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
CCDC141	285025	broad.mit.edu	37	2	179702336	179702336	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179702336C>T	ENST00000420890.2	-	23	3727	c.3610G>A	c.(3610-3612)Gaa>Aaa	p.E1204K	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.E629K	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	629							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCATATTCTTCCCCTGAGAGC	0.567000													14	45					0	0	0.003163	0	0
CYP2C9	1559	broad.mit.edu	37	10	96698565	96698565	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:96698565C>T	ENST00000260682.6	+	1	138	c.126C>T	c.(124-126)atC>atT	p.I42I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	42					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TTGGAAATATCCTACAGATAG	0.433000													34	11					0	0	0.004289	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955429	18955429	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:18955429C>T	ENST00000302797.3	-	1	1127	c.903G>A	c.(901-903)gtG>gtA	p.V301V		NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	301					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CACCTTCATCCACCTCAGACG	0.552000													21	5					0	0	0.001216	0	0
OR6B1	135946	broad.mit.edu	37	7	143702018	143702018	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:143702018C>T	ENST00000408922.2	+	1	997	c.929C>T	c.(928-930)tCt>tTt	p.S310F		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCCAGCAGATCTGACTAGTCA	0.463000													7	12					0	0	0.003080	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110408344	110408344	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:110408344C>T	ENST00000378402.5	+	11	1004	c.900C>T	c.(898-900)ttC>ttT	p.F300F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	300	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGACAGATTTCCCCGTCAGAG	0.393000										HNSCC(38;0.096)			11	10					0	0	0.000978	0	0
SLAMF1	6504	broad.mit.edu	37	1	160604553	160604553	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:160604553G>A	ENST00000302035.6	-	3	899	c.550C>T	c.(550-552)Cca>Tca	p.P184S	SLAMF1_ENST00000538290.1_Missense_Mutation_p.P184S|SLAMF1_ENST00000235739.5_Missense_Mutation_p.P184S|SLAMF1_ENST00000355199.3_Missense_Mutation_p.P184S	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	184	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGTTCAGTGGGTGGGTGCCC	0.592000													45	20					0	0	0.002852	0	0
NPSR1	387129	broad.mit.edu	37	7	34698164	34698164	+	Missense_Mutation	SNP	C	C	T	rs116240309	byFrequency	TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:34698164C>T	ENST00000360581.1	+	1	268	c.140C>T	c.(139-141)tCc>tTc	p.S47F	NPSR1_ENST00000531252.1_Missense_Mutation_p.S47F|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000465305.1_Missense_Mutation_p.S47F|NPSR1_ENST00000381542.1_Missense_Mutation_p.S47F|NPSR1_ENST00000381553.3_Missense_Mutation_p.S47F|NPSR1_ENST00000381539.3_Missense_Mutation_p.S47F|NPSR1_ENST00000359791.1_Missense_Mutation_p.S47F|AC005493.1_ENST00000399077.1_Intron	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	47						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TTCTACTACTCCTTTAAGGTA	0.458000													18	18					0	0	0.001523	0	0
MUC16	94025	broad.mit.edu	37	19	9085016	9085016	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:9085016G>A	ENST00000397910.4	-	1	7002	c.6799C>T	c.(6799-6801)Cca>Tca	p.P2267S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2267	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						GTCTTTTCTGGGAAATGTGAG	0.433000													13	15					0	0	0.001368	0	0
NDUFB2	4708	broad.mit.edu	37	7	140402692	140402692	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:140402692C>T	ENST00000476279.1	+	2	199	c.125C>T	c.(124-126)cCc>cTc	p.P42L	NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000471136.1_Missense_Mutation_p.P30L|NDUFB2_ENST00000247866.4_Missense_Mutation_p.P42L|NDUFB2_ENST00000204307.5_Missense_Mutation_p.P32L|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000460088.1_5'UTR|NDUFB2_ENST00000475276.1_Missense_Mutation_p.P15L|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000465506.1_Missense_Mutation_p.P42L			O95178	NDUB2_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa	42					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1)	10	Melanoma(164;0.00956)				NADH(DB00157)	CACATTGAGCCCCGGTATAGA	0.522000													33	51					0	0	0.002445	0	0
OVGP1	5016	broad.mit.edu	37	1	111964047	111964047	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:111964047G>A	ENST00000369732.3	-	8	809	c.754C>T	c.(754-756)Ccc>Tcc	p.P252S	OVGP1_ENST00000481495.1_5'UTR|OVGP1_ENST00000540696.1_Intron	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	252					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TTCTCTGAGGGTGCCCCAAGC	0.532000													33	41					0	0	0.003755	0	0
CEP85L	387119	broad.mit.edu	37	6	118790464	118790464	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:118790464G>A	ENST00000368491.3	-	12	2646	c.2025C>T	c.(2023-2025)aaC>aaT	p.N675N	CEP85L_ENST00000368488.5_Silent_p.N678N	NM_001042475.2	NP_001035940.1	Q5SZL2	CF204_HUMAN	centrosomal protein 85kDa-like	675						centrosome											TTTGTCTTTGGTTCTGCAAGG	0.408000													47	10					0	0	0.003610	0	0
LRFN1	57622	broad.mit.edu	37	19	39805674	39805674	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:39805674G>A	ENST00000248668.4	-	1	302	c.303C>T	c.(301-303)atC>atT	p.I101I	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	101						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CCACCTGGCCGATGGTGTTCC	0.706000													4	5					0	0	0.001168	0	0
OR1F1	4992	broad.mit.edu	37	16	3255141	3255141	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:3255141G>A	ENST00000304646.2	+	1	895	c.895G>A	c.(895-897)Ggg>Agg	p.G299R	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GTACTTGAAAGGGGCTCTGAA	0.418000													44	32					0	0	0.002852	0	0
FBN3	84467	broad.mit.edu	37	19	8182136	8182136	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:8182136A>C	ENST00000600128.1	-	28	3917	c.3503T>G	c.(3502-3504)gTg>gGg	p.V1168G	FBN3_ENST00000601739.1_Missense_Mutation_p.V1168G|FBN3_ENST00000270509.2_Missense_Mutation_p.V1168G			Q75N90	FBN3_HUMAN	fibrillin 3	1168	EGF-like 16; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						AATACAGTGCACGTCACACCC	0.632000													14	18					0	0	0.006122	0	0
DLEC1	9940	broad.mit.edu	37	3	38149958	38149958	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:38149958C>T	ENST00000308059.6	+	21	3102	c.3081C>T	c.(3079-3081)ggC>ggT	p.G1027G	DLEC1_ENST00000346219.3_Silent_p.G1027G|DLEC1_ENST00000452631.2_Silent_p.G1027G			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1027					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GCCTGCTGGGCCCAAGTGAGG	0.567000													10	17					0	0	0.000978	0	0
SALL3	27164	broad.mit.edu	37	18	76757174	76757174	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:76757174C>T	ENST00000536229.3	+	3	3849	c.3140C>T	c.(3139-3141)cCt>cTt	p.P1047L	SALL3_ENST00000575389.2_Missense_Mutation_p.P1180L|SALL3_ENST00000537592.2_Missense_Mutation_p.P1252L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCCCTCCCCCCTCTGGGCAGC	0.627000													26	61					0	0	0.004656	0	0
KIF3B	9371	broad.mit.edu	37	20	30919052	30919052	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:30919052C>T	ENST00000375712.3	+	9	2341	c.2174C>T	c.(2173-2175)tCc>tTc	p.S725F	KIF3B_ENST00000418717.2_Missense_Mutation_p.S351F	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	725	Globular.|Poly-Ser.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAGTCGGGATCCTCCTCCTCT	0.493000													42	56					0	0	0.003610	0	0
KLHL11	55175	broad.mit.edu	37	17	40010189	40010189	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:40010189G>A	ENST00000319121.3	-	2	1990	c.1930C>T	c.(1930-1932)Ctt>Ttt	p.L644F		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	644						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				ATAGGAGGAAGAAGCATCCAC	0.468000													21	40					0	0	0.001523	0	0
ZFP42	132625	broad.mit.edu	37	4	188924602	188924602	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:188924602C>T	ENST00000326866.4	+	4	1049	c.641C>T	c.(640-642)cCc>cTc	p.P214L	ZFP42_ENST00000509524.1_Missense_Mutation_p.P214L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	214					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ATTCATGGTCCCCGAGACCAC	0.502000													32	29					0	0	0.002836	0	0
ZNF407	55628	broad.mit.edu	37	18	72775833	72775833	+	Silent	SNP	C	C	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:72775833C>G	ENST00000299687.5	+	8	6156	c.6156C>G	c.(6154-6156)gcC>gcG	p.A2052A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2052					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A2052A(1)		central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCCCGGCCGCCGTGGAGGTGC	0.677000													10	15					0	0	0.000673	0	0
UBD	10537	broad.mit.edu	37	6	29524029	29524029	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:29524029C>T	ENST00000377050.4	-	2	349	c.126G>A	c.(124-126)aaG>aaA	p.K42K	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	42	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						GCACAGGAACCTTGGTCTTAG	0.473000													28	34					0	0	0.001512	0	0
DEFB121	245934	broad.mit.edu	37	20	29993946	29993946	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:29993946G>A	ENST00000376314.2	-	1	123	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	DEFB121_ENST00000376312.3_Intron	NM_001011878.2	NP_001011878.1	Q5J5C9	DB121_HUMAN	defensin, beta 121	4					defense response to bacterium	extracellular region				large_intestine(1)|lung(1)	2	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCAGAAGAAGGAGCTTCATG	0.493000													15	27					0	0	0.003163	0	0
MEGF6	1953	broad.mit.edu	37	1	3414996	3414996	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:3414996A>C	ENST00000356575.4	-	26	3517	c.3291T>G	c.(3289-3291)tgT>tgG	p.C1097W	MEGF6_ENST00000294599.4_Missense_Mutation_p.C906W	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1097	EGF-like 20.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TGTGCGGGTCACACAGGCCCC	0.721000													3	4					0	0	0.000248	0	0
EFCAB3	146779	broad.mit.edu	37	17	60483897	60483897	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:60483897C>T	ENST00000450662.2	+	9	772	c.701C>T	c.(700-702)aCt>aTt	p.T234I	EFCAB3_ENST00000305286.3_Missense_Mutation_p.T182I	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	182							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AGTCCCTACACTATGGGCTAT	0.408000													20	6					0	0	0.001523	0	0
TRIO	7204	broad.mit.edu	37	5	14488291	14488291	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:14488291C>T	ENST00000344204.4	+	48	7578	c.7554C>T	c.(7552-7554)gcC>gcT	p.A2518A	TRIO_ENST00000537187.1_Intron	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2518					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCACGCGGCCCCTGGCAAGG	0.721000													7	4					0	0	0.001984	0	0
CALCR	799	broad.mit.edu	37	7	93055823	93055823	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:93055823G>A	ENST00000359558.2	-	16	1671	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	CALCR_ENST00000360249.4_Missense_Mutation_p.R440C|CALCR_ENST00000394441.1_Missense_Mutation_p.R424C|CALCR_ENST00000426151.1_Missense_Mutation_p.R424C|CALCR_ENST00000421592.1_Missense_Mutation_p.R440C	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	440					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CGAGCAGAGCGGTTGGAGGGG	0.582000													23	37					0	0	0.002780	0	0
KCTD8	386617	broad.mit.edu	37	4	44177195	44177195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:44177195C>T	ENST00000360029.3	-	2	1317	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	345						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACTTTCACTTCCTTTATCAGT	0.443000										HNSCC(17;0.042)			17	11					0	0	0.004007	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077408	32077408	+	RNA	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:32077408G>A	ENST00000354689.6	+	0	23				RP11-1166P10.6_ENST00000566806.1_RNA																							GTGGAGTCTGGAGGAGGCTTG	0.562000													7	128					0	0	0.004482	0	0
RAB19	401409	broad.mit.edu	37	7	140110844	140110844	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:140110844A>C	ENST00000275874.5	+	3	471	c.273A>C	c.(271-273)caA>caC	p.Q91H	RAB19_ENST00000356407.3_Intron|RAB19_ENST00000537763.1_Intron			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	67					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TGAGCCCCCAAATCTGGACCA	0.502000													18	50					0	0	0.001216	0	0
ADCY10	55811	broad.mit.edu	37	1	167839635	167839635	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:167839635C>T	ENST00000367848.1	-	14	1697	c.1200G>A	c.(1198-1200)gaG>gaA	p.E400E	ADCY10_ENST00000545172.1_Silent_p.E339E|ADCY10_ENST00000367851.4_Silent_p.E492E			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	492	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.E492D(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AGTAGTTGATCTCTTTATTAC	0.318000													9	13					0	0	0.000443	0	0
BRD7	29117	broad.mit.edu	37	16	50388812	50388812	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:50388812G>A	ENST00000394688.3	-	3	439	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BRD7_ENST00000394689.2_Nonsense_Mutation_p.R94*|BRD7_ENST00000401491.3_5'UTR			Q9NPI1	BRD7_HUMAN	bromodomain containing 7	94					cell cycle|negative regulation of cell proliferation|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				ACCCGGTCTCGATCTCGCTTC	0.403000													60	16					0	0	0.003610	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471960	47471960	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:47471960G>A	ENST00000266581.4	-	2	1292	c.826C>T	c.(826-828)Cag>Tag	p.Q276*	AMIGO2_ENST00000429635.1_Nonsense_Mutation_p.Q276*|AMIGO2_ENST00000550413.1_Nonsense_Mutation_p.Q276*|AMIGO2_ENST00000321382.3_Nonsense_Mutation_p.Q276*	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	276	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AAGCTATCCTGGAGCAGAAGT	0.488000													25	2					0	0	0.004656	0	0
DEFA3	1668	broad.mit.edu	37	8	6873614	6873614	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:6873614C>T	ENST00000327857.2	-	3	274	c.183G>A	c.(181-183)agG>agA	p.R61R	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)		CCATGTTTTTCCTTGAGCCTG	0.493000													41	10					0	0	0.002852	0	0
IL10RB	3588	broad.mit.edu	37	21	34660417	34660417	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:34660417C>T	ENST00000290200.2	+	6	763	c.655C>T	c.(655-657)Ccc>Tcc	p.P219S		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						AGAAACGGTCCCCTCCTGGAT	0.542000													54	105					0	0	0.003610	0	0
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458000	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			77	53					0	0	0.003610	0	0
SLC6A18	348932	broad.mit.edu	37	5	1246071	1246071	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:1246071C>T	ENST00000324642.3	+	12	1888	c.1765C>T	c.(1765-1767)Cag>Tag	p.Q589*		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	589					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGCGCTTGCTCAGCTGCTCAC	0.731000													9	5					0	0	0.004482	0	0
CA9	768	broad.mit.edu	37	9	35676143	35676143	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:35676143G>A	ENST00000378357.4	+	4	791	c.687G>A	c.(685-687)tgG>tgA	p.W229*		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	229	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCTGCACTGGGGGGCTGCAG	0.682000													14	8					0	0	0.002450	0	0
SUCLG1	8802	broad.mit.edu	37	2	84670433	84670433	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:84670433A>G	ENST00000393868.2	-	3	503	c.293T>C	c.(292-294)tTa>tCa	p.L98S		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	98					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	AAAGACAGGTAAGCCCAGATG	0.493000													41	40					0	0	0.003610	0	0
COL4A2	1284	broad.mit.edu	37	13	111141854	111141854	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:111141854C>T	ENST00000360467.5	+	35	3576	c.3271_splice	c.e35+1	p.F1090_splice		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1090	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.F1090F(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGGTGATTTCGGTGAGTGTT	0.507000													35	63					0	0	0.004878	0	0
ATP7B	540	broad.mit.edu	37	13	52544780	52544780	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:52544780C>T	ENST00000242839.4	-	3	1547	c.1391G>A	c.(1390-1392)gGg>gAg	p.G464E	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Missense_Mutation_p.G464E|ATP7B_ENST00000344297.5_Missense_Mutation_p.G464E|ATP7B_ENST00000418097.2_Missense_Mutation_p.G464E|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Missense_Mutation_p.G353E|ATP7B_ENST00000542656.1_Missense_Mutation_p.G432E	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	464					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		AGGGAGCCTCCCAGTGTGGGG	0.527000									Wilson disease				56	74					0	0	0.003610	0	0
C2orf71	388939	broad.mit.edu	37	2	29296844	29296844	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:29296844C>T	ENST00000331664.5	-	1	283	c.284G>A	c.(283-285)gGa>gAa	p.G95E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	95					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGTTTTGGTTCCTGGGATCAG	0.493000													39	76					0	0	0.003214	0	0
MED15	51586	broad.mit.edu	37	22	20937220	20937220	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:20937220C>T	ENST00000263205.7	+	11	1572	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	MED15_ENST00000425759.2_Silent_p.F350F|MED15_ENST00000406969.1_Silent_p.F435F|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Silent_p.F390F|MED15_ENST00000541476.1_Silent_p.F435F|MED15_ENST00000292733.7_Silent_p.F461F|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	501	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CACAGAACTTCAGTGTCCCCT	0.612000													9	28					0	0	0.000443	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122146	43122146	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:43122146A>C	ENST00000344697.2	-	2	1123	c.778T>G	c.(778-780)Tca>Gca	p.S260A	GTDC2_ENST00000441964.1_Missense_Mutation_p.S260A	NM_032806.4	NP_116195.2																					TCATTGCCTGAGACGAGGATG	0.552000													29	28					0	0	0.001512	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89327136	89327136	+	RNA	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:89327136G>A	ENST00000483158.1	-	0	92																											CCCTCACCTGGGAGCCAGAGT	0.483000													27	31					0	0	0.001786	0	0
KANK2	25959	broad.mit.edu	37	19	11283753	11283753	+	Silent	SNP	A	A	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:11283753A>G	ENST00000432929.2	-	10	2499	c.2139T>C	c.(2137-2139)atT>atC	p.I713I	KANK2_ENST00000589894.1_Silent_p.I705I|KANK2_ENST00000589359.1_Silent_p.I713I|KANK2_ENST00000355150.5_Silent_p.I705I|KANK2_ENST00000586659.1_Silent_p.I705I	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	705										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CGGTGAGCATAATAGGGCTGT	0.567000													23	15					0	0	0.003330	0	0
SDPR	8436	broad.mit.edu	37	2	192701257	192701257	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:192701257C>T	ENST00000304141.4	-	2	999	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	224						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTACTTTCTTCCACCTTTTCC	0.483000													25	66					0	0	0.003954	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290508	132290508	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:132290508C>T	ENST00000295171.6	+	6	1086	c.948C>T	c.(946-948)ccC>ccT	p.P316P	CCDC74A_ENST00000467992.2_3'UTR|CCDC74A_ENST00000409856.3_Silent_p.P250P	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	316										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CTAGCTTTCCCAGGTGAGTGC	0.647000													13	35					0	0	0.006122	0	0
LIMCH1	22998	broad.mit.edu	37	4	41673605	41673605	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:41673605G>A	ENST00000313860.7	+	17	2331	c.2277G>A	c.(2275-2277)atG>atA	p.M759I	LIMCH1_ENST00000396595.3_Missense_Mutation_p.M605I|LIMCH1_ENST00000508501.1_Missense_Mutation_p.M759I|LIMCH1_ENST00000381753.4_Missense_Mutation_p.M593I|LIMCH1_ENST00000512946.1_Missense_Mutation_p.M759I|LIMCH1_ENST00000512632.1_Intron|LIMCH1_ENST00000511496.1_Missense_Mutation_p.M600I|LIMCH1_ENST00000513024.1_Missense_Mutation_p.M613I|LIMCH1_ENST00000503057.1_Missense_Mutation_p.M1144I|LIMCH1_ENST00000512820.1_Missense_Mutation_p.M772I|LIMCH1_ENST00000514096.1_Missense_Mutation_p.M600I|LIMCH1_ENST00000509277.1_Missense_Mutation_p.M593I	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	759			M -> T (in dbSNP:rs11734372).		actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CACCTGTTATGACACCTGTAA	0.333000													13	20					0	0	0.004007	0	0
KCNK2	3776	broad.mit.edu	37	1	215260014	215260014	+	Missense_Mutation	SNP	T	T	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:215260014T>G	ENST00000444842.2	+	2	500	c.350T>G	c.(349-351)cTc>cGc	p.L117R	KCNK2_ENST00000391894.2_Missense_Mutation_p.L102R|KCNK2_ENST00000391895.2_Missense_Mutation_p.L113R	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	117							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CTGGATGAACTCATTCAGGTA	0.458000													51	49					0	0	0.003610	0	0
ADAMTS10	81794	broad.mit.edu	37	19	8661232	8661232	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:8661232G>A	ENST00000270328.4	-	9	1415	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	ADAMTS10_ENST00000597188.1_Silent_p.G383G			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	383	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGTGGCCAGGCCAATGTCCT	0.672000													5	11					0	0	0.000602	0	0
SVEP1	79987	broad.mit.edu	37	9	113276374	113276374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:113276374C>T	ENST00000401783.2	-	4	1313	c.977G>A	c.(976-978)gGg>gAg	p.G326E	SVEP1_ENST00000374461.1_Missense_Mutation_p.G303E|SVEP1_ENST00000374469.1_Missense_Mutation_p.G303E|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Missense_Mutation_p.G326E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	326					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						TTTGTATGTCCCCGATGGGCA	0.478000													5	12					0	0	0.000602	0	0
RELB	5971	broad.mit.edu	37	19	45515450	45515450	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:45515450C>T	ENST00000221452.8	+	4	570	c.420C>T	c.(418-420)ttC>ttT	p.F140F	RELB_ENST00000540120.1_Silent_p.F140F|RELB_ENST00000505236.1_Silent_p.F137F	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	140	RHD.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GCATGCGCTTCCGCTACGAGT	0.751000													9	21					0	0	0.000443	0	0
RHPN1	114822	broad.mit.edu	37	8	144463852	144463852	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:144463852C>T	ENST00000289013.6	+	13	1700	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	558					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			ACTCGCCTGTCCTCATCGCTG	0.697000													16	8					0	0	0.004990	0	0
MAGEE2	139599	broad.mit.edu	37	X	75003330	75003330	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:75003330G>A	ENST00000373359.2	-	1	1749	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	519										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGGGTCAAGGAAAAACATGA	0.458000													16	3					0	0	0.006122	0	0
POTEE	445582	broad.mit.edu	37	2	131976013	131976013	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:131976013C>T	ENST00000356920.5	+	1	132	c.38C>T	c.(37-39)tCt>tTt	p.S13F	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.S13F	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	13							ATP binding										GCTGCCTCTTCTGTGAAGAAG	0.542000													28	31					0	0	0.001485	0	0
HEXDC	284004	broad.mit.edu	37	17	80400218	80400218	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:80400218G>A	ENST00000337014.6	+	12	1982	c.1508G>A	c.(1507-1509)tGc>tAc	p.C503Y	HEXDC_ENST00000327949.9_Silent_p.L473L|HEXDC_ENST00000577944.1_Missense_Mutation_p.A476T	NM_173620.2	NP_775891.2	Q8WVB3	HEXDC_HUMAN	hexosaminidase (glycosyl hydrolase family 20, catalytic domain) containing	0					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)			CCCCCCCGCTGCCACCCACCA	0.692000													6	17					0	0	0.001168	0	0
TET3	200424	broad.mit.edu	37	2	74328099	74328099	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:74328099C>T	ENST00000409262.3	+	9	3779	c.3779C>T	c.(3778-3780)tCc>tTc	p.S1260F		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1260							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TACAACAGATCCATCAAGCAA	0.602000													4	8					0	0	0.000248	0	0
ATP2B2	491	broad.mit.edu	37	3	10387777	10387777	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:10387777C>T	ENST00000397077.1	-	16	2889	c.2314G>A	c.(2314-2316)Gtg>Atg	p.V772M	ATP2B2_ENST00000383800.4_Missense_Mutation_p.V772M|ATP2B2_ENST00000360273.2_Missense_Mutation_p.V817M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.V817M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.V803M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	817					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCCCCGTCACGGCCACCACC	0.687000													8	17					0	0	0.000443	0	0
TRIM54	57159	broad.mit.edu	37	2	27505713	27505713	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:27505713G>A	ENST00000296098.4	+	1	384	c.114G>A	c.(112-114)gtG>gtA	p.V38V	TRIM54_ENST00000380075.2_Silent_p.V38V	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	38					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCAGTGGTGATCCTGCCCT	0.587000													70	75					0	0	0.003610	0	0
ABCB4	5244	broad.mit.edu	37	7	87056159	87056159	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:87056159G>A	ENST00000265723.4	-	16	2082	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	ABCB4_ENST00000359206.3_Silent_p.G657G|ABCB4_ENST00000358400.3_Silent_p.G657G|ABCB4_ENST00000545634.1_Silent_p.G657G|ABCB4_ENST00000453593.1_Silent_p.G657G	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	657					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					GAGATTTCCAGCCATTTGGGG	0.393000													20	19					0	0	0.000958	0	0
PDE11A	50940	broad.mit.edu	37	2	178879172	178879172	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:178879172C>T	ENST00000286063.5	-	2	1245	c.928G>A	c.(928-930)Gat>Aat	p.D310N	PDE11A_ENST00000358450.4_Missense_Mutation_p.D60N	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	310	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCGATTTCATCATTGAATCGT	0.393000									Primary Pigmented Nodular Adrenocortical Disease, Familial				7	18					0	0	0.001984	0	0
EML5	161436	broad.mit.edu	37	14	89163205	89163205	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:89163205G>A	ENST00000554922.1	-	15	2578	c.2330C>T	c.(2329-2331)gCc>gTc	p.A777V	EML5_ENST00000352093.5_Missense_Mutation_p.A777V|EML5_ENST00000380664.5_Missense_Mutation_p.A777V	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	777						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GAAATCAACGGCACTAACACC	0.393000													17	3					0	0	0.000958	0	0
NYNRIN	57523	broad.mit.edu	37	14	24885032	24885032	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:24885032C>T	ENST00000382554.3	+	9	4395	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1359					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGCCGTGGCCTGCGGCCTGG	0.617000													41	11					0	0	0.001485	0	0
CCBL2	56267	broad.mit.edu	37	1	89414899	89414899	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:89414899A>C	ENST00000260508.4	-	11	1353	c.1016T>G	c.(1015-1017)tTt>tGt	p.F339C	CCBL2_ENST00000370491.3_Missense_Mutation_p.F305C|CCBL2_ENST00000370485.2_3'UTR|CCBL2_ENST00000446900.2_5'UTR	NM_001008661.2	NP_001008661.1	Q6YP21	KAT3_HUMAN	cysteine conjugate-beta lyase 2	339					biosynthetic process|kynurenine metabolic process|tryptophan catabolic process		cysteine-S-conjugate beta-lyase activity|kynurenine-glyoxylate transaminase activity|kynurenine-oxoglutarate transaminase activity|pyridoxal phosphate binding			endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|ovary(2)|skin(2)|soft_tissue(1)	18		Lung NSC(277;0.123)		all cancers(265;0.0117)|Epithelial(280;0.0341)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAAAGAATTAAAGTAACATTC	0.388000													12	19					0	0	0.001368	0	0
BSN	8927	broad.mit.edu	37	3	49688503	49688503	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:49688503G>A	ENST00000296452.4	+	4	2091	c.1977G>A	c.(1975-1977)ggG>ggA	p.G659G		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	659					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCAAGGGTGGGGAGGCGGAGG	0.597000													10	10					0	0	0.000443	0	0
SLC34A2	10568	broad.mit.edu	37	4	25669533	25669533	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:25669533C>T	ENST00000382051.3	+	6	605	c.555C>T	c.(553-555)atC>atT	p.I185I	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000503434.1_Silent_p.I184I|SLC34A2_ENST00000504570.1_Silent_p.I184I	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	185					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)				TCCCCATTATCATGGGGGCCA	0.502000			T	ROS1	NSCLC								18	16					0	0	0.001216	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138586	126138586	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:126138586G>A	ENST00000299308.3	+	9	2575	c.2567G>A	c.(2566-2568)gGg>gAg	p.G856E	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G368E	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	856						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		CCCATGGAAGGGAAGAATAAG	0.517000													21	2					0	0	0.001216	0	0
SLC33A1	9197	broad.mit.edu	37	3	155571628	155571628	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:155571628C>T	ENST00000392845.2	-	1	539	c.159G>A	c.(157-159)ctG>ctA	p.L53L	SLC33A1_ENST00000359479.3_Silent_p.L53L	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	53					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CGGTATCCCCCAGAAGAGCTT	0.562000													19	46					0	0	0.002780	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50682732	50682732	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:50682732C>T	ENST00000439308.2	-	1	649	c.157G>A	c.(157-159)Gag>Aag	p.E53K	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.E53K	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	53					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGTTGAGTCTCATCTTGAAAA	0.522000													28	28					0	0	0.001786	0	0
FAM83F	113828	broad.mit.edu	37	22	40417843	40417843	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:40417843C>T	ENST00000333407.5	+	4	1423	c.1329C>T	c.(1327-1329)ttC>ttT	p.F443F	FAM83F_ENST00000473717.1_3'UTR	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	443										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GCAGGCTCTTCAGTCGCCGAG	0.672000													11	17					0	0	0.000978	0	0
MYBBP1A	10514	broad.mit.edu	37	17	4443768	4443768	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:4443768C>T	ENST00000254718.4	-	25	3615	c.3309G>A	c.(3307-3309)ttG>ttA	p.L1103L	MYBBP1A_ENST00000381556.2_Silent_p.L1103L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1103					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						CCGTCAGGTCCAAGGTCAGCT	0.677000													13	16					0	0	0.000958	0	0
MTOR	2475	broad.mit.edu	37	1	11300438	11300438	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:11300438G>A	ENST00000361445.4	-	11	1784	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	570					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGGGTCGTGAGGCCAGGAGAG	0.572000													31	24					0	0	0.001512	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110464962	110464962	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:110464962C>T	ENST00000378402.5	+	43	6627	c.6523C>T	c.(6523-6525)Ctt>Ttt	p.L2175F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2175	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCTGACTTTCTTTATGTTGA	0.358000										HNSCC(38;0.096)			4	8					0	0	0.000248	0	0
GRPR	2925	broad.mit.edu	37	X	16142206	16142206	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:16142206C>T	ENST00000380289.2	+	1	528	c.130C>T	c.(130-132)Cct>Tct	p.P44S		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	44					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTATGTCATCCCTGCAGTTTA	0.498000											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	3					0	0	0.003610	0	0
CRB2	286204	broad.mit.edu	37	9	126125281	126125281	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:126125281C>T	ENST00000373631.3	+	2	233	c.232C>T	c.(232-234)Cac>Tac	p.H78Y	CRB2_ENST00000359999.3_Missense_Mutation_p.H78Y	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	78	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCCATGCCACCACGGCGCTCT	0.682000													9	26					0	0	0.000443	0	0
SGSM1	129049	broad.mit.edu	37	22	25243717	25243717	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:25243717G>A	ENST00000400358.4	+	4	313	c.256G>A	c.(256-258)Gat>Aat	p.D86N	SGSM1_ENST00000400359.4_Missense_Mutation_p.D86N	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	86	RUN.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCCGGCTGAGGATCTGAGCCG	0.607000													8	15					0	0	0.004482	0	0
C2orf62	375307	broad.mit.edu	37	2	219222442	219222442	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:219222442G>A	ENST00000289388.3	+	3	333	c.304G>A	c.(304-306)Gga>Aga	p.G102R	C2orf62_ENST00000481940.1_3'UTR|AC021016.8_ENST00000411433.1_RNA	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	102										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATGCTCTGCGGAAATTCCCT	0.532000													14	43					0	0	0.006122	0	0
MYCBP2	23077	broad.mit.edu	37	13	77671825	77671825	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:77671825G>A	ENST00000407578.2	-	56	9730	c.9464C>T	c.(9463-9465)cCt>cTt	p.P3155L	MYCBP2_ENST00000544440.2_Missense_Mutation_p.P3117L|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.P3117L	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TAAGGGAAGAGGAGACTTAGA	0.403000													47	42					0	0	0.003610	0	0
BMP6	654	broad.mit.edu	37	6	7845396	7845396	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:7845396C>T	ENST00000283147.6	+	2	847	c.688C>T	c.(688-690)Cct>Tct	p.P230S		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	230					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					GGAGTTCTCCCCTCGTCAGCG	0.483000													47	56					0	0	0.003610	0	0
OPHN1	4983	broad.mit.edu	37	X	67518911	67518911	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:67518911G>A	ENST00000355520.5	-	3	823	c.182C>T	c.(181-183)tCc>tTc	p.S61F	OPHN1_ENST00000540071.1_Missense_Mutation_p.S61F	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	61					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAGCGTCTGGGAAAATTTCTG	0.378000													32	5					0	0	0.004878	0	0
IQGAP2	10788	broad.mit.edu	37	5	75954316	75954316	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:75954316C>T	ENST00000274364.6	+	21	2650	c.2353C>T	c.(2353-2355)Cgc>Tgc	p.R785C	IQGAP2_ENST00000379730.3_Missense_Mutation_p.R287C|IQGAP2_ENST00000396234.3_Missense_Mutation_p.R281C|IQGAP2_ENST00000502745.1_Missense_Mutation_p.R281C	NM_006633.2	NP_006624.2	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	785					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AACAGTAATTCGCAAATTTGT	0.413000													22	74					0	0	0.001061	0	0
FLT3	2322	broad.mit.edu	37	13	28631577	28631577	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:28631577A>C	ENST00000380982.4	-	4	472	c.391T>G	c.(391-393)Ttg>Gtg	p.L131V	FLT3_ENST00000241453.7_Missense_Mutation_p.L131V|FLT3_ENST00000537084.1_Missense_Mutation_p.L131V			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	131					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTCATTTTCAAAATGACCATG	0.328000			"""Mis, O"""		"""AML, ALL"""								30	36					0	0	0.002096	0	0
THYN1	29087	broad.mit.edu	37	11	134119756	134119756	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:134119756T>C	ENST00000341541.3	-	4	811	c.350A>G	c.(349-351)aAc>aGc	p.N117S	THYN1_ENST00000392594.3_Missense_Mutation_p.N117S|THYN1_ENST00000352327.5_Missense_Mutation_p.N117S|THYN1_ENST00000392595.2_Missense_Mutation_p.N117S	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	117						nucleus				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-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;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CTCTTTGCAGTTGCTATGGTA	0.488000													54	23					0	0	0.003610	0	0
ZNF628	89887	broad.mit.edu	37	19	55993031	55993031	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:55993031C>T	ENST00000391718.2	+	3	1024	c.459C>T	c.(457-459)ttC>ttT	p.F153F	ZNF628_ENST00000598519.1_Silent_p.F157F			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	153						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCAAGGCCTTCAAGAACTCGT	0.662000													9	4					0	0	0.000673	0	0
IGSF3	3321	broad.mit.edu	37	1	117122036	117122036	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:117122036G>A	ENST00000369486.3	-	10	4077	c.3312C>T	c.(3310-3312)atC>atT	p.I1104I	IGSF3_ENST00000318837.6_Silent_p.I1124I|IGSF3_ENST00000369483.1_Silent_p.I1124I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1104						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CACGGATGCCGATGGGGGCTG	0.522000													22	58					0	0	0.002780	0	0
BCO2	83875	broad.mit.edu	37	11	112064218	112064218	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:112064218G>A	ENST00000532593.1	+	0	106				BCO2_ENST00000526088.1_Silent_p.G71G|BCO2_ENST00000393032.2_Silent_p.G71G|BCO2_ENST00000357685.5_Silent_p.G105G|BCO2_ENST00000361053.4_Silent_p.G105G|SDHD_ENST00000532612.1_3'UTR|BCO2_ENST00000438022.1_Silent_p.G71G|SDHD_ENST00000532699.1_3'UTR|BCO2_ENST00000531169.1_Silent_p.G71G	NM_001256400.1	NP_001243329.1	Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2						carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						GGTTTGATGGGATGGCGCTGC	0.388000													24	3					0	0	0.003330	0	0
EEF2K	29904	broad.mit.edu	37	16	22237194	22237194	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:22237194G>A	ENST00000263026.5	+	2	618	c.144G>A	c.(142-144)tcG>tcA	p.S48S		NM_013302.3	NP_037434.1	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	48					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		ACCCAAGCTCGAACCAGAATG	0.532000													15	38					0	0	0.002450	0	0
NRG1	3084	broad.mit.edu	37	8	32621534	32621534	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:32621534C>T	ENST00000338921.4	+	13	2078	c.1561C>T	c.(1561-1563)Cct>Tct	p.P521S	NRG1_ENST00000287840.5_Missense_Mutation_p.P513S|NRG1_ENST00000356819.4_Missense_Mutation_p.P518S|NRG1_ENST00000539990.1_Missense_Mutation_p.P356S|NRG1_ENST00000287842.3_Missense_Mutation_p.P510S|NRG1_ENST00000405005.2_Missense_Mutation_p.P513S|NRG1_ENST00000519301.1_Missense_Mutation_p.P463S|NRG1_ENST00000287845.5_Missense_Mutation_p.P484S|NRG1_ENST00000341377.5_3'UTR			Q02297	NRG1_HUMAN	neuregulin 1	513					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TAACAGCCTCCCTGCTAGCCC	0.562000													17	1					0	0	0.000958	0	0
SRCAP	10847	broad.mit.edu	37	16	30748978	30748978	+	Silent	SNP	A	A	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:30748978A>G	ENST00000262518.4	+	34	8002	c.7617A>G	c.(7615-7617)tcA>tcG	p.S2539S	SRCAP_ENST00000344771.4_Silent_p.S2381S|SRCAP_ENST00000395059.2_Silent_p.S2477S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2539	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCTCTGCCTCAGTCACTAATC	0.587000													54	106					0	0	0.003610	0	0
MAGEC2	51438	broad.mit.edu	37	X	141290729	141290729	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:141290729C>T	ENST00000247452.3	-	3	1392	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	349						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)					TCTGCGGTATCAATTGTGGCC	0.468000										HNSCC(46;0.14)			39	19					0	0	0.003610	0	0
LRGUK	136332	broad.mit.edu	37	7	133812400	133812400	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:133812400G>A	ENST00000285928.2	+	1	349	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	94							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CTCAGAGTCCGAAATGCTGAA	0.642000													12	15					0	0	0.001855	0	0
LMF1	64788	broad.mit.edu	37	16	919955	919955	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:919955G>A	ENST00000262301.11	-	9	1362	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	LMF1_ENST00000543238.1_Silent_p.P211P|LMF1_ENST00000399843.2_Silent_p.P448P|LMF1_ENST00000568897.1_Silent_p.P231P	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	448						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCGTCTGCTGGGGTCACCTG	0.677000													15	32					0	0	0.003163	0	0
USP34	9736	broad.mit.edu	37	2	61415640	61415640	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:61415640T>A	ENST00000398571.2	-	80	10314	c.10238A>T	c.(10237-10239)aAa>aTa	p.K3413I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3413					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TCGGTATTCTTTAACAGAACT	0.423000													26	50					0	0	0.003954	0	0
CSF2RB	1439	broad.mit.edu	37	22	37334053	37334053	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:37334053G>A	ENST00000262825.5	+	14	2438	c.2221G>A	c.(2221-2223)Ggc>Agc	p.G741S	CSF2RB_ENST00000403662.3_Missense_Mutation_p.G735S|CSF2RB_ENST00000536485.1_Missense_Mutation_p.G682S|CSF2RB_ENST00000406230.1_Missense_Mutation_p.G741S	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	735					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	TCCCTCTCTGGGCCTCCCCTC	0.617000													54	44					0	0	0.003610	0	0
ITSN2	50618	broad.mit.edu	37	2	24426500	24426500	+	Silent	SNP	G	G	A	rs147903706		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:24426500G>A	ENST00000355123.4	-	40	5532	c.5089C>T	c.(5089-5091)Ctg>Ttg	p.L1697L	ITSN2_ENST00000361999.3_Silent_p.L1670L	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1697					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACCCCTACAGGAGAGTTTTT	0.592000													3	13					0	0	0.004672	0	0
GRM5	2915	broad.mit.edu	37	11	88300543	88300543	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:88300543C>T	ENST00000418177.2	-	8	2675	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	GRM5_ENST00000305447.4_Missense_Mutation_p.E770K|GRM5_ENST00000455756.2_Missense_Mutation_p.E770K|GRM5_ENST00000393297.1_Missense_Mutation_p.E770K|GRM5_ENST00000305432.5_Missense_Mutation_p.E770K			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	770					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TACTTGGCCTCGTTGAAGTTA	0.433000													35	9					0	0	0.004878	0	0
ASMTL	8623	broad.mit.edu	37	X	1536944	1536944	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:1536944C>T	ENST00000534940.1	-	11	1495	c.1270G>A	c.(1270-1272)Gac>Aac	p.D424N	ASMTL_ENST00000381333.4_Missense_Mutation_p.D466N|ASMTL_ENST00000381317.3_Missense_Mutation_p.D482N|ASMTL_ENST00000416733.2_Missense_Mutation_p.D406N	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	482	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		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)				TCTGGGAGGTCAAACACAGTC	0.632000													11	14					0	0	0.000673	0	0
ATP2B2	491	broad.mit.edu	37	3	10430031	10430031	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:10430031G>A	ENST00000397077.1	-	8	1412	c.837C>T	c.(835-837)aaC>aaT	p.N279N	ATP2B2_ENST00000383800.4_Silent_p.N279N|ATP2B2_ENST00000360273.2_Silent_p.N279N|ATP2B2_ENST00000352432.4_Silent_p.N279N|ATP2B2_ENST00000343816.4_Silent_p.N279N			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	279					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CAGTCTGAGAGTTCACACCCA	0.522000													62	55					0	0	0.003610	0	0
PXDNL	137902	broad.mit.edu	37	8	52321411	52321411	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:52321411G>A	ENST00000356297.4	-	17	2873	c.2773C>T	c.(2773-2775)Cct>Tct	p.P925S	PXDNL_ENST00000543296.1_Missense_Mutation_p.P925S	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	925					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAGGCCAAGGAAAGCCTGTC	0.627000													15	16					0	0	0.002450	0	0
EAF2	55840	broad.mit.edu	37	3	121575914	121575914	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:121575914G>A	ENST00000273668.2	+	4	466	c.395G>A	c.(394-396)tGg>tAg	p.W132*	EAF2_ENST00000451944.2_Nonsense_Mutation_p.W132*	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	132					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAACAAATGTGGAATTCAGCC	0.358000													15	14					0	0	0.002450	0	0
GSTT1	2952	broad.mit.edu	37	22	24379451	24379451	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:24379451C>T	ENST00000248935.5	-	3	313	c.261G>A	c.(259-261)caG>caA	p.Q87Q	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	87					glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	CCTGCAGGTCCTGAGGGTACC	0.607000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				10	4					0	0	0.000673	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712507	187712507	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:187712507G>A	ENST00000295131.2	-	2	220	c.181C>T	c.(181-183)Cct>Tct	p.P61S		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	61					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CAAACGTGAGGATTTCCTAGA	0.348000													19	50					0	0	0.001216	0	0
MECOM	2122	broad.mit.edu	37	3	169099121	169099121	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:169099121G>A	ENST00000494292.1	-	2	326	c.229C>T	c.(229-231)Cct>Tct	p.P77S	MECOM_ENST00000485957.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	77							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AACTCAGCAGGAATGGGGATA	0.478000													32	79					0	0	0.002836	0	0
NRK	203447	broad.mit.edu	37	X	105168889	105168889	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:105168889G>A	ENST00000428173.2	+	19	3484	c.3181G>A	c.(3181-3183)Gat>Aat	p.D1061N	NRK_ENST00000243300.9_Missense_Mutation_p.D1060N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1060							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						CAGTGAGGGTGATGGAGGTAA	0.502000										HNSCC(51;0.14)			16	4					0	0	0.004990	0	0
GPR50	9248	broad.mit.edu	37	X	150349283	150349283	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:150349283C>T	ENST00000218316.3	+	2	1297	c.1228C>T	c.(1228-1230)Cac>Tac	p.H410Y		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	410	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGTCTTTAGCCACTCCAAGGC	0.602000													63	8					0	0	0.003610	0	0
TRBV11-2	28581	broad.mit.edu	37	7	142197670	142197670	+	RNA	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:142197670G>A	ENST00000471935.1	-	0	307																											GCAGAAAATCGATCCTTAGGC	0.498000													10	33					0	0	0.000673	0	0
SAMD9	54809	broad.mit.edu	37	7	92734923	92734923	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:92734923G>A	ENST00000379958.2	-	3	757	c.488C>T	c.(487-489)tCa>tTa	p.S163L		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	163						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATGGATATGATACACATGT	0.363000													32	35					0	0	0.001786	0	0
BRINP3	339479	broad.mit.edu	37	1	190067958	190067958	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:190067958C>T	ENST00000367462.3	-	8	1722	c.1491G>A	c.(1489-1491)atG>atA	p.M497I	FAM5C_ENST00000534846.1_Missense_Mutation_p.M395I|FAM5C_ENST00000484105.1_5'UTR	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		497						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCAGATATTTCATCTCGAGAT	0.498000													68	73					0	0	0.003610	0	0
C11orf58	10944	broad.mit.edu	37	11	16776499	16776499	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:16776499G>A	ENST00000228136.4	+	5	778	c.400G>A	c.(400-402)Gat>Aat	p.D134N	C11orf58_ENST00000422258.2_Missense_Mutation_p.D90N|C11orf58_ENST00000525684.1_3'UTR			O00193	SMAP_HUMAN	chromosome 11 open reading frame 58	134	Asp-rich.									NS(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)	7						TGAAAGTCCAGATGATTCTGA	0.433000													20	3					0	0	0.000958	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141231641	141231641	+	Missense_Mutation	SNP	G	G	A	rs35318201		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:141231641G>A	ENST00000389328.4	-	17	2781	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R816W|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.R825W	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	825					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ACGACCTGCCGAAAAGGACTG	0.507000													34	35					0	0	0.003271	0	0
ZAN	7455	broad.mit.edu	37	7	100361526	100361526	+	RNA	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:100361526C>T	ENST00000542585.1	+	0	4232				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000348028.3_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTCGACACTCATGGCCCATT	0.597000													33	39					0	0	0.003755	0	0
ALPK1	80216	broad.mit.edu	37	4	113352739	113352739	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:113352739C>T	ENST00000458497.1	+	11	2315	c.2036C>T	c.(2035-2037)aCc>aTc	p.T679I	ALPK1_ENST00000504176.2_Missense_Mutation_p.T601I|ALPK1_ENST00000177648.9_Missense_Mutation_p.T679I	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	679							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCTCATAATACCCCAGGCATT	0.493000													12	27					0	0	0.001368	0	0
KCNC3	3748	broad.mit.edu	37	19	50826854	50826854	+	Silent	SNP	G	G	A	rs147215054		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:50826854G>A	ENST00000376959.2	-	2	1519	c.1356C>T	c.(1354-1356)atC>atT	p.I452I	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Silent_p.I452I|KCNC3_ENST00000474951.1_Intron			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	452					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CCAGGAAGATGATGAGCAGCA	0.627000													8	12					0	0	0.000443	0	0
BMP6	654	broad.mit.edu	37	6	7862700	7862700	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:7862700C>T	ENST00000283147.6	+	4	1332	c.1173C>T	c.(1171-1173)tcC>tcT	p.S391S		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	391					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CTACCCAGTCCCAGGACGTGG	0.577000													27	42					0	0	0.001512	0	0
TLR4	7099	broad.mit.edu	37	9	120476880	120476880	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:120476880G>A	ENST00000355622.6	+	3	2575	c.2474G>A	c.(2473-2475)gGa>gAa	p.G825E	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Missense_Mutation_p.G785E	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	825					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						AATCCAGAAGGAACAGTGGGT	0.498000													44	33					0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31323288	31323288	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:31323288C>T	ENST00000265071.2	+	12	2511	c.2246C>T	c.(2245-2247)tCc>tTc	p.S749F		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	749					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GTGGCGGATTCCCTGAGCTCG	0.512000													17	10					0	0	0.004990	0	0
CCDC158	339965	broad.mit.edu	37	4	77250083	77250083	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:77250083G>A	ENST00000388914.3	-	21	3120	c.2968C>T	c.(2968-2970)Ccc>Tcc	p.P990S		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	990	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CAACCAGAGGGATCTTCCCTG	0.448000													7	31					0	0	0.000443	0	0
POMGNT2	84892	broad.mit.edu	37	3	43122145	43122145	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:43122145G>A	ENST00000344697.2	-	2	1124	c.779C>T	c.(778-780)tCa>tTa	p.S260L	GTDC2_ENST00000441964.1_Missense_Mutation_p.S260L	NM_032806.4	NP_116195.2																					CTCATTGCCTGAGACGAGGAT	0.552000													30	29					0	0	0.001512	0	0
TENM2	57451	broad.mit.edu	37	5	167645808	167645808	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:167645808A>T	ENST00000519204.1	+	22	4667	c.4549A>T	c.(4549-4551)Atc>Ttc	p.I1517F	TENM2_ENST00000403607.2_Missense_Mutation_p.I1462F|TENM2_ENST00000545108.1_Missense_Mutation_p.I1637F|TENM2_ENST00000518659.1_Missense_Mutation_p.I1638F|TENM2_ENST00000520394.1_Missense_Mutation_p.I1399F					teneurin transmembrane protein 2																		TTCCCTGAAGATCCGTCGGGA	0.507000													24	67					0	0	0.005443	0	0
GRIN2C	2905	broad.mit.edu	37	17	72848636	72848636	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:72848636G>A	ENST00000293190.5	-	3	660	c.514C>T	c.(514-516)Cac>Tac	p.H172Y	GRIN2C_ENST00000347612.4_Missense_Mutation_p.H172Y|GRIN2C_ENST00000578159.1_5'UTR	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	172					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TGGCCCGGGTGCAGGCTGGTG	0.692000													6	3					0	0	0.003080	0	0
PASD1	139135	broad.mit.edu	37	X	150791502	150791502	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:150791502G>A	ENST00000370357.4	+	7	757	c.512G>A	c.(511-513)gGa>gAa	p.G171E		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	171						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)					TATCTTGTGGGAAATGTTTGC	0.512000													41	5					0	0	0.005524	0	0
C5orf30	90355	broad.mit.edu	37	5	102611675	102611675	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:102611675C>T	ENST00000319933.2	+	3	363	c.55C>T	c.(55-57)Cct>Tct	p.P19S	C5orf30_ENST00000510890.1_Missense_Mutation_p.P19S|C5orf30_ENST00000515669.1_Missense_Mutation_p.P19S	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	19										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		CTTGCCCTTCCCTGGGGCTGA	0.552000													10	22					0	0	0.000673	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182898872	182898872	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:182898872G>A	ENST00000367547.3	-	6	1328	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Silent_p.F245F	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	436										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TTCTTGGAAAGAAAGGTCCAT	0.294000													10	26					0	0	0.000673	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70744030	70744030	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:70744030G>A	ENST00000260126.3	-	2	1585	c.879C>T	c.(877-879)gtC>gtT	p.V293V	SLCO5A1_ENST00000524945.1_Silent_p.V293V|SLCO5A1_ENST00000530307.1_Silent_p.V293V|SLCO5A1_ENST00000528658.1_5'UTR	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	293						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTTCTTTCTTGACATTGTCAT	0.413000													46	43					0	0	0.003610	0	0
EPHA6	285220	broad.mit.edu	37	3	97167412	97167412	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:97167412G>A	ENST00000389672.5	+	7	1770	c.1731_splice	c.e7-1	p.E578_splice	EPHA6_ENST00000502694.1_5'UTR|EPHA6_ENST00000514100.1_5'UTR|EPHA6_ENST00000442602.2_5'UTR	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	483						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTCCCCCAGGAACATGAGCA	0.418000													18	31					0	0	0.001523	0	0
GOLGB1	2804	broad.mit.edu	37	3	121416682	121416682	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:121416682G>A	ENST00000393667.3	-	13	2798	c.2688C>T	c.(2686-2688)acC>acT	p.T896T	GOLGB1_ENST00000340645.5_Silent_p.T891T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	891					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTTGTTGGAGGGTTTCCACAT	0.393000													53	80					0	0	0.003610	0	0
GPS2	2874	broad.mit.edu	37	17	7221919	7221919	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:7221919A>G	ENST00000575474.1	-	2	199	c.200T>C	c.(199-201)cTg>cCg	p.L67P	NEURL4_ENST00000399464.2_Silent_p.S1253S|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000315614.7_Silent_p.S1251S|NEURL4_ENST00000570460.1_Silent_p.S1229S																							GCAGCCCCCCAGAGCTGTCCA	0.617000													3	14					0	0	0.004672	0	0
GPC5	2262	broad.mit.edu	37	13	92345703	92345703	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:92345703G>A	ENST00000377067.3	+	3	960	c.588G>A	c.(586-588)atG>atA	p.M196I		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	196						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCATCCGGATGGCTCGCCGGG	0.498000													40	41					0	0	0.001485	0	0
ZBED4	9889	broad.mit.edu	37	22	50279635	50279635	+	Silent	SNP	G	G	A	rs71774500		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:50279635G>A	ENST00000216268.4	+	2	2802	c.2325G>A	c.(2323-2325)gtG>gtA	p.V775V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	775						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGTCGCAGGTGGACTGCGACT	0.647000													9	11					0	0	0.000673	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431599	56431599	+	Silent	SNP	G	G	T	rs151139570		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:56431599G>T	ENST00000302969.2	+	1	462	c.438G>T	c.(436-438)ctG>ctT	p.L146L		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CTCTCATGCTGGGCTCTTACC	0.512000													5	75					0.000602214	0.00146423	0.000602	1	0
ANKS1B	56899	broad.mit.edu	37	12	99837454	99837454	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:99837454G>A	ENST00000547776.2	-	11	1571	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	ANKS1B_ENST00000329257.7_Silent_p.P524P|ANKS1B_ENST00000547010.1_Silent_p.P104P	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	524						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CACTTACCTGGGGTCGAATGA	0.413000													19	10					0	0	0.001882	0	0
TNKS1BP1	85456	broad.mit.edu	37	11	57070261	57070261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:57070261G>A	ENST00000532437.1	-	6	4666	c.4355C>T	c.(4354-4356)tCc>tTc	p.S1452F	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.S1452F			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1452	Acidic.|Tankyrase-binding.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CAGGCCCTGGGAGCCGGAGGG	0.687000													4	1					0	0	0.000602	0	0
HMGXB4	10042	broad.mit.edu	37	22	35661464	35661464	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:35661464C>T	ENST00000216106.5	+	5	1211	c.1083C>T	c.(1081-1083)ggC>ggT	p.G361G	HMGXB4_ENST00000444518.2_Silent_p.G252G	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	361					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGACATCTGGCCCTCCTCCCA	0.512000													14	48					0	0	0.002450	0	0
KCNA1	3736	broad.mit.edu	37	12	5020678	5020678	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:5020678G>A	ENST00000382545.3	+	2	1241	c.134G>A	c.(133-135)gGg>gAg	p.G45E	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)	45					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)	AACATCTCCGGGCTGCGCTTC	0.672000													21	20					0	0	0.001882	0	0
BCAR3	8412	broad.mit.edu	37	1	94027810	94027810	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:94027810C>T	ENST00000370244.1	-	14	2754	c.2466G>A	c.(2464-2466)caG>caA	p.Q822Q	BCAR3_ENST00000260502.6_Silent_p.Q822Q|BCAR3_ENST00000370243.1_Silent_p.Q822Q|BCAR3_ENST00000539242.1_Silent_p.Q498Q|BCAR3_ENST00000370247.3_Silent_p.Q731Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	822					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AAAGCTCTGCCTGCTTTACAG	0.398000													11	55					0	0	0.001368	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107446576	107446576	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:107446576G>A	ENST00000409382.3	-	5	1874	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	ST6GAL2_ENST00000409087.3_Nonsense_Mutation_p.Q422*|ST6GAL2_ENST00000361686.4_Nonsense_Mutation_p.Q422*	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	422					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGTTCTCCTGGATAATATCC	0.398000													26	70					0	0	0.003330	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558546	140558546	+	Missense_Mutation	SNP	G	G	A	rs148140727		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:140558546G>A	ENST00000239444.2	+	1	1176	c.931G>A	c.(931-933)Gaa>Aaa	p.E311K		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		311	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E311K(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTTGATTTCGAAAAATTTCA	0.383000													17	328					0	0	0.004007	0	0
COL5A3	50509	broad.mit.edu	37	19	10081318	10081318	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:10081318G>A	ENST00000264828.3	-	54	4001	c.3916C>T	c.(3916-3918)Ccc>Tcc	p.P1306S		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1306	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			gggggcccgggggcgccgggc	0.607000													3	4					0	0	0.004672	0	0
ASB4	51666	broad.mit.edu	37	7	95115433	95115433	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:95115433C>T	ENST00000325885.5	+	1	221	c.150C>T	c.(148-150)gtC>gtT	p.V50V	ASB4_ENST00000257621.4_Intron|ASB4_ENST00000428113.1_Silent_p.V50V	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	50					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTTTTGAAGTCGAAGATGAGA	0.333000													17	28					0	0	0.000958	0	0
RASEF	158158	broad.mit.edu	37	9	85619478	85619478	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:85619478C>T	ENST00000376447.3	-	9	1397	c.1137G>A	c.(1135-1137)ggG>ggA	p.G379G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	379					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AAATTGTATTCCCTGGTGAGA	0.328000													16	15					0	0	0.004990	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539831	169539831	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:169539831C>T	ENST00000340806.6	+	1	122	c.122C>T	c.(121-123)cCt>cTt	p.P41L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	41										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACTGCCATTCCTTTGGAGATC	0.383000													22	63					0	0	0.001882	0	0
SYTL2	54843	broad.mit.edu	37	11	85435888	85435888	+	Silent	SNP	G	G	A	rs141429981		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:85435888G>A	ENST00000359152.5	-	1	3183	c.3184C>T	c.(3184-3186)Ctg>Ttg	p.L1062L	SYTL2_ENST00000525423.1_Silent_p.L538L|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Silent_p.L538L|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	457					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCTTCCTTCAGTAGTTTTTCT	0.438000													42	14					0	0	0.002522	0	0
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:43430713G>A	ENST00000406070.2	-	0	961				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493000													130	124					0	0	0.003610	0	0
NDST4	64579	broad.mit.edu	37	4	115998075	115998075	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:115998075C>T	ENST00000264363.2	-	2	796	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	40	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AGTGTCATTTCCTGTTTGTAG	0.388000													12	24					0	0	0.000978	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669768	78669768	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:78669768C>T	ENST00000286627.5	-	24	3881	c.2929G>A	c.(2929-2931)Ggg>Agg	p.G977R	KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1039R|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G1035R|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G1035R|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G977R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G1038R|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G1004R|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G1018R	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1035					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)	AATGCTGTCCCACAGGCAAAG	0.498000													8	4					0	0	0.004482	0	0
PLG	5340	broad.mit.edu	37	6	161139847	161139847	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:161139847C>T	ENST00000308192.9	+	9	1136	c.1073C>T	c.(1072-1074)tCc>tTc	p.S358F		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	358					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCAGTATCCACGGAACAA	0.507000													14	6					0	0	0.006122	0	0
ADORA1	134	broad.mit.edu	37	1	203098282	203098282	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:203098282C>A	ENST00000367236.4	+	2	1234	c.313C>A	c.(313-315)Cgc>Agc	p.R105S	ADORA1_ENST00000337894.4_Missense_Mutation_p.R105S|ADORA1_ENST00000367235.1_Missense_Mutation_p.R105S|ADORA1_ENST00000309502.3_Missense_Mutation_p.R105S	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	105			R -> H (in dbSNP:rs11547176).		induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TGCTGTGGACCGCTACCTCCG	0.597000													5	91					0.00116845	0.00282225	0.001168	1	0
CD34	947	broad.mit.edu	37	1	208073226	208073226	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:208073226C>T	ENST00000356522.4	-	2	523	c.202G>A	c.(202-204)Gga>Aga	p.G68R	CD34_ENST00000537704.1_Silent_p.L17L|CD34_ENST00000310833.7_Missense_Mutation_p.G68R	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN	CD34 molecule	68					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGGTACTTCCAAGGGTACTA	0.463000													30	71					0	0	0.002096	0	0
POC1A	25886	broad.mit.edu	37	3	52130636	52130636	+	Silent	SNP	T	T	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:52130636T>A	ENST00000296484.2	-	10	1113	c.1074A>T	c.(1072-1074)acA>acT	p.T358T	POC1A_ENST00000474012.1_Silent_p.T320T|POC1A_ENST00000394970.2_Intron	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	358						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						TGCTAGTCAGTGTCTGGGGCA	0.612000													39	55					0	0	0.005524	0	0
RAB40AL	282808	broad.mit.edu	37	X	102193017	102193017	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:102193017G>A	ENST00000218249.5	+	1	818	c.771G>A	c.(769-771)gtG>gtA	p.V257V	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	257					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						TCTGCAAAGTGAAGATCGTCT	0.532000													34	4					0	0	0.003271	0	0
SCN1A	6323	broad.mit.edu	37	2	166894334	166894334	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:166894334G>A	ENST00000423058.2	-	15	2915	c.2898C>T	c.(2896-2898)gcC>gcT	p.A966A	SCN1A_ENST00000375405.3_Silent_p.A955A|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Silent_p.A966A|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Silent_p.A938A	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	966						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAAGGCACATGGCTTGACCAG	0.473000													32	80					0	0	0.003271	0	0
DAB1	1600	broad.mit.edu	37	1	57611077	57611077	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:57611077C>T	ENST00000371236.2	-	3	356	c.93G>A	c.(91-93)ttG>ttA	p.L31L	DAB1_ENST00000414851.2_Silent_p.L31L|DAB1_ENST00000371234.4_Silent_p.L31L|DAB1_ENST00000439789.2_Silent_p.L31L|DAB1_ENST00000371230.1_Silent_p.L31L|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000420954.2_Silent_p.L31L|DAB1_ENST00000371231.1_Silent_p.L31L			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	31					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACCTCTTTATCAAAGTGGCTT	0.443000													10	39					0	0	0.000443	0	0
PTK2B	2185	broad.mit.edu	37	8	27311673	27311673	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:27311673C>T	ENST00000397501.1	+	34	3406	c.2598C>T	c.(2596-2598)tcC>tcT	p.S866S	PTK2B_ENST00000346049.5_Silent_p.S866S|PTK2B_ENST00000338238.4_Silent_p.S824S|PTK2B_ENST00000420218.2_Silent_p.S824S|PTK2B_ENST00000517339.1_Silent_p.S824S|PTK2B_ENST00000544172.1_Silent_p.S866S	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	866	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCCCTCAGTCCATCCAGCCCA	0.602000													19	6					0	0	0.006122	0	0
SLC4A4	8671	broad.mit.edu	37	4	72363279	72363279	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:72363279G>A	ENST00000340595.3	+	13	2100	c.1904G>A	c.(1903-1905)gGa>gAa	p.G635E	SLC4A4_ENST00000264485.5_Missense_Mutation_p.G679E|SLC4A4_ENST00000425175.1_Missense_Mutation_p.G679E|SLC4A4_ENST00000351898.6_Missense_Mutation_p.G679E	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	679						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AAATACGGAGGAAACCTCGTC	0.373000													13	31					0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179641179	179641179	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179641179G>A	ENST00000589042.1	-	28	5636	c.5412C>T	c.(5410-5412)tcC>tcT	p.S1804S	TTN_ENST00000591111.1_Silent_p.S1804S|TTN_ENST00000360870.5_Silent_p.S1804S|TTN_ENST00000460472.2_Silent_p.S1758S|TTN_ENST00000342175.6_Silent_p.S1758S|TTN_ENST00000342992.6_Silent_p.S1804S|TTN_ENST00000359218.5_Silent_p.S1758S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1547							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)			CAGGCAATTGGGATTCTTCCA	0.403000													41	43					0	0	0.003610	0	0
SLC27A6	28965	broad.mit.edu	37	5	128302156	128302156	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:128302156C>T	ENST00000262462.4	+	1	1336	c.326C>T	c.(325-327)gCt>gTt	p.A109V	SLC27A6_ENST00000506176.1_Missense_Mutation_p.A109V|SLC27A6_ENST00000395266.1_Missense_Mutation_p.A109V			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	109					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GACACGGTGGCTCTGCTGATG	0.552000													20	11					0	0	0.001216	0	0
HUNK	30811	broad.mit.edu	37	21	33370979	33370979	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:33370979G>A	ENST00000270112.2	+	11	1987	c.1627G>A	c.(1627-1629)Gga>Aga	p.G543R		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	543					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCCAGGGCCCGGAAGCACTGG	0.602000													19	21					0	0	0.006122	0	0
IL1RL2	8808	broad.mit.edu	37	2	102851421	102851421	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:102851421C>T	ENST00000264257.2	+	11	1488	c.1362C>T	c.(1360-1362)ccC>ccT	p.P454P	IL1RL2_ENST00000539491.1_Silent_p.P454P|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.P336P	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	454	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.P454P(1)|p.P336P(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTGTGGTCCCCGAATCGCTGG	0.493000													19	35					0	0	0.006122	0	0
UGT2B7	7364	broad.mit.edu	37	4	69962908	69962908	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:69962908T>C	ENST00000305231.7	+	1	716	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.F224L	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	224					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGACTTTTGGTTCGAAATATT	0.328000													28	34					0	0	0.005443	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001275	13001275	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:13001275C>T	ENST00000376189.1	-	3	507	c.408G>A	c.(406-408)caG>caA	p.Q136Q	PRAMEF6_ENST00000376192.5_Intron|PRAMEF6_ENST00000415464.2_Silent_p.Q136Q	NM_001010889.2	NP_001010889.1	Q5VXH4	PRAM6_HUMAN	PRAME family member 6	136										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		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)		TTGGACAGTCCTGCACTGGTG	0.498000													144	421					0	0	0.003610	0	0
GABRP	2568	broad.mit.edu	37	5	170239142	170239142	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:170239142G>A	ENST00000518525.1	+	11	1667	c.1203G>A	c.(1201-1203)agG>agA	p.R401R	GABRP_ENST00000265294.4_Silent_p.R401R|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	401						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGATGGGCAGGATTGTTGATT	0.383000													11	37					0	0	0.000673	0	0
MASP1	5648	broad.mit.edu	37	3	186954276	186954276	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:186954276G>A	ENST00000296280.6	-	11	1608	c.1383C>T	c.(1381-1383)ttC>ttT	p.F461F	MASP1_ENST00000495249.1_Intron|MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.F348F	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	460	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTGCCACGGGAAGAGGCCAG	0.602000													41	68					0	0	0.002222	0	0
MYO16	23026	broad.mit.edu	37	13	109562393	109562393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:109562393C>T	ENST00000356711.2	+	16	1880	c.1754C>T	c.(1753-1755)tCa>tTa	p.S585L	MYO16_ENST00000251041.5_Missense_Mutation_p.S585L|MYO16_ENST00000357550.2_Missense_Mutation_p.S585L|MYO16_ENST00000457511.2_Missense_Mutation_p.S97L	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	585	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AGACTTGTTTCACAACCTCTT	0.338000													49	78					0	0	0.003610	0	0
MYO1D	4642	broad.mit.edu	37	17	30980903	30980903	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:30980903C>T	ENST00000318217.5	-	19	2857	c.2553G>A	c.(2551-2553)aaG>aaA	p.K851K	MYO1D_ENST00000394649.4_Silent_p.K763K|MYO1D_ENST00000579584.1_Silent_p.K851K|RP11-220C2.1_ENST00000582272.1_RNA	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	851						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TGTATTTGTCCTTCCGTTTCA	0.413000													19	14					0	0	0.002299	0	0
INVS	27130	broad.mit.edu	37	9	103055012	103055012	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:103055012C>T	ENST00000262457.2	+	14	2658	c.2473C>T	c.(2473-2475)Cct>Tct	p.P825S	INVS_ENST00000262456.2_Intron|INVS_ENST00000541287.1_Missense_Mutation_p.P729S	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	825					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				TGGGCAGAATCCTCCCCACCA	0.587000													20	17					0	0	0.001216	0	0
COL9A2	1298	broad.mit.edu	37	1	40775612	40775612	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:40775612C>T	ENST00000372748.3	-	16	940	c.844G>A	c.(844-846)Gag>Aag	p.E282K		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	282	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GGACTCACCTCGTCACCCTTC	0.612000													23	62					0	0	0.004656	0	0
RIF1	55183	broad.mit.edu	37	2	152271359	152271359	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:152271359C>T	ENST00000243326.4	+	3	689	c.206C>T	c.(205-207)tCg>tTg	p.S69L	RIF1_ENST00000428287.2_Missense_Mutation_p.S69L|RIF1_ENST00000433166.2_Missense_Mutation_p.S69L|RIF1_ENST00000453091.2_Missense_Mutation_p.S69L|RIF1_ENST00000430328.2_Missense_Mutation_p.S69L|RIF1_ENST00000444746.2_Missense_Mutation_p.S69L			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)	69					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGTCAAAACTCGGAGCTGAGT	0.333000													23	20					0	0	0.005443	0	0
CPA3	1359	broad.mit.edu	37	3	148614335	148614335	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:148614335G>A	ENST00000296046.3	+	11	1147	c.1095G>A	c.(1093-1095)tgG>tgA	p.W365*	RP11-680B3.2_ENST00000488190.1_RNA	NM_001870.2	NP_001861.2	P15088	CBPA3_HUMAN	carboxypeptidase A3 (mast cell)	365					proteolysis	stored secretory granule|transport vesicle	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CTTTAGACTGGGCTTATGACC	0.393000													19	45					0	0	0.001523	0	0
MAST4	375449	broad.mit.edu	37	5	66400333	66400333	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:66400333C>T	ENST00000404260.3	+	10	1603	c.1295C>T	c.(1294-1296)tCc>tTc	p.S432F	MAST4_ENST00000405643.1_Missense_Mutation_p.S250F|MAST4_ENST00000261569.7_Missense_Mutation_p.S235F|MAST4_ENST00000403625.2_Missense_Mutation_p.S429F|MAST4_ENST00000490016.2_Missense_Mutation_p.S240F|MAST4_ENST00000403666.1_Missense_Mutation_p.S240F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	432						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTGGATAAATCCCACCAGGGC	0.438000													6	24					0	0	0.001168	0	0
RNF220	55182	broad.mit.edu	37	1	44877799	44877799	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:44877799G>A	ENST00000355387.2	+	2	480	c.30G>A	c.(28-30)atG>atA	p.M10I	RNF220_ENST00000372247.2_Missense_Mutation_p.M10I|RNF220_ENST00000361799.2_Missense_Mutation_p.M10I			Q5VTB9	RN220_HUMAN	ring finger protein 220	10					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						CCTTCAAGATGGAGAACTCAT	0.587000													10	23					0	0	0.000673	0	0
TRANK1	9881	broad.mit.edu	37	3	36874065	36874065	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:36874065A>T	ENST00000301807.6	-	21	7124	c.5227T>A	c.(5227-5229)Ttc>Atc	p.F1743I	TRANK1_ENST00000428977.2_Missense_Mutation_p.F1743I|TRANK1_ENST00000429976.2_Missense_Mutation_p.F2293I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2293					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGAGAAGGAAAGCTTGCATG	0.493000													21	17					0	0	0.001216	0	0
BPIFB4	149954	broad.mit.edu	37	20	31673890	31673890	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:31673890G>A	ENST00000375483.3	+	5	846	c.846G>A	c.(844-846)atG>atA	p.M282I		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	282						cytoplasm|extracellular region	lipid binding										GGCTGACCATGGACCGCACGG	0.587000													57	58					0	0	0.003610	0	0
OR13C2	392376	broad.mit.edu	37	9	107367200	107367200	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:107367200C>T	ENST00000542196.1	-	1	751	c.709G>A	c.(709-711)Gct>Act	p.A237T		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GTAGAGGAAGCTTTGCTTCTC	0.393000													34	23					0	0	0.003755	0	0
NOTCH2	4853	broad.mit.edu	37	1	120496243	120496243	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:120496243G>A	ENST00000256646.2	-	14	2507	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	763	EGF-like 20; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCATGGATTCGAAAGGCATTC	0.403000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				282	208					0	0	0.003610	0	0
ATP10D	57205	broad.mit.edu	37	4	47560265	47560265	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:47560265G>A	ENST00000273859.3	+	12	2678	c.2409G>A	c.(2407-2409)atG>atA	p.M803I	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	803					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CTGTGATCATGGAGTTACTGT	0.413000													30	38					0	0	0.003271	0	0
GRIK3	2899	broad.mit.edu	37	1	37356687	37356687	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:37356687G>A	ENST00000373091.3	-	2	142	c.126C>T	c.(124-126)ttC>ttT	p.F42F	GRIK3_ENST00000373093.4_Silent_p.F42F	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	42					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	p.F42F(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCGCATACTCGAAGATTCCTC	0.498000													31	96					0	0	0.003271	0	0
ATF7IP2	80063	broad.mit.edu	37	16	10567374	10567374	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:10567374C>T	ENST00000396560.2	+	9	1692	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S	ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P33S|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.P489S|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.P489S|ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P489S	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TAGCAATTCTCCCAATGCTGA	0.289000													49	101					0	0	0.003610	0	0
TMEM74B	55321	broad.mit.edu	37	20	1162070	1162070	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:1162070A>T	ENST00000381894.3	-	2	864	c.193T>A	c.(193-195)Tcc>Acc	p.S65T	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	CT046_HUMAN	transmembrane protein 74B	65						integral to membrane	protein binding										TCCTCTGAGGAGAAGCAGGCA	0.622000													20	18					0	0	0.001216	0	0
GJB3	2707	broad.mit.edu	37	1	35250366	35250366	+	Translation_Start_Site	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:35250366G>A	ENST00000373366.2	+	2	618	c.3G>A	c.(1-3)atG>atA	p.M1I	GJB3_ENST00000373362.3_Start_Codon_SNP_p.M1I|RP1-34M23.5_ENST00000542839.1_RNA	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	1					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CAGGCGCCATGGACTGGAAGA	0.542000													5	5					0	0	0.000602	0	0
HEATR4	399671	broad.mit.edu	37	14	73989840	73989840	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:73989840T>C	ENST00000553558.1	-	3	338	c.17A>G	c.(16-18)aAg>aGg	p.K6R	HEATR4_ENST00000560393.1_5'UTR|HEATR4_ENST00000334988.2_Missense_Mutation_p.K6R|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTCTTTCCCTTCTGGGTCCT	0.527000													6	2					0	0	0.001168	0	0
EPHA3	2042	broad.mit.edu	37	3	89480399	89480399	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:89480399G>A	ENST00000336596.2	+	13	2461	c.2236G>A	c.(2236-2238)Gac>Aac	p.D746N	EPHA3_ENST00000494014.1_Missense_Mutation_p.D746N	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	746	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGTTCACCGAGACCTCGCTGC	0.498000										TSP Lung(6;0.00050)			17	12					0	0	0.004990	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55290098	55290098	+	Silent	SNP	A	A	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:55290098A>G	ENST00000336077.6	+	5	739	c.699A>G	c.(697-699)gaA>gaG	p.E233E	KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.E233E|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	233					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CACCCACTGAACCAAGCTCCA	0.502000													32	88					0	0	0.001485	0	0
TDRD7	23424	broad.mit.edu	37	9	100237744	100237744	+	Missense_Mutation	SNP	G	G	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:100237744G>C	ENST00000355295.4	+	12	2454	c.2159G>C	c.(2158-2160)cGa>cCa	p.R720P	TDRD7_ENST00000422139.2_Missense_Mutation_p.R646P|TDRD7_ENST00000540902.1_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	720	Tudor 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAATGGTTACGAGTAGAGGTA	0.328000													17	11					0	0	0.006122	0	0
GNA14	9630	broad.mit.edu	37	9	80039048	80039048	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:80039048G>A	ENST00000341700.6	-	7	1428	c.915C>T	c.(913-915)atC>atT	p.I305I	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	305					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AAAGCTTCAGGATAAAGTCTC	0.428000													18	64					0	0	0.001882	0	0
FAT1	2195	broad.mit.edu	37	4	187539690	187539690	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:187539690C>T	ENST00000441802.2	-	10	8259	c.8050G>A	c.(8050-8052)Gaa>Aaa	p.E2684K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2684	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACAACAGATTCTTTTGATGGA	0.413000										HNSCC(5;0.00058)			27	50					0	0	0.002445	0	0
GNE	10020	broad.mit.edu	37	9	36222900	36222900	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:36222900G>A	ENST00000396594.3	-	9	1711	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	GNE_ENST00000447283.2_Intron|GNE_ENST00000543356.2_Missense_Mutation_p.P498S|GNE_ENST00000377902.5_Missense_Mutation_p.P503S|GNE_ENST00000539208.1_Missense_Mutation_p.P393S|GNE_ENST00000539815.1_Missense_Mutation_p.P503S	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	503	N-acetylmannosamine kinase.				cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			TCAGAAAGGGGGGTCCTAAGG	0.517000													59	38					0	0	0.003610	0	0
DNER	92737	broad.mit.edu	37	2	230231825	230231825	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:230231825C>T	ENST00000341772.4	-	12	2000	c.1866G>A	c.(1864-1866)tgG>tgA	p.W622*		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	622					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GCCCGGACTTCCATTGGAGGT	0.483000													17	14					0	0	0.001882	0	0
WBSCR17	64409	broad.mit.edu	37	7	70800683	70800683	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:70800683C>T	ENST00000333538.5	+	2	1020	c.386C>T	c.(385-387)tCa>tTa	p.S129L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	129						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAAAAAATTTCACTGGACCGT	0.502000													11	34					0	0	0.001855	0	0
CAPZA3	93661	broad.mit.edu	37	12	18891278	18891278	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:18891278G>A	ENST00000317658.3	+	1	234	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	26					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CCCTCCAGGGGAATTTGTAAA	0.458000													31	42					0	0	0.001512	0	0
ZNF521	25925	broad.mit.edu	37	18	22807639	22807639	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:22807639A>T	ENST00000361524.3	-	4	391	c.243T>A	c.(241-243)gaT>gaA	p.D81E	ZNF521_ENST00000538137.2_Missense_Mutation_p.D81E|ZNF521_ENST00000579111.1_5'UTR|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	81					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCAAGTCGGATCATCTTCAA	0.473000			T	PAX5	ALL								11	14					0	0	0.000978	0	0
UMODL1	89766	broad.mit.edu	37	21	43547863	43547863	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:43547863C>T	ENST00000400427.1	+	19	4176	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S	UMODL1_ENST00000408989.2_Silent_p.S1332S|UMODL1_ENST00000400424.1_Silent_p.S1132S|UMODL1_ENST00000408910.2_Silent_p.S1204S|UMODL1_ENST00000400423.2_3'UTR	NM_001199527.1	NP_001186456.1	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1204						cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGATCTTTTCCTTTATCAACG	0.493000													22	24					0	0	0.002780	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50189043	50189043	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:50189043G>A	ENST00000335999.6	-	8	2801	c.2600C>T	c.(2599-2601)cCc>cTc	p.P867L		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	863	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						TGGGTCAGTGGGGCCAGGTAC	0.637000													42	21					0	0	0.002222	0	0
MUC16	94025	broad.mit.edu	37	19	9060089	9060089	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:9060089C>T	ENST00000397910.4	-	3	27560	c.27357G>A	c.(27355-27357)atG>atA	p.M9119I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9121	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						TAAGAGCGGTCATCTGTGAGT	0.498000													13	28					0	0	0.001368	0	0
PPP1R1C	151242	broad.mit.edu	37	2	182928484	182928484	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:182928484G>A	ENST00000409137.3	+	4	450	c.207G>A	c.(205-207)agG>agA	p.R69R	PPP1R1C_ENST00000475249.1_3'UTR|PPP1R1C_ENST00000280295.3_Silent_p.R76R|PPP1R1C_ENST00000452904.1_Silent_p.R69R|PPP1R1C_ENST00000409702.1_Silent_p.R69R	NM_001261424.1|NM_001261425.1	NP_001248353.1|NP_001248354.1	Q8WVI7	PPR1C_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1C	69					signal transduction	cytoplasm	protein phosphatase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0628)			CTAAGCAAAGGAAGCAGAGTG	0.458000													30	51					0	0	0.001786	0	0
LMTK2	22853	broad.mit.edu	37	7	97823516	97823516	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:97823516C>T	ENST00000297293.5	+	11	4032	c.3739C>T	c.(3739-3741)Ctg>Ttg	p.L1247L		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1247					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)					GGACAAGTCCCTGTCCAGCCA	0.602000													6	11					0	0	0.003080	0	0
ZNF331	55422	broad.mit.edu	37	19	54074872	54074872	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:54074872C>T	ENST00000253144.9	+	6	1357	c.24C>T	c.(22-24)ttC>ttT	p.F8F	ZNF331_ENST00000449416.1_Silent_p.F8F|ZNF331_ENST00000411977.2_Silent_p.F8F|ZNF331_ENST00000513999.1_Silent_p.F8F|ZNF331_ENST00000513265.1_Silent_p.F8F|ZNF331_ENST00000512387.1_Silent_p.F8F|ZNF331_ENST00000511593.2_Silent_p.F8F|ZNF331_ENST00000511154.1_Silent_p.F8F	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	8	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGGTGACGTTCGCCGACGTAG	0.527000			T	?	follicular thyroid adenoma								147	136					0	0	0.003610	0	0
CDH6	1004	broad.mit.edu	37	5	31302390	31302390	+	Silent	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:31302390T>C	ENST00000265071.2	+	6	1249	c.984T>C	c.(982-984)atT>atC	p.I328I	CDH6_ENST00000514738.1_Silent_p.I273I	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	328	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGGAAGGGATTATAACTGTCA	0.438000													10	28					0	0	0.000978	0	0
ZNF417	147687	broad.mit.edu	37	19	58420069	58420069	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:58420069C>A	ENST00000312026.5	-	3	1741	c.1577G>T	c.(1576-1578)gGa>gTa	p.G526V	CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000536263.1_Missense_Mutation_p.G327V|ZNF417_ENST00000595559.1_Missense_Mutation_p.G525V	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AAAGGATTTTCCACATTCACT	0.388000													14	58					1.3612e-06	3.36171e-06	0.003163	1	0
CENPF	1063	broad.mit.edu	37	1	214818199	214818199	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:214818199C>T	ENST00000366955.3	+	13	5454	c.5286C>T	c.(5284-5286)ttC>ttT	p.F1762F		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1858					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTATGGATTTCCTGGGGAATC	0.413000													16	22					0	0	0.003163	0	0
KSR2	283455	broad.mit.edu	37	12	117922329	117922329	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:117922329C>T	ENST00000425217.1	-	16	2309	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.G781E	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	781	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGTAGGATTCCCTTGGCGTG	0.512000													10	0					0	0	0.000978	0	0
DCC	1630	broad.mit.edu	37	18	50705392	50705392	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:50705392G>A	ENST00000442544.2	+	9	2095	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	DCC_ENST00000412726.1_Silent_p.K341K|DCC_ENST00000581580.1_Silent_p.K148K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	493	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.K493N(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GAAACCTGAAGCCAGAAGCCA	0.488000													17	12					0	0	0.004007	0	0
TNN	63923	broad.mit.edu	37	1	175116091	175116091	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:175116091G>A	ENST00000239462.4	+	19	3897	c.3784G>A	c.(3784-3786)Gga>Aga	p.G1262R		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1262	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCCTTGGAAAGGACATGAATT	0.507000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	20					0	0	0.004656	0	0
N6AMT1	29104	broad.mit.edu	37	21	30252217	30252217	+	Missense_Mutation	SNP	G	G	A	rs147660663		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:30252217G>A	ENST00000303775.5	-	4	396	c.371C>T	c.(370-372)cCc>cTc	p.P124L	N6AMT1_ENST00000351429.3_Intron	NM_013240.4	NP_037372.3	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	124	Substrate binding (By similarity).				positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						CACTACATAGGGGGGATTAAA	0.303000													41	69					0	0	0.001485	0	0
ZCCHC16	340595	broad.mit.edu	37	X	111698680	111698680	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:111698680C>T	ENST00000340433.2	+	1	954	c.724C>T	c.(724-726)Caa>Taa	p.Q242*		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	242							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						GATCCAACACCAAGCCCTCTT	0.557000													41	8					0	0	0.002222	0	0
DES	1674	broad.mit.edu	37	2	220286282	220286282	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:220286282G>A	ENST00000373960.3	+	6	1330	c.1244_splice	c.e6+1	p.R415_splice		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	415	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GAGGAGAGCCGGTGAGGGGCC	0.627000													3	8					0	0	0.004672	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459540	107459540	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:107459540G>A	ENST00000409382.3	-	2	1504	c.894C>T	c.(892-894)gtC>gtT	p.V298V	ST6GAL2_ENST00000409087.3_Silent_p.V298V|ST6GAL2_ENST00000361686.4_Silent_p.V298V	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	298					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGACATGACGACAGCGCAGC	0.687000													4	15					0	0	0.001984	0	0
IARS	3376	broad.mit.edu	37	9	95048112	95048112	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:95048112G>A	ENST00000375643.3	-	6	755	c.489C>T	c.(487-489)ttC>ttT	p.F163F	IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Silent_p.F53F|IARS_ENST00000443024.2_Silent_p.F163F	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	163					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGAGTTGTTTGAAGACCCACC	0.383000													23	17					0	0	0.003954	0	0
AGXT2	64902	broad.mit.edu	37	5	34998865	34998865	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:34998865G>A	ENST00000231420.6	-	14	1704	c.1504C>T	c.(1504-1506)Cgt>Tgt	p.R502C		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	502					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	AAGGCAGAACGAAATACTTCT	0.378000													14	32					0	0	0.004007	0	0
FNDC3B	64778	broad.mit.edu	37	3	172003763	172003763	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:172003763G>A	ENST00000336824.4	+	7	937	c.838G>A	c.(838-840)Gag>Aag	p.E280K	FNDC3B_ENST00000416957.1_Missense_Mutation_p.E280K|FNDC3B_ENST00000415807.2_Missense_Mutation_p.E280K	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	280	Fibronectin type-III 1.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCGGGAATAGAGAAACCACA	0.353000													10	24					0	0	0.000978	0	0
PLD2	5338	broad.mit.edu	37	17	4720032	4720032	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:4720032C>T	ENST00000263088.6	+	15	1704	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	PLD2_ENST00000572940.1_Missense_Mutation_p.P525S	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	525	Catalytic.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCTGGACCGGCCTTTCGAAGG	0.587000													16	66					0	0	0.000958	0	0
DENND2C	163259	broad.mit.edu	37	1	115151336	115151336	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:115151336G>A	ENST00000393274.1	-	10	2153	c.1528C>T	c.(1528-1530)Ccc>Tcc	p.P510S	DENND2C_ENST00000393277.1_Missense_Mutation_p.P510S|DENND2C_ENST00000393276.3_Missense_Mutation_p.P453S|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	510	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGACCTGGGGAATATAGCTT	0.463000													43	38					0	0	0.003214	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338707	13338707	+	RNA	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:13338707G>A	ENST00000602906.1	+	0	495																				kidney(3)|lung(1)	4						AAGAAGTAGTGGAGAAGCACT	0.458000													7	6					0	0	0.003080	0	0
UBE2E2	7325	broad.mit.edu	37	3	23250196	23250196	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:23250196C>T	ENST00000396703.1	+	2	186	c.6C>T	c.(4-6)tcC>tcT	p.S2S	UBE2E2_ENST00000425792.1_Silent_p.S2S	NM_152653.3	NP_689866.1	Q96LR5	UB2E2_HUMAN	ubiquitin-conjugating enzyme E2E 2	2					ISG15-protein conjugation|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination	nucleolus	ATP binding|ISG15 ligase activity|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(2)	10						CTAAAATGTCCACTGAGGCAC	0.403000													7	14					0	0	0.001984	0	0
MPP2	4355	broad.mit.edu	37	17	41960580	41960580	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:41960580G>A	ENST00000269095.4	-	4	598	c.294C>T	c.(292-294)ccC>ccT	p.P98P	MPP2_ENST00000523501.1_Silent_p.P87P|MPP2_ENST00000520305.1_5'UTR|MPP2_ENST00000518766.1_Silent_p.P143P|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000461854.1_Silent_p.P122P|MPP2_ENST00000377184.3_Silent_p.P115P|MPP2_ENST00000536246.1_Silent_p.P87P	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365.3	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	122	L27 2.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CCTGGAAGTGGGGCTCCTGGA	0.652000													7	5					0	0	0.001984	0	0
FN1	2335	broad.mit.edu	37	2	216262452	216262452	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:216262452C>T	ENST00000354785.4	-	22	3837	c.3468G>A	c.(3466-3468)ctG>ctA	p.L1156L	FN1_ENST00000446046.1_Silent_p.L1156L|FN1_ENST00000357009.2_Silent_p.L1156L|FN1_ENST00000346544.3_Silent_p.L1156L|FN1_ENST00000443816.1_Silent_p.L1156L|FN1_ENST00000356005.4_Silent_p.L1156L|FN1_ENST00000323926.6_Silent_p.L1156L|FN1_ENST00000336916.4_Silent_p.L1156L|FN1_ENST00000421182.1_Silent_p.L1156L|FN1_ENST00000357867.4_Silent_p.L1156L|FN1_ENST00000345488.5_Silent_p.L1156L|FN1_ENST00000432072.2_Silent_p.L1156L|FN1_ENST00000359671.1_Silent_p.L1156L			P02751	FINC_HUMAN	fibronectin 1	1156	Fibronectin type-III 6.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCCATCTCTCAGGACTTGGA	0.438000													36	36					0	0	0.005524	0	0
CR2	1380	broad.mit.edu	37	1	207651288	207651288	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:207651288G>A	ENST00000367057.3	+	16	3150	c.2961G>A	c.(2959-2961)agG>agA	p.R987R	CR2_ENST00000458541.2_Silent_p.R901R|CR2_ENST00000367058.3_Silent_p.R928R|CR2_ENST00000367059.3_Silent_p.R866R	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	928					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAACCAAGGAAAATGTATC	0.443000													8	13					0	0	0.000443	0	0
TG	7038	broad.mit.edu	37	8	134108579	134108579	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:134108579C>T	ENST00000220616.4	+	43	7574	c.7534C>T	c.(7534-7536)Cag>Tag	p.Q2512*	SLA_ENST00000517648.1_Intron|SLA_ENST00000524345.1_Intron|SLA_ENST00000518565.1_Intron|SLA_ENST00000338087.5_Intron|SLA_ENST00000395352.3_Intron|TG_ENST00000377869.1_Nonsense_Mutation_p.Q2455*|TG_ENST00000519543.1_Nonsense_Mutation_p.Q645*|TG_ENST00000542445.1_Nonsense_Mutation_p.Q882*	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2512					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGGAGTTCTCAGGACGACGG	0.577000													120	110					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179584982	179584982	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179584982C>T	ENST00000589042.1	-	81	23611	c.23387G>A	c.(23386-23388)cGa>cAa	p.R7796Q	TTN_ENST00000591111.1_Missense_Mutation_p.R7479Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R6552Q|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7479	Ig-like 60.						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)			TTTCACGAATCGTGGAGGTTC	0.453000													13	24					0	0	0.001368	0	0
PRELID2	153768	broad.mit.edu	37	5	145197505	145197505	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:145197505G>A	ENST00000334744.4	-	5	408	c.356C>T	c.(355-357)tCc>tTc	p.S119F	PRELID2_ENST00000505416.1_Missense_Mutation_p.S107F|PRELID2_ENST00000358004.2_Missense_Mutation_p.S107F|PRELID2_ENST00000394450.2_Missense_Mutation_p.S78F|PRELID2_ENST00000511435.1_Missense_Mutation_p.S107F	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	119	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCCTTCATGGATGCATACTG	0.448000													17	40					0	0	0.006122	0	0
ARPP21	10777	broad.mit.edu	37	3	35780969	35780969	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:35780969C>T	ENST00000187397.4	+	17	2261	c.1805C>T	c.(1804-1806)cCt>cTt	p.P602L	ARPP21_ENST00000417925.1_Missense_Mutation_p.P603L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P583L|ARPP21_ENST00000337271.5_Missense_Mutation_p.P583L|ARPP21_ENST00000458225.1_Missense_Mutation_p.P603L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	602	Gln-rich.					cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CAGCAGCTTCCTACAGGAGGA	0.617000													12	25					0	0	0.000978	0	0
IL10RB	3588	broad.mit.edu	37	21	34660416	34660416	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:34660416C>T	ENST00000290200.2	+	6	762	c.654C>T	c.(652-654)gtC>gtT	p.V218V		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						CAGAAACGGTCCCCTCCTGGA	0.537000													55	109					0	0	0.003610	0	0
SCGN	10590	broad.mit.edu	37	6	25665219	25665219	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:25665219C>T	ENST00000377961.2	+	4	463	c.295C>T	c.(295-297)Cgc>Tgc	p.R99C	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	99						extracellular region|transport vesicle membrane	calcium ion binding	p.R99C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TCTGCTCTTTCGCCGGGAAAA	0.473000													40	39					0	0	0.003610	0	0
MAB21L2	10586	broad.mit.edu	37	4	151504921	151504921	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:151504921G>A	ENST00000317605.4	+	1	1845	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	247					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		GGCGGCTGCCGAAACAAGTGC	0.637000													16	18					0	0	0.000958	0	0
TRPC6	7225	broad.mit.edu	37	11	101323787	101323787	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:101323787G>A	ENST00000344327.3	-	13	3119	c.2695C>T	c.(2695-2697)Ctt>Ttt	p.L899F	TRPC6_ENST00000532133.1_Missense_Mutation_p.L821F|TRPC6_ENST00000348423.4_Missense_Mutation_p.L783F|TRPC6_ENST00000360497.4_Missense_Mutation_p.L844F	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	899					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTTCTTCAAGGAGTTCATAG	0.378000													40	12					0	0	0.001485	0	0
ACSS3	79611	broad.mit.edu	37	12	81568625	81568625	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:81568625G>A	ENST00000548058.1	+	8	2067	c.1157G>A	c.(1156-1158)gGa>gAa	p.G386E	ACSS3_ENST00000261206.3_Missense_Mutation_p.G385E|ACSS3_ENST00000548324.1_Missense_Mutation_p.G68E			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	386						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCAGAGCATGGAGTAGCTGCC	0.488000													17	2					0	0	0.004990	0	0
HIST1H2AI	8329	broad.mit.edu	37	6	27776067	27776067	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:27776067C>T	ENST00000358739.3	+	1	169	c.80C>T	c.(79-81)cCc>cTc	p.P27L		NM_003509.2	NP_003500.1			histone cluster 1, H2ai											lung(3)	3						CTTCAGTTTCCCGTAGGCCGA	0.637000													27	39					0	0	0.002096	0	0
ITGB3	3690	broad.mit.edu	37	17	45368378	45368378	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:45368378C>T	ENST00000559488.1	+	9	1200	c.1184C>T	c.(1183-1185)tCc>tTc	p.S395F	ITGB3_ENST00000571680.1_Missense_Mutation_p.S395F|ITGB3_ENST00000560629.1_Silent_p.I383I|ITGB3_ENST00000435993.2_Missense_Mutation_p.S348F	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	395					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TTGTCTCTATCCTTCAATGCC	0.502000													50	19					0	0	0.003610	0	0
FGF16	8823	broad.mit.edu	37	X	76711855	76711855	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:76711855G>A	ENST00000439435.1	+	2	192	c.192G>A	c.(190-192)cgG>cgA	p.R64R				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CAAACATTCGGACTCAGAGAG	0.468000													23	8					0	0	0.002780	0	0
SCAP	22937	broad.mit.edu	37	3	47470067	47470067	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:47470067G>A	ENST00000265565.5	-	4	758	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	116					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAAGGTGAACGAAATACATCT	0.557000													25	55					0	0	0.005443	0	0
GNA14	9630	broad.mit.edu	37	9	80039047	80039047	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:80039047G>T	ENST00000341700.6	-	7	1429	c.916C>A	c.(916-918)Ctg>Atg	p.L306M	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	306					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						TAAAGCTTCAGGATAAAGTCT	0.428000													18	64					1.28384e-07	3.18496e-07	0.001882	1	0
CLEC4M	10332	broad.mit.edu	37	19	7831617	7831617	+	Missense_Mutation	SNP	G	G	A	rs138729831	byFrequency	TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:7831617G>A	ENST00000327325.5	+	5	978	c.860G>A	c.(859-861)cGg>cAg	p.R287Q	CLEC4M_ENST00000596363.1_Missense_Mutation_p.R259Q|CLEC4M_ENST00000595496.1_Missense_Mutation_p.R151Q|CLEC4M_ENST00000248228.4_Missense_Mutation_p.R265Q|CLEC4M_ENST00000394122.2_Missense_Mutation_p.R275Q|CLEC4M_ENST00000357361.2_Missense_Mutation_p.R287Q|CLEC4M_ENST00000597522.1_Missense_Mutation_p.R195Q|CLEC4M_ENST00000596707.1_Missense_Mutation_p.R220Q|CLEC4M_ENST00000359059.5_Missense_Mutation_p.R220Q|CLEC4M_ENST00000334806.5_Missense_Mutation_p.R236Q	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	287	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AACTCCCAGCGGAACTGGCAC	0.592000													22	35					0	0	0.003330	0	0
SLC38A6	145389	broad.mit.edu	37	14	61512123	61512123	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:61512123C>T	ENST00000354886.2	+	11	968	c.804C>T	c.(802-804)ccC>ccT	p.P268P	SLC38A6_ENST00000456840.2_Silent_p.P245P|SLC38A6_ENST00000267488.4_Silent_p.P268P	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	268					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		CAATATTGCCCATATACTGTG	0.333000													19	11					0	0	0.001523	0	0
ATRNL1	26033	broad.mit.edu	37	10	117278772	117278772	+	Splice_Site	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:117278772G>A	ENST00000355044.3	+	25	3780		c.e25-1		ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGATTTTTCAGATTGCATTCT	0.313000													18	6					0	0	0.001523	0	0
GPR174	84636	broad.mit.edu	37	X	78427144	78427144	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:78427144G>A	ENST00000276077.1	+	1	676	c.640G>A	c.(640-642)Gat>Aat	p.D214N		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	214						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.D214N(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						ATCACTGCAAGATAAATATCC	0.428000										HNSCC(63;0.18)			15	5					0	0	0.004990	0	0
MGAM	8972	broad.mit.edu	37	7	141727428	141727428	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:141727428C>T	ENST00000475668.2	+	10	1168	c.1114C>T	c.(1114-1116)Ctt>Ttt	p.L372F	MGAM_ENST00000549489.2_Missense_Mutation_p.L372F			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	372	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCGGCCAGCCCTTCCCTCCTA	0.443000													10	22					0	0	0.001368	0	0
ATAD2	29028	broad.mit.edu	37	8	124358364	124358364	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:124358364C>A	ENST00000287394.5	-	18	2601	c.2494G>T	c.(2494-2496)Gga>Tga	p.G832*	ATAD2_ENST00000521903.1_Nonsense_Mutation_p.G150*	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GTACTAACTCCAAAAAGAACA	0.413000													6	93					0.000157383	0.000384365	0.003080	1	0
ZCCHC2	54877	broad.mit.edu	37	18	60241538	60241538	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:60241538C>T	ENST00000269499.5	+	13	2642	c.2224C>T	c.(2224-2226)Ccc>Tcc	p.P742S	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P421S	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	742					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TGCACCCAAACCCGCTGATGG	0.463000													18	37					0	0	0.000958	0	0
MYH1	4619	broad.mit.edu	37	17	10404793	10404793	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:10404793C>T	ENST00000226207.5	-	27	3466	c.3372G>A	c.(3370-3372)gaG>gaA	p.E1124E	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1124						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTCGATTTCCTCCTCCAGCT	0.542000													14	0					0	0	0.002450	0	0
MYO3A	53904	broad.mit.edu	37	10	26455081	26455081	+	Missense_Mutation	SNP	G	G	A	rs56403976		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:26455081G>A	ENST00000265944.5	+	27	3251	c.3085G>A	c.(3085-3087)Gat>Aat	p.D1029N	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1029	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCTGGTCTCGATAACTGGGC	0.403000													66	15					0	0	0.003610	0	0
LAMB3	3914	broad.mit.edu	37	1	209796330	209796330	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:209796330C>T	ENST00000391911.1	-	16	2942	c.2553G>A	c.(2551-2553)caG>caA	p.Q851Q	LAMB3_ENST00000367030.3_Silent_p.Q851Q|LAMB3_ENST00000356082.4_Silent_p.Q851Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	851	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CACTTACCATCTGCCTGGTCC	0.637000													28	77					0	0	0.001786	0	0
DSG3	1830	broad.mit.edu	37	18	29044140	29044140	+	Missense_Mutation	SNP	C	C	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:29044140C>A	ENST00000257189.4	+	9	1149	c.1066C>A	c.(1066-1068)Cac>Aac	p.H356N		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	356	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTGAATTTCACCAATCAGT	0.383000													18	15					8.00594e-06	1.97276e-05	0.000958	1	0
NTN4	59277	broad.mit.edu	37	12	96104261	96104261	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:96104261G>A	ENST00000343702.4	-	5	1586	c.1138C>T	c.(1138-1140)Cgt>Tgt	p.R380C	NTN4_ENST00000538383.1_Missense_Mutation_p.R343C|NTN4_ENST00000553059.1_Missense_Mutation_p.R380C|NTN4_ENST00000344911.4_Missense_Mutation_p.R343C	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	380	Laminin EGF-like 2.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CGCAGGTCACGATAGAAGCCT	0.488000													24	16					0	0	0.002299	0	0
OR10J3	441911	broad.mit.edu	37	1	159284411	159284411	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:159284411G>A	ENST00000332217.5	-	1	38	c.39C>T	c.(37-39)ctC>ctT	p.L13L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AACCTTCAAAGAGGAACTCAG	0.423000													100	59					0	0	0.003610	0	0
ZNF564	163050	broad.mit.edu	37	19	12637951	12637951	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:12637951A>G	ENST00000339282.7	-	4	1167	c.971T>C	c.(970-972)gTt>gCt	p.V324A	ZNF709_ENST00000428311.1_Intron|CTD-2192J16.20_ENST00000593682.1_3'UTR	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						ATGCTTTCGAACATAACTGGG	0.363000													20	13					0	0	0.000958	0	0
GRB14	2888	broad.mit.edu	37	2	165476208	165476208	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:165476208T>A	ENST00000263915.3	-	2	851	c.313A>T	c.(313-315)Agg>Tgg	p.R105W		NM_004490.2	NP_004481.2	Q14449	GRB14_HUMAN	growth factor receptor-bound protein 14	105					blood coagulation|leukocyte migration	cytosol|endosome membrane|Golgi membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						TGTTTTTTCCTTGAATTTGCT	0.348000													29	20					0	0	0.001512	0	0
TTN	7273	broad.mit.edu	37	2	179577493	179577493	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179577493C>T	ENST00000589042.1	-	94	27483	c.27259G>A	c.(27259-27261)Gga>Aga	p.G9087R	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G8770R|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7843R|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8770	Ig-like 74.						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)			GTATATTCTCCACTTTGTGAT	0.413000													30	25					0	0	0.001786	0	0
ADCY9	115	broad.mit.edu	37	16	4016963	4016963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:4016963C>A	ENST00000294016.3	-	11	3413	c.2875G>T	c.(2875-2877)Gag>Tag	p.E959*		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	959					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGTTCCTCTCGGAACTGGAG	0.592000													5	70					0.00116845	0.00282225	0.001168	1	0
ATP7B	540	broad.mit.edu	37	13	52544779	52544779	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:52544779C>T	ENST00000242839.4	-	3	1548	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000448424.2_Silent_p.G464G|ATP7B_ENST00000344297.5_Silent_p.G464G|ATP7B_ENST00000418097.2_Silent_p.G464G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400366.3_Silent_p.G353G|ATP7B_ENST00000542656.1_Silent_p.G432G	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	464					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	p.G464G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CAGGGAGCCTCCCAGTGTGGG	0.527000									Wilson disease				56	78					0	0	0.003610	0	0
MAP1S	55201	broad.mit.edu	37	19	17831749	17831749	+	Silent	SNP	C	C	T	rs149771755		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:17831749C>T	ENST00000324096.4	+	2	274	c.123C>T	c.(121-123)atC>atT	p.I41I	MAP1S_ENST00000544059.2_Silent_p.I15I|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	41	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CACCAGGCATCCGGTCTTGGG	0.582000													46	26					0	0	0.003610	0	0
KCNC4	3749	broad.mit.edu	37	1	110766492	110766492	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:110766492G>A	ENST00000369787.3	+	2	1612	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	KCNC4_ENST00000413138.3_Missense_Mutation_p.E529K|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.E529K	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	529					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCCTGCCCGGGAAGAGGGTAT	0.602000													14	13					0	0	0.002450	0	0
ZNF285	26974	broad.mit.edu	37	19	44891168	44891168	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:44891168G>A	ENST00000330997.4	-	4	1303	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S	ZNF285_ENST00000544719.2_Silent_p.S413S|ZNF285_ENST00000591679.1_Silent_p.S420S|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CTTGAAGAACGGAGCTTGAAC	0.493000													31	24					0	0	0.002096	0	0
CR1	1378	broad.mit.edu	37	1	207758168	207758168	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:207758168G>A	ENST00000367049.4	+	33	5477	c.5477G>A	c.(5476-5478)gGg>gAg	p.G1826E	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367052.1_Missense_Mutation_p.G1376E|CR1_ENST00000367051.1_Missense_Mutation_p.G1376E|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367053.1_Missense_Mutation_p.G1376E|CR1_ENST00000400960.2_Missense_Mutation_p.G1376E	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1376	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GACCCTCATGGGAATGGGGTT	0.512000													21	67					0	0	0.005443	0	0
IL36B	27177	broad.mit.edu	37	2	113788669	113788669	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:113788669C>T	ENST00000259213.4	-	3	184	c.77G>A	c.(76-78)gGa>gAa	p.G26E	IL36B_ENST00000327407.2_Missense_Mutation_p.G26E	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	26					immune response	extracellular space	cytokine activity|interleukin-1 receptor binding			kidney(1)|ovary(1)|pancreas(1)	3						TAAAGAATTTCCACTCAGGAC	0.483000													21	25					0	0	0.003954	0	0
SMPD3	55512	broad.mit.edu	37	16	68405393	68405393	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:68405393C>T	ENST00000219334.5	-	3	1295	c.692G>A	c.(691-693)gGg>gAg	p.G231E	SMPD3_ENST00000568373.1_Missense_Mutation_p.G231E|SMPD3_ENST00000563226.1_Missense_Mutation_p.G231E	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	231					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GACAGGGTCCCCAGAGGCTGG	0.701000													9	6					0	0	0.004482	0	0
OR7A5	26659	broad.mit.edu	37	19	14938426	14938426	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:14938426G>A	ENST00000322301.3	-	2	715	c.628C>T	c.(628-630)Ccc>Tcc	p.P210S	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.P210S			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CCAGTCAGGGGACCTCCACCC	0.423000													20	27					0	0	0.001216	0	0
CDH10	1008	broad.mit.edu	37	5	24593449	24593449	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:24593449G>A	ENST00000264463.4	-	2	658	c.151C>T	c.(151-153)Cgt>Tgt	p.R51C	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	51					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R51C(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CGTTTTTGACGATGGAGAATT	0.393000										HNSCC(23;0.051)			19	74					0	0	0.001523	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187693194	187693194	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:187693194G>A	ENST00000295131.2	-	9	1458	c.1419C>T	c.(1417-1419)atC>atT	p.I473I		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	473					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TATCTAATTTGATAGAGCATA	0.303000													10	32					0	0	0.000443	0	0
ZNF70	7621	broad.mit.edu	37	22	24086677	24086677	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:24086677G>A	ENST00000341976.3	-	2	1111	c.651C>T	c.(649-651)atC>atT	p.I217I		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	217						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TTCCGGTGTGGATCTTTTGGT	0.577000													20	15					0	0	0.002780	0	0
FAM83B	222584	broad.mit.edu	37	6	54792312	54792312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:54792312C>T	ENST00000306858.7	+	4	732	c.616C>T	c.(616-618)Cga>Tga	p.R206*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	206								p.R206*(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CTAGAATATTCGAGTGCGAAC	0.299000													27	28					0	0	0.001271	0	0
DCDC1	341019	broad.mit.edu	37	11	31086668	31086668	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:31086668C>T	ENST00000597505.1	-	17	2330	c.2331G>A	c.(2329-2331)gaG>gaA	p.E777E	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CATTTAGCTCCTCTAGGTAGG	0.423000													17	1					0	0	0.004990	0	0
KCNMA1	3778	broad.mit.edu	37	10	78669767	78669767	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:78669767C>T	ENST00000286627.5	-	24	3882	c.2930G>A	c.(2929-2931)gGg>gAg	p.G977E	KCNMA1_ENST00000406533.3_Missense_Mutation_p.G1039E|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G1035E|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G1035E|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G977E|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G1038E|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G1004E|RP11-443A13.5_ENST00000600782.1_RNA|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.G1018E	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1035					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)	AAATGCTGTCCCACAGGCAAA	0.498000													8	4					0	0	0.004482	0	0
RASSF6	166824	broad.mit.edu	37	4	74442000	74442000	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:74442000C>T	ENST00000307439.5	-	11	1260	c.966G>A	c.(964-966)ctG>ctA	p.L322L	RASSF6_ENST00000335049.5_Silent_p.L310L|RASSF6_ENST00000342081.3_Silent_p.L354L|RASSF6_ENST00000395777.2_Silent_p.L288L	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	354	SARAH.				apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GAAGACATTTCAGTATAATCG	0.289000													12	11					0	0	0.001368	0	0
ATAD2B	54454	broad.mit.edu	37	2	24046247	24046247	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:24046247G>A	ENST00000238789.5	-	16	2355	c.2012C>T	c.(2011-2013)tCa>tTa	p.S671L	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	671							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCATGCCCTGAAGACATCAC	0.453000													6	16					0	0	0.001984	0	0
NYAP2	57624	broad.mit.edu	37	2	226446914	226446914	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:226446914G>A	ENST00000272907.6	+	4	1194	c.781G>A	c.(781-783)Gat>Aat	p.D261N	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	261																	GAAGGAGGACGATGACCAGAG	0.562000													47	39					0	0	0.003610	0	0
IGHV3OR16-9	28307	broad.mit.edu	37	16	32077422	32077422	+	RNA	SNP	C	C	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:32077422C>A	ENST00000354689.6	+	0	37				RP11-1166P10.6_ENST00000566806.1_RNA																							AGGCTTGGTACAGCCTGGGGG	0.567000													7	129					3.86212e-05	9.47426e-05	0.000673	1	0
WEE2	494551	broad.mit.edu	37	7	141423004	141423004	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:141423004G>A	ENST00000397541.2	+	6	1357	c.951G>A	c.(949-951)aaG>aaA	p.K317K	WEE2-AS1_ENST00000488785.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	317	Protein kinase.				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)					CAAAACTCAAGGACATCCTTC	0.453000													46	54					0	0	0.003610	0	0
OR4M1	441670	broad.mit.edu	37	14	20248760	20248760	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:20248760C>T	ENST00000315957.4	+	1	360	c.279C>T	c.(277-279)tcC>tcT	p.S93S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGATAATTTCCTTTGGTGGAT	0.448000													94	138					0	0	0.003610	0	0
GALNT14	79623	broad.mit.edu	37	2	31135139	31135139	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:31135139G>A	ENST00000349752.5	-	14	2089	c.1450C>T	c.(1450-1452)Cct>Tct	p.P484S	GALNT14_ENST00000324589.5_Missense_Mutation_p.P489S|GALNT14_ENST00000406653.1_Missense_Mutation_p.P464S|GALNT14_ENST00000420311.2_Missense_Mutation_p.P449S|GALNT14_ENST00000356174.3_Missense_Mutation_p.P451S|GALNT14_ENST00000486564.1_5'UTR	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	484	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGGCGCCAGGGAACAAGGTG	0.552000													30	29					0	0	0.001512	0	0
SPAG16	79582	broad.mit.edu	37	2	214239754	214239754	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:214239754G>A	ENST00000331683.5	+	9	948	c.853G>A	c.(853-855)Gaa>Aaa	p.E285K	SPAG16_ENST00000272898.7_Missense_Mutation_p.E285K|SPAG16_ENST00000374309.3_Missense_Mutation_p.E191K|SPAG16_ENST00000447990.1_Missense_Mutation_p.E285K	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	285					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TCGTGAAAAAGAAAATGCACC	0.313000													9	9					0	0	0.000443	0	0
SASH1	23328	broad.mit.edu	37	6	148865456	148865456	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:148865456C>T	ENST00000367467.3	+	18	3325	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	950							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CTCTGGAGGGCCACAGAAAAG	0.552000													19	3					0	0	0.001216	0	0
C20orf144	128864	broad.mit.edu	37	20	32251364	32251364	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:32251364G>A	ENST00000375222.3	+	2	215	c.153G>A	c.(151-153)ctG>ctA	p.L51L	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	51										lung(1)	1						TTCTCCCCCTGGACAAGCGGC	0.736000													12	15					0	0	0.002450	0	0
ZNF181	339318	broad.mit.edu	37	19	35232544	35232544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:35232544C>T	ENST00000392232.3	+	6	1558	c.1390C>T	c.(1390-1392)Ctt>Ttt	p.L464F	ZNF181_ENST00000492450.1_Missense_Mutation_p.L420F|ZNF181_ENST00000459757.1_Missense_Mutation_p.L419F			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			CCTCTCATTTCTTGTTCAGCA	0.378000													17	17					0	0	0.001523	0	0
PSMD3	5709	broad.mit.edu	37	17	38142864	38142864	+	Missense_Mutation	SNP	C	C	A	rs150993491		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:38142864C>A	ENST00000264639.4	+	3	622	c.448C>A	c.(448-450)Cgc>Agc	p.R150S	PSMD3_ENST00000541736.1_Missense_Mutation_p.R12S	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	150					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GTTCCGTCCCCGCACGGGAAA	0.498000													5	142					0.00198382	0.00478118	0.001984	1	0
RHPN1	114822	broad.mit.edu	37	8	144463853	144463853	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:144463853C>T	ENST00000289013.6	+	13	1701	c.1600C>T	c.(1600-1602)Ctc>Ttc	p.L534F		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	559					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CTCGCCTGTCCTCATCGCTGC	0.697000													16	8					0	0	0.004990	0	0
ZNF473	25888	broad.mit.edu	37	19	50542478	50542478	+	Missense_Mutation	SNP	G	G	A	rs139691184	byFrequency	TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:50542478G>A	ENST00000595661.1	+	4	565	c.70G>A	c.(70-72)Ggg>Agg	p.G24R	ZNF473_ENST00000391821.2_Missense_Mutation_p.G24R|ZNF473_ENST00000270617.3_Missense_Mutation_p.G24R|ZNF473_ENST00000445728.3_Missense_Mutation_p.G12R|ZNF473_ENST00000601364.1_Missense_Mutation_p.G24R			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	24	KRAB.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGAGCAGCTCGGGCTGGAACA	0.572000													32	66					0	0	0.003755	0	0
RBM15B	29890	broad.mit.edu	37	3	51430322	51430322	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:51430322C>T	ENST00000323686.4	+	1	1592	c.1492C>T	c.(1492-1494)Ccc>Tcc	p.P498S		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	498					interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACTCGGTACCCCCAGCAGTA	0.627000													14	35					0	0	0.003163	0	0
PCNX	22990	broad.mit.edu	37	14	71518712	71518712	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:71518712C>T	ENST00000304743.2	+	24	5006	c.4560C>T	c.(4558-4560)ttC>ttT	p.F1520F	PCNX_ENST00000439984.3_Silent_p.F1409F|PCNX_ENST00000238570.5_Silent_p.F1520F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1520						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTGTGAAATTCTGGGAGAGAG	0.368000													17	39					0	0	0.004990	0	0
KCNT1	57582	broad.mit.edu	37	9	138676726	138676726	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:138676726C>T	ENST00000298480.5	+	27	3221	c.3147C>T	c.(3145-3147)tcC>tcT	p.S1049S	KCNT1_ENST00000491806.2_Silent_p.S1016S|KCNT1_ENST00000490355.2_Silent_p.S1028S|KCNT1_ENST00000263604.3_Silent_p.S1030S|KCNT1_ENST00000487664.1_Silent_p.S1004S|KCNT1_ENST00000488444.2_Silent_p.S1030S|KCNT1_ENST00000371757.2_Silent_p.S1049S|KCNT1_ENST00000486577.2_Silent_p.S1008S			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1049						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGTCTTCTCCACCTCGGAGG	0.657000													44	40					0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179610806	179610806	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179610806G>A	ENST00000360870.5	-	46	16543	c.16321C>T	c.(16321-16323)Cga>Tga	p.R5441*	TTN_ENST00000591111.1_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8948	Ig-like 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5441*(1)		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)			CAGACATTTCGAATTTTAAGA	0.413000													43	52					0	0	0.002522	0	0
RBL1	5933	broad.mit.edu	37	20	35717524	35717524	+	Splice_Site	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:35717524C>T	ENST00000373664.3	-	2	224	c.156_splice	c.e2-1	p.G53_splice	RBL1_ENST00000344359.3_Splice_Site_p.G53_splice	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	53					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TGTAACTTCTCCCTGGCAAGC	0.373000													19	15					0	0	0.006122	0	0
FABP6	2172	broad.mit.edu	37	5	159659229	159659229	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:159659229C>T	ENST00000393980.4	+	5	485	c.339C>T	c.(337-339)ttC>ttT	p.F113F	FABP6_ENST00000393982.1_Silent_p.F113F|FABP6_ENST00000402432.3_Silent_p.F64F	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	64					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAACAAGTTCACTGTTGGCA	0.582000													5	7					0	0	0.000602	0	0
FATE1	89885	broad.mit.edu	37	X	150889963	150889963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chrX:150889963C>T	ENST00000370350.3	+	3	416	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_033085.2	NP_149076.1	Q969F0	FATE1_HUMAN	fetal and adult testis expressed 1	111						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CATACGTTTCCATTATGATCG	0.602000													11	0					0	0	0.001368	0	0
SIGLEC8	27181	broad.mit.edu	37	19	51961271	51961271	+	Missense_Mutation	SNP	A	A	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:51961271A>T	ENST00000321424.3	-	1	437	c.371T>A	c.(370-372)tTt>tAt	p.F124Y	SIGLEC8_ENST00000340550.5_Missense_Mutation_p.F124Y|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.F124Y	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	124					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CTCTAGCCGAAAGAAATATGA	0.498000													37	58					0	0	0.005524	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140776	143140776	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:143140776C>T	ENST00000332690.1	+	1	231	c.231C>T	c.(229-231)acC>acT	p.T77T	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	77					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TGGGTAAGACCATTTATGTTT	0.488000													23	14					0	0	0.001882	0	0
SCN1A	6323	broad.mit.edu	37	2	166892848	166892848	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:166892848C>T	ENST00000423058.2	-	16	3156	c.3139G>A	c.(3139-3141)Gaa>Aaa	p.E1047K	SCN1A_ENST00000375405.3_Missense_Mutation_p.E1036K|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000303395.4_Missense_Mutation_p.E1047K|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.E1019K	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1047						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTTAATTTCATCTAAAATC	0.308000													7	19					0	0	0.003080	0	0
GALNT13	114805	broad.mit.edu	37	2	154801128	154801128	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:154801128A>T	ENST00000392825.3	+	3	685	c.118A>T	c.(118-120)Aga>Tga	p.R40*	GALNT13_ENST00000409237.1_Nonsense_Mutation_p.R40*	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	40						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CAAGAAGGAGAGATCTCTGCT	0.423000													25	50					0	0	0.001512	0	0
FREM1	158326	broad.mit.edu	37	9	14748472	14748472	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:14748472C>T	ENST00000380881.4	-	32	6541	c.5726G>A	c.(5725-5727)gGa>gAa	p.G1909E	FREM1_ENST00000380880.3_Missense_Mutation_p.G1908E|FREM1_ENST00000380894.1_Missense_Mutation_p.G444E|FREM1_ENST00000422223.2_Missense_Mutation_p.G1908E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1908					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CAGGGTGTCTCCCCTGATGAC	0.517000													37	11					0	0	0.004289	0	0
CACNA1C	775	broad.mit.edu	37	12	2760885	2760885	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:2760885G>A	ENST00000399655.1	+	32	4290	c.4025G>A	c.(4024-4026)cGt>cAt	p.R1342H	CACNA1C_ENST00000399629.1_Missense_Mutation_p.R1359H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R1342H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R1342H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R1342H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R1342H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R1342H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R1367H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R1342H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R1331H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R1331H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R1370H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R1364H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R1342H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R1362H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R1390H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R1342H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R1342H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R1342H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R1342H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R1329H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R1342H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1390					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CTGCTGAGCCGTGGGGAGGGC	0.642000													14	24					0	0	0.002450	0	0
DSG1	1828	broad.mit.edu	37	18	28934521	28934521	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:28934521G>A	ENST00000257192.4	+	15	2574	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K	DSG1_ENST00000462981.2_Missense_Mutation_p.E147K|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	788					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CCTTCCTCAGGAAACAGAGCC	0.488000													31	34					0	0	0.002836	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021513	46021513	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:46021513C>T	ENST00000380102.2	+	1	1017	c.992C>T	c.(991-993)cCc>cTc	p.P331L	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	331	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGCCCGTCCCCTCCTGCTGC	0.721000													16	30					0	0	0.006122	0	0
PCDHGA2	56113	broad.mit.edu	37	5	140720391	140720391	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:140720391C>T	ENST00000394576.2	+	1	1853	c.1853C>T	c.(1852-1854)tCg>tTg	p.S618L	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACTCTTCTCGGTGGGTCTG	0.677000													17	52					0	0	0.006122	0	0
SOHLH2	54937	broad.mit.edu	37	13	36776216	36776216	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr13:36776216G>A	ENST00000379881.3	-	2	151	c.63C>T	c.(61-63)atC>atT	p.I21I	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.I98I|SOHLH2_ENST00000554962.1_Silent_p.I98I|SOHLH2_ENST00000317764.6_Silent_p.I21I	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CAACTAATAAGATGTCTATTT	0.408000													24	31					0	0	0.003954	0	0
IGSF21	84966	broad.mit.edu	37	1	18618468	18618468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:18618468C>T	ENST00000251296.1	+	3	675	c.292C>T	c.(292-294)Cag>Tag	p.Q98*		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	98	Ig-like 1.					extracellular region		p.Q98*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CCTGGTGTACCAGTCCACTGT	0.607000													25	55					0	0	0.001061	0	0
TAF1L	138474	broad.mit.edu	37	9	32634818	32634818	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:32634818G>A	ENST00000242310.4	-	1	849	c.760C>T	c.(760-762)Cga>Tga	p.R254*	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	254					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R254*(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTTCCAGGTCGAAATTCTGGA	0.483000													21	36					0	0	0.001882	0	0
CBX4	8535	broad.mit.edu	37	17	77809477	77809477	+	Silent	SNP	T	T	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:77809477T>G	ENST00000269397.4	-	4	391	c.214A>C	c.(214-216)Aga>Cga	p.R72R	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	72	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TTCGGCCCTCTCTTCCGATAT	0.652000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	7					0	0	0.004482	0	0
GHRHR	2692	broad.mit.edu	37	7	31008515	31008515	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:31008515C>T	ENST00000326139.2	+	2	170	c.124C>T	c.(124-126)Cta>Tta	p.L42L		NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	42					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GAGTGCCTGTCTACAAGCAGC	0.552000													15	24					0	0	0.006122	0	0
CCDC39	339829	broad.mit.edu	37	3	180366002	180366002	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:180366002T>C	ENST00000273654.4	-	16	2184	c.1565A>G	c.(1564-1566)cAa>cGa	p.Q522R	CCDC39_ENST00000442201.2_Missense_Mutation_p.Q438R			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	438					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	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)			ATCCAGTTTTTGTAACTGATG	0.343000													23	22					0	0	0.002299	0	0
LCT	3938	broad.mit.edu	37	2	136570000	136570000	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:136570000C>T	ENST00000264162.2	-	7	2244	c.2234G>A	c.(2233-2235)aGa>aAa	p.R745K		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	745	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AACTTTTCCTCTTGTGTATTC	0.468000													16	40					0	0	0.003163	0	0
PTCHD2	57540	broad.mit.edu	37	1	11562082	11562082	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:11562082C>T	ENST00000294484.6	+	2	1171	c.1033C>T	c.(1033-1035)Ccc>Tcc	p.P345S	PTCHD2_ENST00000389575.3_Missense_Mutation_p.P345S	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	345					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.P562S(1)		NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CTACTTTTTTCCCACCGAGAG	0.652000													29	11					0	0	0.001512	0	0
COL6A5	256076	broad.mit.edu	37	3	130189733	130189733	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:130189733C>T	ENST00000265379.6	+	39	7990	c.7496C>T	c.(7495-7497)cCc>cTc	p.P2499L	COL6A5_ENST00000432398.2_Missense_Mutation_p.P2499L			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2499	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AACAAATATCCCACCGAAGAT	0.428000													7	22					0	0	0.003080	0	0
KRT222	125113	broad.mit.edu	37	17	38816309	38816309	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:38816309G>A	ENST00000476049.1	-	3	417	c.376C>T	c.(376-378)Ctc>Ttc	p.L126F	KRT222_ENST00000394052.3_Missense_Mutation_p.L126F			Q8N1A0	KT222_HUMAN	keratin 222	126						intermediate filament	structural molecule activity	p.L126I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTCGTGTTGAGAAGCATCTCG	0.443000													56	47					0	0	0.003610	0	0
POU4F2	5458	broad.mit.edu	37	4	147561718	147561718	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:147561718C>T	ENST00000281321.3	+	2	1236	c.988C>T	c.(988-990)Cac>Tac	p.H330Y		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	330					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGAGAAGTCCCACCGCGAGAA	0.592000													18	37					0	0	0.000958	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725326	140725326	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:140725326G>A	ENST00000253812.6	+	1	1726	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGCGTGGAGCTGGCGCC	0.667000													26	55					0	0	0.001061	0	0
BAP1	8314	broad.mit.edu	37	3	52438473	52438473	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:52438473G>A	ENST00000460680.1	-	12	1717	c.1246C>T	c.(1246-1248)Ctt>Ttt	p.L416F	BAP1_ENST00000296288.5_Missense_Mutation_p.L398F	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	416					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GCTGACCTAAGGGCAGAGTTG	0.537000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							24	26					0	0	0.002780	0	0
C11orf63	79864	broad.mit.edu	37	11	122830109	122830109	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:122830109G>A	ENST00000227349.2	+	9	2590	c.2293G>A	c.(2293-2295)Gaa>Aaa	p.E765K	C11orf63_ENST00000531316.1_Missense_Mutation_p.E765K	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	765										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACACGAAAGGGAAAAACAGGC	0.413000													18	3					0	0	0.000958	0	0
FAT2	2196	broad.mit.edu	37	5	150923867	150923867	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:150923867T>C	ENST00000261800.5	-	9	6833	c.6821A>G	c.(6820-6822)cAa>cGa	p.Q2274R		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2274	Cadherin 20.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAGACCAATTGGGAAAAAGT	0.522000													36	25					0	0	0.002836	0	0
XRN1	54464	broad.mit.edu	37	3	142075782	142075782	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:142075782G>A	ENST00000264951.4	-	31	3761	c.3644C>T	c.(3643-3645)tCc>tTc	p.S1215F	XRN1_ENST00000392981.2_Missense_Mutation_p.S1215F	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1215					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						TGATTGAGGGGAATGGTTGAG	0.418000													20	19					0	0	0.001216	0	0
ANGPT1	284	broad.mit.edu	37	8	108297042	108297042	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:108297042C>T	ENST00000520734.1	-	6	758	c.473G>A	c.(472-474)gGg>gAg	p.G158E	ANGPT1_ENST00000520052.1_Missense_Mutation_p.G157E|ANGPT1_ENST00000518386.1_Intron			Q15389	ANGP1_HUMAN	angiopoietin 1	358					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			AAACTCATTCCCCAGCCAATA	0.408000													29	25					0	0	0.001786	0	0
SALL1	6299	broad.mit.edu	37	16	51173852	51173852	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:51173852G>A	ENST00000440970.1	-	2	2421	c.1990C>T	c.(1990-1992)Ccg>Tcg	p.P664S	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.P761S|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	761					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			ACTCTGAGCGGGGGCATAGCA	0.552000													19	6					0	0	0.001216	0	0
TCOF1	6949	broad.mit.edu	37	5	149748403	149748403	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:149748403C>T	ENST00000451292.1	+	5	611	c.503C>T	c.(502-504)aCg>aTg	p.T168M	TCOF1_ENST00000445265.2_Missense_Mutation_p.T168M|TCOF1_ENST00000377797.3_Missense_Mutation_p.T168M|TCOF1_ENST00000394269.3_Missense_Mutation_p.T168M|TCOF1_ENST00000439160.2_Missense_Mutation_p.T168M|TCOF1_ENST00000513346.1_Missense_Mutation_p.T168M|TCOF1_ENST00000323668.7_Missense_Mutation_p.T168M|TCOF1_ENST00000504761.2_Missense_Mutation_p.T168M			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	168					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAAATACTACGTTGGTCTCA	0.572000													29	10					0	0	0.001786	0	0
MAST4	375449	broad.mit.edu	37	5	66400334	66400334	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:66400334C>T	ENST00000404260.3	+	10	1604	c.1296C>T	c.(1294-1296)tcC>tcT	p.S432S	MAST4_ENST00000405643.1_Silent_p.S250S|MAST4_ENST00000261569.7_Silent_p.S235S|MAST4_ENST00000403625.2_Silent_p.S429S|MAST4_ENST00000490016.2_Silent_p.S240S|MAST4_ENST00000403666.1_Silent_p.S240S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	432						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGGATAAATCCCACCAGGGCC	0.438000													6	24					0	0	0.001168	0	0
MORC1	27136	broad.mit.edu	37	3	108723928	108723928	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:108723928C>T	ENST00000232603.5	-	19	2084	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	MORC1_ENST00000483760.1_Missense_Mutation_p.E647K	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	668					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGGGATCTCTCAGCTAGTTTG	0.333000													31	27					0	0	0.002445	0	0
LAMA1	284217	broad.mit.edu	37	18	7043305	7043305	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:7043305C>T	ENST00000389658.3	-	8	1169	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	359	Laminin EGF-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATGCAAACCCCTCCTCCTCT	0.383000													41	53					0	0	0.002222	0	0
KIF16B	55614	broad.mit.edu	37	20	16493522	16493522	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:16493522C>T	ENST00000354981.2	-	5	552	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	KIF16B_ENST00000408042.1_Missense_Mutation_p.R132Q|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R132Q	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	132	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCATTTATCCGACTGAAGAG	0.458000													16	31					0	0	0.006122	0	0
KCNC4	3749	broad.mit.edu	37	1	110766493	110766493	+	Missense_Mutation	SNP	A	A	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:110766493A>C	ENST00000369787.3	+	2	1613	c.1586A>C	c.(1585-1587)gAa>gCa	p.E529A	KCNC4_ENST00000413138.3_Missense_Mutation_p.E529A|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000438661.2_Missense_Mutation_p.E529A	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	529					synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CCTGCCCGGGAAGAGGGTATG	0.602000													13	14					0	0	0.001855	0	0
HPD	3242	broad.mit.edu	37	12	122295271	122295271	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:122295271G>A	ENST00000543163.1	-	5	489	c.44C>T	c.(43-45)tCc>tTc	p.S15F	HPD_ENST00000289004.4_Missense_Mutation_p.S54F	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	54					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	CACCTCCCGGGAACCGGTCTC	0.582000													28	7					0	0	0.001512	0	0
LOC643711	643711	broad.mit.edu	37	12	98126975	98126975	+	RNA	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:98126975C>T	ENST00000550548.1	-	0	283					NR_077240.1																						CTGAGATATCCATCTGTCGTC	0.468000													3	4					0	0	0.004672	0	0
CHRM3	1131	broad.mit.edu	37	1	240071054	240071054	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:240071054G>A	ENST00000255380.4	+	5	1082	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	101					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AGCTGAAGACGGTCAACAACT	0.468000													21	26					0	0	0.001216	0	0
OR5AR1	219493	broad.mit.edu	37	11	56431525	56431525	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:56431525C>T	ENST00000302969.2	+	1	388	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C		NM_001004730.1	NP_001004730.1	Q8NGP9	O5AR1_HUMAN	olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene)	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GGCCTATGGTCGTTTTGTGGC	0.512000													81	17					0	0	0.003610	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176755936	176755936	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:176755936C>T	ENST00000430069.1	-	12	1331	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.D358N			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	358					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CCAGTTGGGTCCCATTTGATA	0.363000													14	20					0	0	0.004990	0	0
PTPRT	11122	broad.mit.edu	37	20	40747076	40747076	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:40747076G>A	ENST00000373198.3	-	22	3250	c.3015C>T	c.(3013-3015)atC>atT	p.I1005I	PTPRT_ENST00000356100.2_Silent_p.I992I|PTPRT_ENST00000373184.1_Silent_p.I973I|PTPRT_ENST00000373190.1_Silent_p.I982I|PTPRT_ENST00000373193.3_Silent_p.I986I|PTPRT_ENST00000373187.1_Silent_p.I983I|PTPRT_ENST00000373201.1_Silent_p.I973I	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	983	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGACCATGACGATGCTGGCGG	0.532000													42	65					0	0	0.003610	0	0
SETBP1	26040	broad.mit.edu	37	18	42531250	42531250	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:42531250C>T	ENST00000282030.5	+	4	2241	c.1945C>T	c.(1945-1947)Cac>Tac	p.H649Y		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	649						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GATGAAATTTCACAAGAAAGT	0.433000									Schinzel-Giedion syndrome				13	25					0	0	0.003163	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829652	26829652	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:26829652C>G	ENST00000215906.5	+	2	509	c.71C>G	c.(70-72)tCc>tGc	p.S24C		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	24					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						AGTAAGGACTCCCCCAAGATG	0.652000													26	18					0	0	0.002445	0	0
USP24	23358	broad.mit.edu	37	1	55548966	55548966	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:55548966C>T	ENST00000294383.6	-	58	6953	c.6954G>A	c.(6952-6954)ggG>ggA	p.G2318G	USP24_ENST00000407756.1_Silent_p.G2158G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2318					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCCGACTGGCCCCTAGGAGGA	0.428000													12	32					0	0	0.001368	0	0
C5orf30	90355	broad.mit.edu	37	5	102611864	102611864	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:102611864G>A	ENST00000319933.2	+	3	552	c.244G>A	c.(244-246)Gag>Aag	p.E82K	C5orf30_ENST00000510890.1_Missense_Mutation_p.E82K|C5orf30_ENST00000515669.1_Missense_Mutation_p.E82K	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	82										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		AGGAGGTGAAGAGAGCAAAGC	0.493000													19	7					0	0	0.001882	0	0
TRANK1	9881	broad.mit.edu	37	3	36872668	36872668	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:36872668C>T	ENST00000301807.6	-	21	8521	c.6624G>A	c.(6622-6624)agG>agA	p.R2208R	TRANK1_ENST00000428977.2_Silent_p.R2208R|TRANK1_ENST00000429976.2_Silent_p.R2758R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2758					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCAGCTCAGCCCTGGAAAGGA	0.557000													28	27					0	0	0.001061	0	0
PRC1	9055	broad.mit.edu	37	15	91512747	91512747	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr15:91512747T>C	ENST00000361188.5	-	13	2890	c.1679A>G	c.(1678-1680)tAc>tGc	p.Y560C	PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000442656.2_Intron|PRC1_ENST00000361919.3_Intron|PRC1-AS1_ENST00000556200.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.Y560C			O43663	PRC1_HUMAN	protein regulator of cytokinesis 1	560	Unstructured, Arg/Lys rich.				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAGCCAGGGTACCCACCACT	0.537000													268	62					0	0	0.003610	0	0
IGSF9	57549	broad.mit.edu	37	1	159897984	159897984	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:159897984C>T	ENST00000368094.1	-	19	3391	c.3194G>A	c.(3193-3195)tGg>tAg	p.W1065*	IGSF9_ENST00000361509.3_Nonsense_Mutation_p.W1049*|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1065						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTTCGGGGCCATCTCTCAGG	0.667000													36	25					0	0	0.001951	0	0
POTEG	404785	broad.mit.edu	37	14	19553803	19553803	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:19553803G>A	ENST00000409832.3	+	1	439	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	129										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GCGCTTTCATGGAGCCGAGGT	0.597000													25	130					0	0	0.004289	0	0
TECTA	7007	broad.mit.edu	37	11	120980167	120980167	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:120980167G>A	ENST00000392793.1	+	4	717	c.446G>A	c.(445-447)tGg>tAg	p.W149*	TECTA_ENST00000264037.2_Nonsense_Mutation_p.W149*			O75443	TECTA_HUMAN	tectorin alpha	149	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATTGTGACATGGGAGGAAGTC	0.443000													37	10					0	0	0.002522	0	0
SSPO	23145	broad.mit.edu	37	7	149500562	149500562	+	RNA	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:149500562G>A	ENST00000378016.2	+	0	7963							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATACTCCCAGGATGCCGCTG	0.677000													6	6					0	0	0.003080	0	0
WDR62	284403	broad.mit.edu	37	19	36592980	36592980	+	Silent	SNP	C	C	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:36592980C>A	ENST00000401500.2	+	26	3182	c.3147C>A	c.(3145-3147)tcC>tcA	p.S1049S	WDR62_ENST00000270301.7_Silent_p.S1049S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1049					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCAGCAGCTCCCTACCCCAGA	0.642000													5	63					0.00116845	0.00282225	0.001168	1	0
DNAH7	56171	broad.mit.edu	37	2	196709845	196709845	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:196709845G>A	ENST00000312428.6	-	47	8926	c.8826C>T	c.(8824-8826)atC>atT	p.I2942I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2942					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGAGCAGGGGATATCTCTTC	0.403000													17	16					0	0	0.001216	0	0
MGAM	8972	broad.mit.edu	37	7	141770813	141770813	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:141770813G>A	ENST00000475668.2	+	44	5135	c.5081G>A	c.(5080-5082)aGa>aAa	p.R1694K	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1694	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATTAATGCAAGAGGAGAGTGG	0.537000													16	18					0	0	0.004990	0	0
TTN	7273	broad.mit.edu	37	2	179640374	179640374	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:179640374G>A	ENST00000589042.1	-	28	6441	c.6217C>T	c.(6217-6219)Cct>Tct	p.P2073S	TTN_ENST00000591111.1_Missense_Mutation_p.P2073S|TTN_ENST00000360870.5_Missense_Mutation_p.P2073S|TTN_ENST00000460472.2_Missense_Mutation_p.P2027S|TTN_ENST00000342175.6_Missense_Mutation_p.P2027S|TTN_ENST00000342992.6_Missense_Mutation_p.P2073S|TTN_ENST00000359218.5_Missense_Mutation_p.P2027S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1838							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)			TCCATACTAGGACTTAGTTCA	0.458000													21	51					0	0	0.001523	0	0
ANO10	55129	broad.mit.edu	37	3	43618398	43618398	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:43618398C>T	ENST00000292246.3	-	6	1118	c.948G>A	c.(946-948)ctG>ctA	p.L316L	ANO10_ENST00000451430.2_Silent_p.L205L|ANO10_ENST00000414522.2_Silent_p.L316L|ANO10_ENST00000396091.3_Silent_p.L250L|ANO10_ENST00000350459.4_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	316					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						GCAGGGAGACCAGGTAAATGC	0.507000													10	18					0	0	0.000673	0	0
YTHDF2	51441	broad.mit.edu	37	1	29064819	29064819	+	Missense_Mutation	SNP	T	T	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:29064819T>A	ENST00000373812.3	+	3	463	c.101T>A	c.(100-102)tTt>tAt	p.F34Y	YTHDF2_ENST00000542507.1_Missense_Mutation_p.F34Y|YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_5'UTR	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	34					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GATGATGATTTTGAACCTTAC	0.363000													22	13					0	0	0.003330	0	0
NMUR2	56923	broad.mit.edu	37	5	151771938	151771938	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:151771938G>A	ENST00000255262.3	-	4	1227	c.1062C>T	c.(1060-1062)gaC>gaT	p.D354D		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	354					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCAACTGTGGGTCATGCTGGG	0.512000													65	34					0	0	0.003610	0	0
ALPK2	115701	broad.mit.edu	37	18	56246693	56246693	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr18:56246693C>T	ENST00000361673.3	-	4	1528	c.1315G>A	c.(1315-1317)Gga>Aga	p.G439R		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	439							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GAAGACGTTCCATCCTGGTGA	0.517000											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	46					0	0	0.002445	0	0
OR4D10	390197	broad.mit.edu	37	11	59245400	59245400	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:59245400C>T	ENST00000530162.1	+	1	555	c.498C>T	c.(496-498)ctC>ctT	p.L166L		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTCCCACTCCCTTTCTGCG	0.502000													34	10					0	0	0.003755	0	0
KCNK2	3776	broad.mit.edu	37	1	215260015	215260015	+	Silent	SNP	C	C	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:215260015C>A	ENST00000444842.2	+	2	501	c.351C>A	c.(349-351)ctC>ctA	p.L117L	KCNK2_ENST00000391894.2_Silent_p.L102L|KCNK2_ENST00000391895.2_Silent_p.L113L	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	117							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	TGGATGAACTCATTCAGGTAA	0.458000													51	47					3.76628e-20	9.38582e-20	0.003610	1	0
TCP11	6954	broad.mit.edu	37	6	35108526	35108526	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:35108526G>A	ENST00000311875.5	-	2	578	c.161C>T	c.(160-162)cCc>cTc	p.P54L	TCP11_ENST00000444780.2_Missense_Mutation_p.P54L|TCP11_ENST00000373974.4_Intron|TCP11_ENST00000418521.2_Intron|TCP11_ENST00000412155.2_Intron|TCP11_ENST00000244645.3_5'UTR|TCP11_ENST00000510465.1_5'UTR|TCP11_ENST00000373979.2_Intron|TCP11_ENST00000512012.1_Missense_Mutation_p.P41L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	41					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						GGACCTACAGGGAGGGGGGTC	0.647000													11	22					0	0	0.001368	0	0
POC1A	25886	broad.mit.edu	37	3	52130635	52130635	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:52130635G>A	ENST00000296484.2	-	10	1114	c.1075C>T	c.(1075-1077)Ctg>Ttg	p.L359L	POC1A_ENST00000474012.1_Silent_p.L321L|POC1A_ENST00000394970.2_Intron	NM_015426.4	NP_056241.3	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	359						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						GTGCTAGTCAGTGTCTGGGGC	0.612000													39	51					0	0	0.005524	0	0
MYH3	4621	broad.mit.edu	37	17	10541556	10541556	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:10541556T>C	ENST00000583535.1	-	27	3620	c.3533A>G	c.(3532-3534)gAc>gGc	p.D1178G	MYH3_ENST00000226209.7_Missense_Mutation_p.D1178G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1178					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCCTCCAGGTCCCTGCGCAG	0.637000													18	6					0	0	0.000958	0	0
PSD2	84249	broad.mit.edu	37	5	139197084	139197084	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:139197084G>A	ENST00000274710.3	+	5	1240	c.1035G>A	c.(1033-1035)ctG>ctA	p.L345L		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	345	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAGCAGGCTGGTGGCCGGGG	0.577000													17	15					0	0	0.001523	0	0
ABCA3	21	broad.mit.edu	37	16	2369591	2369591	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:2369591C>T	ENST00000301732.5	-	8	1564	c.864G>A	c.(862-864)agG>agA	p.R288R	ABCA3_ENST00000382381.3_Silent_p.R288R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	288					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCTTCAGCCTCCTTTCCTTCT	0.572000													19	35					0	0	0.001523	0	0
C20orf144	128864	broad.mit.edu	37	20	32251365	32251365	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:32251365G>A	ENST00000375222.3	+	2	216	c.154G>A	c.(154-156)Gac>Aac	p.D52N	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	52										lung(1)	1						TCTCCCCCTGGACAAGCGGCA	0.736000													12	14					0	0	0.002450	0	0
CFI	3426	broad.mit.edu	37	4	110687788	110687788	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:110687788T>C	ENST00000394634.2	-	2	457	c.250A>G	c.(250-252)Aca>Gca	p.T84A	CFI_ENST00000512148.1_Missense_Mutation_p.T84A|CFI_ENST00000510800.1_Missense_Mutation_p.T84A|CFI_ENST00000394635.3_Missense_Mutation_p.T84A	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	84	Kazal-like.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TGACAGTATGTTGGGAAGCTT	0.438000													15	37					0	0	0.003163	0	0
GINS4	84296	broad.mit.edu	37	8	41387799	41387799	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:41387799C>T	ENST00000523277.2	+	2	245	c.78C>T	c.(76-78)ctC>ctT	p.L26L	GINS4_ENST00000518671.1_Silent_p.L26L|GINS4_ENST00000520710.1_Silent_p.L26L|GINS4_ENST00000276533.3_Silent_p.L26L			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	26					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			CTGCAGAGCTCATTGAAAGAT	0.463000													19	3					0	0	0.001882	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216515	20216515	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr14:20216515C>T	ENST00000331723.1	+	1	929	c.929C>T	c.(928-930)cCa>cTa	p.P310L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGGCATTCCATTGCCTTGT	0.393000													9	16					0	0	0.000443	0	0
THAP7-AS1	439931	broad.mit.edu	37	22	21363406	21363406	+	RNA	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:21363406C>T	ENST00000452284.1	+	0	1073				TUBA3FP_ENST00000422086.1_RNA|THAP7-AS1_ENST00000436079.1_RNA	NR_027051.1																						CACAGGGAGGCCGTGATGGAG	0.562000													10	22					0	0	0.000443	0	0
C4orf27	54969	broad.mit.edu	37	4	170663151	170663151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:170663151G>T	ENST00000393381.2	-	5	680	c.605C>A	c.(604-606)tCg>tAg	p.S202*		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	202						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)		CTGTTCAAGCGAGTACCCCAA	0.358000													11	27					0.00010058	0.000246186	0.001368	1	0
TNKS1BP1	85456	broad.mit.edu	37	11	57077266	57077266	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:57077266C>T	ENST00000532437.1	-	5	3230	c.2919G>A	c.(2917-2919)caG>caA	p.Q973Q	TNKS1BP1_ENST00000358252.3_Silent_p.Q973Q			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	973	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				AGCTTCTGTCCTGGGCGTCAA	0.577000													57	12					0	0	0.003610	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141802	133141802	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr8:133141802G>A	ENST00000388996.4	-	15	2746	c.2326C>T	c.(2326-2328)Ccc>Tcc	p.P776S	KCNQ3_ENST00000519445.1_Missense_Mutation_p.P764S|KCNQ3_ENST00000521134.1_Missense_Mutation_p.P656S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	776					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CTCTGCCGGGGGGAGATTCGG	0.617000													21	29					0	0	0.002780	0	0
OR52E4	390081	broad.mit.edu	37	11	5905702	5905702	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:5905702C>T	ENST00000316987.2	+	1	202	c.180C>T	c.(178-180)ccC>ccT	p.P60P		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACACCAGCCCATGTTCTACT	0.433000													56	11					0	0	0.003610	0	0
TNS3	64759	broad.mit.edu	37	7	47454705	47454705	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:47454705G>A	ENST00000398879.1	-	11	939	c.573C>T	c.(571-573)ttC>ttT	p.F191F	TNS3_ENST00000311160.9_Silent_p.F191F|TNS3_ENST00000442536.2_Silent_p.F191F|TNS3_ENST00000458317.2_Silent_p.F191F|TNS3_ENST00000355730.3_Silent_p.F191F			Q68CZ2	TENS3_HUMAN	tensin 3	191	C2 tensin-type.					focal adhesion	protein binding	p.F191fs*10(2)		NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CACCTGTGTCGAAGTTGGGGG	0.572000													4	11					0	0	0.000602	0	0
C5orf30	90355	broad.mit.edu	37	5	102611674	102611674	+	Missense_Mutation	SNP	C	C	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr5:102611674C>G	ENST00000319933.2	+	3	362	c.54C>G	c.(52-54)ttC>ttG	p.F18L	C5orf30_ENST00000510890.1_Missense_Mutation_p.F18L|C5orf30_ENST00000515669.1_Missense_Mutation_p.F18L	NM_033211.2	NP_149988.1	Q96GV9	CE030_HUMAN	chromosome 5 open reading frame 30	18										NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9		all_cancers(142;2.22e-05)|all_epithelial(76;9.54e-08)|Prostate(80;0.0174)|Colorectal(57;0.0551)|Ovarian(225;0.11)|Lung NSC(167;0.136)|all_lung(232;0.18)		Epithelial(69;2.84e-14)|COAD - Colon adenocarcinoma(37;0.00762)		CCTTGCCCTTCCCTGGGGCTG	0.552000													11	23					0	0	0.000978	0	0
SNED1	25992	broad.mit.edu	37	2	241991544	241991544	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:241991544C>T	ENST00000310397.8	+	14	1939	c.1939C>T	c.(1939-1941)Cca>Tca	p.P647S	SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.P647S|SNED1_ENST00000401884.1_Missense_Mutation_p.P647S|SNED1_ENST00000405547.3_Missense_Mutation_p.P647S	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	647	EGF-like 9.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGACTGTCCCCCAGGCTTCTC	0.617000													15	21					0	0	0.004007	0	0
TMPRSS11B	132724	broad.mit.edu	37	4	69101731	69101731	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:69101731G>A	ENST00000332644.5	-	4	458	c.297C>T	c.(295-297)gtC>gtT	p.V99V		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	99	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GAAGTTTGATGACCTCAGATT	0.269000													9	7					0	0	0.001368	0	0
COL3A1	1281	broad.mit.edu	37	2	189859504	189859504	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:189859504G>A	ENST00000304636.3	+	20	1572	c.1402G>A	c.(1402-1404)Gga>Aga	p.G468R	COL3A1_ENST00000317840.5_Missense_Mutation_p.G468R	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	468	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGCAAGGATGGATCACCTGG	0.443000													19	27					0	0	0.000958	0	0
CD8B	926	broad.mit.edu	37	2	87085363	87085363	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:87085363C>T	ENST00000390655.6	-	2	278	c.220G>A	c.(220-222)Gat>Aat	p.D74N	CD8B_ENST00000349455.3_Missense_Mutation_p.D74N|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Missense_Mutation_p.D74N|CD8B_ENST00000331469.2_Missense_Mutation_p.D74N|CD8B_ENST00000393761.2_Missense_Mutation_p.D74N	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	74	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						TTTGCGGAATCCCAGAGGGCC	0.542000													36	28					0	0	0.001287	0	0
KCNT1	57582	broad.mit.edu	37	9	138676725	138676725	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr9:138676725C>T	ENST00000298480.5	+	27	3220	c.3146C>T	c.(3145-3147)tCc>tTc	p.S1049F	KCNT1_ENST00000491806.2_Missense_Mutation_p.S1016F|KCNT1_ENST00000490355.2_Missense_Mutation_p.S1028F|KCNT1_ENST00000263604.3_Missense_Mutation_p.S1030F|KCNT1_ENST00000487664.1_Missense_Mutation_p.S1004F|KCNT1_ENST00000488444.2_Missense_Mutation_p.S1030F|KCNT1_ENST00000371757.2_Missense_Mutation_p.S1049F|KCNT1_ENST00000486577.2_Missense_Mutation_p.S1008F			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	1049						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CACGTCTTCTCCACCTCGGAG	0.662000													44	41					0	0	0.003610	0	0
STAB1	23166	broad.mit.edu	37	3	52547956	52547956	+	Missense_Mutation	SNP	G	G	T	rs146570004		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:52547956G>T	ENST00000321725.6	+	32	3482	c.3406G>T	c.(3406-3408)Gac>Tac	p.D1136Y		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1136	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCAGCAGCTGGACTTGGTGCC	0.632000													31	51					1.36239e-07	3.37222e-07	0.003271	1	0
ST3GAL5	8869	broad.mit.edu	37	2	86067340	86067340	+	Missense_Mutation	SNP	G	G	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:86067340G>T	ENST00000377332.3	-	7	1292	c.1184C>A	c.(1183-1185)aCc>aAc	p.T395N	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.T367N|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.T372N	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	395					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GAGGAACTTGGTTTCCGTTGT	0.433000													36	37					2.47316e-13	6.14932e-13	0.003271	1	0
C1orf168	199920	broad.mit.edu	37	1	57221585	57221585	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:57221585G>A	ENST00000343433.6	-	7	1194	c.1114C>T	c.(1114-1116)Ccc>Tcc	p.P372S	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	372										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TCTGGATAGGGAAAATTCTTC	0.393000													28	13					0	0	0.001512	0	0
SMARCC2	6601	broad.mit.edu	37	12	56575587	56575587	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:56575587G>A	ENST00000394023.3	-	9	846	c.741C>T	c.(739-741)acC>acT	p.T247T	SMARCC2_ENST00000347471.4_Silent_p.T247T|SMARCC2_ENST00000550859.1_5'UTR|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Silent_p.T247T|SMARCC2_ENST00000267064.4_Silent_p.T247T	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	247					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATTCATTGAAGGTGTCGGTGT	0.473000													53	11					0	0	0.003610	0	0
CFTR	1080	broad.mit.edu	37	7	117176693	117176693	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:117176693G>A	ENST00000003084.6	+	7	967	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	CFTR_ENST00000454343.1_Missense_Mutation_p.E279K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	279	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CTGCTGGGAAGAAGCAATGGA	0.308000									Cystic Fibrosis				19	27					0	0	0.002299	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43927268	43927268	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:43927268C>T	ENST00000282406.4	+	8	1281	c.1171C>T	c.(1171-1173)Caa>Taa	p.Q391*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	391						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)				TAAAAAATTTCAATCCCAGAG	0.408000													107	218					0	0	0.003610	0	0
PLG	5340	broad.mit.edu	37	6	161139848	161139848	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:161139848C>T	ENST00000308192.9	+	9	1137	c.1074C>T	c.(1072-1074)tcC>tcT	p.S358S		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	358					extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCCCAGTATCCACGGAACAAT	0.502000													15	6					0	0	0.006122	0	0
PLCH1	23007	broad.mit.edu	37	3	155198963	155198963	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:155198963C>T	ENST00000460012.1	-	23	5119	c.4762G>A	c.(4762-4764)Gtg>Atg	p.V1588M	PLCH1_ENST00000340059.7_Missense_Mutation_p.V1626M|PLCH1_ENST00000334686.6_Missense_Mutation_p.V1588M|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000414191.1_Missense_Mutation_p.V1588M			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1626					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGGCGATTCACTGCAGGGGTG	0.587000													22	54					0	0	0.002299	0	0
TRANK1	9881	broad.mit.edu	37	3	36896672	36896672	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:36896672G>A	ENST00000301807.6	-	12	4656	c.2759C>T	c.(2758-2760)tCc>tTc	p.S920F	TRANK1_ENST00000428977.2_Missense_Mutation_p.S920F|TRANK1_ENST00000429976.2_Missense_Mutation_p.S1470F	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1470					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTGAGTGGGACCTGTAATT	0.517000													5	14					0	0	0.001168	0	0
PER1	5187	broad.mit.edu	37	17	8049948	8049948	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:8049948G>A	ENST00000317276.4	-	15	2108	c.1871C>T	c.(1870-1872)tCc>tTc	p.S624F	PER1_ENST00000354903.5_Missense_Mutation_p.S608F|PER1_ENST00000581082.1_Missense_Mutation_p.S604F	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	624	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGCTGGTAGGAGCAGCTGGA	0.632000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					34	7					0	0	0.005524	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101773372	101773372	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:101773372C>T	ENST00000334289.3	-	6	1115	c.520G>A	c.(520-522)Gga>Aga	p.G174R		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	174	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TAGCTAGATCCTTCTGGGTGA	0.338000													49	13					0	0	0.003610	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176755937	176755937	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:176755937C>T	ENST00000430069.1	-	12	1330	c.1071G>A	c.(1069-1071)tgG>tgA	p.W357*	TBL1XR1_ENST00000457928.2_Nonsense_Mutation_p.W357*			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	357					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CAGTTGGGTCCCATTTGATAG	0.363000													13	20					0	0	0.004007	0	0
MYOCD	93649	broad.mit.edu	37	17	12656088	12656088	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:12656088G>A	ENST00000425538.1	+	10	1683	c.1483G>A	c.(1483-1485)Gaa>Aaa	p.E495K	MYOCD_ENST00000343344.4_Missense_Mutation_p.E495K|MYOCD_ENST00000395988.1_Missense_Mutation_p.E399K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	495	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GTGCACGGAGGAAAGTCTCAT	0.602000													9	2					0	0	0.000443	0	0
C2orf47	79568	broad.mit.edu	37	2	200824584	200824584	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:200824584C>T	ENST00000295079.2	+	4	952	c.630C>T	c.(628-630)tcC>tcT	p.S210S	C2orf47_ENST00000469156.1_3'UTR|C2orf47_ENST00000392290.1_Silent_p.S210S	NM_024520.2	NP_078796.2	Q8WWC4	CB047_HUMAN	chromosome 2 open reading frame 47	210						mitochondrion				cervix(1)|endometrium(2)|large_intestine(1)|lung(5)	9						GAGACATCTCCATTTACTATG	0.343000													31	21					0	0	0.004878	0	0
AGFG2	3268	broad.mit.edu	37	7	100161517	100161517	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:100161517G>A	ENST00000300176.4	+	10	1354	c.1232G>A	c.(1231-1233)gGg>gAg	p.G411E	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	411	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCACCCACTGGGGCCTTTGCC	0.612000											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	32					0	0	0.000443	0	0
MIR1324	100302212	broad.mit.edu	37	3	75680003	75680003	+	RNA	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:75680003G>A	ENST00000408868.1	+	0	90					NR_031714.1																						CTTTCCTGGAGGCTCCATGCT	0.522000													7	35					0	0	0.001984	0	0
PPARD	5467	broad.mit.edu	37	6	35392187	35392187	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:35392187C>T	ENST00000311565.4	+	8	1058	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	PPARD_ENST00000540939.1_Missense_Mutation_p.P134S|PPARD_ENST00000444397.1_Missense_Mutation_p.P237S|PPARD_ENST00000360694.3_Missense_Mutation_p.P237S|PPARD_ENST00000337400.2_Missense_Mutation_p.P237S|PPARD_ENST00000448077.2_Missense_Mutation_p.P198S|PPARD_ENST00000418635.2_Missense_Mutation_p.P139S	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	237					apoptosis|axon ensheathment|cholesterol metabolic process|decidualization|embryo implantation|fatty acid beta-oxidation|fatty acid transport|generation of precursor metabolites and energy|glucose metabolic process|glucose transport|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fat cell differentiation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|linoleic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TGGCCTGCCTCCCTACAAGGA	0.587000													23	24					0	0	0.003954	0	0
CBX4	8535	broad.mit.edu	37	17	77809476	77809476	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr17:77809476C>T	ENST00000269397.4	-	4	392	c.215G>A	c.(214-216)aGa>aAa	p.R72K	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	72	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTCGGCCCTCTCTTCCGATA	0.647000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	7					0	0	0.004482	0	0
FLRT3	23767	broad.mit.edu	37	20	14307027	14307027	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:14307027G>A	ENST00000378053.3	-	2	1382	c.1126C>T	c.(1126-1128)Cct>Tct	p.P376S	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.P376S|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	376					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CCTTGGGCAGGATACACTGTG	0.468000													71	64					0	0	0.003610	0	0
OR2G6	391211	broad.mit.edu	37	1	248685026	248685026	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:248685026C>T	ENST00000343414.4	+	1	111	c.79C>T	c.(79-81)Ctt>Ttt	p.L27F		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAGAGGTTTCTTTTTGCCAT	0.458000													34	36					0	0	0.001485	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517836	158517836	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:158517836C>T	ENST00000302617.3	-	1	59	c.60G>A	c.(58-60)ctG>ctA	p.L20L		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTGGAAACCCCAGAAGAATGA	0.448000													10	32					0	0	0.000673	0	0
SDPR	8436	broad.mit.edu	37	2	192701073	192701073	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:192701073C>T	ENST00000304141.4	-	2	1183	c.854G>A	c.(853-855)gGa>gAa	p.G285E		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	285						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GGAGCTTTTTCCTGAGGATAT	0.458000													36	94					0	0	0.004878	0	0
ACSM2A	123876	broad.mit.edu	37	16	20494445	20494445	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:20494445G>A	ENST00000573854.1	+	13	1689	c.1575G>A	c.(1573-1575)aaG>aaA	p.K525K	ACSM2A_ENST00000536134.1_Silent_p.K297K|ACSM2A_ENST00000219054.6_Silent_p.K525K|ACSM2A_ENST00000575690.1_Silent_p.K525K|ACSM2A_ENST00000396104.2_Silent_p.K525K|ACSM2A_ENST00000417235.2_Silent_p.K446K	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	525					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						AGCTCACCAAGGAGCTGCAGC	0.498000													45	98					0	0	0.003214	0	0
CHGB	1114	broad.mit.edu	37	20	5904645	5904645	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:5904645G>A	ENST00000378961.4	+	4	2059	c.1855G>A	c.(1855-1857)Gag>Aag	p.E619K		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	619						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAAGTCAGCTGAGTTTCCAGA	0.542000													11	8					0	0	0.000978	0	0
PRKD3	23683	broad.mit.edu	37	2	37518100	37518100	+	Missense_Mutation	SNP	A	A	G			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:37518100A>G	ENST00000379066.1	-	4	1232	c.470T>C	c.(469-471)cTc>cCc	p.L157P	PRKD3_ENST00000234179.2_Missense_Mutation_p.L157P			O94806	KPCD3_HUMAN	protein kinase D3	157					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				ATGTACATAGAGAGTATGTGG	0.388000													26	16					0	0	0.004656	0	0
GRID2	2895	broad.mit.edu	37	4	94128560	94128560	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:94128560G>A	ENST00000282020.4	+	5	999	c.741G>A	c.(739-741)gtG>gtA	p.V247V	GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Silent_p.V152V	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	247					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TCTAGGTTGTGGAGACTAATT	0.308000													17	48					0	0	0.001523	0	0
GLB1L3	112937	broad.mit.edu	37	11	134151280	134151280	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:134151280G>A	ENST00000389887.5	+	4	2868	c.372G>A	c.(370-372)ccG>ccA	p.P124P	GLB1L3_ENST00000431683.2_Silent_p.P124P			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	124					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCTATGTTCCGTGGAACCTGC	0.493000													74	23					0	0	0.003610	0	0
LRRC42	115353	broad.mit.edu	37	1	54417850	54417850	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:54417850G>A	ENST00000371370.3	+	3	699	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	LRRC42_ENST00000319223.4_Missense_Mutation_p.E60K	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	60										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CATGAACAGGGAAGACGACAC	0.512000													20	44					0	0	0.002780	0	0
UNC93A	54346	broad.mit.edu	37	6	167708178	167708178	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:167708178C>T	ENST00000230256.3	+	2	436	c.261C>T	c.(259-261)ttC>ttT	p.F87F	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Silent_p.F87F	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	87						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GCAACTTCTTCGCCAGCTGGT	0.622000													64	16					0	0	0.003610	0	0
TRIM15	89870	broad.mit.edu	37	6	30131573	30131573	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:30131573C>T	ENST00000376694.4	+	1	581	c.112C>T	c.(112-114)Ctc>Ttc	p.L38F	TRIM15_ENST00000376688.1_Missense_Mutation_p.L38F	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	38					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTTCTGCCGGCTCTGCCTCCC	0.667000													26	21					0	0	0.002096	0	0
KIF16B	55614	broad.mit.edu	37	20	16493521	16493521	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr20:16493521C>T	ENST00000354981.2	-	5	553	c.396G>A	c.(394-396)cgG>cgA	p.R132R	KIF16B_ENST00000408042.1_Silent_p.R132R|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Silent_p.R132R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	132	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTCATTTATCCGACTGAAGA	0.458000													17	34					0	0	0.000958	0	0
TECTA	7007	broad.mit.edu	37	11	121016325	121016325	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:121016325C>T	ENST00000392793.1	+	12	3876	c.3605C>T	c.(3604-3606)tCc>tTc	p.S1202F	TECTA_ENST00000478058.1_3'UTR|TECTA_ENST00000264037.2_Missense_Mutation_p.S1202F			O75443	TECTA_HUMAN	tectorin alpha	1202	VWFD 3.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AATATCTTTTCCTTTGGCTTC	0.502000													71	17					0	0	0.003610	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													8	88					0	0	0.000443	0	0
TBX20	57057	broad.mit.edu	37	7	35242269	35242269	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:35242269C>T	ENST00000408931.3	-	8	1643	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	373						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						GCTATGGATGCTGTGCTGGTG	0.527000													4	14					0	0	0.000602	0	0
EPS15L1	58513	broad.mit.edu	37	19	16514715	16514715	+	Silent	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:16514715T>C	ENST00000602009.1	-	9	1888	c.993A>G	c.(991-993)caA>caG	p.Q331Q	EPS15L1_ENST00000535753.2_Silent_p.Q485Q|EPS15L1_ENST00000455140.2_Silent_p.Q485Q|EPS15L1_ENST00000248070.6_Silent_p.Q485Q|EPS15L1_ENST00000597937.1_Silent_p.Q485Q|EPS15L1_ENST00000594975.1_Silent_p.Q485Q			Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	485	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						ATTCCTGAGATTGGATTTGCG	0.458000													4	18					0	0	0.000602	0	0
PHF21B	112885	broad.mit.edu	37	22	45309881	45309881	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:45309881G>A	ENST00000313237.5	-	5	802	c.652C>T	c.(652-654)Cca>Tca	p.P218S	PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000403565.1_Intron|PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000447824.3_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	218							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		gacagtgatggggagggaggg	0.652000													29	15					0	0	0.005443	0	0
MEGF6	1953	broad.mit.edu	37	1	3425709	3425709	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:3425709C>T	ENST00000356575.4	-	12	1684	c.1458G>A	c.(1456-1458)caG>caA	p.Q486Q	MEGF6_ENST00000294599.4_Silent_p.Q381Q	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	486						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CGTCGTCATCCTGGAAGAGTT	0.682000													4	9					0	0	0.000248	0	0
STK38L	23012	broad.mit.edu	37	12	27465494	27465494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:27465494C>T	ENST00000389032.3	+	6	575	c.406C>T	c.(406-408)Cga>Tga	p.R136*	STK38L_ENST00000539577.1_Nonsense_Mutation_p.R43*	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	136	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					GGCCCATATCCGAGCAGAAAG	0.338000													30	27					0	0	0.004289	0	0
OR4A16	81327	broad.mit.edu	37	11	55110739	55110739	+	Silent	SNP	G	G	A	rs78513473		TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:55110739G>A	ENST00000314721.2	+	1	113	c.63G>A	c.(61-63)gtG>gtA	p.V21V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACAT	0.413000													28	4					0	0	0.005443	0	0
EIF3D	8664	broad.mit.edu	37	22	36922128	36922128	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:36922128G>A	ENST00000216190.8	-	2	411	c.41C>T	c.(40-42)tCa>tTa	p.S14L	EIF3D_ENST00000405442.1_Missense_Mutation_p.S14L|EIF3D_ENST00000541106.1_Missense_Mutation_p.S14L	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	14						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						ACCCCAGCCTGAGGGGTTGTC	0.522000													18	38					0	0	0.000958	0	0
ANKRD52	283373	broad.mit.edu	37	12	56648425	56648425	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:56648425G>A	ENST00000267116.7	-	7	751	c.630C>T	c.(628-630)ctC>ctT	p.L210L		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	210							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CAGCTGTATGGAGCAGCCCAT	0.587000													7	0					0	0	0.003080	0	0
ANKRD30BP3	338579	broad.mit.edu	37	10	45652287	45652287	+	RNA	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr10:45652287G>A	ENST00000427229.2	+	0	1801																											CACCTGACATGGCTGAAAGCT	0.473000													10	4					0	0	0.000978	0	0
AIRE	326	broad.mit.edu	37	21	45708302	45708302	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:45708302G>A	ENST00000291582.5	+	5	740	c.613G>A	c.(613-615)Gcc>Acc	p.A205T		NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	205	SAND.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		AGCCCGAGGGGCCGTGGAGGG	0.627000									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				40	54					0	0	0.001951	0	0
GCSHP3	100329109	broad.mit.edu	37	2	206980992	206980992	+	RNA	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:206980992C>T	ENST00000453039.1	+	0	722					NR_033248.1																						TCATTAATTTCGGTTACTTCT	0.388000													13	15					0	0	0.001368	0	0
TBC1D10A	83874	broad.mit.edu	37	22	30691757	30691757	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr22:30691757G>A	ENST00000215790.7	-	4	657	c.493C>T	c.(493-495)Cat>Tat	p.H165Y	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.H77Y|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.H172Y|RP1-130H16.18_ENST00000447976.1_Missense_Mutation_p.H39Y	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	165	Rab-GAP TBC.					intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AACATCTCATGGAATGGGAAC	0.607000													13	12					0	0	0.002450	0	0
CD163	9332	broad.mit.edu	37	12	7639195	7639195	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:7639195C>T	ENST00000359156.4	-	10	2560	c.2358G>A	c.(2356-2358)atG>atA	p.M786I	CD163_ENST00000396620.3_Missense_Mutation_p.M819I|CD163_ENST00000541972.1_Missense_Mutation_p.M774I|CD163_ENST00000432237.2_Missense_Mutation_p.M786I	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	786	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CATTGCATTTCATCTCATCCA	0.542000													64	108					0	0	0.003610	0	0
ALG8	79053	broad.mit.edu	37	11	77835129	77835129	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr11:77835129G>A	ENST00000376156.3	-	3	309	c.306C>T	c.(304-306)acC>acT	p.T102T	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Silent_p.T102T	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	102					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			GGAAAAGTAAGGTCCTTGAGC	0.378000													40	9					0	0	0.001485	0	0
OR5V1	81696	broad.mit.edu	37	6	29323340	29323340	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:29323340G>A	ENST00000377154.1	-	4	932	c.633C>T	c.(631-633)ttC>ttT	p.F211F	OR5V1_ENST00000543825.1_Silent_p.F211F			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGATACAAAGGAAAGGAGTCC	0.478000													47	60					0	0	0.003610	0	0
RFX5	5993	broad.mit.edu	37	1	151316936	151316936	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:151316936G>A	ENST00000290524.4	-	7	608	c.430C>T	c.(430-432)Cct>Tct	p.P144S	RFX5_ENST00000452513.2_Missense_Mutation_p.P104S|RFX5_ENST00000368870.2_Missense_Mutation_p.P144S|RFX5_ENST00000452671.2_Missense_Mutation_p.P144S	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	144						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTGATGTCAGGGAAGATCTCT	0.557000													27	8					0	0	0.004656	0	0
TRPM2	7226	broad.mit.edu	37	21	45795868	45795868	+	Silent	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr21:45795868C>T	ENST00000397928.1	+	6	1369	c.924C>T	c.(922-924)ttC>ttT	p.F308F	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Silent_p.F308F|TRPM2_ENST00000397932.2_Silent_p.F308F|TRPM2_ENST00000300481.9_Silent_p.F308F	NM_003307.3	NP_003298.1	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	308						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGAGAAGTTCATATCGGAGC	0.582000													12	24					0	0	0.001855	0	0
STAB2	55576	broad.mit.edu	37	12	104046452	104046452	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:104046452G>A	ENST00000388887.2	+	12	1580	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	459	FAS1 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCTTGACTGGAAAGTCGGGG	0.403000													23	11					0	0	0.004656	0	0
MGA	23269	broad.mit.edu	37	15	42058433	42058433	+	Missense_Mutation	SNP	T	T	C			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr15:42058433T>C	ENST00000219905.7	+	24	8334	c.8153T>C	c.(8152-8154)gTt>gCt	p.V2718A	MGA_ENST00000570161.1_Missense_Mutation_p.V2718A|MGA_ENST00000389936.4_Missense_Mutation_p.V2679A|MGA_ENST00000566586.1_Missense_Mutation_p.V2509A|MGA_ENST00000545763.1_Missense_Mutation_p.V2509A	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2679						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)		CCAACGCAGGTTTTTCTGGCA	0.408000													13	2					0	0	0.001368	0	0
PRKAG3	53632	broad.mit.edu	37	2	219688558	219688558	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:219688558C>T	ENST00000439262.2	-	13	1417	c.1322G>A	c.(1321-1323)gGc>gAc	p.G441D	PRKAG3_ENST00000545803.1_Missense_Mutation_p.G282D|PRKAG3_ENST00000529249.1_Missense_Mutation_p.G466D	NM_017431.2	NP_059127.2	Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	466	CBS 4.				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)		GGAGACCACGCCCAAGAGATG	0.612000													29	25					0	0	0.001512	0	0
OCIAD1	54940	broad.mit.edu	37	4	48853932	48853932	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr4:48853932C>T	ENST00000425583.2	+	7	762	c.487C>T	c.(487-489)Cca>Tca	p.P163S	OCIAD1_ENST00000506801.1_Missense_Mutation_p.P109S|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P163S|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000381473.3_Missense_Mutation_p.P163S|OCIAD1_ENST00000396448.2_Missense_Mutation_p.P163S|OCIAD1_ENST00000444354.2_Missense_Mutation_p.P163S|OCIAD1_ENST00000509122.1_Missense_Mutation_p.P136S|OCIAD1_ENST00000264312.7_Missense_Mutation_p.P163S|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P163S	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	163						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TGAGCCAATTCCATTCAGTTC	0.368000													13	52					0	0	0.002450	0	0
ZDBF2	57683	broad.mit.edu	37	2	207175899	207175899	+	Missense_Mutation	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr2:207175899G>A	ENST00000374423.3	+	5	7033	c.6647G>A	c.(6646-6648)cGg>cAg	p.R2216Q		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2216							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTTGGATTCGGACCAAACCA	0.358000													9	17					0	0	0.000443	0	0
LRFN2	57497	broad.mit.edu	37	6	40359883	40359883	+	Silent	SNP	G	G	A			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr6:40359883G>A	ENST00000338305.6	-	3	2711	c.2169C>T	c.(2167-2169)tcC>tcT	p.S723S		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	723						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCATGTCGAAGGAGTGGCTGC	0.701000													8	10					0	0	0.003080	0	0
GTF2IRD1	9569	broad.mit.edu	37	7	73973290	73973290	+	Missense_Mutation	SNP	C	C	T			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:73973290C>T	ENST00000476977.1	+	21	3898	c.2207C>T	c.(2206-2208)cCg>cTg	p.P736L	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.P736L|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.P751L|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.P768L|GTF2IRD1_ENST00000489094.1_3'UTR			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	751						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCAGGAATCCCGTTCCGAAAG	0.587000													13	37					0	0	0.002450	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150128303	150128304	+	Frame_Shift_Ins	INS	-	-	AGTGTGAAGAG			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:150128303_150128304insAGTGTGAAGAG	ENST00000369124.4	+	3	499_500	c.221_222insAGTGTGAAGAG	c.(220-222)gtafs	p.V74fs	PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Frame_Shift_Ins_p.V74fs|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	74	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GACCTGAGTGACTATGAGAAGT	0.460													37	49	---	---	---	---					
FMN2	56776	broad.mit.edu	37	1	240256023	240256024	+	In_Frame_Ins	INS	-	-	GCA			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr1:240256023_240256024insGCA	ENST00000319653.9	+	1	844_845	c.614_615insGCA	c.(613-615)cca>cGCAca	p.205_205P>RT		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	205	Gln-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCGATCCGCCTgcagcagcagc	0.639													10	19	---	---	---	---					
LAMP3	27074	broad.mit.edu	37	3	182871520	182871521	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr3:182871520_182871521delAG	ENST00000265598.3	-	2	963_964	c.708_709delCT	c.(706-711)ctgtfs	p.LC236fs	LAMP3_ENST00000466939.1_Frame_Shift_Del_p.LC212fs	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	236					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)			GCTTTTATACAGAGTCTGCTTC	0.500													15	63	---	---	---	---					
FBXL18	80028	broad.mit.edu	37	7	5540665	5540666	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr7:5540665_5540666delAG	ENST00000382368.3	-	3	1357_1358	c.1234_1235delCT	c.(1234-1236)gfs	p.L412fs	FBXL18_ENST00000453700.3_Frame_Shift_Del_p.L412fs	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	412									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CAGGTGACGCAGCCGGGCCAGG	0.752													10	20	---	---	---	---					
AGAP2	116986	broad.mit.edu	37	12	58120931	58120951	+	In_Frame_Del	DEL	CAGCGGCTCCTCCGAGGTGCT	CAGCGGCTCCTCCGAGGTGCT	-			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr12:58120931_58120951delCAGCGGCTCCTCCGAGGTGCT	ENST00000257897.3	-	17	2159_2179	c.2074_2094delAGCACCTCGGAGGAGCCGCTG	c.(2074-2094)del	p.STSEEPL692del	AGAP2-AS1_ENST00000542466.2_In_Frame_Del_p.PSGSSEVL52del|AGAP2_ENST00000547588.1_In_Frame_Del_p.STSEEPL1048del	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	1048	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GCTGGCGGCCCAGCGGCTCCTCCGAGGTGCTCAGCGGCGCC	0.670											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	3	---	---	---	---					
DAZAP1	26528	broad.mit.edu	37	19	1428952	1428957	+	In_Frame_Del	DEL	GGCCAG	GGCCAG	-			TCGA-EE-A2A5-06A-11D-A197-08	TCGA-EE-A2A5-10A-01D-A199-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dafae8cb-1559-4da6-8a76-62c64cce2546	35635145-15a3-402c-ac05-772eb6c2163c	g.chr19:1428952_1428957delGGCCAG	ENST00000336761.6	+	8	863_868	c.658_663delGGCCAG	c.(658-663)del	p.GQ220del	DAZAP1_ENST00000233078.4_In_Frame_Del_p.GQ220del	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	220					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGCTGGGCAGGCCAGCCCCCGCCCA	0.689													11	7	---	---	---	---