.mit.edu	37	10	17278313	17278313	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:17278313C>T	ENST00000544301.1	+	9	1707	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	VIM_ENST00000224237.5_Missense_Mutation_p.P432S	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	432	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATTCACTCCCTCTGGTTGA	0.348000													6	232					0	0	0.000274275	0	0
C10orf12	26148	broad.mit.edu	37	10	98742291	98742291	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:98742291C>T	ENST00000286067.2	+	1	1251	c.1144C>T	c.(1144-1146)Cct>Tct	p.P382S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	382										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCCTCATTCTCCTCCTGAAAT	0.517000													7	62					0	0	8.12818e-05	0	0
RSPO2	340419	broad.mit.edu	37	8	108970310	108970310	+	Missense_Mutation	SNP	C	C	T	rs478185		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:108970310C>T	ENST00000276659.5	-	5	1234	c.614G>A	c.(613-615)gGa>gAa	p.G205E	RSPO2_ENST00000517939.1_Missense_Mutation_p.G138E|RSPO2_ENST00000517781.1_Missense_Mutation_p.G141E|RSPO2_ENST00000378439.2_Missense_Mutation_p.G141E	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	205					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			ACACCTACCTCCTGGACAATG	0.423000													6	122					0	0	0.000157383	0	0
ADH6	130	broad.mit.edu	37	4	100131343	100131343	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:100131343C>T	ENST00000394897.1	-	5	545	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000237653.7_Missense_Mutation_p.E155K|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000394899.2_Missense_Mutation_p.E155K|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	155					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	ACTGAGATTTCCTTTATCACT	0.433000													7	83					0	0	8.12818e-05	0	0
PCDHB16	57717	broad.mit.edu	37	5	140564127	140564127	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr5:140564127G>A	ENST00000361016.2	+	1	3148	c.1993G>A	c.(1993-1995)Ggc>Agc	p.G665S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		665	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGTGGACGGCTTCTCCCA	0.701000													5	51					0	0	0.000602214	0	0
PCED1B	91523	broad.mit.edu	37	12	47630006	47630006	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:47630006C>T	ENST00000546455.1	+	4	1891	c.1160C>T	c.(1159-1161)cCc>cTc	p.P387L	PCED1B_ENST00000432328.1_Missense_Mutation_p.P387L					PC-esterase domain containing 1B																		TTCCCCACACCCCGTTATCAG	0.567000													6	70					0	0	8.12818e-05	0	0
OR6V1	346517	broad.mit.edu	37	7	142749792	142749792	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:142749792G>A	ENST00000418316.1	+	1	376	c.355G>A	c.(355-357)Gat>Aat	p.D119N		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					CATGGCCCTTGATCGCTTTGT	0.582000													6	78					0	0	0.00116845	0	0
SYBU	55638	broad.mit.edu	37	8	110590212	110590212	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:110590212G>A	ENST00000399066.3	-	5	1487	c.760C>T	c.(760-762)Cat>Tat	p.H254Y	SYBU_ENST00000533065.1_Missense_Mutation_p.H138Y|SYBU_ENST00000408908.2_Missense_Mutation_p.H257Y|SYBU_ENST00000424158.2_Missense_Mutation_p.H262Y|SYBU_ENST00000533171.1_Missense_Mutation_p.H257Y|SYBU_ENST00000533895.1_Missense_Mutation_p.H256Y|SYBU_ENST00000532779.1_Missense_Mutation_p.H189Y|SYBU_ENST00000528647.1_Missense_Mutation_p.H256Y|SYBU_ENST00000433638.1_Missense_Mutation_p.H257Y|SYBU_ENST00000528331.1_Missense_Mutation_p.H138Y|SYBU_ENST00000529175.1_Missense_Mutation_p.H51Y|SYBU_ENST00000276646.9_Missense_Mutation_p.H257Y|SYBU_ENST00000408889.3_Missense_Mutation_p.H138Y|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000440310.1_Missense_Mutation_p.H257Y|SYBU_ENST00000422135.1_Missense_Mutation_p.H257Y|SYBU_ENST00000419099.1_Missense_Mutation_p.H256Y|SYBU_ENST00000529690.1_Missense_Mutation_p.H127Y|SYBU_ENST00000446070.2_Missense_Mutation_p.H256Y	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	257	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTGACACCATGATTTTCACCG	0.438000													8	169					0	0	0.000442599	0	0
INHBB	3625	broad.mit.edu	37	2	121106722	121106722	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:121106722G>A	ENST00000295228.3	+	2	542	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	166					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CATCTCCAACGAAGGCAACCA	0.582000													5	70					0	0	0.000602214	0	0
PSRC1	84722	broad.mit.edu	37	1	109824257	109824257	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:109824257G>C	ENST00000438534.2	-	4	641	c.503C>G	c.(502-504)cCc>cGc	p.P168R	PSRC1_ENST00000369909.2_Missense_Mutation_p.P168R|PSRC1_ENST00000369907.3_Missense_Mutation_p.P168R|PSRC1_ENST00000369903.2_Missense_Mutation_p.P168R|PSRC1_ENST00000409138.2_Missense_Mutation_p.P168R|PSRC1_ENST00000409267.1_Missense_Mutation_p.P168R|PSRC1_ENST00000369904.3_Missense_Mutation_p.P168R	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	168	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		CATGTTGGAGGGCCTCTTTCC	0.567000													5	165					0	0	0.000602214	0	0
AWAT1	158833	broad.mit.edu	37	X	69458154	69458154	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:69458154G>A	ENST00000374521.3	+	5	594	c.553G>A	c.(553-555)Gcc>Acc	p.A185T		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	185					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TGTGGGTGAGGCCCTGCAAAG	0.602000													5	23					0	0	0.000602214	0	0
PLEKHF2	79666	broad.mit.edu	37	8	96166327	96166327	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:96166327G>A	ENST00000315367.3	+	2	296	c.55G>A	c.(55-57)Gaa>Aaa	p.E19K	PLEKHF2_ENST00000519516.1_Missense_Mutation_p.E19K	NM_024613.3	NP_078889.1	Q9H8W4	PKHF2_HUMAN	pleckstrin homology domain containing, family F (with FYVE domain) member 2	19						transport vesicle	metal ion binding|protein binding			breast(1)|large_intestine(1)|lung(1)|ovary(2)	5	Breast(36;3.18e-05)					AAGTATAGTGGAAAACTGTTT	0.378000													12	483					0	0	0.000219431	0	0
PRDM1	639	broad.mit.edu	37	6	106554851	106554851	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:106554851G>A	ENST00000369096.4	+	7	2202	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	PRDM1_ENST00000369091.2_Silent_p.E620E|PRDM1_ENST00000369089.3_Silent_p.E522E	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	656					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		ATTCTGGAGAGAAACCATACC	0.557000			"""D, N, Mis, F, S"""		DLBCL								5	84					0	0	0.00116845	0	0
OR2A14	135941	broad.mit.edu	37	7	143826607	143826607	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:143826607C>T	ENST00000408899.2	+	1	457	c.402C>T	c.(400-402)ctC>ctT	p.L134L		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					ACAATAGCCTCATGAGCTGGA	0.517000													6	124					0	0	0.000157383	0	0
NOTCH4	4855	broad.mit.edu	37	6	32170211	32170211	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:32170211C>T	ENST00000375023.3	-	21	3535	c.3397G>A	c.(3397-3399)Ggc>Agc	p.G1133S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1133	EGF-like 29.				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						GGGCCACAGCCTTTAGGAGCT	0.647000													8	200					0	0	0.000978159	0	0
SV2B	9899	broad.mit.edu	37	15	91795126	91795126	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:91795126G>T	ENST00000394232.1	+	3	999	c.529G>T	c.(529-531)Gtc>Ttc	p.V177F	SV2B_ENST00000557291.1_3'UTR|SV2B_ENST00000330276.4_Missense_Mutation_p.V177F|SV2B_ENST00000545111.2_Missense_Mutation_p.V26F	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	177					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AAGGAAGCGAGTCCTCAGCAT	0.577000													13	274					4.36969e-10	3.69414e-09	0.00185496	1	0
SLC35F4	341880	broad.mit.edu	37	14	58060760	58060760	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr14:58060760G>A	ENST00000556826.1	-	2	422	c.186C>T	c.(184-186)tcC>tcT	p.S62S	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000339762.6_Silent_p.S98S	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGACAGTGGGGACAGTTGTC	0.478000													4	33					0	0	0.000602214	0	0
EGFL6	25975	broad.mit.edu	37	X	13624562	13624562	+	Silent	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:13624562T>C	ENST00000361306.1	+	6	842	c.585T>C	c.(583-585)ttT>ttC	p.F195F	EGFL6_ENST00000380602.3_Silent_p.F195F	NM_001167890.1|NM_015507.3	NP_001161362.1|NP_056322.2	Q8IUX8	EGFL6_HUMAN	EGF-like-domain, multiple 6	195	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						TGAACACATTTGGAAGCTACT	0.398000													7	65					0	0	8.12818e-05	0	0
ARHGEF16	27237	broad.mit.edu	37	1	3394499	3394499	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:3394499G>A	ENST00000378378.4	+	11	1939	c.1534G>A	c.(1534-1536)Gaa>Aaa	p.E512K	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.E224K|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.E224K|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.E216K	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	512	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GTTCTTAGTGGAAGAAACCGG	0.572000													5	55					0	0	0.00116845	0	0
KMT2E	55904	broad.mit.edu	37	7	104748158	104748158	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:104748158G>A	ENST00000334877.4	+	22	3788	c.3254G>A	c.(3253-3255)aGg>aAg	p.R1085K	KMT2E_ENST00000311117.3_Missense_Mutation_p.R1085K|KMT2E_ENST00000334914.7_Missense_Mutation_p.R140K|KMT2E_ENST00000257745.4_Missense_Mutation_p.R1085K					lysine (K)-specific methyltransferase 2E																		TCCAACTTGAGGGACCTGACA	0.498000													4	24					0	0	0.00024832	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43933475	43933475	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:43933475C>T	ENST00000282406.4	+	10	1851	c.1741C>T	c.(1741-1743)Ctt>Ttt	p.L581F		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	581						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTGCAACCCTTTCCTATAC	0.333000													10	493					0	0	0.000673444	0	0
MET	4233	broad.mit.edu	37	7	116339804	116339804	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:116339804G>A	ENST00000397752.3	+	2	866	c.666G>A	c.(664-666)acG>acA	p.T222T	MET_ENST00000318493.6_Silent_p.T222T|MET_ENST00000436117.2_Silent_p.T222T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	222	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAAAGGAAACGAAAGATGGTT	0.388000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				8	184					0	0	0.000274275	0	0
DZIP1L	199221	broad.mit.edu	37	3	137803020	137803020	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:137803020G>A	ENST00000327532.2	-	8	1500	c.1138C>T	c.(1138-1140)Cag>Tag	p.Q380*	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Nonsense_Mutation_p.Q380*	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	380						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GTGCTGATCTGGCACTGGGAC	0.602000													14	417					0	0	0.000308642	0	0
CELSR2	1952	broad.mit.edu	37	1	109793469	109793469	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:109793469C>T	ENST00000271332.3	+	1	829	c.768C>T	c.(766-768)gtC>gtT	p.V256V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	256	Cadherin 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GCACCCACGTCTTCAGGGTCA	0.582000													13	211					0	0	0.000308642	0	0
CWH43	80157	broad.mit.edu	37	4	48996774	48996774	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:48996774C>T	ENST00000226432.4	+	5	833	c.650C>T	c.(649-651)tCt>tTt	p.S217F	CWH43_ENST00000513409.1_Missense_Mutation_p.S190F	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	217					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GGAGAAGTCTCTCTTGTTTCC	0.547000													5	84					0	0	0.000602214	0	0
C4orf27	54969	broad.mit.edu	37	4	170671850	170671850	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:170671850G>A	ENST00000393381.2	-	3	310	c.235C>T	c.(235-237)Caa>Taa	p.Q79*		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	79						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		CCAACTAATTGAAGTCCAAGG	0.323000													8	176					0	0	0.000442599	0	0
EYS	346007	broad.mit.edu	37	6	66115156	66115156	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:66115156C>T	ENST00000503581.1	-	6	1504	c.967G>A	c.(967-969)Gga>Aga	p.G323R	EYS_ENST00000370618.3_Missense_Mutation_p.G323R|EYS_ENST00000393380.2_Missense_Mutation_p.G323R|EYS_ENST00000370621.3_Missense_Mutation_p.G323R|EYS_ENST00000370616.2_Missense_Mutation_p.G323R|EYS_ENST00000342421.5_Missense_Mutation_p.G323R	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	323					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						CTGGAAGATCCTTTTGGGCAT	0.378000													6	194					0	0	8.12818e-05	0	0
KIAA1407	57577	broad.mit.edu	37	3	113761579	113761579	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:113761579T>C	ENST00000295878.3	-	4	532	c.386A>G	c.(385-387)aAt>aGt	p.N129S	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	129										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CAAATGGCCATTGGCTTCCGG	0.348000													4	72					0	0	0.000602214	0	0
CTR9	9646	broad.mit.edu	37	11	10792099	10792099	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:10792099A>T	ENST00000361367.2	+	18	2718	c.2292A>T	c.(2290-2292)ttA>ttT	p.L764F		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	764					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGCAAAGATTAGCTACCTCTG	0.358000													7	164					0	0	0.000157383	0	0
C20orf24	55969	broad.mit.edu	37	20	35240480	35240480	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr20:35240480T>C	ENST00000342422.3	+	3	416	c.286T>C	c.(286-288)Tat>Cat	p.Y96H	C20orf24_ENST00000373852.5_3'UTR|C20orf24_ENST00000344795.3_3'UTR|TGIF2-C20orf24_ENST00000558530.1_3'UTR	NM_199483.2	NP_955777.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				AAGTGCTCCCTATCCAGTCCA	0.507000													7	229					0	0	0.000442599	0	0
MAP3K19	80122	broad.mit.edu	37	2	135740845	135740845	+	Silent	SNP	T	T	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:135740845T>C	ENST00000392915.1	-	9	3449	c.3330A>G	c.(3328-3330)gaA>gaG	p.E1110E	MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron					mitogen-activated protein kinase kinase kinase 19																		TTCTCCAAACTTCCAGTAACA	0.433000													9	103					0	0	0.000442599	0	0
SEPHS2	22928	broad.mit.edu	37	16	30455897	30455897	+	Silent	SNP	A	A	C			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:30455897A>C	ENST00000478753.2	-	1	1605	c.1152T>G	c.(1150-1152)gcT>gcG	p.A384A	SEPHS2_ENST00000542752.1_Silent_p.A327A|SEPHS2_ENST00000500504.2_Silent_p.A384A			Q99611	SPS2_HUMAN	selenophosphate synthetase 2	384					selenocysteine biosynthetic process		ATP binding|selenide, water dikinase activity			breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	10						AACAAAAGCGAGCCGCCTGTT	0.532000													6	71					0	0	8.12818e-05	0	0
DYRK3	8444	broad.mit.edu	37	1	206821877	206821877	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:206821877C>T	ENST00000367106.1	+	4	1747	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	DYRK3_ENST00000367109.2_Missense_Mutation_p.S445F|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367108.3_Missense_Mutation_p.S425F			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	445	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S445F(1)|p.S410F(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TTTATTAATTCCAAGGGCATA	0.547000													8	163					0	0	0.000274275	0	0
ACSM2B	348158	broad.mit.edu	37	16	20548635	20548635	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:20548635C>T	ENST00000329697.6	-	14	1847	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560Q|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481Q|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					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						AAGTTTGGTTCGTTGAATTTT	0.473000													9	204					0	0	0.000442599	0	0
SCAND3	114821	broad.mit.edu	37	6	28543645	28543645	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:28543645G>A	ENST00000452236.2	-	3	1454	c.837C>T	c.(835-837)atC>atT	p.I279I		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	279					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTGTACAAGGATAACATCAA	0.378000													8	140					0	0	0.000673444	0	0
CYLC1	1538	broad.mit.edu	37	X	83128266	83128266	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chrX:83128266G>A	ENST00000329312.4	+	4	587	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	184					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AACTAATCCAGAATCCCAAAA	0.308000													5	36					0	0	0.00116845	0	0
KDR	3791	broad.mit.edu	37	4	55960995	55960995	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:55960995G>A	ENST00000263923.4	-	21	3240	c.2945C>T	c.(2944-2946)tCc>tTc	p.S982F		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	982	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	ATCACTGAGGGACTTCTCCTC	0.517000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			6	118					0	0	0.00116845	0	0
CACNA2D1	781	broad.mit.edu	37	7	81600036	81600036	+	Missense_Mutation	SNP	C	C	T	rs79127167		TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:81600036C>T	ENST00000356860.3	-	27	2497	c.2159G>A	c.(2158-2160)cGa>cAa	p.R720Q	CACNA2D1_ENST00000535308.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R732Q	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	732						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)	CACAACAAATCGTGCTTTCAC	0.363000													9	149					0	0	0.00136819	0	0
SLC30A8	169026	broad.mit.edu	37	8	118159208	118159208	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:118159208G>A	ENST00000456015.2	+	2	87	c.87G>A	c.(85-87)caG>caA	p.Q29Q	SLC30A8_ENST00000427715.2_5'UTR|SLC30A8_ENST00000519688.1_5'UTR|SLC30A8_ENST00000521243.1_5'UTR|SLC30A8_ENST00000521035.1_3'UTR	NM_173851.2	NP_776250.2	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	29					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AACTCCAACAGAAACCGGTGA	0.512000													9	211					0	0	0.000673444	0	0
KCNH7	90134	broad.mit.edu	37	2	163279786	163279786	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:163279786C>T	ENST00000328032.4	-	8	2404	c.2193G>A	c.(2191-2193)atG>atA	p.M731I	KCNH7_ENST00000332142.5_Intron	NM_173162.2	NP_775185.1	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	0					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCTTTTATTCCATTTTGGCTA	0.418000													6	74					0	0	8.12818e-05	0	0
GRIA2	2891	broad.mit.edu	37	4	158257677	158257677	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:158257677C>T	ENST00000296526.7	+	11	1947	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L	GRIA2_ENST00000507898.1_Missense_Mutation_p.P494L|GRIA2_ENST00000264426.9_Missense_Mutation_p.P541L|GRIA2_ENST00000449365.1_Missense_Mutation_p.P494L|GRIA2_ENST00000393815.2_Missense_Mutation_p.P494L	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	541					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.L542fs*16(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TTTCTTGATCCTTTAGCCTAT	0.453000													9	139					0	0	0.000673444	0	0
HGD	3081	broad.mit.edu	37	3	120393815	120393815	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:120393815A>G	ENST00000283871.5	-	3	568	c.109T>C	c.(109-111)Tac>Cac	p.Y37H	HGD_ENST00000488183.1_5'UTR	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	37					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TAGAGATTGTAGGGGCAGACC	0.468000													10	170					0	0	0.00136819	0	0
TTC14	151613	broad.mit.edu	37	3	180327806	180327806	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr3:180327806C>T	ENST00000296015.4	+	12	1921	c.1789C>T	c.(1789-1791)Cca>Tca	p.P597S	TTC14_ENST00000465625.1_3'UTR|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000382584.4_Intron	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	597							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GTCTGAAGATCCAAGAGATTT	0.358000													8	364					0	0	0.000978159	0	0
ATP12A	479	broad.mit.edu	37	13	25281496	25281496	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr13:25281496G>A	ENST00000218548.6	+	17	2769	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	ATP12A_ENST00000381946.3_Silent_p.L806L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	806					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GCCCCTTTCTGATCTACATCA	0.502000													7	141					0	0	0.000274275	0	0
SLX4	84464	broad.mit.edu	37	16	3632512	3632512	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr16:3632512C>T	ENST00000294008.3	-	15	5976	c.5336G>A	c.(5335-5337)cGg>cAg	p.R1779Q	RP11-461A8.1_ENST00000573982.1_lincRNA	NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	1779	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CTGCAGCTCCCGCAGCTCAAA	0.652000								Direct reversal of damage					6	81					0	0	0.000157383	0	0
ZNF12	7559	broad.mit.edu	37	7	6737362	6737362	+	Silent	SNP	A	A	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:6737362A>G	ENST00000405858.1	-	3	637	c.96T>C	c.(94-96)acT>acC	p.T32T	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Silent_p.T32T|ZNF12_ENST00000404360.1_5'UTR	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	32	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CATCCCTGTAAGTTATCTTCT	0.473000													5	144					0	0	0.000602214	0	0
OR5L2	26338	broad.mit.edu	37	11	55594880	55594880	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:55594880C>T	ENST00000378397.1	+	1	186	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGTACTTTTTCCTCAGCCACT	0.463000										HNSCC(27;0.073)			9	157					0	0	0.000978159	0	0
FAT3	120114	broad.mit.edu	37	11	92616153	92616153	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr11:92616153G>A	ENST00000298047.6	+	23	12548	c.12531G>A	c.(12529-12531)aaG>aaA	p.K4177K	FAT3_ENST00000525166.1_Silent_p.K4027K|FAT3_ENST00000409404.2_Silent_p.K4177K|FAT3_ENST00000533797.1_Silent_p.K512K			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4177					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)				TCTTCCGCAAGAAGGTCTTCC	0.582000										TCGA Ovarian(4;0.039)			12	268					0	0	0.00185496	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139726	142139726	+	RNA	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:142139726C>T	ENST00000390374.3	-	0	89																											ACTCACCTGTCCCTAGGAAAC	0.527000													5	71					0	0	8.12818e-05	0	0
GBP7	388646	broad.mit.edu	37	1	89618021	89618021	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:89618021C>T	ENST00000294671.2	-	5	693	c.555G>A	c.(553-555)ctG>ctA	p.L185L		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	185						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		ACTTCAGCTCCAGGGTAAAAT	0.478000													9	116					0	0	0.000442599	0	0
ITGBL1	9358	broad.mit.edu	37	13	102227876	102227876	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr13:102227876G>A	ENST00000376180.3	+	4	784	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	ITGBL1_ENST00000545560.2_Missense_Mutation_p.E48K|ITGBL1_ENST00000376162.3_Missense_Mutation_p.E96K	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	189	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity	p.E189K(1)		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)					CATAGACGATGAAACAGAAGA	0.343000													7	161					0	0	0.000157383	0	0
BIRC6	57448	broad.mit.edu	37	2	32800289	32800289	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:32800289C>T	ENST00000421745.2	+	66	13345	c.13211C>T	c.(13210-13212)tCt>tTt	p.S4404F		NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4404					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCCATTGCTTCTTGTGCTGCC	0.463000													12	208					0	0	0.00185496	0	0
SLC29A3	55315	broad.mit.edu	37	10	73082715	73082715	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr10:73082715G>A	ENST00000373189.5	+	2	256	c.204G>A	c.(202-204)tgG>tgA	p.W68*		NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	68					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TACTGCCATGGAACTTCTTTA	0.592000													5	62					0	0	0.000602214	0	0
CEACAM20	125931	broad.mit.edu	37	19	45026930	45026930	+	RNA	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr19:45026930G>A	ENST00000454753.1	-	0	762							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				ATTTCAACAGGATCAGGACCA	0.463000													9	166					0	0	0.000442599	0	0
GPM6A	2823	broad.mit.edu	37	4	176594859	176594859	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr4:176594859G>A	ENST00000280187.7	-	4	404	c.359C>T	c.(358-360)aCc>aTc	p.T120I	GPM6A_ENST00000506894.1_Missense_Mutation_p.T109I|GPM6A_ENST00000515090.1_Missense_Mutation_p.T113I|GPM6A_ENST00000393658.2_Missense_Mutation_p.T120I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	120						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		GCCACAAGTGGTGATTTTGAA	0.433000													5	38					0	0	0.00116845	0	0
UTRN	7402	broad.mit.edu	37	6	145161899	145161899	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr6:145161899C>T	ENST00000367545.3	+	72	10201	c.10201C>T	c.(10201-10203)Ccg>Tcg	p.P3401S	UTRN_ENST00000367526.4_Missense_Mutation_p.P956S	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3401					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GCTGGCCCCACCGCACGACAC	0.507000													5	66					0	0	0.000157383	0	0
APOB	338	broad.mit.edu	37	2	21228104	21228104	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:21228104G>A	ENST00000233242.1	-	26	11763	c.11636C>T	c.(11635-11637)tCc>tTc	p.S3879F		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3879					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)	TGCTTGAAAGGAAGGAATGAC	0.458000													17	426					0	0	0.000566183	0	0
DPP10	57628	broad.mit.edu	37	2	116594124	116594124	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:116594124G>A	ENST00000410059.1	+	23	2572	c.2092G>A	c.(2092-2094)Gaa>Aaa	p.E698K	DPP10_ENST00000409163.1_Missense_Mutation_p.E648K|DPP10_ENST00000393147.2_Missense_Mutation_p.E702K|DPP10_ENST00000310323.8_Missense_Mutation_p.E691K	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	698					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						GCCATCTAAGGAAGAAAGCAC	0.328000													7	195					0	0	8.12818e-05	0	0
SYN3	8224	broad.mit.edu	37	22	33402622	33402622	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:33402622G>A	ENST00000358763.2	-	2	268	c.26C>T	c.(25-27)tCt>tTt	p.S9F	SYN3_ENST00000332840.5_Missense_Mutation_p.S9F	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	9	A.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GCTGCTGTCAGAGAGACGTCG	0.587000											OREG0003521	type=REGULATORY REGION|Gene=SYN3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	16	82					0	0	0.000422831	0	0
ZNF516	9658	broad.mit.edu	37	18	74091513	74091513	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr18:74091513G>A	ENST00000443185.2	-	4	2874	c.2557C>T	c.(2557-2559)Ccc>Tcc	p.P853S	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		ACTCCCAGGGGAGAAGAGCCA	0.632000													5	94					0	0	0.000602214	0	0
PPP1R3A	5506	broad.mit.edu	37	7	113518020	113518020	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:113518020C>T	ENST00000284601.3	-	4	3195	c.3127G>A	c.(3127-3129)Gaa>Aaa	p.E1043K		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1043					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						GATTCCTTTTCACCTGAAGTG	0.378000													13	193					0	0	0.000219431	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43933474	43933474	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:43933474C>T	ENST00000282406.4	+	10	1850	c.1740C>T	c.(1738-1740)acC>acT	p.T580T		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	580						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTGCTGCAACCCTTTCCTATA	0.333000													10	494					0	0	0.000673444	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854496	12854496	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:12854496C>T	ENST00000332296.7	+	3	823	c.720C>T	c.(718-720)tcC>tcT	p.S240S		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	240										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|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;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCGTTTTCTCCAGGTGCCATC	0.448000													9	299					0	0	0.000274275	0	0
COL5A2	1290	broad.mit.edu	37	2	189899755	189899755	+	Missense_Mutation	SNP	C	C	T	rs139229616	byFrequency	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr2:189899755C>T	ENST00000374866.3	-	53	4514	c.4240G>A	c.(4240-4242)Gat>Aat	p.D1414N		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1414	Fibrillar collagen NC1.				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)			TTAGCTTGATCGTCCATGTAT	0.383000													9	110					0	0	0.000673444	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:76074470A>G	ENST00000395215.3	+	0	649																		p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577000													4	26					0	0	0.000673444	0	0
ADAM30	11085	broad.mit.edu	37	1	120438863	120438863	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:120438863G>A	ENST00000369400.1	-	1	255	c.97C>T	c.(97-99)Cac>Tac	p.H33Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	33					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)		CCTTCAGGGTGAAAAATTACA	0.512000													8	327					0	0	0.000157383	0	0
WEE2	494551	broad.mit.edu	37	7	141416068	141416068	+	Splice_Site	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr7:141416068G>A	ENST00000397541.2	+	3	991		c.e3+1		WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)						egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GCCTGCCAAGGTAAGCGTAGT	0.453000													8	89					0	0	0.000673444	0	0
PLEKHG7	440107	broad.mit.edu	37	12	93139259	93139259	+	Silent	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr12:93139259C>T	ENST00000344636.3	+	5	391	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PLEKHG7_ENST00000549856.1_Silent_p.F69F	NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	69	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TGCAGTATTTCCGAGGGAGTC	0.443000													7	102					0	0	0.000157383	0	0
GTSE1	51512	broad.mit.edu	37	22	46725256	46725256	+	Splice_Site	SNP	C	C	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr22:46725256C>T	ENST00000454366.1	+	11	2140	c.1926_splice	c.e11-1	p.A643_splice		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	624					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGTACCCAGGCTCTTCTTGTA	0.522000													7	139					0	0	0.000157383	0	0
RB1CC1	9821	broad.mit.edu	37	8	53589059	53589059	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr8:53589059G>A	ENST00000025008.5	-	6	965	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	RB1CC1_ENST00000435644.2_Nonsense_Mutation_p.Q148*|RB1CC1_ENST00000539297.1_Nonsense_Mutation_p.Q148*|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	148					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				GCCCAGCCTTGGTGTTGAAGA	0.353000													5	72					0	0	0.000602214	0	0
HEXDC	284004	broad.mit.edu	37	17	80395108	80395108	+	Silent	SNP	G	G	A			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:80395108G>A	ENST00000337014.6	+	8	1242	c.768G>A	c.(766-768)aaG>aaA	p.K256K	HEXDC_ENST00000327949.9_Silent_p.K256K|HEXDC_ENST00000577944.1_Silent_p.K256K	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	256					carbohydrate metabolic process	cytoplasm|nucleus	beta-N-acetylhexosaminidase activity|cation binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GTGCCTTCAAGGGTGCCACGG	0.672000													10	99					0	0	0.000673444	0	0
PLCH2	9651	broad.mit.edu	37	1	2430086	2430087	+	Splice_Site	INS	-	-	GTGGGGGCC	rs142848828	by1000genomes	TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr1:2430086_2430087insGTGGGGGCC	ENST00000449969.1	+	17	2429	c.2268_splice	c.e17+1	p.E756_splice	PLCH2_ENST00000378483.2_Intron|PLCH2_ENST00000378486.3_Splice_Site_p.E783_splice|PLCH2_ENST00000378488.3_Splice_Site_p.E747_splice|PLCH2_ENST00000419816.2_Splice_Site_p.E783_splice|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	783	C2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E783_I784insVGA(1)|p.E630_I631insVGA(1)		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)		ACCGTGGGGAGGTGGGGGCCAG	0.703													2	4	---	---	---	---					
MGA	23269	broad.mit.edu	37	15	42003322	42003322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:42003322delC	ENST00000219905.7	+	8	3040	c.2859delC	c.(2857-2859)aafs	p.N953fs	MGA_ENST00000389936.4_Frame_Shift_Del_p.N953fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.N953fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.N953fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.N953fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	953						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AGGCGAATAACTTTGTTGTGC	0.438													7	164	---	---	---	---					
UBR1	197131	broad.mit.edu	37	15	43328430	43328430	+	Frame_Shift_Del	DEL	A	A	-			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr15:43328430delA	ENST00000290650.4	-	19	2214	c.2136delT	c.(2134-2136)ctfs	p.L712fs	UBR1_ENST00000382177.2_Frame_Shift_Del_p.L712fs	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	712					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CATACCTCTGAAGTACCAGTA	0.328													12	390	---	---	---	---					
UPF3AP2	147150	broad.mit.edu	37	17	20279654	20279655	+	RNA	INS	-	-	T			TCGA-ER-A1A1-06A-11D-A197-08	TCGA-ER-A1A1-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	036941fd-ef19-4c62-a255-6470614dbcd7	6c7d99e2-6b5c-43ff-9a02-dec5dd6618fd	g.chr17:20279654_20279655insT	ENST00000578315.1	-	0	51_52																											atctgtctctcttttttttttt	0.381													2	4	---	---	---	---