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
SEMA5A	9037	broad.mit.edu	37	5	9197320	9197320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:9197320G>T	ENST00000382496.5	-	10	1693	c.1028C>A	c.(1027-1029)tCg>tAg	p.S343*		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	343	Sema.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TAGCCAGGCCGAGCGCGAGTT	0.587000													13	566					0.000308642	0.00435582	0.000308642	1	0
UBE2E3	10477	broad.mit.edu	37	2	181922476	181922476	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:181922476C>A	ENST00000410062.4	+	4	695	c.302C>A	c.(301-303)cCg>cAg	p.P101Q	UBE2E3_ENST00000602959.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000602837.1_3'UTR|UBE2E3_ENST00000602710.1_Missense_Mutation_p.P101Q|UBE2E3_ENST00000392415.2_Missense_Mutation_p.P101Q	NM_006357.2	NP_006348.1	Q969T4	UB2E3_HUMAN	ubiquitin-conjugating enzyme E2E 3	101				P -> L (in Ref. 3; AAP97266).	protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						CTTGGTCCACCGGGTTCTGTA	0.343000													12	1071					0.00010058	0.00173709	0.00010058	1	0
ZNF547	284306	broad.mit.edu	37	19	57883234	57883234	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:57883234C>A	ENST00000282282.3	+	3	259	c.109C>A	c.(109-111)Cgt>Agt	p.R37S	AC003002.4_ENST00000597658.1_Missense_Mutation_p.R37S	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	37	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTGCTGTACCGTGATGTGAT	0.512000													10	1211					0.000157383	0.00254253	0.000157383	1	0
HTR1A	3350	broad.mit.edu	37	5	63256897	63256897	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:63256897C>T	ENST00000323865.3	-	1	883	c.650G>A	c.(649-651)cGc>cAc	p.R217H	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	217					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TCGGAATATGCGCCCATAGAG	0.587000													6	662					0	0	8.12818e-05	0	0
QRICH2	84074	broad.mit.edu	37	17	74288268	74288268	+	Missense_Mutation	SNP	A	A	T	rs6501874	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:74288268A>T	ENST00000262765.5	-	4	2221	c.2042T>A	c.(2041-2043)gTt>gAt	p.V681D		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	681	Gln-rich.		V -> D (in dbSNP:rs6501874).				protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						accatgctgaactgcaccagg	0.562000													6	323					0	0	0.000673444	0	0
SLC27A2	11001	broad.mit.edu	37	15	50497538	50497538	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:50497538G>T	ENST00000267842.5	+	4	1182	c.950G>T	c.(949-951)cGg>cTg	p.R317L	SLC27A2_ENST00000544960.1_Missense_Mutation_p.R82L|SLC27A2_ENST00000380902.4_Missense_Mutation_p.R264L	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	317					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		GAACTGCTTCGGTATTTATGC	0.433000													13	624					3.45872e-05	0.000740545	0.000422831	1	0
POU4F2	5458	broad.mit.edu	37	4	147560372	147560372	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:147560372C>T	ENST00000281321.3	+	1	328	c.80C>T	c.(79-81)tCg>tTg	p.S27L		NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	27					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)					CCCAAGTACTCGGCACTGCAC	0.706000													6	77					0	0	3.59834e-05	0	0
MYO9B	4650	broad.mit.edu	37	19	17213368	17213368	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:17213368G>A	ENST00000595618.1	+	2	992		c.e2+1		MYO9B_ENST00000593411.1_Splice_Site|MYO9B_ENST00000397274.2_Splice_Site|MYO9B_ENST00000594824.1_Splice_Site	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB						actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TGTGCTGGAGGTGAGCGGGGA	0.607000													11	42					0	0	0.000673444	0	0
MUC4	4585	broad.mit.edu	37	3	195509171	195509171	+	Missense_Mutation	SNP	G	G	A	rs71634716		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:195509171G>A	ENST00000463781.3	-	2	9739	c.9280C>T	c.(9280-9282)Ctt>Ttt	p.L3094F	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L3094F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	835					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.L3094F(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACTGAGGAAAGGCTGGTGACA	0.602000													3	6					0	0	0.000602214	0	0
MYH8	4626	broad.mit.edu	37	17	10317271	10317271	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:10317271C>A	ENST00000403437.2	-	12	1189	c.1095G>T	c.(1093-1095)atG>atT	p.M365I	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	365	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCTTGAATTTCATGTTCCCAT	0.433000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				10	710					6.40141e-05	0.00117365	6.40141e-05	1	0
TAS2R4	50832	broad.mit.edu	37	7	141478656	141478656	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141478656G>T	ENST00000247881.2	+	1	415	c.368G>T	c.(367-369)cGg>cTg	p.R123L	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	123					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		CTGCTGAAGCGGAATATCTCC	0.478000													9	674					3.07112e-06	8.57171e-05	6.40141e-05	1	0
DYNC1I1	1780	broad.mit.edu	37	7	95614201	95614201	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:95614201C>A	ENST00000324972.6	+	8	899	c.706C>A	c.(706-708)Cgg>Agg	p.R236R	DYNC1I1_ENST00000457059.1_Silent_p.R219R|DYNC1I1_ENST00000359388.4_Silent_p.R199R|DYNC1I1_ENST00000447467.2_Silent_p.R219R|DYNC1I1_ENST00000437599.1_Silent_p.R216R|DYNC1I1_ENST00000537881.1_Silent_p.R199R	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	236					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CTTTTTTGACCGGACAATACG	0.398000													8	544					0.000442599	0.00556767	0.000442599	1	0
XCR1	2829	broad.mit.edu	37	3	46062772	46062772	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46062772G>A	ENST00000309285.3	-	2	1024	c.668C>T	c.(667-669)aCg>aTg	p.T223M	XCR1_ENST00000542109.1_Missense_Mutation_p.T223M	NM_001024644.1	NP_001019815.1	P46094	XCR1_HUMAN	chemokine (C motif) receptor 1	223					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GAGCTTGACCGTGCGGTGGCG	0.582000													21	200					0	0	0.000295444	0	0
RCOR3	55758	broad.mit.edu	37	1	211469083	211469083	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:211469083C>A	ENST00000367005.4	+	8	972	c.831C>A	c.(829-831)ttC>ttA	p.F277L	RCOR3_ENST00000367006.4_Missense_Mutation_p.F335L|RCOR3_ENST00000452621.2_Missense_Mutation_p.F335L|RCOR3_ENST00000419091.2_Missense_Mutation_p.F335L	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		TTGAAGAATTCAAACCTCCTG	0.353000													7	262					2.17888e-05	0.00047966	0.000442599	1	0
ZFP14	57677	broad.mit.edu	37	19	36831324	36831324	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:36831324G>A	ENST00000270001.7	-	5	1519	c.1404C>T	c.(1402-1404)acC>acT	p.T468T		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T468T(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TCTGATGTTGGGTAAGTTGTG	0.373000													7	427					0	0	0.000274275	0	0
TMOD4	29765	broad.mit.edu	37	1	151143009	151143009	+	Missense_Mutation	SNP	C	C	A	rs148198423		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:151143009C>A	ENST00000416280.2	-	7	893	c.794G>T	c.(793-795)cGa>cTa	p.R265L				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	334					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TTCATTGTTTCGGGTCATGGC	0.537000													8	759					6.40141e-05	0.00117365	6.40141e-05	1	0
ZC3H12B	340554	broad.mit.edu	37	X	64719034	64719034	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64719034C>A	ENST00000338957.4	+	3	971	c.904C>A	c.(904-906)Cga>Aga	p.R302R	ZC3H12B_ENST00000423889.3_Silent_p.R291R	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	291							endonuclease activity|nucleic acid binding|zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGATAACTACCGAGACCTTCA	0.443000													7	336					2.7689e-08	9.72536e-07	8.12818e-05	1	0
SVIL	6840	broad.mit.edu	37	10	29788191	29788191	+	Splice_Site	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:29788191C>A	ENST00000375398.2	-	20	3967	c.3516_splice	c.e20-1	p.R1173_splice	SVIL_ENST00000375400.3_Splice_Site_p.R747_splice|SVIL_ENST00000535393.1_Splice_Site_p.R87_splice|SVIL_ENST00000355867.4_Splice_Site_p.R1173_splice			O95425	SVIL_HUMAN	supervillin	1173					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTCTGTGACCCGCTGTTCATA	0.507000													8	453					2.17888e-05	0.00047966	0.000442599	1	0
SEC63	11231	broad.mit.edu	37	6	108233927	108233927	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:108233927G>T	ENST00000369002.4	-	6	745	c.566C>A	c.(565-567)tCa>tAa	p.S189*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	189					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CACCAGAATTGAGTTTTTCTG	0.318000													7	293					1.12685e-05	0.000275198	0.000274275	1	0
FANCI	55215	broad.mit.edu	37	15	89828362	89828362	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:89828362C>A	ENST00000310775.7	+	18	1820	c.1734C>A	c.(1732-1734)gtC>gtA	p.V578V	FANCI_ENST00000300027.8_Silent_p.V578V	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	578					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACAATTCTGTCGCCAATGAAA	0.423000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				11	662					9.31168e-06	0.000235695	0.000151284	1	0
NIF3L1	60491	broad.mit.edu	37	2	201760066	201760066	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201760066C>A	ENST00000409020.1	+	4	973	c.679C>A	c.(679-681)Cgg>Agg	p.R227R	NIF3L1_ENST00000359683.4_Silent_p.R200R|NIF3L1_ENST00000409588.1_Silent_p.R227R|NIF3L1_ENST00000416651.1_Silent_p.R227R|NIF3L1_ENST00000409357.1_Silent_p.R227R			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	227					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						TTTTCTTTCCCGGAACAAACA	0.373000													10	540					3.86212e-05	0.000778902	0.000673444	1	0
DDB1	1642	broad.mit.edu	37	11	61070620	61070620	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:61070620C>A	ENST00000301764.7	-	23	3237	c.2840G>T	c.(2839-2841)cGa>cTa	p.R947L	DDB1_ENST00000450997.2_Missense_Mutation_p.R258L|DDB1_ENST00000538470.1_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	947	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						ATTAAAGTCTCGAGCAATCTT	0.413000								Nucleotide excision repair (NER)					8	545					0.000442599	0.00556767	0.000442599	1	0
HUNK	30811	broad.mit.edu	37	21	33312484	33312484	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:33312484A>G	ENST00000270112.2	+	3	922	c.562A>G	c.(562-564)Aag>Gag	p.K188E		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	188	Protein kinase.				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						CAGAGACTTGAAGATAGAGAA	0.299000													12	233					0	0	0.000219431	0	0
STAP1	26228	broad.mit.edu	37	4	68436855	68436855	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68436855C>A	ENST00000265404.2	+	2	256	c.174C>A	c.(172-174)acC>acA	p.T58T	STAP1_ENST00000396225.1_Silent_p.T58T	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	58	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCTTTTATACCGACAAAAAGA	0.328000													12	840					5.50884e-06	0.000142319	0.00010058	1	0
HMGB1P5	0	broad.mit.edu	37	3	22424061	22424061	+	RNA	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:22424061T>A	ENST00000451497.1	+	0	626																											GTAAGATTTGTTTTTAAACTG	0.338000													12	92					0	0	6.40141e-05	0	0
UPF3A	65110	broad.mit.edu	37	13	115057115	115057115	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:115057115C>A	ENST00000375299.3	+	7	750	c.694C>A	c.(694-696)Cga>Aga	p.R232R	UPF3A_ENST00000475218.2_3'UTR|UPF3A_ENST00000351487.5_Silent_p.R199R	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	232					mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	p.R232*(1)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		TTAGAGAATTCgagaagagaa	0.448000													14	851					0.000566183	0.00706542	0.000566183	1	0
ZNF91	7644	broad.mit.edu	37	19	23544724	23544724	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:23544724T>C	ENST00000300619.7	-	4	1262	c.1057A>G	c.(1057-1059)Aaa>Gaa	p.K353E	ZNF91_ENST00000397082.2_Missense_Mutation_p.K321E|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	353						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K353E(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCACATTCTTTACATTTGTAG	0.373000													9	335					0	0	0.000422831	0	0
CXorf48	54967	broad.mit.edu	37	X	134294414	134294414	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:134294414C>A	ENST00000344129.2	-	3	572	c.346G>T	c.(346-348)Gga>Tga	p.G116*	CXorf48_ENST00000276241.6_Nonsense_Mutation_p.G116*	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	116										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GTAACACATCCAATTAAAACT	0.328000													7	297					0.000157383	0.00254253	0.000157383	1	0
POMT2	29954	broad.mit.edu	37	14	77751907	77751907	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:77751907G>T	ENST00000261534.4	-	13	1603	c.1401C>A	c.(1399-1401)atC>atA	p.I467I		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	467	MIR 3.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCAGCACTTTGATCCGGTTTC	0.453000													14	1522					0.000274275	0.0039602	0.000274275	1	0
ALPK3	57538	broad.mit.edu	37	15	85366575	85366575	+	Missense_Mutation	SNP	G	G	T	rs145993158	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85366575G>T	ENST00000258888.5	+	2	931	c.764G>T	c.(763-765)cGg>cTg	p.R255L		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	255					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TCAAGCAACCGGTTGTCTCAC	0.453000													8	664					9.31168e-06	0.000235695	0.000151284	1	0
OR52E8	390079	broad.mit.edu	37	11	5878217	5878217	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:5878217C>A	ENST00000537935.1	-	1	747	c.716G>T	c.(715-717)cGa>cTa	p.R239L	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTTTGAGTCGAGCTTCCCA	0.418000													10	565					3.07112e-06	8.57171e-05	6.40141e-05	1	0
ANGPTL7	10218	broad.mit.edu	37	1	11252368	11252368	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:11252368C>A	ENST00000376819.3	+	2	657	c.418C>A	c.(418-420)Cgc>Agc	p.R140S	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	140	Fibrinogen C-terminal.		R -> H (in dbSNP:rs28991002).		response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAACTACCGCATCTCTGG	0.512000													10	911					0.000673444	0.00785517	0.000673444	1	0
GRK4	2868	broad.mit.edu	37	4	3030990	3030990	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:3030990C>A	ENST00000398052.4	+	12	1466	c.1123C>A	c.(1123-1125)Ctg>Atg	p.L375M	GRK4_ENST00000398051.4_Missense_Mutation_p.L343M|GRK4_ENST00000345167.6_Missense_Mutation_p.L343M|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000504933.1_Missense_Mutation_p.L375M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	375	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTGGCTGTCTGATCTATGA	0.368000													8	423					1.12685e-05	0.000275198	0.000274275	1	0
MAP2K4	6416	broad.mit.edu	37	17	12013744	12013744	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:12013744G>T	ENST00000415385.3	+	7	771		c.e7+1		MAP2K4_ENST00000353533.5_Splice_Site			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4						cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		ATTCACAGAGGTGGGTATGGA	0.308000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								46	403					2.55665e-31	1.03793e-29	0.000781405	1	0
SLC38A1	81539	broad.mit.edu	37	12	46623409	46623409	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:46623409C>A	ENST00000398637.5	-	4	830	c.136G>T	c.(136-138)Gat>Tat	p.D46Y	SLC38A1_ENST00000552197.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549049.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000439706.1_Missense_Mutation_p.D46Y|SLC38A1_ENST00000546893.1_Missense_Mutation_p.D46Y	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	46					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CTTTCACGATCAGAAATAAAC	0.284000													15	987					0.000308642	0.00435582	0.000308642	1	0
KLHL32	114792	broad.mit.edu	37	6	97575296	97575296	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:97575296G>T	ENST00000369261.4	+	8	1734	c.1371G>T	c.(1369-1371)acG>acT	p.T457T	KLHL32_ENST00000544166.1_Silent_p.T13T|KLHL32_ENST00000536676.1_Silent_p.T421T|KLHL32_ENST00000539200.1_Silent_p.T388T	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	457										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		TAACTAATACGGCACAATATC	0.318000													9	707					0.000442599	0.00556767	0.000442599	1	0
TPO	7173	broad.mit.edu	37	2	1497610	1497610	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:1497610G>A	ENST00000345913.4	+	11	1896	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000346956.3_Missense_Mutation_p.R602H|TPO_ENST00000382201.3_Missense_Mutation_p.R545H|TPO_ENST00000329066.4_Missense_Mutation_p.R602H|TPO_ENST00000337415.3_Missense_Mutation_p.R602H|TPO_ENST00000349624.3_Missense_Mutation_p.R429H|TPO_ENST00000382198.1_Missense_Mutation_p.R429H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	602					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGCCTGCCTCGCCTGGAGACC	0.577000													23	115					0	0	0.000586117	0	0
ELL	8178	broad.mit.edu	37	19	18556040	18556040	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:18556040G>T	ENST00000262809.4	-	11	1814	c.1743C>A	c.(1741-1743)atC>atA	p.I581I		NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	581					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TCACCTTTTTGATTTTTCGAT	0.512000			T	MLL	AL								15	1125					0.00010058	0.00173709	0.00010058	1	0
ABCD3	5825	broad.mit.edu	37	1	94956786	94956786	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:94956786C>A	ENST00000370214.4	+	16	1393	c.1369C>A	c.(1369-1371)Cga>Aga	p.R457R	ABCD3_ENST00000454898.2_Silent_p.R481R|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_Silent_p.R347R|ABCD3_ENST00000536817.1_Silent_p.R384R	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	457	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGTTTTGATCCGAGACCTTAA	0.264000													7	426					0.000442599	0.00556767	0.000442599	1	0
FAM129A	116496	broad.mit.edu	37	1	184777291	184777291	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:184777291C>A	ENST00000367511.3	-	10	1445	c.1252G>T	c.(1252-1254)Gag>Tag	p.E418*	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	418					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGCAGGCGCTCGTGAAGCAGG	0.517000													9	387					0.000442599	0.00556767	0.000442599	1	0
AGO4	192670	broad.mit.edu	37	1	36291547	36291547	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:36291547C>A	ENST00000373210.3	+	6	891	c.646C>A	c.(646-648)Cgg>Agg	p.R216R		NM_017629.3	NP_060099.2			argonaute RISC catalytic component 4																		TGCTTTCTACCGGGCTCAGCC	0.423000													10	930					0.000673444	0.00785517	0.000673444	1	0
TUBB8P7	0	broad.mit.edu	37	16	90161602	90161602	+	RNA	SNP	T	T	C	rs150689786	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:90161602T>C	ENST00000567960.1	+	0	338				TUBB8P7_ENST00000564451.1_RNA																							GCGGAGCTGATGGAGTCAGTG	0.612000													5	148					0	0	0.000442599	0	0
COL3A1	1281	broad.mit.edu	37	2	189858794	189858794	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:189858794G>T	ENST00000304636.3	+	17	1350	c.1180G>T	c.(1180-1182)Ggt>Tgt	p.G394C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G394C	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	394	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)	TAGTCCTGGTGGTAAAGGCGA	0.373000													7	397					0.000274275	0.0039602	0.000274275	1	0
GARNL3	84253	broad.mit.edu	37	9	130027240	130027240	+	Silent	SNP	G	G	T	rs141855938		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:130027240G>T	ENST00000373387.4	+	1	436	c.84G>T	c.(82-84)tcG>tcT	p.S28S	GARNL3_ENST00000435213.2_Silent_p.S6S|GARNL3_ENST00000314904.5_Silent_p.S28S	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	28					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						GCTCTGTCTCGGAAGACCTAG	0.423000													10	775					1.08611e-07	3.69041e-06	6.40141e-05	1	0
AP1B1	162	broad.mit.edu	37	22	29763226	29763226	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:29763226C>A	ENST00000357586.2	-	2	193	c.7G>T	c.(7-9)Gac>Tac	p.D3Y	AP1B1_ENST00000405198.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.D3Y|AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000402502.1_Missense_Mutation_p.D3Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.D3Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.D3Y	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	3					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TATTTTGAGTCAGTCATTTTG	0.438000													9	373					0.000673444	0.00785517	0.000673444	1	0
LRGUK	136332	broad.mit.edu	37	7	133827903	133827903	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:133827903C>A	ENST00000285928.2	+	4	645	c.576C>A	c.(574-576)ccC>ccA	p.P192P		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	192							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						TCAAGCCACCCAAAAACCTCA	0.343000													8	559					5.4927e-09	2.00821e-07	0.000274275	1	0
LPHN2	23266	broad.mit.edu	37	1	82436119	82436119	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:82436119C>A	ENST00000370728.1	+	18	3488	c.2843C>A	c.(2842-2844)tCa>tAa	p.S948*	LPHN2_ENST00000370727.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000271029.4_Nonsense_Mutation_p.S948*|LPHN2_ENST00000359929.3_Nonsense_Mutation_p.S935*|LPHN2_ENST00000335786.5_Nonsense_Mutation_p.S948*|LPHN2_ENST00000394879.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370713.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370717.2_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370715.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370723.1_Nonsense_Mutation_p.S935*|LPHN2_ENST00000319517.6_Nonsense_Mutation_p.S935*|LPHN2_ENST00000370721.1_Nonsense_Mutation_p.S873*|LPHN2_ENST00000370725.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000370730.1_Nonsense_Mutation_p.S948*|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	948					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGTGAATATTCAAGGAAAAAA	0.388000													11	470					0.00010058	0.00173709	0.00010058	1	0
OR4K5	79317	broad.mit.edu	37	14	20389709	20389709	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:20389709C>A	ENST00000315915.4	+	1	969	c.944C>A	c.(943-945)tCa>tAa	p.S315*		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTGAAATGTCACTAGTAGTG	0.353000													14	1050					0.00010058	0.00173709	0.00010058	1	0
SPATA22	84690	broad.mit.edu	37	17	3370750	3370750	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:3370750C>A	ENST00000573128.1	-	3	625	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	SPATA22_ENST00000355380.4_Intron|SPATA22_ENST00000541913.1_Intron|SPATA22_ENST00000572969.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000397168.3_Missense_Mutation_p.D48Y|SPATA22_ENST00000575375.1_Missense_Mutation_p.D48Y|SPATA22_ENST00000268981.5_Missense_Mutation_p.D48Y			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	48										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TCATAATTGTCAGAAGGGGTA	0.328000													11	562					1.67942e-08	5.99983e-07	0.00074312	1	0
PCYOX1	51449	broad.mit.edu	37	2	70502134	70502134	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:70502134G>T	ENST00000433351.2	+	4	566	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	PCYOX1_ENST00000264441.5_Nonsense_Mutation_p.E180*|PCYOX1_ENST00000545138.1_Nonsense_Mutation_p.E102*|PCYOX1_ENST00000505044.2_Nonsense_Mutation_p.E103*	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	180					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGTAGTGTCGAAAAATTACT	0.423000													12	557					6.40141e-05	0.00117365	6.40141e-05	1	0
TGFB2	7042	broad.mit.edu	37	1	218578555	218578555	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:218578555C>A	ENST00000366929.4	+	3	942	c.475C>A	c.(475-477)Cga>Aga	p.R159R	TGFB2_ENST00000366930.4_Silent_p.R131R	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	131					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	p.R131*(1)		breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		CAGAATTGTTCGATTTGACGT	0.418000													14	1075					1.49906e-05	0.000353665	0.000219431	1	0
NBR1	4077	broad.mit.edu	37	17	41341806	41341806	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:41341806C>A	ENST00000422280.1	+	8	1141	c.682C>A	c.(682-684)Cgc>Agc	p.R228S	NBR1_ENST00000589872.1_Missense_Mutation_p.R228S|NBR1_ENST00000389312.4_Missense_Mutation_p.R228S|NBR1_ENST00000341165.6_Missense_Mutation_p.R228S|NBR1_ENST00000590996.1_Missense_Mutation_p.R228S|NBR1_ENST00000542611.1_Missense_Mutation_p.R207S	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	228					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TGTTGGTGTCCGCTACCAGTG	0.438000													9	606					2.80697e-09	1.03231e-07	6.40141e-05	1	0
CBWD1	55871	broad.mit.edu	37	9	172100	172100	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:172100G>T	ENST00000377447.3	-	4	466	c.411C>A	c.(409-411)acC>acA	p.T137T	CBWD1_ENST00000314367.10_Silent_p.T101T|CBWD1_ENST00000382447.4_Silent_p.T137T|CBWD1_ENST00000356521.4_Silent_p.T137T|CBWD1_ENST00000431099.2_Silent_p.T101T|CBWD1_ENST00000377400.4_Silent_p.T137T|CBWD1_ENST00000382393.1_3'UTR			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	137							ATP binding|protein binding			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTAATCCAGTGGTCTCTAACA	0.338000													14	2005					3.59834e-05	0.000765197	3.59834e-05	1	0
PDE8A	5151	broad.mit.edu	37	15	85607643	85607643	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85607643C>A	ENST00000310298.4	+	3	481	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	PDE8A_ENST00000394553.1_Missense_Mutation_p.Q77K|PDE8A_ENST00000339708.5_Missense_Mutation_p.Q77K|PDE8A_ENST00000557957.1_Missense_Mutation_p.Q5K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	77					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			GAGATTTCATCAAGATCAACT	0.363000													8	436					0.000274275	0.0039602	0.000274275	1	0
HTR2C	3358	broad.mit.edu	37	X	114141360	114141360	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:114141360C>A	ENST00000276198.1	+	6	1487	c.759C>A	c.(757-759)acC>acA	p.T253T	HTR2C_ENST00000371951.1_Silent_p.T253T|HTR2C_ENST00000371950.3_Silent_p.R222R	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	253					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.T253T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ACGGCCACACCGAGGAACCGC	0.512000													11	1170					0.000442599	0.00556767	0.000442599	1	0
DEFB119	245932	broad.mit.edu	37	20	29976964	29976964	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:29976964C>T	ENST00000376315.2	-	2	130	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	DEFB119_ENST00000339144.3_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000492344.1_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	50					defense response to bacterium	extracellular region		p.R44Q(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTACGATTTCGGCAGCGTAT	0.453000													12	492					0	0	0.00010058	0	0
KLHL24	54800	broad.mit.edu	37	3	183388894	183388894	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183388894C>A	ENST00000454652.1	+	7	1683	c.1297C>A	c.(1297-1299)Cga>Aga	p.R433R	KLHL24_ENST00000242810.6_Silent_p.R433R|KLHL24_ENST00000476808.1_Silent_p.R433R			Q6TFL4	KLH24_HUMAN	kelch-like family member 24	433						axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			CTTTTCAAATCGATGGACTGA	0.418000													10	658					2.17888e-05	0.00047966	0.000442599	1	0
KRT24	192666	broad.mit.edu	37	17	38857542	38857542	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:38857542C>T	ENST00000264651.2	-	3	761	c.705G>A	c.(703-705)gaG>gaA	p.E235E		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	235	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				ACAGCTCGTTCTCATACCTGG	0.512000													19	143					0	0	0.000132079	0	0
OR5T3	390154	broad.mit.edu	37	11	56020051	56020051	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56020051G>T	ENST00000303059.3	+	1	376	c.376G>T	c.(376-378)Gga>Tga	p.G126*		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363000													8	793					0.000442599	0.00556767	0.000442599	1	0
MSLNL	401827	broad.mit.edu	37	16	830540	830540	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:830540G>A	ENST00000293892.3	-	3	460	c.461C>T	c.(460-462)cCg>cTg	p.P154L	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CAGTGTGCACGGGTAGGTGAC	0.557000													6	645					0	0	3.59834e-05	0	0
DBT	1629	broad.mit.edu	37	1	100672084	100672084	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:100672084G>T	ENST00000370132.3	-	9	1139	c.1126C>A	c.(1126-1128)Cgc>Agc	p.R376S		NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2	376					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding	p.R376S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCTGGAGGCGGTTCAGTTCA	0.423000													12	1206					3.86212e-05	0.000778902	0.000673444	1	0
ZNFX1	57169	broad.mit.edu	37	20	47887028	47887028	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:47887028G>T	ENST00000396105.1	-	3	1567	c.1321C>A	c.(1321-1323)Cgc>Agc	p.R441S	ZNFX1_ENST00000371752.1_Missense_Mutation_p.R441S|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R441S	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	441							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTCTGCCAGCGAACAAACTTC	0.448000													10	706					2.17888e-05	0.00047966	0.000442599	1	0
WWC2	80014	broad.mit.edu	37	4	184190214	184190214	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:184190214C>A	ENST00000403733.3	+	15	2497	c.2298C>A	c.(2296-2298)ttC>ttA	p.F766L	WWC2_ENST00000378925.3_Missense_Mutation_p.F668L|WWC2_ENST00000448232.2_Missense_Mutation_p.F766L|WWC2_ENST00000513834.1_Missense_Mutation_p.F717L|WWC2_ENST00000504005.1_Missense_Mutation_p.F448L|WWC2_ENST00000506225.1_3'UTR	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	766	C2.									NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CCATTTTATTCAATGATGTGT	0.448000													10	611					4.36969e-10	1.67603e-08	0.000151284	1	0
IL13RA1	3597	broad.mit.edu	37	X	117925772	117925772	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117925772C>A	ENST00000371666.3	+	11	1306	c.1239C>A	c.(1237-1239)acC>acA	p.T413T	IL13RA1_ENST00000371637.3_Silent_p.T212T	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	413						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGGAGGAAACCGACTCTGTAG	0.393000													9	510					2.17888e-05	0.00047966	0.000442599	1	0
ACACB	32	broad.mit.edu	37	12	109610126	109610126	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:109610126C>A	ENST00000338432.7	+	6	1201	c.1082C>A	c.(1081-1083)cCg>cAg	p.P361Q	ACACB_ENST00000377854.5_Missense_Mutation_p.P361Q|ACACB_ENST00000377848.3_Missense_Mutation_p.P361Q			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	361	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCTAAACTTCCGGAGCTGCTG	0.517000													9	857					0.000442599	0.00556767	0.000442599	1	0
ZNF431	170959	broad.mit.edu	37	19	21366085	21366085	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:21366085C>A	ENST00000311048.7	+	5	1123	c.979C>A	c.(979-981)Cag>Aag	p.Q327K	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTTTTAACCAGTCTTCAAC	0.403000													9	356					7.48243e-07	2.35076e-05	0.000442599	1	0
PPIL4	85313	broad.mit.edu	37	6	149842225	149842225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:149842225G>T	ENST00000253329.2	-	10	985	c.953C>A	c.(952-954)tCg>tAg	p.S318*		NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	318	RRM.				protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		CTTTGCAACCGACTGGCTAAA	0.333000													9	558					0.000673444	0.00785517	0.000673444	1	0
SLC35G3	146861	broad.mit.edu	37	17	33521042	33521042	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:33521042C>A	ENST00000297307.5	-	1	370	c.285G>T	c.(283-285)ctG>ctT	p.L95L		NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN	solute carrier family 35, member G3	95	DUF6 1.					integral to membrane											CAGGAGTTCCCAGAAGGGGGT	0.602000													8	699					3.86212e-05	0.000778902	0.000673444	1	0
KRAS	3845	broad.mit.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	G	rs121913530		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:25398285C>G	ENST00000311936.3	-	2	225	c.34G>C	c.(34-36)Ggt>Cgt	p.G12R	KRAS_ENST00000256078.4_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000556131.1_Missense_Mutation_p.G12R	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		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	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348000	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			22	292					0	0	0.000375601	0	0
FANCD2	2177	broad.mit.edu	37	3	10123132	10123132	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:10123132C>A	ENST00000287647.3	+	32	3301	c.3208C>A	c.(3208-3210)Cat>Aat	p.H1070N	FANCD2OS_ENST00000524279.1_3'UTR|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000383806.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000419585.1_Missense_Mutation_p.H1070N|FANCD2_ENST00000383807.1_Missense_Mutation_p.H1070N	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1070					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAGATTTTTCATGGGCTTTT	0.423000			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				14	998					0.000151284	0.00252221	0.000151284	1	0
SSTR5	0	broad.mit.edu	37	16	1129733	1129733	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:1129733G>A	ENST00000293897.4	+	1	953	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	SSTR5_ENST00000562758.1_Intron|SSTR5_ENST00000397547.2_Missense_Mutation_p.V289M	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	289					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CTACTTCTTCGTGGTCATCCT	0.622000													32	164					0	0	0.000814825	0	0
LAMA2	3908	broad.mit.edu	37	6	129636778	129636778	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:129636778C>A	ENST00000421865.2	+	25	3762	c.3713C>A	c.(3712-3714)cCa>cAa	p.P1238Q		NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1238	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGAAACTTCCAGAACAATTT	0.373000													7	307					0.000157383	0.00254253	0.000157383	1	0
SAMHD1	25939	broad.mit.edu	37	20	35533826	35533826	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:35533826G>T	ENST00000262878.4	-	12	1550	c.1351C>A	c.(1351-1353)Cgt>Agt	p.R451S		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	451					defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATAGATTACGGTATTCAATT	0.348000													13	749					0.000219431	0.00342116	0.000219431	1	0
HHIPL1	84439	broad.mit.edu	37	14	100123403	100123403	+	Silent	SNP	C	C	T	rs140994822		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:100123403C>T	ENST00000330710.5	+	3	1067	c.969C>T	c.(967-969)gaC>gaT	p.D323D	HHIPL1_ENST00000357223.2_Silent_p.D323D	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	323					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				TCGGGGATGACGGGTACCTCT	0.512000													154	1208					0	0	0.000781405	0	0
KLHDC2	23588	broad.mit.edu	37	14	50241390	50241390	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:50241390C>A	ENST00000298307.5	+	3	1206	c.345C>A	c.(343-345)acC>acA	p.T115T	KLHDC2_ENST00000554589.1_Silent_p.T115T|KLHDC2_ENST00000557247.1_Silent_p.T115T|KLHDC2_ENST00000553538.1_3'UTR	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	115						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					GAGGCAATACCAATAAGGTTA	0.403000													10	853					5.50884e-06	0.000142319	0.00010058	1	0
WSB1	26118	broad.mit.edu	37	17	25628876	25628876	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:25628876C>A	ENST00000262394.2	+	2	419	c.103C>A	c.(103-105)Cgt>Agt	p.R35S	WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000348811.2_Intron|WSB1_ENST00000579733.1_Intron|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000427287.2_Intron|WSB1_ENST00000581185.1_Missense_Mutation_p.R35S	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	35					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GAAATGTGGTCGTGAAAATTG	0.398000													12	857					0.000308642	0.00435582	0.000308642	1	0
TTK	7272	broad.mit.edu	37	6	80718204	80718204	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:80718204C>A	ENST00000509894.1	+	4	1293	c.464C>A	c.(463-465)tCa>tAa	p.S155*	TTK_ENST00000230510.3_Nonsense_Mutation_p.S155*|TTK_ENST00000369798.2_Nonsense_Mutation_p.S155*			P33981	TTK_HUMAN	TTK protein kinase	155					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGAACTGTCACAAGGTAAT	0.303000													9	405					1.58986e-06	4.62318e-05	0.000673444	1	0
NSD1	64324	broad.mit.edu	37	5	176562201	176562201	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:176562201G>T	ENST00000439151.2	+	2	142	c.97G>T	c.(97-99)Ggt>Tgt	p.G33C	NSD1_ENST00000361032.4_Missense_Mutation_p.G33C|NSD1_ENST00000354179.4_Splice_Site_p.S10_splice|NSD1_ENST00000511258.1_Splice_Site_p.S10_splice|NSD1_ENST00000347982.4_Splice_Site_p.S10_splice	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	33					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGCCCTTTCGGTAATGGTCA	0.448000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			12	577					2.31682e-05	0.000501203	0.000308642	1	0
TEKT4	150483	broad.mit.edu	37	2	95541370	95541370	+	Missense_Mutation	SNP	C	C	T	rs112344899	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:95541370C>T	ENST00000295201.4	+	5	1111	c.974C>T	c.(973-975)gCg>gTg	p.A325V	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	325					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CACAACGTGGCGGCACTGAAG	0.607000													33	278					0	0	0.000339439	0	0
HHIP	64399	broad.mit.edu	37	4	145636516	145636516	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:145636516G>T	ENST00000296575.3	+	10	2267	c.1612G>T	c.(1612-1614)Ggc>Tgc	p.G538C		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	538						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		ACTCTGTCTCGGCACTAGTGG	0.418000													9	559					0.000673444	0.00785517	0.000673444	1	0
CLEC18B	497190	broad.mit.edu	37	16	74443519	74443519	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:74443519A>T	ENST00000339953.5	-	12	1380	c.1259T>A	c.(1258-1260)cTg>cAg	p.L420Q		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	420	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TGAAGCCTGCAGCTCCACGCA	0.597000													20	361					0	0	0.000184323	0	0
MORC2	22880	broad.mit.edu	37	22	31328956	31328956	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:31328956G>A	ENST00000215862.4	-	23	3619	c.2256C>T	c.(2254-2256)gcC>gcT	p.A752A	MORC2_ENST00000397641.2_Silent_p.A814A	NM_014941.1	NP_055756.1	Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	814							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CCACCTCCACGGCTGTGACAC	0.572000													154	658					0	0	0.000781405	0	0
KIAA0430	9665	broad.mit.edu	37	16	15719310	15719310	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:15719310G>T	ENST00000396368.3	-	8	2078	c.1872C>A	c.(1870-1872)tcC>tcA	p.S624S	KIAA0430_ENST00000602337.1_Silent_p.S621S|KIAA0430_ENST00000344181.3_Intron|KIAA0430_ENST00000551742.1_Silent_p.S623S|KIAA0430_ENST00000548025.1_Silent_p.S621S|KIAA0430_ENST00000540441.2_Intron	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	623						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CTTTGGCACTGGAAGATTGTT	0.368000													8	603					6.40141e-05	0.00117365	6.40141e-05	1	0
DCAF6	55827	broad.mit.edu	37	1	167921055	167921055	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:167921055C>A	ENST00000367840.3	+	2	209	c.115C>A	c.(115-117)Caa>Aaa	p.Q39K	DCAF6_ENST00000312263.6_Missense_Mutation_p.Q39K|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000432587.2_Missense_Mutation_p.Q39K|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q39K	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	39					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGAATTTATCCAAAGATTAAA	0.303000													8	766					6.40141e-05	0.00117365	6.40141e-05	1	0
POLQ	10721	broad.mit.edu	37	3	121192257	121192257	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121192257G>T	ENST00000264233.5	-	21	6611	c.6483C>A	c.(6481-6483)acC>acA	p.T2161T		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2161					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCCTCTTCTGGTAGAACCCA	0.443000								DNA polymerases (catalytic subunits)					11	1037					0.00010058	0.00173709	0.00010058	1	0
HECTD4	283450	broad.mit.edu	37	12	112708208	112708208	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:112708208C>A	ENST00000550722.1	-	12	1961	c.1566G>T	c.(1564-1566)gcG>gcT	p.A522A	HECTD4_ENST00000430131.2_Silent_p.A234A|HECTD4_ENST00000377560.5_Silent_p.A484A	NM_001109662.3	NP_001103132.3			HECT domain containing E3 ubiquitin protein ligase 4																		GTATGCACATCGCACCAACGT	0.433000													9	917					0.00010058	0.00173709	0.00010058	1	0
ASPM	259266	broad.mit.edu	37	1	197086945	197086945	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197086945G>T	ENST00000367409.4	-	17	4295	c.4039C>A	c.(4039-4041)Caa>Aaa	p.Q1347K	ASPM_ENST00000367408.1_Missense_Mutation_p.Q597K|ASPM_ENST00000294732.7_Missense_Mutation_p.Q1347K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1347	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTTTATTTTGAACTTTTTCC	0.289000													12	798					0.00010058	0.00173709	0.00010058	1	0
DNAJB9	4189	broad.mit.edu	37	7	108212278	108212278	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:108212278G>T	ENST00000249356.3	+	2	654	c.108G>T	c.(106-108)tcG>tcT	p.S36S	DNAJB9_ENST00000465725.1_3'UTR	NM_012328.2	NP_036460.1	Q9UBS3	DNJB9_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 9	36	J.				ER-associated protein catabolic process|protein folding	endoplasmic reticulum|nucleolus	heat shock protein binding|misfolded protein binding|unfolded protein binding			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13						TGCCAAAATCGGCATCAGAGC	0.413000													8	632					0.000274275	0.0039602	0.000274275	1	0
ANKEF1	63926	broad.mit.edu	37	20	10025144	10025144	+	Missense_Mutation	SNP	G	G	T	rs139520957	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:10025144G>T	ENST00000378380.3	+	4	978	c.649G>T	c.(649-651)Gac>Tac	p.D217Y	ANKEF1_ENST00000488991.1_3'UTR|ANKEF1_ENST00000378392.1_Missense_Mutation_p.D217Y|SNAP25-AS1_ENST00000603542.1_RNA|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1			ankyrin repeat and EF-hand domain containing 1																		ATTTGACAACGACAGGCATCA	0.413000													12	675					0.000219431	0.00342116	0.000219431	1	0
SLC25A12	8604	broad.mit.edu	37	2	172712428	172712428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:172712428C>A	ENST00000422440.2	-	4	278	c.241G>T	c.(241-243)Gaa>Taa	p.E81*	SLC25A12_ENST00000472748.1_5'UTR|SLC25A12_ENST00000392592.4_Intron	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	81					gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAAACAGATTCAAATGCCAAA	0.388000													11	837					1.08611e-07	3.69041e-06	6.40141e-05	1	0
RBM25	58517	broad.mit.edu	37	14	73578904	73578904	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:73578904C>A	ENST00000261973.7	+	17	2622	c.2337C>A	c.(2335-2337)atC>atA	p.I779I	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.I779I	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	779	PWI.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAAGAAAATCATAGAATATA	0.303000													12	974					6.40141e-05	0.00117365	6.40141e-05	1	0
TTC3	7267	broad.mit.edu	37	21	38501361	38501361	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:38501361C>A	ENST00000399017.2	+	16	4103	c.1356C>A	c.(1354-1356)ttC>ttA	p.F452L	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000540756.1_Missense_Mutation_p.F142L|TTC3_ENST00000355666.1_Missense_Mutation_p.F452L|TTC3_ENST00000354749.2_Missense_Mutation_p.F452L	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	452					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CAGAAAAGTTCAGGTATGTTT	0.299000													8	380					0.000157383	0.00254253	0.000157383	1	0
MFN1	55669	broad.mit.edu	37	3	179083014	179083014	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:179083014G>A	ENST00000471841.1	+	7	879		c.e7+1		MFN1_ENST00000263969.5_Splice_Site|MFN1_ENST00000280653.7_Splice_Site	NM_033540.2	NP_284941.2	Q8IWA4	MFN1_HUMAN	mitofusin 1						mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TATGGAAGACGTAAGTTGTTA	0.318000													30	202					0	0	0.000279167	0	0
MYO5B	4645	broad.mit.edu	37	18	47363917	47363917	+	Missense_Mutation	SNP	A	A	G	rs138128932	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:47363917A>G	ENST00000285039.7	-	37	5407	c.5108T>C	c.(5107-5109)gTc>gCc	p.V1703A	MYO5B_ENST00000592688.1_Missense_Mutation_p.V273A|SCARNA17_ENST00000589499.1_RNA|RP11-886H22.1_ENST00000590532.2_Missense_Mutation_p.V26A|MYO5B_ENST00000324581.6_Missense_Mutation_p.V818A	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1703	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.V1703A(5)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAAGAGCAGACGTCCTTCCG	0.527000													6	180					0	0	0.000308642	0	0
CEP70	80321	broad.mit.edu	37	3	138224205	138224205	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:138224205G>T	ENST00000264982.3	-	13	1419	c.1153C>A	c.(1153-1155)Caa>Aaa	p.Q385K	CEP70_ENST00000484888.1_Missense_Mutation_p.Q385K|CEP70_ENST00000542237.1_Missense_Mutation_p.Q365K|CEP70_ENST00000481834.1_Missense_Mutation_p.Q385K|CEP70_ENST00000489254.1_Missense_Mutation_p.Q233K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	385					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CCACAATCTTGAACAAGATCT	0.358000													13	870					2.68362e-12	1.04862e-10	0.00010058	1	0
BLM	641	broad.mit.edu	37	15	91306341	91306341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:91306341C>A	ENST00000355112.3	+	8	2146	c.2028C>A	c.(2026-2028)atC>atA	p.I676I	BLM_ENST00000560509.1_Silent_p.I676I|BLM_ENST00000560136.1_3'UTR	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	676	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAGAGGCGATCAATGCTGCAC	0.363000			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				13	704					0.000132079	0.00227481	0.000132079	1	0
OCM2	4951	broad.mit.edu	37	7	97617777	97617777	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:97617777G>T	ENST00000257627.4	-	2	236	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	OCM2_ENST00000473987.2_5'UTR	NM_006188.3	NP_006179.2	P0CE71	OCM2_HUMAN	oncomodulin 2	49	EF-hand 1.						calcium ion binding			lung(4)	4						TCTATGAACCGGAAAACATCC	0.507000													9	494					3.86212e-05	0.000778902	0.000673444	1	0
EMR1	2015	broad.mit.edu	37	19	6913826	6913826	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:6913826C>A	ENST00000312053.4	+	11	1322	c.1285C>A	c.(1285-1287)Cgg>Agg	p.R429R	EMR1_ENST00000250572.8_Silent_p.R429R|EMR1_ENST00000450315.3_Silent_p.R252R|EMR1_ENST00000381404.4_Silent_p.R377R|EMR1_ENST00000381407.5_Silent_p.R288R	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	429	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498000													10	578					0.000673444	0.00785517	0.000673444	1	0
ZNF502	91392	broad.mit.edu	37	3	44763222	44763222	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:44763222C>A	ENST00000296091.4	+	4	1169	c.913C>A	c.(913-915)Cga>Aga	p.R305R	ZNF502_ENST00000436624.2_Silent_p.R305R|ZNF502_ENST00000449836.1_Silent_p.R305R	NM_001134440.1|NM_033210.4	NP_001127912.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CTCTTCTTTTCGAAAACACTC	0.408000													14	862					0.000308642	0.00435582	0.000308642	1	0
SEC11A	23478	broad.mit.edu	37	15	85224008	85224008	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:85224008G>T	ENST00000268220.7	-	4	1007	c.367C>A	c.(367-369)Cga>Aga	p.R123R	SEC11A_ENST00000558134.1_Silent_p.R123R|SEC11A_ENST00000455959.3_Silent_p.R97R|SEC11A_ENST00000560266.1_Silent_p.R123R	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	123					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TAGAGGCCTCGGTCATCAACC	0.408000													10	746					1.49906e-05	0.000353665	0.000219431	1	0
BPIFB4	149954	broad.mit.edu	37	20	31671235	31671235	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:31671235G>T	ENST00000375483.3	+	3	232	c.232G>T	c.(232-234)Ggc>Tgc	p.G78C		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	78						cytoplasm|extracellular region	lipid binding										ATATACCAACGGCAAAAAACT	0.478000													14	647					9.31168e-06	0.000235695	0.000151284	1	0
SEC62	7095	broad.mit.edu	37	3	169700520	169700520	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:169700520C>A	ENST00000337002.4	+	4	335	c.277C>A	c.(277-279)Cga>Aga	p.R93R	SEC62_ENST00000480708.1_Silent_p.R93R|SEC62-AS1_ENST00000479626.1_RNA	NM_003262.3	NP_003253.1	Q99442	SEC62_HUMAN	SEC62 homolog (S. cerevisiae)	93					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						GTTTTTTCACCGAGCCCTAAA	0.323000													9	835					1.58986e-06	4.62318e-05	0.000673444	1	0
AHSA2	130872	broad.mit.edu	37	2	61412663	61412663	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:61412663G>T	ENST00000394457.2	+	4	1845	c.102G>T	c.(100-102)ctG>ctT	p.L34L	AHSA2_ENST00000489653.1_3'UTR|AHSA2_ENST00000357022.2_Silent_p.L34L|AHSA2_ENST00000410073.1_Silent_p.L34L	NM_152392.3	NP_689605.1	Q719I0	AHSA2_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 2 (yeast)	196					response to stress	cytoplasm	ATPase activator activity|chaperone binding			breast(1)|lung(3)|prostate(1)	5			Epithelial(17;0.0994)			CAGTGGCACTGGGTGTAAGGA	0.458000													10	547					2.17888e-05	0.00047966	0.000442599	1	0
USP9X	8239	broad.mit.edu	37	X	41045841	41045841	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:41045841C>A	ENST00000324545.7	+	24	4263	c.3630C>A	c.(3628-3630)tcC>tcA	p.S1210S	USP9X_ENST00000378308.2_Silent_p.S1210S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1210					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	p.S1203S(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATCCATCATCCGAGTGCATGC	0.403000													8	705					3.86212e-05	0.000778902	0.000673444	1	0
GALNTL5	168391	broad.mit.edu	37	7	151716785	151716785	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:151716785C>A	ENST00000392800.2	+	9	1485	c.1231C>A	c.(1231-1233)Cgc>Agc	p.R411S	GALNTL5_ENST00000431418.2_Missense_Mutation_p.R411S	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	411						Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.R411C(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CGGAAATATTCGCGAGCGTGT	0.423000													11	467					0.000219431	0.00342116	0.000219431	1	0
GTF2H2C	728340	broad.mit.edu	37	5	68875685	68875685	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68875685C>A	ENST00000510979.1	+	11	946	c.751C>A	c.(751-753)Cgt>Agt	p.R251S	GTF2H2C_ENST00000508344.2_Missense_Mutation_p.R194S|GTF2H2C_ENST00000380729.3_Missense_Mutation_p.R251S|GTF2H2C_ENST00000514162.1_Intron	NM_001098728.1	NP_001092198.1	Q6P1K8	T2H2L_HUMAN	general transcription factor IIH, polypeptide 2C	251					DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(1)|lung(1)	2						CTCACTTATTCGTATGGGTAA	0.308000													15	1492					5.18039e-06	0.000141431	0.000157383	1	0
CGNL1	84952	broad.mit.edu	37	15	57731336	57731336	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:57731336C>A	ENST00000281282.5	+	2	1217	c.1139C>A	c.(1138-1140)aCa>aAa	p.T380K		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	380	Head.		T -> P (in dbSNP:rs1280395).			myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AGAATTAATACAGATGACAGG	0.443000													8	347					0.000274275	0.0039602	0.000274275	1	0
HEXA	3073	broad.mit.edu	37	15	72668191	72668191	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72668191C>A	ENST00000268097.5	-	1	626	c.123G>T	c.(121-123)ccG>ccT	p.P41P	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000566304.1_Silent_p.P41P|HEXA_ENST00000567159.1_Silent_p.P41P	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	41					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GAAAGTTGTTCGGGTAAAGGA	0.622000													12	701					0.000151284	0.00252221	0.000151284	1	0
PHKG2	5261	broad.mit.edu	37	16	30762913	30762913	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:30762913G>T	ENST00000563588.1	+	4	554	c.315G>T	c.(313-315)ctG>ctT	p.L105L	PHKG2_ENST00000424889.3_Silent_p.L105L|PHKG2_ENST00000328273.7_Silent_p.L105L	NM_000294.2	NP_000285.1	P15735	PHKG2_HUMAN	phosphorylase kinase, gamma 2 (testis)	105	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity	p.L105L(1)		ovary(1)|skin(1)	2			Colorectal(24;0.198)			TCATGTTCCTGGTGTTTGACC	0.537000													13	1358					3.07112e-06	8.57171e-05	6.40141e-05	1	0
FRMPD4	9758	broad.mit.edu	37	X	12736390	12736390	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:12736390C>A	ENST00000380682.1	+	16	3951	c.3445C>A	c.(3445-3447)Cgc>Agc	p.R1149S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1149					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAAGGGGACCGCTTCTTAAC	0.547000													12	1018					0.000673444	0.00785517	0.000673444	1	0
MAP1LC3B2	643246	broad.mit.edu	37	12	117014104	117014104	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:117014104C>A	ENST00000306985.4	+	2	511	c.357C>A	c.(355-357)ttC>ttA	p.F119L	MAP1LC3B2_ENST00000556529.1_Missense_Mutation_p.F119L	NM_001085481.1	NP_001078950.1	A6NCE7	MP3B2_HUMAN	microtubule-associated protein 1 light chain 3 beta 2	119					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule				breast(1)|large_intestine(2)|lung(3)	6						AGGAGACGTTCGGGATGAAAT	0.423000													8	595					0.000673444	0.00785517	0.000673444	1	0
PALLD	23022	broad.mit.edu	37	4	169812152	169812152	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:169812152C>A	ENST00000335742.7	+	12	2927	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K	PALLD_ENST00000512127.1_Missense_Mutation_p.Q300K|PALLD_ENST00000505667.1_Missense_Mutation_p.Q682K|PALLD_ENST00000261509.6_Missense_Mutation_p.Q682K|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000507735.1_Missense_Mutation_p.Q195K			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	906	Ig-like C2-type 2.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGCTGTTATTCAAGACCTGGA	0.468000									Pancreatic Cancer, Familial Clustering of				7	304					2.17888e-05	0.00047966	0.000442599	1	0
SLC19A3	80704	broad.mit.edu	37	2	228564041	228564041	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:228564041C>A	ENST00000258403.3	-	3	461	c.390G>T	c.(388-390)gtG>gtT	p.V130V	SLC19A3_ENST00000541617.1_Silent_p.V126V|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	130					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	CGGGGCTGACCACGCTGTATA	0.587000													8	430					5.18039e-06	0.000141431	0.000157383	1	0
CCDC85A	114800	broad.mit.edu	37	2	56419683	56419683	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:56419683G>A	ENST00000407595.2	+	2	850	c.348G>A	c.(346-348)cgG>cgA	p.R116R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	116										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATGATGACCGGCAGAAAGGCA	0.532000													5	287					0	0	0.000602214	0	0
FAT2	2196	broad.mit.edu	37	5	150907603	150907603	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:150907603G>T	ENST00000261800.5	-	15	10130	c.10118C>A	c.(10117-10119)cCc>cAc	p.P3373H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3373	Cadherin 30.				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)			CCCCTTTTTGGGGTGAATGGT	0.562000													8	341					1.58986e-06	4.62318e-05	0.000673444	1	0
RSC1A1	6248	broad.mit.edu	37	1	15988098	15988098	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:15988098C>A	ENST00000345034.1	+	1	1735	c.1735C>A	c.(1735-1737)Cgc>Agc	p.R579S	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	579	UBA.				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGATATTGACCGCATTCTCCG	0.468000													11	700					0.00010058	0.00173709	0.00010058	1	0
SPOCK3	50859	broad.mit.edu	37	4	167983676	167983676	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:167983676G>T	ENST00000357154.3	-	4	348	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	SPOCK3_ENST00000512681.1_Intron|SPOCK3_ENST00000504953.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000541637.1_Intron|SPOCK3_ENST00000541354.1_5'UTR|SPOCK3_ENST00000506886.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000421836.2_Missense_Mutation_p.R20S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000534949.1_Intron|SPOCK3_ENST00000510741.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000512648.1_Missense_Mutation_p.R68S|SPOCK3_ENST00000511531.1_Missense_Mutation_p.R71S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.R68S|SPOCK3_ENST00000535728.1_5'UTR|SPOCK3_ENST00000507137.1_5'UTR	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	71					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTCCAAGTGCGGAAATAATCA	0.299000													9	671					2.17888e-05	0.00047966	0.000442599	1	0
NBPF1	55672	broad.mit.edu	37	1	16902777	16902777	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:16902777G>T	ENST00000430580.2	-	19	2991	c.2104C>A	c.(2104-2106)Caa>Aaa	p.Q702K	NBPF1_ENST00000287968.8_Missense_Mutation_p.Q67K|NBPF1_ENST00000432949.1_Missense_Mutation_p.Q160K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	702						cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CTGAGCTTTTGGACAAGGTGC	0.562000													19	2025					1.58986e-06	4.62318e-05	0.000673444	1	0
TUBB8P7	0	broad.mit.edu	37	16	90161609	90161609	+	RNA	SNP	A	A	G	rs139928438	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:90161609A>G	ENST00000567960.1	+	0	345				TUBB8P7_ENST00000564451.1_RNA																							TGATGGAGTCAGTGATGGACG	0.617000													6	146					0	0	0.000673444	0	0
CDKL5	6792	broad.mit.edu	37	X	18631387	18631387	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18631387C>A	ENST00000379989.3	+	16	2553	c.2268C>A	c.(2266-2268)ttC>ttA	p.F756L	CDKL5_ENST00000379996.3_Missense_Mutation_p.F756L|CDKL5_ENST00000463994.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	756				Missing (in Ref. 4; CAA61445).	neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AACCAGCATTCGATCCATGGT	0.353000													11	622					0.00010058	0.00173709	0.00010058	1	0
ACO1	48	broad.mit.edu	37	9	32408531	32408531	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:32408531G>T	ENST00000379923.1	+	5	492	c.286G>T	c.(286-288)Gac>Tac	p.D96Y	ACO1_ENST00000541043.1_5'UTR|ACO1_ENST00000309951.5_Missense_Mutation_p.D96Y	NM_001278352.1	NP_001265281.1	P21399	ACOC_HUMAN	aconitase 1, soluble	96					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		CGCTGTGGTTGACTTTGCTGC	0.418000													10	512					0.00010058	0.00173709	0.00010058	1	0
TRAF6	7189	broad.mit.edu	37	11	36518716	36518716	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:36518716G>T	ENST00000526995.1	-	4	794	c.548C>A	c.(547-549)cCa>cAa	p.P183Q	TRAF6_ENST00000348124.5_Missense_Mutation_p.P183Q	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	183	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				CTGTCTCCTTGGACAATCCTT	0.383000													8	395					0.000442599	0.00556767	0.000442599	1	0
MARCH7	64844	broad.mit.edu	37	2	160605292	160605292	+	Silent	SNP	C	C	A	rs149881046	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:160605292C>A	ENST00000259050.3	+	5	1613	c.1491C>A	c.(1489-1491)acC>acA	p.T497T	MARCH7_ENST00000409591.1_Silent_p.T459T|MARCH7_ENST00000539065.1_Silent_p.T441T|MARCH7_ENST00000409175.1_Silent_p.T497T	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	497							ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GTAATTTGACCGACAATGTCA	0.423000													12	1096					0.000673444	0.00785517	0.000673444	1	0
SLC4A7	9497	broad.mit.edu	37	3	27439802	27439802	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:27439802C>A	ENST00000295736.5	-	17	2513	c.2443G>T	c.(2443-2445)Ggt>Tgt	p.G815C	SLC4A7_ENST00000428386.1_Missense_Mutation_p.G691C|SLC4A7_ENST00000437179.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000435667.2_Missense_Mutation_p.G700C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.G807C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.G696C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.G824C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.G811C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.G365C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	815						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						CCATGATGACCACAAGCTGAC	0.363000													8	494					2.27111e-07	7.55265e-06	0.00010058	1	0
ZNF613	79898	broad.mit.edu	37	19	52447796	52447796	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52447796C>A	ENST00000293471.6	+	6	1339	c.660C>A	c.(658-660)atC>atA	p.I220I	ZNF613_ENST00000391794.4_Silent_p.I184I	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		CTCGCCTCATCTATCATCAGA	0.458000													10	903					3.09899e-07	9.98704e-06	0.000274275	1	0
PHF3	23469	broad.mit.edu	37	6	64390021	64390021	+	Nonsense_Mutation	SNP	C	C	A	rs149513419		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:64390021C>A	ENST00000262043.3	+	3	705	c.365C>A	c.(364-366)tCa>tAa	p.S122*	PHF3_ENST00000509330.1_Nonsense_Mutation_p.S122*|PHF3_ENST00000393387.1_Nonsense_Mutation_p.S122*			Q92576	PHF3_HUMAN	PHD finger protein 3	122					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGAAAATTCAGTGAGATCT	0.383000													14	491					5.01169e-05	0.0010075	0.000566183	1	0
ACSM2B	348158	broad.mit.edu	37	16	20548635	20548635	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:20548635C>A	ENST00000329697.6	-	14	1847	c.1679G>T	c.(1678-1680)cGa>cTa	p.R560L	ACSM2B_ENST00000567001.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R560L|ACSM2B_ENST00000565322.1_Missense_Mutation_p.R481L	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	560					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGTTTGGTTCGTTGAATTTT	0.473000													12	1048					0.000219431	0.00342116	0.000219431	1	0
DOCK11	139818	broad.mit.edu	37	X	117796744	117796744	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:117796744C>A	ENST00000276204.6	+	45	5139	c.5065C>A	c.(5065-5067)Cat>Aat	p.H1689N	DOCK11_ENST00000276202.7_Missense_Mutation_p.H1689N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1689	DHR-2.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GATGGATGTCCATTATAGTGA	0.338000													8	296					3.09899e-07	9.98704e-06	0.000274275	1	0
COQ10B	80219	broad.mit.edu	37	2	198338490	198338490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:198338490G>T	ENST00000263960.2	+	5	697	c.559G>T	c.(559-561)Gaa>Taa	p.E187*	COQ10B_ENST00000409010.1_Nonsense_Mutation_p.E159*|COQ10B_ENST00000545340.1_Nonsense_Mutation_p.E144*|COQ10B_ENST00000409398.1_Nonsense_Mutation_p.E137*	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	187						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GATTTCTTTTGAATTTCGATC	0.333000													9	531					0.000442599	0.00556767	0.000442599	1	0
POGLUT1	56983	broad.mit.edu	37	3	119190184	119190184	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119190184C>A	ENST00000295588.4	+	3	289	c.205C>A	c.(205-207)Cga>Aga	p.R69R		NM_152305.2	NP_689518.1	Q8NBL1	PGLT1_HUMAN	protein O-glucosyltransferase 1	69						endoplasmic reticulum lumen	UDP-glucosyltransferase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(1)	16						AACTCCTTTCCGAGGAGGCAT	0.498000													9	864					0.000274275	0.0039602	0.000274275	1	0
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000544146.1_Silent_p.H311H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000301096.3_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418000													7	709					0	0	0.000157383	0	0
KL	9365	broad.mit.edu	37	13	33628294	33628294	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:33628294G>T	ENST00000380099.3	+	2	1218	c.1210G>T	c.(1210-1212)Gaa>Taa	p.E404*	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Nonsense_Mutation_p.E97*	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	404	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GATTGACCTTGAATTTAACCA	0.418000													12	868					1.49906e-05	0.000353665	0.000219431	1	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													10	420					0	0	0.000442599	0	0
OSGIN2	734	broad.mit.edu	37	8	90926876	90926876	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:90926876G>T	ENST00000451899.2	+	4	690	c.430G>T	c.(430-432)Ggg>Tgg	p.G144W	OSGIN2_ENST00000520659.1_Missense_Mutation_p.G144W|OSGIN2_ENST00000297438.2_Missense_Mutation_p.G100W	NM_001126111.1	NP_001119583.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	100					germ cell development|meiosis			p.G100W(1)|p.G144W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGCTGACTTTGGGTATGATTA	0.448000													10	587					2.17888e-05	0.00047966	0.000442599	1	0
RP11-248G5.8	0	broad.mit.edu	37	13	52864053	52864053	+	RNA	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:52864053T>A	ENST00000451298.1	-	0	116				RP11-64P12.8_ENST00000606031.1_RNA																							AACTTTGCTATCAGTGAAAAT	0.308000													5	125					0	0	3.59834e-05	0	0
ZNF761	388561	broad.mit.edu	37	19	53945909	53945909	+	RNA	SNP	T	T	C	rs28727441	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:53945909T>C	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACCCTGACTCTGCCTGAGGCC	0.562000													13	166					0	0	0.000566183	0	0
PARP4	143	broad.mit.edu	37	13	25029162	25029162	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:25029162G>T	ENST00000381989.3	-	22	2856	c.2751C>A	c.(2749-2751)ttC>ttA	p.F917L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	917	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CACCTGTGCCGAACTGGATAA	0.532000													9	725					1.58986e-06	4.62318e-05	0.000673444	1	0
ANKRD12	23253	broad.mit.edu	37	18	9275594	9275594	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:9275594C>A	ENST00000383440.2	+	10	6024	c.5767C>A	c.(5767-5769)Caa>Aaa	p.Q1923K	ANKRD12_ENST00000262126.3_Missense_Mutation_p.Q1946K|ANKRD12_ENST00000400020.3_Missense_Mutation_p.Q1923K	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1946						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATTGGCAAATCAAACACTGCC	0.343000													14	994					2.31682e-05	0.000501203	0.000308642	1	0
MRPS36	92259	broad.mit.edu	37	5	68524181	68524181	+	Missense_Mutation	SNP	A	A	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:68524181A>T	ENST00000256441.4	+	3	331	c.261A>T	c.(259-261)aaA>aaT	p.K87N	MRPS36_ENST00000507022.1_3'UTR|MRPS36_ENST00000602380.1_Missense_Mutation_p.K22N|MRPS36_ENST00000512880.1_Missense_Mutation_p.K22N	NM_033281.5	NP_150597.1	P82909	RT36_HUMAN	mitochondrial ribosomal protein S36	87					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(1)|urinary_tract(1)	7		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.04e-56)|Epithelial(20;8.79e-53)|all cancers(19;2.01e-48)|Lung(70;0.0176)		ACAGAAGGAAACTTGTGTCTC	0.373000													63	514					0	0	0.000781405	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43924402	43924402	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:43924402C>A	ENST00000282406.4	+	7	705	c.595C>A	c.(595-597)Cga>Aga	p.R199R		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	199						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)				CTTTTTATCTCGAGCAAGGAG	0.428000													12	532					0.000219431	0.00342116	0.000219431	1	0
AFF1	4299	broad.mit.edu	37	4	87968161	87968161	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:87968161C>T	ENST00000307808.6	+	3	873	c.453C>T	c.(451-453)tgC>tgT	p.C151C	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.C158C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	151						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCAAAAGCTGCGGCCCACCGG	0.567000													5	281					0	0	0.000602214	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A	rs139541363	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627000													6	201					0	0	0.000295444	0	0
CTNNAL1	8727	broad.mit.edu	37	9	111761453	111761453	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111761453G>T	ENST00000374595.4	-	2	304	c.225C>A	c.(223-225)gtC>gtA	p.V75V	CTNNAL1_ENST00000325580.6_Silent_p.V75V|CTNNAL1_ENST00000374593.4_Silent_p.V75V|CTNNAL1_ENST00000325551.4_Silent_p.V75V			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	75					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CTGCCAAGTTGACAGCTTGTC	0.328000													14	1194					7.48243e-07	2.35076e-05	0.000442599	1	0
MLNR	2862	broad.mit.edu	37	13	49796387	49796387	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:49796387C>A	ENST00000218721.1	+	2	1113	c.1113C>A	c.(1111-1113)ctC>ctA	p.L371L	MLNR_ENST00000398307.1_3'UTR	NM_001507.1	NP_001498.1	O43193	MTLR_HUMAN	motilin receptor	371					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		AACTGCTGCTCGCAAGGAAGT	0.547000													9	676					0.000274275	0.0039602	0.000274275	1	0
CD209	30835	broad.mit.edu	37	19	7810766	7810766	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7810766C>T	ENST00000315599.7	-	4	408	c.386G>A	c.(385-387)cGg>cAg	p.R129Q	CD209_ENST00000394173.4_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R105Q|CD209_ENST00000315591.8_Missense_Mutation_p.R105Q|CD209_ENST00000593821.1_Missense_Mutation_p.R85Q|CD209_ENST00000354397.6_Missense_Mutation_p.R129Q|CD209_ENST00000593660.1_Missense_Mutation_p.R105Q|CD209_ENST00000602261.1_Missense_Mutation_p.R129Q|CD209_ENST00000601256.1_Missense_Mutation_p.R105Q|CD209_ENST00000204801.8_Missense_Mutation_p.R85Q|CD209_ENST00000301357.8_Missense_Mutation_p.R85Q|CD209_ENST00000394161.5_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	129	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|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 membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCTTCAGCCGGGTCAGCTC	0.567000													10	736					0	0	6.40141e-05	0	0
AKNAD1	254268	broad.mit.edu	37	1	109369904	109369904	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:109369904T>C	ENST00000370001.3	-	11	2127	c.1859A>G	c.(1858-1860)aAg>aGg	p.K620R	AKNAD1_ENST00000369994.1_Missense_Mutation_p.K590R|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K620R|AKNAD1_ENST00000357393.4_Missense_Mutation_p.K327R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	620										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TCCGTGGCCCTTTTTCTCCAC	0.413000													6	857					0	0	3.59834e-05	0	0
LEPR	3953	broad.mit.edu	37	1	66085628	66085628	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:66085628G>T	ENST00000349533.6	+	17	2598	c.2413G>T	c.(2413-2415)Gag>Tag	p.E805*	LEPR_ENST00000371059.3_Nonsense_Mutation_p.E805*|LEPR_ENST00000371058.1_Nonsense_Mutation_p.E805*|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000344610.8_Nonsense_Mutation_p.E805*|LEPR_ENST00000371060.3_Nonsense_Mutation_p.E805*	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	805	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATCCCCATTGAGAAGTACCA	0.279000													9	512					0.000151284	0.00252221	0.000151284	1	0
PIP	5304	broad.mit.edu	37	7	142836647	142836647	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142836647G>T	ENST00000291009.3	+	4	393	c.353G>T	c.(352-354)cGg>cTg	p.R118L		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	118						extracellular region	actin binding	p.R118L(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453000													11	689					0.000151284	0.00252221	0.000151284	1	0
GOLGB1	2804	broad.mit.edu	37	3	121410027	121410027	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:121410027G>T	ENST00000393667.3	-	14	8294	c.8184C>A	c.(8182-8184)acC>acA	p.T2728T	GOLGB1_ENST00000340645.5_Silent_p.T2723T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2723					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)		TATTTTCTTTGGTGACCATGA	0.403000													12	960					1.5842e-08	5.6922e-07	0.000151284	1	0
USP37	57695	broad.mit.edu	37	2	219411667	219411667	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:219411667G>C	ENST00000258399.3	-	7	989	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	USP37_ENST00000418019.1_Missense_Mutation_p.L193V|USP37_ENST00000338465.5_Missense_Mutation_p.L193V|USP37_ENST00000454775.1_Missense_Mutation_p.L193V|USP37_ENST00000415516.1_Missense_Mutation_p.L121V	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	193					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CCTGATCTAAGAGGTGTTGAA	0.398000													83	463					0	0	0.000781405	0	0
WDR7	23335	broad.mit.edu	37	18	54591315	54591315	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:54591315C>T	ENST00000254442.3	+	22	3900	c.3689C>T	c.(3688-3690)gCc>gTc	p.A1230V	WDR7_ENST00000357574.3_Missense_Mutation_p.A1197V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1230										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GAACTTTGTGCCGATGCCGAG	0.438000													6	550					0	0	0.000274275	0	0
GABRA2	2555	broad.mit.edu	37	4	46305547	46305547	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:46305547G>T	ENST00000510861.1	-	8	959	c.786C>A	c.(784-786)atC>atA	p.I262I	GABRA2_ENST00000381620.4_Silent_p.I262I|GABRA2_ENST00000514090.1_Silent_p.I262I|GABRA2_ENST00000515082.1_Silent_p.I262I|GABRA2_ENST00000507069.1_Silent_p.I262I|GABRA2_ENST00000540012.1_Silent_p.I207I|GABRA2_ENST00000356504.1_Silent_p.I262I			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	262					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGACAGTCATGATGCAAGGCA	0.388000													51	354					4.37618e-36	1.78823e-34	0.000781405	1	0
ATP11C	286410	broad.mit.edu	37	X	138865392	138865392	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:138865392C>A	ENST00000370557.1	-	17	2728	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	ATP11C_ENST00000359686.2_Silent_p.S570S|ATP11C_ENST00000370543.1_Silent_p.S570S|ATP11C_ENST00000361648.2_Silent_p.S570S|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Silent_p.S570S			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	570					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GAAAAACTGCCGAGTCTGCTC	0.383000													13	812					1.49906e-05	0.000353665	0.000219431	1	0
DCAF5	8816	broad.mit.edu	37	14	69522283	69522283	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:69522283C>A	ENST00000341516.5	-	9	1267	c.1120G>T	c.(1120-1122)Ggt>Tgt	p.G374C	DCAF5_ENST00000557386.1_Missense_Mutation_p.G373C|DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_Missense_Mutation_p.G292C|DCAF5_ENST00000556847.1_Missense_Mutation_p.G292C	NM_003861.2	NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	374						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCAATCCGACCGTCGAGGTCT	0.493000													10	770					0.000673444	0.00785517	0.000673444	1	0
KLHL22	84861	broad.mit.edu	37	22	20819390	20819390	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20819390C>T	ENST00000328879.4	-	4	1023	c.867G>A	c.(865-867)ccG>ccA	p.P289P	KLHL22_ENST00000440659.2_Silent_p.P146P	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	289					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	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)			GCTCCGTTTGCGGGCTCTGCA	0.632000													4	159					0	0	0.00024832	0	0
BNC1	646	broad.mit.edu	37	15	83926420	83926420	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:83926420G>A	ENST00000345382.2	-	5	2844	c.2759C>T	c.(2758-2760)gCt>gTt	p.A920V	BNC1_ENST00000569704.1_Missense_Mutation_p.A913V|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	920					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						AGGCAGGCTAGCAAGGCTCTG	0.537000													75	812					0	0	0.000781405	0	0
TRIM60	166655	broad.mit.edu	37	4	165962020	165962020	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:165962020G>T	ENST00000512596.1	+	3	1012	c.796G>T	c.(796-798)Gaa>Taa	p.E266*	TRIM60_ENST00000508504.1_Nonsense_Mutation_p.E266*|TRIM60_ENST00000341062.5_Nonsense_Mutation_p.E266*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	266						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAATGCCCTGAACTCTTTTC	0.393000													9	426					0.000442599	0.00556767	0.000442599	1	0
RPS25	6230	broad.mit.edu	37	11	118888751	118888751	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118888751C>A	ENST00000527673.1	-	2	421	c.16G>T	c.(16-18)Gac>Tac	p.D6Y	RPS25_ENST00000528547.1_5'UTR	NM_001028.2	NP_001019.1	P62851	RS25_HUMAN	ribosomal protein S25	6					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding			endometrium(1)	1	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TTCTTCTTGTCGTCCTTAGGC	0.542000													8	457					1.76689e-08	6.24103e-07	0.000442599	1	0
STX2	2054	broad.mit.edu	37	12	131297517	131297517	+	Silent	SNP	G	G	T	rs146831527		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297517G>T	ENST00000261653.6	-	4	431	c.265C>A	c.(265-267)Cga>Aga	p.R89R	STX2_ENST00000392373.2_Silent_p.R89R	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	89				R -> A (in Ref. 1; BAA03436).	acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		AACTTGGCTCGAATTTTATTC	0.249000													21	757					9.22233e-05	0.00168099	0.000720815	1	0
PTPN22	26191	broad.mit.edu	37	1	114380531	114380531	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114380531C>A	ENST00000359785.5	-	13	1626	c.1491G>T	c.(1489-1491)ctG>ctT	p.L497L	PTPN22_ENST00000420377.2_Silent_p.L497L|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Silent_p.L253L|PTPN22_ENST00000528414.1_Silent_p.L442L|PTPN22_ENST00000525799.1_Silent_p.L370L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051.3	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	497					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGAATAATTCAGTTCTGCTG	0.363000													9	481					0.000673444	0.00785517	0.000673444	1	0
ZNF681	148213	broad.mit.edu	37	19	23927139	23927139	+	Missense_Mutation	SNP	T	T	G	rs1852431		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:23927139T>G	ENST00000402377.3	-	4	1354	c.1213A>C	c.(1213-1215)Aag>Cag	p.K405Q	ZNF681_ENST00000395385.3_Missense_Mutation_p.K336Q	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TGTGAGGACTTGTTAAAAGCT	0.403000													8	392					0	0	0.000422831	0	0
ZNF681	148213	broad.mit.edu	37	19	23927146	23927146	+	Silent	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:23927146A>G	ENST00000402377.3	-	4	1347	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	ZNF681_ENST00000395385.3_Silent_p.A333A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	402					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTTGTTAAAAGCTTTGCCAC	0.398000													7	416					0	0	0.000151284	0	0
MDH1B	130752	broad.mit.edu	37	2	207622074	207622074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:207622074C>A	ENST00000374412.3	-	3	432	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	MDH1B_ENST00000449792.1_5'UTR|MDH1B_ENST00000454776.2_Nonsense_Mutation_p.E53*|MDH1B_ENST00000392214.2_Nonsense_Mutation_p.E53*	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	53					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		TTATTCTTTTCACACACATCT	0.373000													10	510					0.00010058	0.00173709	0.00010058	1	0
RTN2	6253	broad.mit.edu	37	19	45997638	45997638	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:45997638G>A	ENST00000245923.4	-	4	835	c.600C>T	c.(598-600)ccC>ccT	p.P200P	RTN2_ENST00000344680.4_Silent_p.P200P|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000590526.1_5'UTR	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	200						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TCAAGACCTCGGGCGATGAGG	0.617000													31	193					0	0	0.000339439	0	0
EXOC1	55763	broad.mit.edu	37	4	56744167	56744167	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:56744167C>A	ENST00000381295.2	+	9	1507	c.1159C>A	c.(1159-1161)Cga>Aga	p.R387R	EXOC1_ENST00000346134.7_Silent_p.R387R|EXOC1_ENST00000349598.6_Silent_p.R387R	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	387					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGATTTGCTCCGATATGCCAA	0.393000													8	427					0.000442599	0.00556767	0.000442599	1	0
MSN	4478	broad.mit.edu	37	X	64949377	64949377	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:64949377C>A	ENST00000360270.5	+	4	442	c.270C>A	c.(268-270)tcC>tcA	p.S90S		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	90	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton	p.S90S(2)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AGGATGTGTCCGAGGAATTGA	0.517000			T	ALK	ALCL								9	508					0.000442599	0.00556767	0.000442599	1	0
ZNF407	55628	broad.mit.edu	37	18	72347035	72347035	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:72347035G>T	ENST00000299687.5	+	1	4060	c.4060G>T	c.(4060-4062)Ggt>Tgt	p.G1354C	ZNF407_ENST00000577538.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000582337.1_Missense_Mutation_p.G1354C|ZNF407_ENST00000309902.6_Missense_Mutation_p.G1354C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)		GTACAGTTTTGGTCGATTTGA	0.423000													11	548					9.31168e-06	0.000235695	0.000151284	1	0
OR5T1	390155	broad.mit.edu	37	11	56043180	56043180	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56043180C>A	ENST00000313033.2	+	1	152	c.66C>A	c.(64-66)acC>acA	p.T22T		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CTGAAGTCACCATGTTTATAT	0.299000													11	705					3.86212e-05	0.000778902	0.000673444	1	0
FAM120A	23196	broad.mit.edu	37	9	96261114	96261114	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:96261114G>T	ENST00000277165.6	+	5	1170	c.976G>T	c.(976-978)Gga>Tga	p.G326*	FAM120A_ENST00000375389.3_Nonsense_Mutation_p.G326*|FAM120A_ENST00000340893.4_Nonsense_Mutation_p.G326*|FAM120A_ENST00000333936.5_Nonsense_Mutation_p.G326*	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	326						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGAGCAATTGGATATTATTC	0.353000													11	1145					0.000157383	0.00254253	0.000157383	1	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													6	23					2.0095e-06	5.78958e-05	8.12818e-05	1	0
ZFHX4	79776	broad.mit.edu	37	8	77766289	77766289	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:77766289G>T	ENST00000521891.2	+	10	7580	c.7132G>T	c.(7132-7134)Gcc>Tcc	p.A2378S	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A2352S|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A2333S|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A2333S	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2333	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAACGCTGCTGCCCCTGCAGC	0.512000										HNSCC(33;0.089)			47	314					1.23103e-26	4.96541e-25	0.000680045	1	0
RSL1D1	26156	broad.mit.edu	37	16	11933615	11933615	+	Silent	SNP	G	G	T	rs144452977	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:11933615G>T	ENST00000571133.1	-	8	1155	c.1083C>A	c.(1081-1083)tcC>tcA	p.S361S	RSL1D1_ENST00000542106.1_Silent_p.S141S	NM_015659.2	NP_056474.2	O76021	RL1D1_HUMAN	ribosomal L1 domain containing 1	361					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTCGTCTTCGGATTCATTTG	0.398000													10	804					9.31168e-06	0.000235695	0.000151284	1	0
FBN2	2201	broad.mit.edu	37	5	127730895	127730895	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:127730895G>A	ENST00000508053.1	-	15	2125	c.1151C>T	c.(1150-1152)aCg>aTg	p.T384M	FBN2_ENST00000262464.4_Missense_Mutation_p.T384M|FBN2_ENST00000508989.1_Missense_Mutation_p.T351M			P35556	FBN2_HUMAN	fibrillin 2	384	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTGCATTTTCGTCATTCTCCC	0.542000													23	163					0	0	0.000229342	0	0
ATRX	546	broad.mit.edu	37	X	76939312	76939312	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:76939312G>T	ENST00000373344.5	-	9	1650	c.1436C>A	c.(1435-1437)cCa>cAa	p.P479Q	ATRX_ENST00000395603.3_Missense_Mutation_p.P441Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	479					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCCTCTGTTGGAACATTCTG	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	1717					2.17888e-05	0.00047966	0.000442599	1	0
COL2A1	1280	broad.mit.edu	37	12	48390401	48390401	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:48390401G>A	ENST00000380518.3	-	8	703	c.539C>T	c.(538-540)gCt>gTt	p.A180V	COL2A1_ENST00000337299.6_Missense_Mutation_p.A111V	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	180					axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	p.A180V(1)|p.A111V(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CATCTGGGCAGCAAAGTTCTG	0.468000													7	1030					0	0	8.12818e-05	0	0
OR9A4	130075	broad.mit.edu	37	7	141618684	141618684	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:141618684G>T	ENST00000548136.1	+	1	68	c.9G>T	c.(7-9)atG>atT	p.M3I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					AAATGTTGATGAATTACTCTA	0.373000													9	590					0.000442599	0.00556767	0.000442599	1	0
POU2F3	25833	broad.mit.edu	37	11	120117199	120117199	+	Missense_Mutation	SNP	C	C	A	rs150644971		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:120117199C>A	ENST00000260264.4	+	2	110	c.76C>A	c.(76-78)Cgc>Agc	p.R26S	POU2F3_ENST00000543440.2_Missense_Mutation_p.R24S	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	24					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding	p.R24C(1)		large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		CACGGATGCTCGCAGCACTCT	0.488000													7	428					0.000274275	0.0039602	0.000274275	1	0
ZNF221	7638	broad.mit.edu	37	19	44469186	44469186	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:44469186C>A	ENST00000251269.5	+	4	494	c.166C>A	c.(166-168)Cga>Aga	p.R56R	ZNF221_ENST00000587682.1_Silent_p.R56R|ZNF221_ENST00000592350.1_Silent_p.R56R	NM_013359.2	NP_037491.2	Q9UK13	ZN221_HUMAN	zinc finger protein 221	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.522000													8	832					0.000673444	0.00785517	0.000673444	1	0
MFSD1	64747	broad.mit.edu	37	3	158523162	158523162	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:158523162G>T	ENST00000415822.2	+	3	516	c.375G>T	c.(373-375)gtG>gtT	p.V125V	MFSD1_ENST00000392813.4_Intron|MFSD1_ENST00000264266.8_Silent_p.V76V	NM_022736.2	NP_073573.2	Q9H3U5	MFSD1_HUMAN	major facilitator superfamily domain containing 1	76					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	26			Lung(72;0.00372)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ATATGCAAGTGAATACCACGA	0.328000													12	776					0.000219431	0.00342116	0.000219431	1	0
TET1	80312	broad.mit.edu	37	10	70450608	70450608	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:70450608C>A	ENST00000373644.4	+	12	5657	c.5448C>A	c.(5446-5448)acC>acA	p.T1816T		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1816					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AAAGTGAAACCGAACCCCATT	0.428000													8	455					0.000673444	0.00785517	0.000673444	1	0
DDX4	54514	broad.mit.edu	37	5	55109582	55109582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:55109582C>A	ENST00000505374.1	+	19	1789	c.1697C>A	c.(1696-1698)tCa>tAa	p.S566*	DDX4_ENST00000514278.2_Nonsense_Mutation_p.S546*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.S532*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.S417*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	566	Helicase C-terminal.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GAAAAAATATCAACTACAAGT	0.284000													9	524					1.12685e-05	0.000275198	0.000274275	1	0
UBB	7314	broad.mit.edu	37	17	16285491	16285491	+	Silent	SNP	C	C	T	rs16962973		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:16285491C>T	ENST00000302182.3	+	2	662	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000395839.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000535788.1_Intron|UBB_ENST00000578649.1_Intron|UBB_ENST00000395837.1_Silent_p.T90T	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552000													8	349					0	0	0.000673444	0	0
OR8H1	219469	broad.mit.edu	37	11	56058331	56058331	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:56058331C>A	ENST00000313022.2	-	1	235	c.208G>T	c.(208-210)Gac>Tac	p.D70Y		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TAACTGAGGTCAATAAATGAC	0.413000													12	1069					0.000673444	0.00785517	0.000673444	1	0
STAT4	6775	broad.mit.edu	37	2	191898700	191898700	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:191898700C>A	ENST00000392320.2	-	19	1966	c.1652G>T	c.(1651-1653)tGg>tTg	p.W551L	STAT4_ENST00000358470.4_Missense_Mutation_p.W551L	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	551					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGCCATGTCCAAAAGGTAAA	0.289000													10	709					6.40141e-05	0.00117365	6.40141e-05	1	0
TNXB	7148	broad.mit.edu	37	6	32046907	32046907	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:32046907G>T	ENST00000375244.3	-	11	4479	c.4278C>A	c.(4276-4278)acC>acA	p.T1426T	TNXB_ENST00000375247.2_Silent_p.T1426T			P22105	TENX_HUMAN	tenascin XB	1513	Fibronectin type-III 6.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGCCTCCCACGGTGACCTCAC	0.687000													10	453					3.86212e-05	0.000778902	0.000673444	1	0
DIO1	1733	broad.mit.edu	37	1	54370394	54370394	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54370394C>A	ENST00000361921.3	+	2	417	c.393C>A	c.(391-393)ttC>ttA	p.F131L	DIO1_ENST00000532493.1_Intron|DIO1_ENST00000388876.3_Intron|DIO1_ENST00000525202.1_Missense_Mutation_p.F67L|DIO1_ENST00000524406.1_Missense_Mutation_p.F2L|DIO1_ENST00000534069.1_3'UTR|DIO1_ENST00000322679.6_Missense_Mutation_p.F131L	NM_000792.5|NM_213593.3	NP_000783.2|NP_998758.1	P49895	IOD1_HUMAN	deiodinase, iodothyronine, type I	131					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						CATTTATGTTCAAATTTGACC	0.393000													12	696					7.93312e-07	2.45534e-05	0.000219431	1	0
ASH1L	55870	broad.mit.edu	37	1	155448756	155448756	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:155448756C>A	ENST00000368346.3	-	3	4544	c.3905G>T	c.(3904-3906)cGg>cTg	p.R1302L	ASH1L_ENST00000392403.3_Missense_Mutation_p.R1302L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1302					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ATGAGTGATCCGAATTTCACT	0.393000													10	560					6.40141e-05	0.00117365	6.40141e-05	1	0
VPS13B	157680	broad.mit.edu	37	8	100123331	100123331	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:100123331G>T	ENST00000395996.1	+	6	697	c.586G>T	c.(586-588)Gat>Tat	p.D196Y	VPS13B_ENST00000358544.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000355155.1_Missense_Mutation_p.D196Y|VPS13B_ENST00000441350.2_Missense_Mutation_p.D196Y|VPS13B_ENST00000357162.2_Missense_Mutation_p.D196Y			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	196					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTAGCAACTGATTTGGTGCT	0.274000													9	318					3.07112e-06	8.57171e-05	6.40141e-05	1	0
NRXN1	9378	broad.mit.edu	37	2	50765565	50765565	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:50765565G>T	ENST00000404971.1	-	11	3428	c.2089C>A	c.(2089-2091)Cgg>Agg	p.R697R	NRXN1_ENST00000406859.3_Silent_p.R657R|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Silent_p.R649R|NRXN1_ENST00000405472.3_Silent_p.R649R|NRXN1_ENST00000406316.2_Silent_p.R657R|NRXN1_ENST00000401669.2_Silent_p.R657R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	657	EGF-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCCATTTGCCGGATATCTTTG	0.502000													12	1285					0.000274275	0.0039602	0.000274275	1	0
ZNF780A	284323	broad.mit.edu	37	19	40580666	40580666	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:40580666T>C	ENST00000450241.2	-	6	1892	c.1581A>G	c.(1579-1581)gaA>gaG	p.E527E	ZNF780A_ENST00000595687.2_Silent_p.E561E|ZNF780A_ENST00000340963.5_Silent_p.E561E|ZNF780A_ENST00000455521.1_Silent_p.E562E|ZNF780A_ENST00000594395.1_Silent_p.E562E|ZNF780A_ENST00000414720.2_Intron|AC005614.5_ENST00000595508.1_RNA			O75290	Z780A_HUMAN	zinc finger protein 780A	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTCCCACATTCCTTACATT	0.388000													6	735					0	0	8.12818e-05	0	0
VCAN	1462	broad.mit.edu	37	5	82868255	82868255	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:82868255C>A	ENST00000265077.3	+	13	10321	c.9756C>A	c.(9754-9756)ccC>ccA	p.P3252P	VCAN_ENST00000512590.2_Silent_p.P1450P|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Silent_p.P1498P|VCAN_ENST00000343200.5_Silent_p.P2265P|VCAN_ENST00000502527.2_Silent_p.P511P	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3252	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ATTGGAGACCCAACCAGCCAG	0.423000													8	630					1.58986e-06	4.62318e-05	0.000673444	1	0
DNTT	1791	broad.mit.edu	37	10	98092312	98092312	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:98092312G>T	ENST00000419175.1	+	9	1488	c.1318G>T	c.(1318-1320)Gag>Tag	p.E440*	DNTT_ENST00000371174.2_Nonsense_Mutation_p.E440*	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	440	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTGCCCCTACGAGCGTCGTGC	0.542000													8	576					0.000673444	0.00785517	0.000673444	1	0
HTR3A	3359	broad.mit.edu	37	11	113856786	113856786	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:113856786C>A	ENST00000504030.2	+	6	1039	c.594C>A	c.(592-594)tcC>tcA	p.S198S	HTR3A_ENST00000299961.5_Silent_p.S183S|HTR3A_ENST00000355556.2_Silent_p.S204S|HTR3A_ENST00000506841.2_Silent_p.S198S|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000375498.2_Silent_p.S204S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	198					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	AGGTGAAATCCGACAGGAGTG	0.502000													10	894					0.000442599	0.00556767	0.000442599	1	0
PCP4	5121	broad.mit.edu	37	21	41300976	41300976	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:41300976G>A	ENST00000328619.5	+	3	314	c.129G>A	c.(127-129)gcG>gcA	p.A43A	PCP4_ENST00000468717.1_3'UTR	NM_006198.2	NP_006189.2	P48539	PCP4_HUMAN	Purkinje cell protein 4	43	IQ.				central nervous system development	cytosol|nucleus		p.A43A(1)		large_intestine(2)|lung(1)|skin(1)	4		Prostate(19;2.65e-06)|all_epithelial(19;0.138)				AACGTGCAGCGGTGGCCATTC	0.463000													25	322					0	0	0.000227799	0	0
ZNF200	0	broad.mit.edu	37	16	3274343	3274343	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:3274343C>A	ENST00000431561.3	-	5	1349	c.737G>T	c.(736-738)cGg>cTg	p.R246L	ZNF200_ENST00000575948.1_Missense_Mutation_p.R245L|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000396871.4_Missense_Mutation_p.R245L|ZNF200_ENST00000414144.2_Missense_Mutation_p.R246L|ZNF200_ENST00000396868.3_Missense_Mutation_p.R245L|ZNF200_ENST00000396870.4_Missense_Mutation_p.R245L	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						CCTTGTCCTCCGATTTCGAGT	0.413000													7	560					0.000274275	0.0039602	0.000274275	1	0
PTPRA	0	broad.mit.edu	37	20	3016525	3016525	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:3016525C>G	ENST00000216877.6	+	21	2509	c.2109C>G	c.(2107-2109)atC>atG	p.I703M	PTPRA_ENST00000380393.3_Missense_Mutation_p.I712M|PTPRA_ENST00000399903.2_Missense_Mutation_p.I712M|PTPRA_ENST00000425918.2_Missense_Mutation_p.I723M|PTPRA_ENST00000356147.3_Missense_Mutation_p.I703M|PTPRA_ENST00000318266.5_Missense_Mutation_p.I703M|PTPRA_ENST00000358719.4_Missense_Mutation_p.I568M	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	712	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TGATCAGCATCATCGCCGCCG	0.587000													60	273					0	0	0.000781405	0	0
ZNF511	118472	broad.mit.edu	37	10	135126314	135126314	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:135126314G>T	ENST00000361518.5	+	6	1172	c.703G>T	c.(703-705)Ggt>Tgt	p.G235C	ZNF511_ENST00000463816.2_3'UTR|ZNF511_ENST00000359035.3_3'UTR|ZNF511_ENST00000368554.4_Intron	NM_145806.2	NP_665805.2	Q8NB15	ZN511_HUMAN	zinc finger protein 511	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		CATCTGCTTTGGTCAGGGTGC	0.473000													10	968					6.40141e-05	0.00117365	6.40141e-05	1	0
KDM1B	221656	broad.mit.edu	37	6	18222194	18222194	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:18222194C>A	ENST00000388870.2	+	22	2684	c.2443C>A	c.(2443-2445)Cga>Aga	p.R815R	KDM1B_ENST00000397244.1_Silent_p.R583R|KDM1B_ENST00000297792.5_Silent_p.R582R|KDM1B_ENST00000546309.2_Silent_p.R105R			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	814					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GAGTGGCGTTCGAGAAGCAAG	0.403000													9	515					6.40141e-05	0.00117365	6.40141e-05	1	0
MCF2L2	23101	broad.mit.edu	37	3	182910813	182910813	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:182910813G>T	ENST00000328913.3	-	27	3287	c.2990C>A	c.(2989-2991)cCg>cAg	p.P997Q	MCF2L2_ENST00000473233.1_Missense_Mutation_p.P997Q|MCF2L2_ENST00000468976.1_5'UTR	NM_015078.2	NP_055893.2	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	997					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCTGGAGGCCGGGTCTTCCTT	0.493000													8	519					0.000673444	0.00785517	0.000673444	1	0
AOX1	316	broad.mit.edu	37	2	201534342	201534342	+	Missense_Mutation	SNP	C	C	A	rs150685936	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:201534342C>A	ENST00000374700.2	+	34	4084	c.3843C>A	c.(3841-3843)ttC>ttA	p.F1281L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1281					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGTTTTTCGCTATCCATG	0.522000													10	771					6.40141e-05	0.00117365	6.40141e-05	1	0
CARM1	10498	broad.mit.edu	37	19	11022906	11022906	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:11022906C>T	ENST00000327064.4	+	5	795	c.605C>T	c.(604-606)gCc>gTc	p.A202V	CARM1_ENST00000344150.4_Missense_Mutation_p.A202V	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	202					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding	p.A202V(2)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						TCGTTTTTTGCCGCCCAAGCT	0.622000													8	1033					0	0	3.59834e-05	0	0
THOC2	57187	broad.mit.edu	37	X	122800961	122800961	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:122800961G>T	ENST00000245838.8	-	11	1217	c.1186C>A	c.(1186-1188)Cga>Aga	p.R396R	THOC2_ENST00000355725.4_Silent_p.R396R|THOC2_ENST00000491737.1_Silent_p.R281R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	396					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACATACCTTCGGTAGAGAGGC	0.348000													10	871					0.000442599	0.00556767	0.000442599	1	0
SENP6	26054	broad.mit.edu	37	6	76425185	76425185	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:76425185C>A	ENST00000370014.3	+	24	3833	c.3214C>A	c.(3214-3216)Cga>Aga	p.R1072R	SENP6_ENST00000541192.1_3'UTR|SENP6_ENST00000370010.2_Silent_p.R1065R|SENP6_ENST00000447266.2_Silent_p.R1072R	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	1072	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGAAGAAATCCGAAACATAAT	0.368000													9	469					7.48243e-07	2.35076e-05	0.000442599	1	0
PSG3	5671	broad.mit.edu	37	19	43237144	43237144	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:43237144T>G	ENST00000327495.5	-	3	685	c.501A>C	c.(499-501)ttA>ttC	p.L167F	PSG3_ENST00000595140.1_Missense_Mutation_p.L167F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	167	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GATCACAGGTTAAGCTCACAG	0.522000													29	895					0	0	0.000409698	0	0
TTLL6	284076	broad.mit.edu	37	17	46862366	46862366	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:46862366C>T	ENST00000393382.3	-	13	2100	c.1959G>A	c.(1957-1959)tcG>tcA	p.S653S	TTLL6_ENST00000433608.2_Silent_p.S346S	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	605						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GCTCCAACTTCGAGCTGCTGA	0.542000													70	398					0	0	0.000781405	0	0
CBX4	8535	broad.mit.edu	37	17	77808649	77808649	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:77808649G>T	ENST00000269397.4	-	5	969	c.792C>A	c.(790-792)atC>atA	p.I264I		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	264	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)			TGCTCATCACGATCACGATGC	0.582000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	1259					7.48243e-07	2.35076e-05	0.000442599	1	0
BRWD1	54014	broad.mit.edu	37	21	40578076	40578076	+	Missense_Mutation	SNP	C	C	A	rs147847700	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:40578076C>A	ENST00000342449.3	-	37	4400	c.4322G>T	c.(4321-4323)cGg>cTg	p.R1441L	BRWD1_ENST00000380800.3_Missense_Mutation_p.R1441L|BRWD1_ENST00000333229.2_Missense_Mutation_p.R1441L	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1441					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAATTTTGCCGTTGCTTGAA	0.328000													9	869					0.000673444	0.00785517	0.000673444	1	0
IKZF1	10320	broad.mit.edu	37	7	50455075	50455075	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:50455075C>T	ENST00000331340.3	+	6	777	c.622C>T	c.(622-624)Cga>Tga	p.R208*	IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000343574.5_Nonsense_Mutation_p.R121*|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000439701.1_Intron|IKZF1_ENST00000438033.1_Nonsense_Mutation_p.R121*	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ATATTGTGGCCGAAGCTATAA	0.473000			"""D,T"""	BCL6	"""ALL, DLBCL"""								19	124					0	0	9.7654e-05	0	0
PDSS1	23590	broad.mit.edu	37	10	26998640	26998640	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:26998640G>T	ENST00000376215.5	+	5	463	c.410G>T	c.(409-411)cGa>cTa	p.R137L	PDSS1_ENST00000376203.5_Missense_Mutation_p.R137L	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	137					isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						AAAGCCTTTCGACCAATTATT	0.383000													11	667					0.000151284	0.00252221	0.000151284	1	0
DZIP3	9666	broad.mit.edu	37	3	108353719	108353719	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:108353719G>C	ENST00000361582.3	+	10	1048	c.816_splice	c.e10-1	p.G273_splice	DZIP3_ENST00000463306.1_Splice_Site_p.G273_splice	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	273					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254000													13	318					0	0	0.000219431	0	0
SUPT5H	6829	broad.mit.edu	37	19	39963541	39963541	+	Silent	SNP	C	C	A	rs146582409		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:39963541C>A	ENST00000599117.1	+	23	2494	c.2127C>A	c.(2125-2127)acC>acA	p.T709T	SUPT5H_ENST00000359191.6_Silent_p.T705T|SUPT5H_ENST00000432763.2_Silent_p.T709T|SUPT5H_ENST00000598725.1_Silent_p.T709T|SUPT5H_ENST00000402194.2_Silent_p.T705T			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	709	KOW 5.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TCGGCCAGACCGTGCGCATCT	0.677000													5	180					8.12818e-05	0.00148589	8.12818e-05	1	0
WWC3	55841	broad.mit.edu	37	X	10090729	10090729	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:10090729G>T	ENST00000380861.4	+	12	2092	c.1701G>T	c.(1699-1701)tcG>tcT	p.S567S	WWC3_ENST00000454666.1_Silent_p.S567S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	567										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CATGTCTGTCGGATTATTCGC	0.522000													14	1297					0.000274275	0.0039602	0.000274275	1	0
B4GALT2	8704	broad.mit.edu	37	1	44455983	44455983	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:44455983C>A	ENST00000356836.6	+	7	1772	c.982C>A	c.(982-984)Caa>Aaa	p.Q328K	B4GALT2_ENST00000372324.1_Missense_Mutation_p.Q328K|B4GALT2_ENST00000434555.2_Missense_Mutation_p.Q262K|B4GALT2_ENST00000309519.7_Missense_Mutation_p.Q357K	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	328					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	TACCAAGATTCAAAACACGAA	0.473000													14	1226					5.3912e-06	0.000142319	0.00074312	1	0
SCAND3	114821	broad.mit.edu	37	6	28543364	28543364	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:28543364G>T	ENST00000452236.2	-	3	1735	c.1118C>A	c.(1117-1119)tCa>tAa	p.S373*		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	373	Integrase catalytic.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTGGCATCTTGAACTAACTTC	0.338000													9	548					1.12685e-05	0.000275198	0.000274275	1	0
ASB15	142685	broad.mit.edu	37	7	123269090	123269090	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:123269090G>A	ENST00000451558.1	+	12	1563	c.1042G>A	c.(1042-1044)Gat>Aat	p.D348N	ASB15_ENST00000275699.3_Missense_Mutation_p.D348N|ASB15_ENST00000451215.1_Missense_Mutation_p.D348N|ASB15_ENST00000540573.1_Missense_Mutation_p.D348N|ASB15_ENST00000434204.1_Missense_Mutation_p.D348N			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAGCTATGACGATGAGAGGAA	0.453000													72	525					0	0	0.000781405	0	0
ZNF217	7764	broad.mit.edu	37	20	52193233	52193233	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:52193233G>T	ENST00000371471.2	-	4	2495	c.2070C>A	c.(2068-2070)tcC>tcA	p.S690S	ZNF217_ENST00000302342.3_Silent_p.S690S			O75362	ZN217_HUMAN	zinc finger protein 217	690					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GAGCCCCCACGGATAAATTTA	0.428000													11	595					0.00010058	0.00173709	0.00010058	1	0
PAXBP1	94104	broad.mit.edu	37	21	34109641	34109641	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:34109641G>T	ENST00000331923.4	-	17	2749	c.2560C>A	c.(2560-2562)Cga>Aga	p.R854R	PAXBP1-AS1_ENST00000440052.1_RNA	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1																		ACAAGGTATCGGCAAAAGTTT	0.343000													9	424					0.000442599	0.00556767	0.000442599	1	0
TRIM42	287015	broad.mit.edu	37	3	140401695	140401695	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401695C>T	ENST00000286349.3	+	2	924	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	245						intracellular	zinc ion binding	p.R245C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCAACAAGCGCATCGCTTA	0.617000													42	348					0	0	0.000509022	0	0
AP4B1	10717	broad.mit.edu	37	1	114442814	114442814	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:114442814G>A	ENST00000369569.1	-	5	1106	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	AP4B1_ENST00000369566.3_Missense_Mutation_p.R183W|AP4B1_ENST00000256658.4_Missense_Mutation_p.R276W|AP4B1_ENST00000369567.1_Missense_Mutation_p.R108W|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	276					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.R276W(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCTTGACCCGCACAAGGACA	0.483000													6	336					0	0	3.59834e-05	0	0
GATA2	2624	broad.mit.edu	37	3	128200016	128200016	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:128200016G>T	ENST00000341105.2	-	6	1620	c.1289C>A	c.(1288-1290)gCa>gAa	p.A430E	GATA2_ENST00000487848.1_Missense_Mutation_p.A430E|GATA2_ENST00000430265.2_Missense_Mutation_p.A416E|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	430					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		CAGGGCAGCTGCACTGAAGGG	0.612000			Mis		AML(CML blast transformation)								29	284					1.80694e-10	7.01678e-09	0.000279167	1	0
DEPDC1	55635	broad.mit.edu	37	1	68944984	68944984	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:68944984C>A	ENST00000456315.2	-	10	2069	c.1955G>T	c.(1954-1956)cGa>cTa	p.R652L	RP4-694A7.2_ENST00000425820.1_RNA|DEPDC1_ENST00000370966.5_Missense_Mutation_p.R368L	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	652	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		TAACACACATCGAGAAAAGGT	0.333000													6	221					0.000157383	0.00254253	0.000157383	1	0
NXF5	55998	broad.mit.edu	37	X	101097757	101097757	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:101097757C>A	ENST00000537026.1	-	3	367	c.8G>T	c.(7-9)cGg>cTg	p.R3L	NXF5_ENST00000361708.2_Missense_Mutation_p.R3L|NXF5_ENST00000473265.2_Missense_Mutation_p.R3L	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	3					mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						TTGTGTGTTCCGCCTCATTTT	0.423000													11	1017					3.09899e-07	9.98704e-06	0.000274275	1	0
KIAA2022	340533	broad.mit.edu	37	X	73963428	73963428	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:73963428G>T	ENST00000373468.1	-	3	1615	c.964C>A	c.(964-966)Cga>Aga	p.R322R	KIAA2022_ENST00000055682.5_Silent_p.R322R			Q5QGS0	K2022_HUMAN	KIAA2022	322					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.R322*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GTCTTGTCTCGAACATTGTCC	0.438000													8	592					0.000274275	0.0039602	0.000274275	1	0
IKBKAP	8518	broad.mit.edu	37	9	111678495	111678495	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:111678495G>T	ENST00000374647.5	-	10	1254	c.947C>A	c.(946-948)cCg>cAg	p.P316Q	IKBKAP_ENST00000537196.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	316					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGGTTTTCGGAATGGAGCT	0.453000													10	491					2.17888e-05	0.00047966	0.000442599	1	0
KDELC1	79070	broad.mit.edu	37	13	103443642	103443642	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103443642C>A	ENST00000376004.4	-	5	1147	c.811G>T	c.(811-813)Gat>Tat	p.D271Y	KDELC1_ENST00000460338.1_5'UTR	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	271						endoplasmic reticulum lumen				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TCAGTCAAATCGTACGTAGGC	0.453000													12	1214					0.00010058	0.00173709	0.00010058	1	0
FAM114A2	10827	broad.mit.edu	37	5	153381896	153381896	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:153381896C>A	ENST00000351797.4	-	11	1247	c.1171G>T	c.(1171-1173)Gaa>Taa	p.E391*	FAM114A2_ENST00000520667.1_Nonsense_Mutation_p.E391*|FAM114A2_ENST00000520313.1_Nonsense_Mutation_p.E321*|FAM114A2_ENST00000522858.1_Nonsense_Mutation_p.E391*	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	391							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TGGAATAGTTCAATTGAGCAG	0.443000													9	491					6.40141e-05	0.00117365	6.40141e-05	1	0
RASGRP3	25780	broad.mit.edu	37	2	33745672	33745672	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:33745672C>A	ENST00000403687.3	+	6	1029	c.289C>A	c.(289-291)Cgt>Agt	p.R97S	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R97S|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R97S	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	97	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.R97S(2)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGTTTGATTCGTATGACTGA	0.423000													10	844					0.000442599	0.00556767	0.000442599	1	0
LRP1B	53353	broad.mit.edu	37	2	141946086	141946086	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141946086C>A	ENST00000389484.3	-	7	1888	c.917G>T	c.(916-918)cGg>cTg	p.R306L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	306					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R306Q(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACAAAGATCCGGTCACCGAC	0.413000										TSP Lung(27;0.18)			10	422					6.40141e-05	0.00117365	6.40141e-05	1	0
MLLT4	4301	broad.mit.edu	37	6	168265341	168265341	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:168265341C>A	ENST00000366806.2	+	2	358	c.216C>A	c.(214-216)atC>atA	p.I72I	MLLT4_ENST00000392108.3_Silent_p.I72I|MLLT4_ENST00000447894.2_Silent_p.I72I|MLLT4_ENST00000344191.4_Silent_p.I72I|MLLT4_ENST00000400822.3_Silent_p.I72I|MLLT4_ENST00000351017.4_Silent_p.I72I|MLLT4_ENST00000392112.1_Silent_p.I72I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	72	Ras-associating 1.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AAGATGTAATCGAAACGCTCG	0.438000			T	MLL	AL								9	950					0.000274275	0.0039602	0.000274275	1	0
ZNF181	339318	broad.mit.edu	37	19	35231549	35231549	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:35231549C>A	ENST00000392232.3	+	6	563	c.395C>A	c.(394-396)tCa>tAa	p.S132*	ZNF181_ENST00000492450.1_Nonsense_Mutation_p.S88*|ZNF181_ENST00000459757.1_Nonsense_Mutation_p.S87*			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	88					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)			AAGGAATTATCAACAAAGAAG	0.264000													12	602					3.27435e-08	1.13729e-06	0.000219431	1	0
CXorf22	170063	broad.mit.edu	37	X	35993949	35993949	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:35993949C>A	ENST00000297866.5	+	15	2698	c.2632C>A	c.(2632-2634)Cgt>Agt	p.R878S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	878										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGTATAATCGTCAGAATTG	0.403000													13	859					0.000308642	0.00435582	0.000308642	1	0
PCDH11X	27328	broad.mit.edu	37	X	91090850	91090850	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:91090850C>A	ENST00000373094.1	+	1	1192	c.347C>A	c.(346-348)cCg>cAg	p.P116Q	PCDH11X_ENST00000406881.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.P116Q|PCDH11X_ENST00000504220.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361724.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.P116Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.P116Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	116	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.P116Q(3)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCCATTTTGCCGGATGAAATA	0.393000													9	469					0.000442599	0.00556767	0.000442599	1	0
GSR	2936	broad.mit.edu	37	8	30539560	30539560	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:30539560C>A	ENST00000221130.5	-	11	1262	c.1172G>T	c.(1171-1173)cGa>cTa	p.R391L	GSR_ENST00000541648.1_Missense_Mutation_p.R338L|GSR_ENST00000546342.1_Missense_Mutation_p.R362L|GSR_ENST00000537535.1_Missense_Mutation_p.R309L|GSR_ENST00000414019.1_Missense_Mutation_p.R348L	NM_000637.3|NM_001195102.1|NM_001195103.1	NP_000628.2|NP_001182031.1|NP_001182032.1	P00390	GSHR_HUMAN	glutathione reductase	391					cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion	cytosol|mitochondrion	electron carrier activity|glutathione-disulfide reductase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	23				KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125)	Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157)	GGCAAGTTTTCGGCCAGCAGC	0.383000													10	582					5.50884e-06	0.000142319	0.00010058	1	0
ANK2	287	broad.mit.edu	37	4	114274328	114274328	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:114274328C>A	ENST00000357077.4	+	38	4607	c.4554C>A	c.(4552-4554)acC>acA	p.T1518T	ANK2_ENST00000264366.6_Silent_p.T1485T|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1485					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCAAAATGACCGCCATCTTGA	0.458000													9	522					0.000673444	0.00785517	0.000673444	1	0
ZNF557	79230	broad.mit.edu	37	19	7082034	7082034	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7082034C>A	ENST00000414706.1	+	7	870	c.397C>A	c.(397-399)Cga>Aga	p.R133R	ZNF557_ENST00000439035.2_Silent_p.R126R|ZNF557_ENST00000252840.6_Silent_p.R133R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GCATGTTTTTCGAAAAGAACA	0.348000													7	368					0.000673444	0.00785517	0.000673444	1	0
DNAJC10	54431	broad.mit.edu	37	2	183622482	183622482	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:183622482C>A	ENST00000264065.6	+	19	2288	c.1873C>A	c.(1873-1875)Cag>Aag	p.Q625K		NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	625	Thioredoxin 3.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTTTTGTGCCCAGGAAAACGT	0.333000													7	480					0.000274275	0.0039602	0.000274275	1	0
TBC1D3P2	0	broad.mit.edu	37	17	60342197	60342197	+	RNA	SNP	T	T	C	rs76635225		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:60342197T>C	ENST00000581291.1	-	0	1956																				breast(2)|kidney(1)|lung(2)	5						TGGGAGGGGCTGGGCATGGTT	0.488000													6	76					0	0	8.12818e-05	0	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													4	183					0	0	0.00024832	0	0
OBFC1	79991	broad.mit.edu	37	10	105664909	105664909	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:105664909C>A	ENST00000224950.3	-	4	402	c.235G>T	c.(235-237)Gac>Tac	p.D79Y	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D79Y	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	79					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		CCAGTGCTGTCATCCACTGCA	0.398000													10	568					0.000442599	0.00556767	0.000442599	1	0
ZNF844	284391	broad.mit.edu	37	19	12187475	12187475	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12187475C>G	ENST00000439326.3	+	4	1715	c.1540C>G	c.(1540-1542)Cat>Gat	p.H514D	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H514D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						AAAGCCTTCACATCTGCCTCA	0.408000													7	265					0	0	0.000442599	0	0
EP400	57634	broad.mit.edu	37	12	132537935	132537935	+	Silent	SNP	A	A	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:132537935A>C	ENST00000333577.4	+	44	7738	c.7629A>C	c.(7627-7629)ccA>ccC	p.P2543P	EP400_ENST00000330386.6_Silent_p.P2426P|EP400_ENST00000389562.2_Silent_p.P2506P|EP400_ENST00000332482.4_Silent_p.P2470P|EP400_ENST00000389561.2_Silent_p.P2507P			Q96L91	EP400_HUMAN	E1A binding protein p400	2543	Interaction with ZNF42 (By similarity).|Poly-Pro.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TGGCCCAgccacccccgcccc	0.731000													10	69					0	0	0.000308642	0	0
ING5	84289	broad.mit.edu	37	2	242650884	242650884	+	Silent	SNP	C	C	A	rs142180451	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:242650884C>A	ENST00000313552.6	+	4	395	c.369C>A	c.(367-369)tcC>tcA	p.S123S	ING5_ENST00000482774.1_3'UTR|ING5_ENST00000406941.1_Silent_p.S123S	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	123					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TTGAAAGCTCCGGAGGGCGAG	0.393000													12	801					1.3612e-06	4.17169e-05	0.000308642	1	0
GPR107	0	broad.mit.edu	37	9	132854660	132854660	+	Splice_Site	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:132854660G>T	ENST00000372406.1	+	9	1370	c.863_splice	c.e9+1	p.R288_splice	GPR107_ENST00000347136.6_Splice_Site_p.R288_splice|GPR107_ENST00000372410.3_Splice_Site_p.R288_splice	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	288						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CGAAAACGACGGTAAACTATT	0.418000													8	606					5.50884e-06	0.000142319	0.00010058	1	0
C6orf136	221545	broad.mit.edu	37	6	30619054	30619054	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30619054G>T	ENST00000293604.6	+	4	1311	c.1118G>T	c.(1117-1119)tGg>tTg	p.W373L	C6orf136_ENST00000376473.5_Missense_Mutation_p.W192L|C6orf136_ENST00000528347.2_Missense_Mutation_p.W49L|C6orf136_ENST00000376471.4_Missense_Mutation_p.W58L	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	192										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCCGGACATGGTACATTCTT	0.493000													17	1621					2.31682e-05	0.000501203	0.000308642	1	0
LRP1B	53353	broad.mit.edu	37	2	141816539	141816539	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:141816539G>T	ENST00000389484.3	-	9	2292	c.1321C>A	c.(1321-1323)Cga>Aga	p.R441R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328000										TSP Lung(27;0.18)			11	494					1.58986e-06	4.62318e-05	0.000673444	1	0
CACNA1S	779	broad.mit.edu	37	1	201019522	201019522	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:201019522C>T	ENST00000362061.3	-	34	4462	c.4236G>A	c.(4234-4236)gaG>gaA	p.E1412E	CACNA1S_ENST00000367338.3_Silent_p.E1393E	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1412					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCACTTAGCCTCTGGGTCAT	0.532000													25	223					0	0	0.00047179	0	0
SNAPC3	6619	broad.mit.edu	37	9	15459726	15459726	+	Silent	SNP	G	G	T	rs113748924	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:15459726G>T	ENST00000380821.3	+	9	1274	c.1098G>T	c.(1096-1098)acG>acT	p.T366T		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	366					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		GATGGGTGACGAACAATGACA	0.373000													8	504					6.40141e-05	0.00117365	6.40141e-05	1	0
KLHL5	51088	broad.mit.edu	37	4	39077672	39077672	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39077672C>A	ENST00000261425.3	+	3	623	c.471C>A	c.(469-471)gcC>gcA	p.A157A	KLHL5_ENST00000504108.1_Silent_p.A203A|KLHL5_ENST00000359687.2_Silent_p.A203A|KLHL5_ENST00000508137.2_Silent_p.A16A|KLHL5_ENST00000381930.3_Silent_p.A203A|KLHL5_ENST00000261426.5_Intron	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	203						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TTAATCATGCCGAGCAAACAT	0.368000													8	526					0.000274275	0.0039602	0.000274275	1	0
SLC26A7	115111	broad.mit.edu	37	8	92364116	92364116	+	Splice_Site	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:92364116G>C	ENST00000276609.3	+	10	1457		c.e10+1		SLC26A7_ENST00000520249.1_Splice_Site|SLC26A7_ENST00000523719.1_Splice_Site|SLC26A7_ENST00000309536.2_Splice_Site	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7							basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			GCTGCCCATGGTACGGTAGTG	0.343000													77	636					0	0	0.000781405	0	0
CCNB3	85417	broad.mit.edu	37	X	50053963	50053963	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:50053963G>A	ENST00000376042.1	+	6	3092	c.2794G>A	c.(2794-2796)Gct>Act	p.A932T	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.A932T			Q8WWL7	CCNB3_HUMAN	cyclin B3	932					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AGATATGATAGCTCTGAATGA	0.463000													6	413					0	0	3.59834e-05	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233928	61233928	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:61233928G>T	ENST00000382768.1	+	7	962	c.962G>T	c.(961-963)cGg>cTg	p.R321L	SERPINB12_ENST00000269491.1_Missense_Mutation_p.R301L			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	301					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TCCTTCCCCCGGTTCACCCTG	0.448000													14	786					0.000566183	0.00706542	0.000566183	1	0
EPB41L3	23136	broad.mit.edu	37	18	5424355	5424355	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:5424355C>A	ENST00000341928.2	-	10	1409	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*	EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Nonsense_Mutation_p.E357*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E357*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	357	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAAATTGTTCAAACTAAATA	0.323000													12	480					5.50884e-06	0.000142319	0.00010058	1	0
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468000													8	455					0	0	0.000673444	0	0
KRT33B	3884	broad.mit.edu	37	17	39521158	39521158	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:39521158G>T	ENST00000251646.3	-	6	1019	c.970C>A	c.(970-972)Cag>Aag	p.Q324K		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	324	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCGCCAGCTGGGACTCCACG	0.617000													16	291					5.3912e-06	0.000142319	0.00074312	1	0
ASPM	259266	broad.mit.edu	37	1	197062302	197062302	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:197062302G>T	ENST00000367409.4	-	21	9430	c.9174C>A	c.(9172-9174)atC>atA	p.I3058I	ASPM_ENST00000367408.1_Silent_p.I723I|ASPM_ENST00000294732.7_Silent_p.I1473I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3058	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATTTTTGTATGATCAAAGCAG	0.383000													10	578					0.000442599	0.00556767	0.000442599	1	0
NAALAD2	10003	broad.mit.edu	37	11	89914807	89914807	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:89914807G>T	ENST00000534061.1	+	17	2108	c.1878G>T	c.(1876-1878)gtG>gtT	p.V626V	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Silent_p.V593V	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	626					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTTCTGCTGTGAAAAACTTCT	0.318000													10	589					0.00010058	0.00173709	0.00010058	1	0
SCLT1	132320	broad.mit.edu	37	4	129873955	129873955	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:129873955C>A	ENST00000281142.5	-	14	1690	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	SCLT1_ENST00000503215.1_Intron|SCLT1_ENST00000434680.1_Intron|SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000502495.1_5'UTR	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	396						centrosome				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTCTGTTAATCGAGAAATTTG	0.264000													10	843					0.000219431	0.00342116	0.000219431	1	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													6	24					0	0	8.12818e-05	0	0
TMEM198	130612	broad.mit.edu	37	2	220412305	220412305	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220412305C>A	ENST00000344458.2	+	4	829	c.244C>A	c.(244-246)Cga>Aga	p.R82R	TMEM198_ENST00000373883.3_Silent_p.R82R|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	82	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCTCTGCTACCGAGAGCGGGT	0.632000													10	991					6.40141e-05	0.00117365	6.40141e-05	1	0
FLG	2312	broad.mit.edu	37	1	152278046	152278046	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152278046C>A	ENST00000368799.1	-	3	9351	c.9316G>T	c.(9316-9318)Ggt>Tgt	p.G3106C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3106	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGTCCTGACCGTATTGGGAT	0.597000									Ichthyosis				11	1230					0.00010058	0.00173709	0.00010058	1	0
SRBD1	55133	broad.mit.edu	37	2	45826684	45826684	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:45826684G>T	ENST00000263736.4	-	4	614	c.552C>A	c.(550-552)atC>atA	p.I184I		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	184					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TCTCAGTCTTGATTTTCTTTA	0.448000													10	801					0.000673444	0.00785517	0.000673444	1	0
AMPH	273	broad.mit.edu	37	7	38471789	38471789	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38471789C>T	ENST00000356264.2	-	13	1373	c.1158_splice	c.e13+1	p.T386_splice	AMPH_ENST00000428293.2_Splice_Site_p.T386_splice|AMPH_ENST00000325590.5_Splice_Site_p.T386_splice	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	386					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.T386T(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						AGTGGCTTACCGTCCATAGGT	0.323000													52	408					0	0	0.000781405	0	0
SPANXN2	494119	broad.mit.edu	37	X	142803706	142803706	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:142803706G>T	ENST00000370498.1	-	1	810	c.57C>A	c.(55-57)tcC>tcA	p.S19S		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	19										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGTTATTGGATTCACAGG	0.443000													11	997					2.52707e-12	9.93662e-11	0.000442599	1	0
NEUROD6	63974	broad.mit.edu	37	7	31378601	31378601	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:31378601G>T	ENST00000297142.3	-	2	604	c.282C>A	c.(280-282)ttC>ttA	p.F94L		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	94					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CCTGTCTCCTGAACTTGACCC	0.498000													15	805					2.4624e-09	9.16363e-08	0.000132079	1	0
ZNF14	7561	broad.mit.edu	37	19	19823005	19823005	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:19823005G>T	ENST00000344099.3	-	4	1223	c.1085C>A	c.(1084-1086)cCa>cAa	p.P362Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				ACATTCATATGGTTTTTCTCC	0.393000													8	416					0.000274275	0.0039602	0.000274275	1	0
ZNF610	162963	broad.mit.edu	37	19	52857575	52857575	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:52857575C>A	ENST00000403906.3	+	5	718	c.262C>A	c.(262-264)Caa>Aaa	p.Q88K	ZNF610_ENST00000321287.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000327920.8_Missense_Mutation_p.Q88K|ZNF610_ENST00000601151.1_Intron	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	88	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TCTGCAAAGTCAAGTTAAAAT	0.378000													8	444					1.12685e-05	0.000275198	0.000274275	1	0
ATPAF1	64756	broad.mit.edu	37	1	47101584	47101584	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:47101584C>A	ENST00000576409.1	-	9	982	c.920G>T	c.(919-921)cGg>cTg	p.R307L	ATPAF1_ENST00000371937.4_Missense_Mutation_p.R284L|ATPAF1_ENST00000532925.1_Missense_Mutation_p.R196L|ATPAF1_ENST00000329231.4_Missense_Mutation_p.R239L|ATPAF1_ENST00000574428.1_Missense_Mutation_p.R216L|ATPAF1_ENST00000542495.1_Missense_Mutation_p.R133L			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	284					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					GGTCTCTTTCCGATCAGTAGC	0.458000													10	926					0.000673444	0.00785517	0.000673444	1	0
PRDM2	7799	broad.mit.edu	37	1	14108532	14108532	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:14108532G>T	ENST00000235372.7	+	8	5098	c.4242G>T	c.(4240-4242)tcG>tcT	p.S1414S	PRDM2_ENST00000311066.5_Silent_p.S1414S|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Silent_p.S1213S|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Silent_p.S1213S	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1414	Arg/Lys-rich (basic).					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AAATGTCGTCGAATAAGCTCA	0.393000													9	412					3.86212e-05	0.000778902	0.000673444	1	0
ZNF99	7652	broad.mit.edu	37	19	22941336	22941336	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:22941336T>C	ENST00000397104.3	-	5	1101	c.1102A>G	c.(1102-1104)Agc>Ggc	p.S368G	ZNF99_ENST00000596209.1_Missense_Mutation_p.S459G					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCTGCATTCTTCA	0.358000													5	293					0	0	3.59834e-05	0	0
VCPIP1	80124	broad.mit.edu	37	8	67577279	67577279	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:67577279C>A	ENST00000310421.4	-	1	2173	c.1915G>T	c.(1915-1917)Ggg>Tgg	p.G639W		NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	639					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			ATTTCACTCCCAAATTCACCT	0.363000													10	724					2.17888e-05	0.00047966	0.000442599	1	0
SNHG14	0	broad.mit.edu	37	15	25327982	25327982	+	RNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:25327982C>A	ENST00000546682.1	+	0	188				SNHG14_ENST00000549804.2_RNA|SNORD116-16_ENST00000384533.1_RNA	NR_003361.1																						AACTCTATACCGTCATCCTCG	0.468000													15	1283					0.000219431	0.00342116	0.000219431	1	0
EBAG9	9166	broad.mit.edu	37	8	110576764	110576764	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:110576764C>A	ENST00000337573.5	+	7	918	c.618C>A	c.(616-618)aaC>aaA	p.N206K	EBAG9_ENST00000531677.1_Missense_Mutation_p.N251K|EBAG9_ENST00000395785.2_Missense_Mutation_p.N206K	NM_004215.3	NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	206					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGGAACAAAACAAAATTGGTG	0.388000													42	323					1.06644e-07	3.66341e-06	0.000319135	1	0
ZNF845	91664	broad.mit.edu	37	19	53855197	53855197	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:53855197G>A	ENST00000458035.1	+	4	1386	c.1269G>A	c.(1267-1269)atG>atA	p.M423I	ZNF845_ENST00000595091.1_Missense_Mutation_p.M423I	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TCAGTCAGATGTCATCCCTTG	0.413000													8	561					0	0	0.000673444	0	0
SCN9A	6335	broad.mit.edu	37	2	167083091	167083091	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:167083091G>T	ENST00000375387.4	-	24	4727	c.4387C>A	c.(4387-4389)Caa>Aaa	p.Q1463K	SCN9A_ENST00000409435.1_Missense_Mutation_p.Q1462K|SCN9A_ENST00000303354.6_Missense_Mutation_p.Q1463K|SCN9A_ENST00000409672.1_Missense_Mutation_p.Q1451K|AC010127.3_ENST00000447809.2_RNA			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1462						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TTTTTCTGTTGGTTGAAATTA	0.264000													6	144					0.000157383	0.00254253	0.000157383	1	0
LPAR1	1902	broad.mit.edu	37	9	113703751	113703751	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:113703751C>A	ENST00000374431.3	-	4	1126	c.743G>T	c.(742-744)cGg>cTg	p.R248L	LPAR1_ENST00000358883.4_Missense_Mutation_p.R248L|LPAR1_ENST00000541779.1_Missense_Mutation_p.R249L|LPAR1_ENST00000374430.2_Missense_Mutation_p.R248L|LPAR1_ENST00000538760.1_Missense_Mutation_p.R249L	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	248					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						ATCCCGATTCCGCCGGGGTCC	0.453000													10	367					0.000442599	0.00556767	0.000442599	1	0
LYST	1130	broad.mit.edu	37	1	235866228	235866228	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:235866228C>A	ENST00000389794.3	-	45	10367	c.10193G>T	c.(10192-10194)cGa>cTa	p.R3398L	LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R3398L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3398	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TTCTAGCGCTCGTCTCTGAAC	0.453000													11	688					0.000673444	0.00785517	0.000673444	1	0
MTUS1	57509	broad.mit.edu	37	8	17570754	17570754	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17570754C>A	ENST00000381869.3	-	5	2903	c.2430G>T	c.(2428-2430)tcG>tcT	p.S810S	MTUS1_ENST00000262102.6_Silent_p.S864S|MTUS1_ENST00000381861.3_Silent_p.S111S|MTUS1_ENST00000519263.1_Silent_p.S810S|MTUS1_ENST00000544260.1_Silent_p.S9S	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	864						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AATTTTTTCTCGAAGGACCTA	0.264000													12	663					3.27435e-08	1.13729e-06	0.000219431	1	0
PRCP	5547	broad.mit.edu	37	11	82549486	82549486	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:82549486C>A	ENST00000313010.3	-	8	1411	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	PRCP_ENST00000535099.1_Missense_Mutation_p.W301L|PRCP_ENST00000393399.2_Missense_Mutation_p.W427L|PRCP_ENST00000525772.1_5'UTR	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	406					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						AGTAGTGATCCAGGAGGGCCT	0.413000													9	445					3.09899e-07	9.98704e-06	0.000274275	1	0
SUGT1	10910	broad.mit.edu	37	13	53231718	53231718	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:53231718C>A	ENST00000310528.7	+	3	203	c.148C>A	c.(148-150)Caa>Aaa	p.Q50K	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000535397.1_5'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.Q50K	NM_006704.3	NP_006695.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	50					mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		GTATTATTGTCAAAGAGCTTA	0.353000													8	361					0.000442599	0.00556767	0.000442599	1	0
PCBP3	54039	broad.mit.edu	37	21	47359992	47359992	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:47359992C>A	ENST00000400314.1	+	15	1296	c.958C>A	c.(958-960)Cga>Aga	p.R320R	PCBP3_ENST00000468429.1_3'UTR|PCBP3_ENST00000400310.1_Silent_p.R300R|PCBP3_ENST00000400309.1_Silent_p.R319R|PCBP3_ENST00000449640.1_Silent_p.R320R|PCBP3_ENST00000400304.1_Silent_p.R310R|PCBP3_ENST00000400308.1_Silent_p.R294R			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	320	KH 3.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAATGAAATTCGACAGATGTC	0.537000													16	686					3.32936e-07	1.06744e-05	0.00074312	1	0
TMCC1	23023	broad.mit.edu	37	3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572000													6	311					0	0	0.000274275	0	0
SRCIN1	80725	broad.mit.edu	37	17	36708223	36708223	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:36708223C>T	ENST00000264659.7	-	14	2850	c.2626G>A	c.(2626-2628)Ggg>Agg	p.G876R	SRCIN1_ENST00000578925.1_Missense_Mutation_p.G910R|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	748	Pro-rich.				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						TCAGCTGGCCCGCTCAGCTCA	0.602000													31	230					0	0	0.000409698	0	0
AHNAK	79026	broad.mit.edu	37	11	62297572	62297572	+	Missense_Mutation	SNP	G	G	T	rs141288622	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:62297572G>T	ENST00000378024.4	-	5	4591	c.4317C>A	c.(4315-4317)ttC>ttA	p.F1439L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1439					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGCATCTTGAATTTGGGAC	0.403000													14	1018					0.000151284	0.00252221	0.000151284	1	0
FLNB	2317	broad.mit.edu	37	3	58108948	58108948	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:58108948C>A	ENST00000357272.4	+	21	3420	c.3255C>A	c.(3253-3255)atC>atA	p.I1085I	FLNB_ENST00000348383.5_Silent_p.I1085I|FLNB_ENST00000490882.1_Silent_p.I1085I|FLNB_ENST00000295956.4_Silent_p.I1085I|FLNB_ENST00000493452.1_Silent_p.I916I|FLNB_ENST00000419752.2_Silent_p.I916I|FLNB_ENST00000358537.3_Silent_p.I1085I|FLNB_ENST00000429972.2_Silent_p.I1085I			O75369	FLNB_HUMAN	filamin B, beta	1085					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGGCCAAAATCGAGTGCTCCG	0.552000													9	545					0.000442599	0.00556767	0.000442599	1	0
ADAMTS1	9510	broad.mit.edu	37	21	28212612	28212612	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:28212612C>A	ENST00000284984.2	-	5	2102	c.1648G>T	c.(1648-1650)Gac>Tac	p.D550Y		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	550	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TGCTTTCTGTCGGTTTTGTTC	0.433000													7	479					0.000442599	0.00556767	0.000442599	1	0
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs121912651		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ATGGGCCTCCGGTTCATGCCG	0.577000	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			38	187					0	0	0.000589545	0	0
RNF19A	25897	broad.mit.edu	37	8	101276930	101276930	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:101276930G>T	ENST00000519449.1	-	7	1591	c.1275C>A	c.(1273-1275)atC>atA	p.I425I	RNF19A_ENST00000341084.2_Silent_p.I425I|RNF19A_ENST00000523255.1_5'UTR	NM_015435.3	NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	425					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			CTGGAGACACGATTACAGACA	0.363000													10	546					0.000673444	0.00785517	0.000673444	1	0
SYT16	83851	broad.mit.edu	37	14	62551020	62551020	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:62551020C>A	ENST00000430451.2	+	5	1738	c.1541C>A	c.(1540-1542)tCg>tAg	p.S514*		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	514	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTGGGGCTCTCGTACAATGCC	0.547000													8	446					3.09899e-07	9.98704e-06	0.000274275	1	0
MEF2C	4208	broad.mit.edu	37	5	88119587	88119587	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:88119587G>T	ENST00000504921.2	-	2	691	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	MEF2C_ENST00000539796.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000340208.5_Missense_Mutation_p.Q7K|MEF2C_ENST00000508569.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000510942.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000437473.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000424173.2_Missense_Mutation_p.Q7K|MEF2C_ENST00000506554.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514028.1_Missense_Mutation_p.Q7K|MEF2C_ENST00000514015.1_Missense_Mutation_p.Q7K			Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	7	Lys-rich (basic).|MADS-box.				apoptosis|B cell proliferation|innate immune response|learning or memory|muscle cell differentiation|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|neuron development|positive regulation of muscle cell differentiation|positive regulation of survival gene product expression|positive regulation of transcription from RNA polymerase II promoter|regulation of germinal center formation|regulation of megakaryocyte differentiation|regulation of synaptic activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nuclear speck	activating transcription factor binding|protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.Q7E(3)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CTCGTAATCTGAATCTTTTTT	0.343000										HNSCC(66;0.2)			22	1138					0.00074312	0.00863566	0.00074312	1	0
C14orf37	145407	broad.mit.edu	37	14	58605921	58605921	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58605921G>T	ENST00000267485.7	-	2	350	c.156C>A	c.(154-156)acC>acA	p.T52T	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	52						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CTAGGTCATCGGTGTTCATCT	0.478000													9	963					2.17888e-05	0.00047966	0.000442599	1	0
HERC2	8924	broad.mit.edu	37	15	28478313	28478313	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28478313G>T	ENST00000261609.7	-	30	4762	c.4654C>A	c.(4654-4656)Cga>Aga	p.R1552R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1552					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCGTTCTCGAATTATCTTT	0.383000													14	636					3.45872e-05	0.000740545	0.000422831	1	0
NEB	4703	broad.mit.edu	37	2	152420173	152420173	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152420173C>A	ENST00000427231.2	-	119	18842	c.18640G>T	c.(18640-18642)Ggt>Tgt	p.G6214C	NEB_ENST00000397345.3_Missense_Mutation_p.G6214C|NEB_ENST00000603639.1_Missense_Mutation_p.G6214C|NEB_ENST00000172853.10_Missense_Mutation_p.G4513C|NEB_ENST00000604864.1_Missense_Mutation_p.G6214C|NEB_ENST00000409198.1_Missense_Mutation_p.G4513C	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	6196					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGGAATTCACCGATCACTTTT	0.438000													11	1023					0.000673444	0.00785517	0.000673444	1	0
YEATS2	55689	broad.mit.edu	37	3	183479340	183479340	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:183479340G>T	ENST00000305135.5	+	14	1897	c.1702G>T	c.(1702-1704)Ggg>Tgg	p.G568W		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	568					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.G568W(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTGCCCAATTGGGAGTCACCC	0.408000													9	756					6.40141e-05	0.00117365	6.40141e-05	1	0
HSPB11	51668	broad.mit.edu	37	1	54395724	54395724	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:54395724G>T	ENST00000194214.5	-	3	582	c.193C>A	c.(193-195)Caa>Aaa	p.Q65K	HSPB11_ENST00000371376.1_Missense_Mutation_p.Q65K|HSPB11_ENST00000371377.3_Missense_Mutation_p.Q65K|HSPB11_ENST00000371378.2_Missense_Mutation_p.Q65K	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	65					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						AAGTAACTTTGGATTACAAGC	0.318000													9	373					1.58986e-06	4.62318e-05	0.000673444	1	0
FAT4	79633	broad.mit.edu	37	4	126337730	126337730	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:126337730G>T	ENST00000394329.3	+	6	6984	c.6971G>T	c.(6970-6972)cGg>cTg	p.R2324L	FAT4_ENST00000335110.5_Missense_Mutation_p.R622L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2324	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R2324Q(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGTCTGGATCGGGAAACAAAA	0.418000													9	631					0.000219431	0.00342116	0.000219431	1	0
KIF2C	11004	broad.mit.edu	37	1	45219408	45219408	+	Missense_Mutation	SNP	G	G	T	rs150604746		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:45219408G>T	ENST00000372217.1	+	6	755	c.404G>T	c.(403-405)cGg>cTg	p.R135L	KIF2C_ENST00000372218.4_Missense_Mutation_p.R148L|KIF2C_ENST00000372222.3_Missense_Mutation_p.R76L|KIF2C_ENST00000372224.4_Missense_Mutation_p.R189L|KIF2C_ENST00000493027.1_3'UTR			Q99661	KIF2C_HUMAN	kinesin family member 2C	189	Globular (Potential).				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTCATAGTTCGGAGGAAATCA	0.398000													7	225					1.12685e-05	0.000275198	0.000274275	1	0
IFIT1	3434	broad.mit.edu	37	10	91162663	91162663	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:91162663C>A	ENST00000546318.1	+	2	1825	c.538C>A	c.(538-540)Cgc>Agc	p.R180S	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.R211S	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	211					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						GCAGGCTGTCCGCTTAAATCC	0.458000													11	1340					0.000274275	0.0039602	0.000274275	1	0
SEC22B	9554	broad.mit.edu	37	1	145109678	145109678	+	RNA	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:145109678G>T	ENST00000453618.1	+	0	667							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TTCCTTTATTGAATTTGGTAA	0.383000													20	2414					0.000151284	0.00252221	0.000151284	1	0
MUC7	4589	broad.mit.edu	37	4	71347033	71347033	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:71347033C>T	ENST00000413702.1	+	4	860	c.572C>T	c.(571-573)gCc>gTc	p.A191V	MUC7_ENST00000304887.5_Missense_Mutation_p.A191V|MUC7_ENST00000456088.1_Missense_Mutation_p.A191V	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	191	Thr-rich.					extracellular region	protein binding	p.A191V(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCACAGCTGCCCCACCCACA	0.587000													6	475					0	0	8.12818e-05	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30881820	30881820	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:30881820C>A	ENST00000251071.5	-	8	2294	c.1544G>T	c.(1543-1545)tGg>tTg	p.W515L	CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W515L|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W182L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W515L|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W515L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	515					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGAAGGTGTCCAAGACTTTGG	0.473000													8	544					0.000442599	0.00556767	0.000442599	1	0
POTEH	23784	broad.mit.edu	37	22	16279236	16279236	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:16279236G>T	ENST00000343518.6	-	4	1038	c.987C>A	c.(985-987)atC>atA	p.I329I		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CTTTTTTCTTGATTAAAAATT	0.333000													29	2649					0.000566183	0.00706542	0.000566183	1	0
HTR1A	3350	broad.mit.edu	37	5	63257013	63257013	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:63257013C>A	ENST00000323865.3	-	1	767	c.534G>T	c.(532-534)ccG>ccT	p.P178P	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	178					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCGGTCTTCCGGGGTGCGCC	0.597000													8	805					0.000442599	0.00556767	0.000442599	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43825211	43825211	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:43825211G>T	ENST00000389420.3	-	22	3184	c.3185C>A	c.(3184-3186)tCa>tAa	p.S1062*	ADAMTS20_ENST00000553158.1_Nonsense_Mutation_p.S1062*|ADAMTS20_ENST00000395541.2_Nonsense_Mutation_p.S216*	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1062	TSP type-1 5.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTGGTACTTGAATTACAGAA	0.433000													9	493					0.000442599	0.00556767	0.000442599	1	0
MVB12B	89853	broad.mit.edu	37	9	129154438	129154438	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:129154438G>A	ENST00000361171.3	+	5	584	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	MVB12B_ENST00000535766.1_Missense_Mutation_p.R161Q|MVB12B_ENST00000545391.1_Missense_Mutation_p.R168Q|MVB12B_ENST00000436593.3_Missense_Mutation_p.R153Q	NM_033446.2	NP_258257.1			multivesicular body subunit 12B																		ATCATGGGCCGGACCAAGCAG	0.512000													6	576					0	0	8.12818e-05	0	0
PHF20L1	51105	broad.mit.edu	37	8	133790126	133790126	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:133790126C>A	ENST00000395386.2	+	2	351	c.52C>A	c.(52-54)Cgt>Agt	p.R18S	PHF20L1_ENST00000337920.4_Missense_Mutation_p.R18S|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395382.3_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R18S|PHF20L1_ENST00000395379.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395383.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000395376.1_Missense_Mutation_p.R18S|PHF20L1_ENST00000315808.10_Missense_Mutation_p.R18S	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	18	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GATTGGTGCTCGTTTGGAGGC	0.363000													8	529					1.76689e-08	6.24103e-07	0.000442599	1	0
TBC1D8B	54885	broad.mit.edu	37	X	106092492	106092492	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:106092492C>T	ENST00000310452.2	+	12	2020	c.1855C>T	c.(1855-1857)Cca>Tca	p.P619S	TBC1D8B_ENST00000357242.5_Intron|TBC1D8B_ENST00000276175.3_Intron	NM_198881.1	NP_942582.1	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	0	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGATTTTATGCCACTAGTAAG	0.328000													5	330					0	0	0.000274275	0	0
PMM2	5373	broad.mit.edu	37	16	8900255	8900255	+	Missense_Mutation	SNP	C	C	A	rs80338700		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:8900255C>A	ENST00000268261.4	+	4	404	c.338C>A	c.(337-339)cCg>cAg	p.P113Q	PMM2_ENST00000569958.1_Intron|PMM2_ENST00000539622.1_Missense_Mutation_p.P30Q|PMM2_ENST00000537352.1_Intron|PMM2_ENST00000566983.1_Missense_Mutation_p.P86Q	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	113			P -> L (in CDG1A).		dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	phosphomannomutase activity			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						ATTAAACTCCCGAAGAAGAGG	0.403000													11	391					3.86212e-05	0.000778902	0.000673444	1	0
UTP14C	9724	broad.mit.edu	37	13	52603100	52603100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:52603100G>T	ENST00000521776.2	+	2	893	c.160G>T	c.(160-162)Gga>Tga	p.G54*	ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	54					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		TTCCCTTGATGGAAAGAATAG	0.458000													12	874					0.000422831	0.00556767	0.000422831	1	0
SDR42E1	93517	broad.mit.edu	37	16	82033377	82033377	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:82033377C>T	ENST00000328945.5	-	3	648	c.521G>A	c.(520-522)gGc>gAc	p.G174D	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	174					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						GACACCGTCGCCTCTGTCCAG	0.557000													30	514					0	0	0.000227799	0	0
PHKA2	5256	broad.mit.edu	37	X	18911697	18911697	+	Missense_Mutation	SNP	G	G	T	rs137852288		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:18911697G>T	ENST00000379942.4	-	33	4279	c.3614C>A	c.(3613-3615)cCg>cAg	p.P1205Q	PHKA2-AS1_ENST00000439295.1_RNA|PHKA2-AS1_ENST00000452900.1_RNA|PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1205			P -> L (in GSD9A; type 1).		glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGCCCCACTCGGAGCGCTGTC	0.527000													11	919					0.00010058	0.00173709	0.00010058	1	0
RP11-156P1.3	0	broad.mit.edu	37	17	45127368	45127368	+	RNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:45127368C>A	ENST00000575173.1	-	0	418																											AAAAAGAGTCCAAAGTTCAGA	0.453000													15	1957					0.000274275	0.0039602	0.000274275	1	0
SPATA6	54558	broad.mit.edu	37	1	48865184	48865184	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:48865184C>A	ENST00000371847.3	-	7	783	c.619G>T	c.(619-621)Gaa>Taa	p.E207*	SPATA6_ENST00000463938.1_5'UTR|SPATA6_ENST00000371843.3_Nonsense_Mutation_p.E207*|SPATA6_ENST00000396199.3_Nonsense_Mutation_p.E135*	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	207					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region		p.E207*(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGGCTGTTCGTAGTTTTTT	0.408000													19	772					0.000229342	0.00356678	0.000229342	1	0
ATP7A	538	broad.mit.edu	37	X	77298876	77298876	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:77298876G>T	ENST00000341514.6	+	21	4222	c.4067G>T	c.(4066-4068)cGg>cTg	p.R1356L	ATP7A_ENST00000343533.5_Missense_Mutation_p.R1278L|ATP7A_ENST00000350425.4_Missense_Mutation_p.R359L	NM_000052.5	NP_000043.3	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1356					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAGAGGATTCGGATAAATTTT	0.343000													11	841					6.40141e-05	0.00117365	6.40141e-05	1	0
SUN1	23353	broad.mit.edu	37	7	888057	888057	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:888057G>T	ENST00000456758.2	+	9	835	c.835G>T	c.(835-837)Ggt>Tgt	p.G279C	SUN1_ENST00000401592.1_Intron|SUN1_ENST00000389574.3_Intron|SUN1_ENST00000452783.2_Intron|SUN1_ENST00000425407.2_Intron|SUN1_ENST00000405266.1_Intron			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0	EMD-binding.|SYNE2-binding.				cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTAATAGGCGGTGCGTCTTT	0.358000													10	736					0.000219431	0.00342116	0.000219431	1	0
ACADSB	36	broad.mit.edu	37	10	124797320	124797320	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:124797320C>A	ENST00000358776.4	+	3	274	c.260C>A	c.(259-261)tCg>tAg	p.S87*	ACADSB_ENST00000368869.4_Intron|ACADSB_ENST00000496730.2_3'UTR	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	87					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding	p.S87L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	GATGAAAATTCGAAAATGGAG	0.313000													10	682					0.000219431	0.00342116	0.000219431	1	0
FLVCR1	28982	broad.mit.edu	37	1	213061865	213061865	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:213061865G>T	ENST00000366971.4	+	7	1540	c.1342G>T	c.(1342-1344)Gaa>Taa	p.E448*	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	448					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTTGGGTTTTGAATTTGCTGT	0.383000													9	462					2.27111e-07	7.55265e-06	0.00010058	1	0
KLHL5	51088	broad.mit.edu	37	4	39064285	39064285	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:39064285C>A	ENST00000261425.3	+	2	165	c.13C>A	c.(13-15)Cgt>Agt	p.R5S	KLHL5_ENST00000504108.1_Missense_Mutation_p.R51S|KLHL5_ENST00000359687.2_Missense_Mutation_p.R51S|KLHL5_ENST00000508137.2_Intron|KLHL5_ENST00000381930.3_Missense_Mutation_p.R51S|KLHL5_ENST00000261426.5_Missense_Mutation_p.R51S	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	51						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GTCTGGTTCTCGTAAAGAGTT	0.433000													10	713					6.40141e-05	0.00117365	6.40141e-05	1	0
TUBB8P7	0	broad.mit.edu	37	16	90162462	90162462	+	RNA	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:90162462A>G	ENST00000567960.1	+	0	1198				TUBB8P7_ENST00000564451.1_RNA														p.T398T(1)									ACTGGTACACAGGCGAGGGCA	0.522000													8	420					0	0	0.000274275	0	0
EPHA1	2041	broad.mit.edu	37	7	143092480	143092480	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143092480C>A	ENST00000275815.3	-	12	2101	c.2015G>T	c.(2014-2016)cGa>cTa	p.R672L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	672	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGTTGCCTCTCGAAGGAAGTT	0.567000											OREG0018405	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	1017					0.000442599	0.00556767	0.000442599	1	0
MRPS7	51081	broad.mit.edu	37	17	73259586	73259586	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:73259586C>A	ENST00000579761.1	+	4	732	c.505C>A	c.(505-507)Cag>Aag	p.Q169K	MRPS7_ENST00000245539.6_Missense_Mutation_p.Q169K|MRPS7_ENST00000579002.1_Missense_Mutation_p.Q198K			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	169					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCGTTTCTACCAGGTGAATGA	0.507000													10	910					3.86212e-05	0.000778902	0.000673444	1	0
MYO9A	4649	broad.mit.edu	37	15	72191285	72191285	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:72191285G>T	ENST00000356056.5	-	25	4031	c.3559C>A	c.(3559-3561)Cag>Aag	p.Q1187K	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.Q1168K|MYO9A_ENST00000566885.1_Missense_Mutation_p.Q807K|MYO9A_ENST00000424560.1_Missense_Mutation_p.Q1187K|MYO9A_ENST00000564571.1_Missense_Mutation_p.Q1187K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1187	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCTGAACCCTGAATTTCCAGA	0.358000													12	1107					0.000274275	0.0039602	0.000274275	1	0
CYP20A1	57404	broad.mit.edu	37	2	204137450	204137450	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204137450C>A	ENST00000356079.4	+	6	781	c.658C>A	c.(658-660)Cgg>Agg	p.R220R	CYP20A1_ENST00000429815.2_Silent_p.R228R|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	220						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						AAACATGACTCGGAAAAAACA	0.313000													6	247					0.000274275	0.0039602	0.000274275	1	0
CA1	759	broad.mit.edu	37	8	86250487	86250487	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:86250487G>T	ENST00000523953.1	-	4	1275	c.229C>A	c.(229-231)Cga>Aga	p.R77R	CA1_ENST00000518341.1_5'UTR|CA1_ENST00000431316.1_Silent_p.R77R|CA1_ENST00000542576.1_Silent_p.R77R|CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Silent_p.R77R|CA1_ENST00000523022.1_Silent_p.R77R|CA1_ENST00000256119.5_Silent_p.R77R			P00915	CAH1_HUMAN	carbonic anhydrase I	77					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	TCACCTGATCGGTTATCGTTG	0.393000													11	604					5.50884e-06	0.000142319	0.00010058	1	0
BMS1	9790	broad.mit.edu	37	10	43318597	43318597	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:43318597A>G	ENST00000374518.4	+	20	3227	c.3164A>G	c.(3163-3165)aAa>aGa	p.K1055R		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1055					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GAAGTGGCCAAATTTGAAGGT	0.428000													5	376					0	0	0.000602214	0	0
DNAH7	56171	broad.mit.edu	37	2	196825552	196825552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:196825552C>A	ENST00000312428.6	-	18	2423	c.2323G>T	c.(2323-2325)Gaa>Taa	p.E775*		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	775	Stem (By similarity).				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						CTGCTAAATTCGACAGCAGTT	0.393000													12	667					7.93312e-07	2.45534e-05	0.000219431	1	0
RTTN	25914	broad.mit.edu	37	18	67742608	67742608	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:67742608G>T	ENST00000255674.6	-	33	4830	c.4544C>A	c.(4543-4545)tCa>tAa	p.S1515*	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Nonsense_Mutation_p.S1515*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1515							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ATTGCTTTCTGAATTTCTATC	0.254000													13	631					0.000308642	0.00435582	0.000308642	1	0
EPHA5	2044	broad.mit.edu	37	4	66509135	66509135	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:66509135C>A	ENST00000273854.3	-	2	792	c.192G>T	c.(190-192)ttG>ttT	p.L64F	EPHA5_ENST00000511294.1_Missense_Mutation_p.L64F|EPHA5_ENST00000354839.4_Missense_Mutation_p.L64F|EPHA5_ENST00000432638.2_Missense_Mutation_p.L64F	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	64					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGCGTGAATCCAATAAATTCA	0.308000										TSP Lung(17;0.13)			8	318					3.09899e-07	9.98704e-06	0.000274275	1	0
CAPS2	84698	broad.mit.edu	37	12	75678746	75678746	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:75678746G>T	ENST00000393284.3	-	15	1472	c.871C>A	c.(871-873)Cga>Aga	p.R291R	CAPS2_ENST00000442339.2_Silent_p.R113R|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Silent_p.R441R|CAPS2_ENST00000409445.3_Silent_p.R523R|RP11-560G2.1_ENST00000549953.1_RNA			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	523							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						GTTACCTTTCGAACATATGAT	0.274000													10	409					0.000442599	0.00556767	0.000442599	1	0
TRBV10-1	0	broad.mit.edu	37	7	142231714	142231714	+	RNA	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142231714G>T	ENST00000390364.3	-	0	270																											AACACCATATGAGTAATGGAT	0.512000													9	685					6.40141e-05	0.00117365	6.40141e-05	1	0
MPZL2	10205	broad.mit.edu	37	11	118130817	118130817	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:118130817C>A	ENST00000278937.2	-	4	664	c.536G>T	c.(535-537)cGg>cTg	p.R179L	MPZL2_ENST00000438295.2_Missense_Mutation_p.R179L	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	179					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCGCTTTTTCCGGTAATGCTG	0.483000													9	1246					0.000673444	0.00785517	0.000673444	1	0
CADPS	8618	broad.mit.edu	37	3	62556597	62556597	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:62556597C>A	ENST00000383710.4	-	9	1943	c.1594G>T	c.(1594-1596)Ggt>Tgt	p.G532C	CADPS_ENST00000357948.3_Missense_Mutation_p.G532C|CADPS_ENST00000283269.9_Missense_Mutation_p.G532C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	532	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACATTCTTACCGATGGCCCAT	0.398000													9	691					2.80697e-09	1.03231e-07	6.40141e-05	1	0
LYSMD3	116068	broad.mit.edu	37	5	89815139	89815139	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:89815139C>A	ENST00000315948.6	-	3	562	c.418G>T	c.(418-420)Gaa>Taa	p.E140*	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000509384.1_Missense_Mutation_p.R120L	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	140					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		TCCTGTTGTTCGGAAGAGTAT	0.373000													14	486					0.000308642	0.00435582	0.000308642	1	0
TMEM38A	79041	broad.mit.edu	37	19	16799034	16799034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:16799034C>A	ENST00000187762.2	+	6	843	c.752C>A	c.(751-753)tCg>tAg	p.S251*		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	251						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTGTTTGGTTCGGCCTGCGGG	0.642000													13	961					0.000422831	0.00556767	0.000422831	1	0
RAPGEF2	9693	broad.mit.edu	37	4	160251634	160251634	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:160251634C>A	ENST00000264431.4	+	7	1387	c.968C>A	c.(967-969)cCg>cAg	p.P323Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	323	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTTAATGACCCGAGCCTCAGG	0.343000													11	537					1.49906e-05	0.000353665	0.000219431	1	0
RPGRIP1L	23322	broad.mit.edu	37	16	53730088	53730088	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:53730088G>T	ENST00000262135.4	-	3	298	c.205C>A	c.(205-207)Cgc>Agc	p.R69S	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000568653.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.R69S|RPGRIP1L_ENST00000566096.1_Missense_Mutation_p.R69S	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	69					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding	p.R69C(1)		endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				TCCTGCTTGCGGGCATGCTGT	0.368000													12	871					0.00010058	0.00173709	0.00010058	1	0
ZNF878	729747	broad.mit.edu	37	19	12155673	12155673	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12155673A>C	ENST00000602107.1	-	5	683	c.684T>G	c.(682-684)agT>agG	p.S228R	ZNF878_ENST00000547628.1_Missense_Mutation_p.S181R|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						AACTGGGAAAACTGAATGCTT	0.403000													8	1006					0	0	0.000442599	0	0
ACSL6	23305	broad.mit.edu	37	5	131323807	131323807	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:131323807G>T	ENST00000379264.2	-	7	873	c.765C>A	c.(763-765)ttC>ttA	p.F255L	ACSL6_ENST00000379272.2_Missense_Mutation_p.F245L|ACSL6_ENST00000431707.1_Missense_Mutation_p.F210L|ACSL6_ENST00000379255.1_Missense_Mutation_p.F195L|ACSL6_ENST00000379240.1_Missense_Mutation_p.F230L|ACSL6_ENST00000357096.1_Missense_Mutation_p.F195L|ACSL6_ENST00000543479.1_Missense_Mutation_p.F230L|ACSL6_ENST00000379246.1_Missense_Mutation_p.F241L|ACSL6_ENST00000296869.4_Missense_Mutation_p.F255L|ACSL6_ENST00000379249.3_Missense_Mutation_p.F230L|ACSL6_ENST00000379244.1_Missense_Mutation_p.F230L|ACSL6_ENST00000544770.1_Missense_Mutation_p.F139L	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	230					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCTTCTTCGAATGGGTCCA	0.562000													13	877					0.000308642	0.00435582	0.000308642	1	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													5	170					0	0	0.000602214	0	0
MKI67IP	0	broad.mit.edu	37	2	122488581	122488581	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:122488581C>A	ENST00000285814.4	-	4	524	c.452G>T	c.(451-453)cGg>cTg	p.R151L		NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		151					protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.R151L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						TGTCCGATTCCGATTATACCG	0.353000													10	578					2.17888e-05	0.00047966	0.000442599	1	0
TTN	7273	broad.mit.edu	37	2	179480172	179480172	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:179480172C>A	ENST00000589042.1	-	259	48724	c.48500G>T	c.(48499-48501)cGa>cTa	p.R16167L	TTN_ENST00000460472.2_Missense_Mutation_p.R7102L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13599L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7294L|TTN_ENST00000591111.1_Missense_Mutation_p.R14526L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7227L|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14526	Fibronectin type-III 17.						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)			ATTGGCTGTTCGATCTCTCCA	0.433000													15	900					0.000422831	0.00556767	0.000422831	1	0
MRPL35	51318	broad.mit.edu	37	2	86433238	86433238	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:86433238G>T	ENST00000337109.4	+	2	87	c.53G>T	c.(52-54)cGg>cTg	p.R18L	MRPL35_ENST00000254644.8_Missense_Mutation_p.R18L|MRPL35_ENST00000409180.1_Missense_Mutation_p.R18L|MRPL35_ENST00000605125.1_Missense_Mutation_p.R18L	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	18					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						GGAATCCTACGGCCCCTGAAT	0.368000													8	701					0.000274275	0.0039602	0.000274275	1	0
ARHGAP15	55843	broad.mit.edu	37	2	144314047	144314047	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:144314047C>A	ENST00000295095.6	+	11	1163	c.996C>A	c.(994-996)gtC>gtA	p.V332V	RP11-570L15.2_ENST00000546678.1_RNA|RP11-570L15.1_ENST00000553076.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	332	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATTTATTGTCAACCAAGGTA	0.318000													15	807					3.99206e-14	1.5897e-12	9.7654e-05	1	0
MKLN1	4289	broad.mit.edu	37	7	131148090	131148090	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:131148090C>A	ENST00000352689.6	+	13	1680	c.1640C>A	c.(1639-1641)tCa>tAa	p.S547*	MKLN1_ENST00000421797.2_Nonsense_Mutation_p.S455*|MKLN1_ENST00000498778.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	547					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					GTTAGAAATTCATTCTGGATT	0.348000													11	587					6.40141e-05	0.00117365	6.40141e-05	1	0
CHPF2	54480	broad.mit.edu	37	7	150934530	150934530	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:150934530C>T	ENST00000035307.2	+	4	2595	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	CHPF2_ENST00000495645.1_Missense_Mutation_p.P353L	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	361						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTGGGCTCCCTGCTCCTTTC	0.617000													36	313					0	0	0.000228196	0	0
GABRG2	0	broad.mit.edu	37	5	161578743	161578743	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:161578743G>T	ENST00000356592.3	+	9	1596	c.1136G>T	c.(1135-1137)cGg>cTg	p.R379L	GABRG2_ENST00000393933.4_Intron|GABRG2_ENST00000414552.2_Missense_Mutation_p.R419L|GABRG2_ENST00000361925.4_Intron	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	376					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AAGCTTCTTCGGATGTTTTCC	0.279000													8	500					6.40141e-05	0.00117365	6.40141e-05	1	0
BTN1A1	696	broad.mit.edu	37	6	26501880	26501880	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:26501880C>T	ENST00000244513.6	+	2	208	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	48	Ig-like V-type 1.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGACGCCGAGCTGCCCTGTCG	0.647000													13	248					0	0	0.000151284	0	0
ACRC	93953	broad.mit.edu	37	X	70823900	70823900	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557000													11	627					0	0	0.000566183	0	0
MCM9	254394	broad.mit.edu	37	6	119238766	119238766	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:119238766G>T	ENST00000316316.6	-	5	1150	c.864C>A	c.(862-864)ttC>ttA	p.F288L	MCM9_ENST00000316068.3_Missense_Mutation_p.F288L	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	288					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		AAAAATCTTCGAATTCCTTTT	0.378000													11	660					0.000151284	0.00252221	0.000151284	1	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													8	379					0	0	0.000274275	0	0
SLC16A7	9194	broad.mit.edu	37	12	60169011	60169011	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:60169011G>T	ENST00000261187.4	+	4	1099	c.935G>T	c.(934-936)cGa>cTa	p.R312L	SLC16A7_ENST00000547379.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000552024.1_Missense_Mutation_p.R312L|SLC16A7_ENST00000543448.1_Missense_Mutation_p.R213L|SLC16A7_ENST00000552432.1_Missense_Mutation_p.R312L	NM_001270622.1|NM_001270623.1|NM_004731.3	NP_001257551.1|NP_001257552.1|NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7	312						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity	p.R312Q(1)|p.R312L(1)		endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	ATTCGACCTCGAATTCAGTAC	0.423000													10	675					0.000673444	0.00785517	0.000673444	1	0
ZNF443	10224	broad.mit.edu	37	19	12542283	12542283	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12542283A>G	ENST00000301547.5	-	4	900	c.703T>C	c.(703-705)Tct>Cct	p.S235P	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	235					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGTAAAAAGAAAAGGCTTTA	0.378000													7	1089					0	0	0.000442599	0	0
IGF1R	3480	broad.mit.edu	37	15	99454613	99454613	+	Missense_Mutation	SNP	G	G	T	rs33958176	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:99454613G>T	ENST00000268035.6	+	7	2143	c.1532G>T	c.(1531-1533)cGg>cTg	p.R511L	IGF1R_ENST00000558762.1_Missense_Mutation_p.R511L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	511	Fibronectin type-III 1.		R -> Q (in dbSNP:rs33958176).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	ACCTGGCACCGGTACCGGCCC	0.527000													6	286					0.000157383	0.00254253	0.000157383	1	0
GJA1	2697	broad.mit.edu	37	6	121768514	121768514	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:121768514G>T	ENST00000282561.3	+	2	678	c.521G>T	c.(520-522)tGg>tTg	p.W174L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	174					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	CTGATCCAGTGGTACATCTAT	0.498000													8	418					0.000442599	0.00556767	0.000442599	1	0
SEC16B	89866	broad.mit.edu	37	1	177913756	177913756	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:177913756C>A	ENST00000308284.6	-	15	1910	c.1821G>T	c.(1819-1821)acG>acT	p.T607T	RP4-798P15.3_ENST00000528461.1_3'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	607					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.T608T(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGAAGATTTCCGTCCTCTGGA	0.483000													9	533					3.07112e-06	8.57171e-05	6.40141e-05	1	0
GPX1	2876	broad.mit.edu	37	3	49395586	49395586	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:49395586G>T	ENST00000419783.1	-	1	447	c.126C>A	c.(124-126)atC>atA	p.I42I	GPX1_ENST00000419349.1_Silent_p.I42I|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	42					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CCACATTCTCGATAAGTAGTA	0.711000													4	59					2.0095e-06	5.78958e-05	8.12818e-05	1	0
DOCK3	1795	broad.mit.edu	37	3	51393896	51393896	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:51393896G>T	ENST00000266037.9	+	43	4498	c.4475G>T	c.(4474-4476)cGg>cTg	p.R1492L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1492	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GGCATCTCTCGGTGGTTTGAA	0.557000													7	476					0.000442599	0.00556767	0.000442599	1	0
IDH3G	3421	broad.mit.edu	37	X	153053545	153053545	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:153053545C>A	ENST00000370092.3	-	6	577	c.392G>T	c.(391-393)cGa>cTa	p.R131L	IDH3G_ENST00000217901.5_Missense_Mutation_p.R131L|IDH3G_ENST00000370093.1_Missense_Mutation_p.R131L|IDH3G_ENST00000427365.2_Missense_Mutation_p.R73L|IDH3G_ENST00000497043.1_5'UTR	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	131					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding	p.R131Q(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GATGTTGTTTCGAGATTTGTG	0.592000													12	1366					1.12685e-05	0.000275198	0.000274275	1	0
FOXP3	50943	broad.mit.edu	37	X	49113997	49113997	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:49113997C>T	ENST00000376207.4	-	4	528	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	FOXP3_ENST00000455775.2_Missense_Mutation_p.R114Q|FOXP3_ENST00000518685.1_Missense_Mutation_p.R79Q|FOXP3_ENST00000376197.1_Missense_Mutation_p.R64Q|FOXP3_ENST00000376199.2_Missense_Mutation_p.R79Q|FOXP3_ENST00000557224.1_Missense_Mutation_p.R79Q	NM_014009.3	NP_054728.2	Q9BZS1	FOXP3_HUMAN	forkhead box P3	114					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					CACAGGGGTCCGGGCGTGGGC	0.682000													9	78					0	0	0.00010058	0	0
STAP1	26228	broad.mit.edu	37	4	68459057	68459057	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:68459057C>A	ENST00000265404.2	+	8	891	c.809C>A	c.(808-810)tCa>tAa	p.S270*	STAP1_ENST00000396225.1_Nonsense_Mutation_p.S270*	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	270	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TTTATATGTTCAACTGATGAA	0.333000													9	474					5.50884e-06	0.000142319	0.00010058	1	0
ANKRD36B	57730	broad.mit.edu	37	2	98177188	98177188	+	RNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:98177188C>A	ENST00000443455.1	-	0	915							Q8N2N9	AN36B_HUMAN	ankyrin repeat domain 36B																		GAATCTTTGTCGTCACTTGTA	0.323000													8	436					6.40141e-05	0.00117365	6.40141e-05	1	0
ZNF358	140467	broad.mit.edu	37	19	7584555	7584555	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:7584555G>T	ENST00000597229.1	+	2	597	c.427G>T	c.(427-429)Gcc>Tcc	p.A143S	ZNF358_ENST00000394341.2_Missense_Mutation_p.A143S	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	143					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGTGCTccccgcccccgccag	0.741000													4	125					2.56e-06	7.3418e-05	0.00024832	1	0
AKAP13	11214	broad.mit.edu	37	15	86128981	86128981	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:86128981C>A	ENST00000394518.2	+	8	4183	c.4088C>A	c.(4087-4089)tCa>tAa	p.S1363*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.S1363*	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1363					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAGCAAGTTCAATTTCTGAA	0.448000													9	380					0.000442599	0.00556767	0.000442599	1	0
USP53	54532	broad.mit.edu	37	4	120214304	120214304	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:120214304C>A	ENST00000450251.1	+	15	3704	c.3160C>A	c.(3160-3162)Cat>Aat	p.H1054N	USP53_ENST00000274030.6_Missense_Mutation_p.H1054N			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	1054					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATTGAAATACCATCAGAGGCC	0.363000													9	438					0.000274275	0.0039602	0.000274275	1	0
CEP152	22995	broad.mit.edu	37	15	49034207	49034207	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:49034207C>A	ENST00000380950.2	-	25	4113	c.3926G>T	c.(3925-3927)cGa>cTa	p.R1309L	CEP152_ENST00000399334.3_Missense_Mutation_p.R1253L|CEP152_ENST00000325747.5_Missense_Mutation_p.R1216L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1253					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		GCGCATCTTTCGGGCGGTTTC	0.433000													8	649					3.86212e-05	0.000778902	0.000673444	1	0
CDKAL1	54901	broad.mit.edu	37	6	20781448	20781448	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:20781448C>A	ENST00000274695.4	+	8	757	c.590C>A	c.(589-591)cCg>cAg	p.P197Q	RP3-348I23.2_ENST00000421167.1_RNA|CDKAL1_ENST00000378610.1_Missense_Mutation_p.P197Q|CDKAL1_ENST00000378624.4_Missense_Mutation_p.P127Q	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	197					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			TTGGATTTGCCGAAGATTAGG	0.388000													7	389					0.000274275	0.0039602	0.000274275	1	0
FANCM	57697	broad.mit.edu	37	14	45605717	45605717	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:45605717G>A	ENST00000267430.5	+	1	568	c.483G>A	c.(481-483)ccG>ccA	p.P161P	FANCM_ENST00000542564.2_Silent_p.P161P|FANCM_ENST00000556036.1_Silent_p.P161P	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	161	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGGGTATCCCGCAATCCCACA	0.502000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				6	287					0	0	0.000157383	0	0
PRKCA	5578	broad.mit.edu	37	17	64728884	64728884	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:64728884C>A	ENST00000413366.3	+	9	1023	c.997C>A	c.(997-999)Cga>Aga	p.R333R		NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	protein kinase C, alpha	333					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAACCTTGACCGAGTGAAACT	0.478000													10	719					0.000442599	0.00556767	0.000442599	1	0
ACE2	59272	broad.mit.edu	37	X	15610443	15610443	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:15610443C>A	ENST00000427411.1	-	4	564	c.348G>T	c.(346-348)ttG>ttT	p.L116F	ACE2_ENST00000252519.3_Missense_Mutation_p.L116F	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	116					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GAATTGTGTTCAACTGCAAAT	0.313000													10	713					2.27111e-07	7.55265e-06	0.00010058	1	0
PLA1A	51365	broad.mit.edu	37	3	119325737	119325737	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:119325737G>T	ENST00000273371.4	+	2	262	c.190G>T	c.(190-192)Ggg>Tgg	p.G64W	PLA1A_ENST00000494440.1_Missense_Mutation_p.G48W|PLA1A_ENST00000495992.1_Missense_Mutation_p.G64W|PLA1A_ENST00000488919.1_Intron	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	64					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCCTAGCTGTGGGCAGCTAGT	0.488000													9	634					2.17888e-05	0.00047966	0.000442599	1	0
ABCC4	10257	broad.mit.edu	37	13	95847155	95847155	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:95847155G>T	ENST00000376887.4	-	9	1312	c.1198C>A	c.(1198-1200)Cgt>Agt	p.R400S	ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R400S|ABCC4_ENST00000536256.1_Missense_Mutation_p.R325S|ABCC4_ENST00000431522.1_Missense_Mutation_p.R400S	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	400					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GGCAGCTGACGGTTGCGCTGT	0.378000													6	241					0.000274275	0.0039602	0.000274275	1	0
SUV420H1	51111	broad.mit.edu	37	11	67941364	67941364	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:67941364C>A	ENST00000304363.4	-	6	913	c.560G>T	c.(559-561)cGa>cTa	p.R187L	SUV420H1_ENST00000402185.2_Missense_Mutation_p.R164L|SUV420H1_ENST00000401547.2_Missense_Mutation_p.R187L|SUV420H1_ENST00000405515.1_Missense_Mutation_p.R187L|SUV420H1_ENST00000402789.1_Missense_Mutation_p.R187L	NM_017635.3	NP_060105.3	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAAACATTCGCAAATAAAT	0.318000													10	674					1.58986e-06	4.62318e-05	0.000673444	1	0
LEO1	123169	broad.mit.edu	37	15	52254651	52254651	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:52254651C>A	ENST00000299601.5	-	3	914	c.854G>T	c.(853-855)cGa>cTa	p.R285L	LEO1_ENST00000315141.5_Missense_Mutation_p.R285L	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	285	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GCGTTTCATTCGTAAAACTTC	0.353000													7	283					0.000442599	0.00556767	0.000442599	1	0
STARD3NL	0	broad.mit.edu	37	7	38247300	38247300	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:38247300C>A	ENST00000009041.7	+	2	452	c.195C>A	c.(193-195)ttC>ttA	p.F65L	STARD3NL_ENST00000396013.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000434197.1_Missense_Mutation_p.F65L|STARD3NL_ENST00000544203.1_Missense_Mutation_p.F58L	NM_032016.3	NP_114405.1	O95772	MENTO_HUMAN	STARD3 N-terminal like	65	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						ACCTCTTATTCGTAACATTAC	0.373000													8	331					0.000442599	0.00556767	0.000442599	1	0
GAB1	2549	broad.mit.edu	37	4	144378878	144378878	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:144378878G>T	ENST00000262995.4	+	7	2058	c.1631G>T	c.(1630-1632)cGa>cTa	p.R544L	GAB1_ENST00000505913.1_Intron|GAB1_ENST00000262994.4_Intron	NM_207123.2	NP_997006.1	Q13480	GAB1_HUMAN	GRB2-associated binding protein 1	526					cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	30	all_hematologic(180;0.158)					GGTTTAGAGCGAACTGATTCA	0.338000													8	341					0.000442599	0.00556767	0.000442599	1	0
CYTL1	54360	broad.mit.edu	37	4	5016889	5016889	+	Missense_Mutation	SNP	G	G	T	rs137887145	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:5016889G>T	ENST00000307746.4	-	4	426	c.400C>A	c.(400-402)Cgt>Agt	p.R134S		NM_018659.2	NP_061129.1	Q9NRR1	CYTL1_HUMAN	cytokine-like 1	134					signal transduction	extracellular space|soluble fraction	receptor binding			breast(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		TAGCGCTGACGATCTGGCAGG	0.488000													9	446					0.000673444	0.00785517	0.000673444	1	0
RRN3P1	0	broad.mit.edu	37	16	21809097	21809097	+	RNA	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:21809097C>A	ENST00000546471.1	-	0	2098																											AAAAGTTAACCACTGAGGGCA	0.338000													9	508					6.40141e-05	0.00117365	6.40141e-05	1	0
SH2D5	400745	broad.mit.edu	37	1	21050638	21050638	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21050638C>T	ENST00000375031.1	-	6	1109	c.485G>A	c.(484-486)cGc>cAc	p.R162H	SH2D5_ENST00000444387.2_Missense_Mutation_p.R246H|SH2D5_ENST00000460804.1_5'UTR	NM_001103160.1	NP_001096630.1	Q6ZV89	SH2D5_HUMAN	SH2 domain containing 5	162								p.R162H(1)		lung(4)|prostate(1)|upper_aerodigestive_tract(1)	6		Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGCCCCCGAGCGGATCACCTT	0.667000													36	215					0	0	0.000814825	0	0
TSSC2	0	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:3427765G>C	ENST00000529482.1	+	0	882																											CACACGTCCTGCAGTGGCCTG	0.602000													4	178					0	0	0.000602214	0	0
SLC7A2	6542	broad.mit.edu	37	8	17396408	17396408	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:17396408G>T	ENST00000470360.1	+	3	192	c.75G>T	c.(73-75)ccG>ccT	p.P25P	SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000004531.10_Silent_p.P25P|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000398090.3_Silent_p.P25P			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CTGCCCCACCGGTTTGCGACA	0.418000													8	684					0.00010058	0.00173709	0.00010058	1	0
NHS	4810	broad.mit.edu	37	X	17745520	17745520	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:17745520G>T	ENST00000380060.3	+	6	3569	c.3231G>T	c.(3229-3231)ttG>ttT	p.L1077F	NHS_ENST00000398097.3_Missense_Mutation_p.L921F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1077						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ATAATGTCTTGAACAAACCAT	0.413000													11	631					1.49906e-05	0.000353665	0.000219431	1	0
ZCCHC10	54819	broad.mit.edu	37	5	132362202	132362202	+	Missense_Mutation	SNP	C	C	T	rs143508297	byFrequency	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:132362202C>T	ENST00000324170.3	-	1	94	c.28G>A	c.(28-30)Gcc>Acc	p.A10T	ZCCHC10_ENST00000355372.2_Missense_Mutation_p.A10T|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000513848.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000513541.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509008.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000504170.1_Missense_Mutation_p.A10T|ZCCHC10_ENST00000509437.1_Missense_Mutation_p.A10T	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	10							nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTCTCCGGGCTATTAGCCGA	0.642000													21	178					0	0	0.00047179	0	0
RBM6	10180	broad.mit.edu	37	3	50091792	50091792	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:50091792C>A	ENST00000443081.1	+	8	2180	c.1261C>A	c.(1261-1263)Cga>Aga	p.R421R	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_5'UTR|RBM6_ENST00000422955.1_Silent_p.R31R|RBM6_ENST00000266022.4_Silent_p.R553R|RBM6_ENST00000442092.1_Silent_p.R31R			P78332	RBM6_HUMAN	RNA binding motif protein 6	553					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding	p.R553R(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TGGTGGGCACCGATCTTCCTG	0.378000													8	793					1.58986e-06	4.62318e-05	0.000673444	1	0
COL4A2	1284	broad.mit.edu	37	13	110960263	110960263	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:110960263C>A	ENST00000360467.5	+	2	319	c.13C>A	c.(13-15)Cag>Aag	p.Q5K		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	5					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			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)			GGGGAGAGACCAGCGCGCGGT	0.662000													30	218					6.50621e-10	2.48029e-08	0.000491102	1	0
GJA8	2703	broad.mit.edu	37	1	147381108	147381108	+	Silent	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:147381108C>T	ENST00000240986.4	+	2	1079	c.1026C>T	c.(1024-1026)gcC>gcT	p.A342A	GJA8_ENST00000369235.1_Silent_p.A342A	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	342					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					AGGAGGGAGCCGAACCCGAGG	0.652000													3	27					0	0	6.4e-05	0	0
ZNF208	7757	broad.mit.edu	37	19	22155223	22155223	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:22155223T>C	ENST00000397126.4	-	4	2761	c.2613A>G	c.(2611-2613)aaA>aaG	p.K871K	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208									p.K771K(2)|p.K871K(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTGAGGGCCATTTATAGGCTT	0.373000													6	470					0	0	8.12818e-05	0	0
DACH1	1602	broad.mit.edu	37	13	72204773	72204773	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:72204773G>T	ENST00000305425.4	-	3	1469	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	DACH1_ENST00000313174.7_Silent_p.I349I|DACH1_ENST00000359684.2_Silent_p.I349I|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	347	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CTTCTAATTTGATTTTTTTCA	0.408000													15	813					3.52763e-06	9.80211e-05	0.000566183	1	0
NRXN3	9369	broad.mit.edu	37	14	79434626	79434626	+	Missense_Mutation	SNP	C	C	T	rs140301017		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:79434626C>T	ENST00000554719.1	+	11	2451	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	NRXN3_ENST00000335750.5_Missense_Mutation_p.R654C	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	260					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTGAATGGACGCCTGCCAGA	0.522000													43	299					0	0	0.000781405	0	0
SHROOM2	357	broad.mit.edu	37	X	9864330	9864330	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:9864330T>C	ENST00000380913.3	+	4	2472	c.2382T>C	c.(2380-2382)ttT>ttC	p.F794F		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	794					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGGGCACGTTTGCTGACAGGT	0.557000													36	222					0	0	0.000191422	0	0
TCEB1	6921	broad.mit.edu	37	8	74858992	74858992	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:74858992G>T	ENST00000518127.1	-	4	304	c.212C>A	c.(211-213)tCg>tAg	p.S71*	TCEB1_ENST00000284811.8_Nonsense_Mutation_p.S71*|TCEB1_ENST00000520210.1_Nonsense_Mutation_p.S55*|TCEB1_ENST00000520242.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000519487.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000523815.1_Nonsense_Mutation_p.S71*|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000522337.1_Nonsense_Mutation_p.S71*	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			GCATACTTTCGATAGCACATG	0.398000													7	269					0.000274275	0.0039602	0.000274275	1	0
FLG	2312	broad.mit.edu	37	1	152277569	152277569	+	Missense_Mutation	SNP	C	C	A	rs144217264		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:152277569C>A	ENST00000368799.1	-	3	9828	c.9793G>T	c.(9793-9795)Ggg>Tgg	p.G3265W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3265	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGAGTGCCCGTGACCGGCT	0.582000									Ichthyosis				11	1429					0.000673444	0.00785517	0.000673444	1	0
USP14	9097	broad.mit.edu	37	18	204644	204644	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:204644C>A	ENST00000261601.6	+	13	1207	c.1116C>A	c.(1114-1116)tcC>tcA	p.S372S	USP14_ENST00000582707.1_Silent_p.S337S|USP14_ENST00000400266.3_Silent_p.S361S|USP14_ENST00000383589.2_Silent_p.S326S	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)	372					regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTTTCGATCCAAATTCAAGG	0.328000													10	545					0.00010058	0.00173709	0.00010058	1	0
CCT6P1	0	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													4	94					1.024e-07	3.53704e-06	0.000602214	1	0
ARID4A	5926	broad.mit.edu	37	14	58814545	58814545	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:58814545C>A	ENST00000355431.3	+	15	1726	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	ARID4A_ENST00000431317.2_Silent_p.I451I|ARID4A_ENST00000395168.3_Silent_p.I451I|ARID4A_ENST00000348476.3_Silent_p.I451I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	451					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGAAAATATCGATTCAAACA	0.313000													10	422					1.5842e-08	5.6922e-07	0.000151284	1	0
NCOA6	23054	broad.mit.edu	37	20	33329665	33329665	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:33329665C>A	ENST00000374796.2	-	12	6965	c.4395G>T	c.(4393-4395)tcG>tcT	p.S1465S	NCOA6_ENST00000359003.2_Silent_p.S1465S			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	1465					brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTTAGGATCCGAAGGCTGCC	0.443000													8	566					0.000673444	0.00785517	0.000673444	1	0
S100A7	6278	broad.mit.edu	37	1	153431438	153431438	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:153431438G>T	ENST00000368723.3	-	2	162	c.52C>A	c.(52-54)Cac>Aac	p.H18N	S100A7_ENST00000368722.1_Missense_Mutation_p.H18N	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	18	EF-hand 1.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTGTATTTGTGAAACATGTCG	0.438000													11	562					0.000422831	0.00556767	0.000422831	1	0
ANK3	288	broad.mit.edu	37	10	61824022	61824022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:61824022G>T	ENST00000280772.1	-	39	12535	c.12344C>A	c.(12343-12345)tCa>tAa	p.S4115*	ANK3_ENST00000373827.2_Nonsense_Mutation_p.S1496*|ANK3_ENST00000355288.2_Nonsense_Mutation_p.S636*|ANK3_ENST00000503366.1_Nonsense_Mutation_p.S1503*	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4115	Death.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCATCCACTGAAAAATTCAG	0.313000													9	398					0.000442599	0.00556767	0.000442599	1	0
FOLH1	2346	broad.mit.edu	37	11	49208253	49208253	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:49208253G>T	ENST00000340334.7	-	6	905	c.537C>A	c.(535-537)atC>atA	p.I179I	FOLH1_ENST00000356696.3_Silent_p.I194I|FOLH1_ENST00000256999.2_Silent_p.I194I|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000533034.1_Silent_p.I179I	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	194					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CAGAGCAATTGATTTTCATGT	0.363000													10	602					5.50884e-06	0.000142319	0.00010058	1	0
EDA2R	60401	broad.mit.edu	37	X	65819559	65819559	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:65819559C>T	ENST00000374719.3	-	6	717	c.661G>A	c.(661-663)Gac>Aac	p.D221N	EDA2R_ENST00000253392.5_Missense_Mutation_p.D242N|EDA2R_ENST00000451436.2_Missense_Mutation_p.D97N|EDA2R_ENST00000456230.2_Missense_Mutation_p.D221N|EDA2R_ENST00000450752.1_Missense_Mutation_p.D242N|EDA2R_ENST00000396050.1_Missense_Mutation_p.D221N	NM_021783.3	NP_068555.1	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	221					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						GAGCTGCAGTCGTCCTCGAGG	0.577000													13	99					0	0	0.00010058	0	0
SKIV2L2	23517	broad.mit.edu	37	5	54645456	54645456	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:54645456C>A	ENST00000230640.5	+	12	1550	c.1296C>A	c.(1294-1296)tcC>tcA	p.S432S	SKIV2L2_ENST00000545714.1_Silent_p.S331S	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	432	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATTGCTTATCCGATGAAGATA	0.313000													9	643					0.000442599	0.00556767	0.000442599	1	0
GRM4	2914	broad.mit.edu	37	6	34003600	34003600	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:34003600G>A	ENST00000374181.3	-	8	2456	c.2287C>T	c.(2287-2289)Ctc>Ttc	p.L763F	GRM4_ENST00000455714.2_Missense_Mutation_p.L623F|GRM4_ENST00000538487.1_Missense_Mutation_p.L763F|GRM4_ENST00000374177.3_Missense_Mutation_p.L647F|GRM4_ENST00000535756.1_Missense_Mutation_p.L630F|GRM4_ENST00000544773.1_Missense_Mutation_p.L594F|GRM4_ENST00000545715.1_Missense_Mutation_p.L455F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	763					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GTGACCATGAGCAGCATGCTG	0.602000													18	162					0	0	0.000132079	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71368410	71368410	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:71368410G>T	ENST00000244230.2	+	7	1709	c.1357G>T	c.(1357-1359)Gaa>Taa	p.E453*		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	453					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						GGATGCATATGAATATAAAAA	0.363000													11	883					1.5842e-08	5.6922e-07	0.000151284	1	0
TIMM21	29090	broad.mit.edu	37	18	71816100	71816100	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:71816100G>T	ENST00000580087.1	+	1	343	c.57G>T	c.(55-57)tcG>tcT	p.S19S	TIMM21_ENST00000169551.6_Silent_p.S19S			Q9BVV7	TI21L_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	19					protein transport|transmembrane transport	integral to membrane|mitochondrial membrane											ACAGGTCCTCGGCAAAGCGAT	0.458000													10	850					0.000673444	0.00785517	0.000673444	1	0
HFM1	164045	broad.mit.edu	37	1	91816409	91816409	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:91816409C>A	ENST00000370425.3	-	18	2190	c.2092G>T	c.(2092-2094)Gaa>Taa	p.E698*	HFM1_ENST00000370424.3_Nonsense_Mutation_p.E377*|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	698	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTAAATGTTCAATAAGATGT	0.308000													10	440					4.36969e-10	1.67603e-08	0.000151284	1	0
KIAA1432	57589	broad.mit.edu	37	9	5763327	5763327	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:5763327G>T	ENST00000414202.2	+	19	2491	c.2300G>T	c.(2299-2301)cGg>cTg	p.R767L	KIAA1432_ENST00000251879.6_Missense_Mutation_p.R767L|KIAA1432_ENST00000449720.2_Missense_Mutation_p.R651L|KIAA1432_ENST00000418622.3_Missense_Mutation_p.R688L|KIAA1432_ENST00000381532.2_Missense_Mutation_p.R688L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	767						integral to membrane		p.R688L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		TTGTCCCAGCGGATCATGCTG	0.517000													9	835					0.000274275	0.0039602	0.000274275	1	0
STAG2	10735	broad.mit.edu	37	X	123200044	123200044	+	Missense_Mutation	SNP	T	T	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:123200044T>G	ENST00000371160.1	+	22	2406	c.2116T>G	c.(2116-2118)Tgg>Ggg	p.W706G	STAG2_ENST00000371157.3_Missense_Mutation_p.W706G|STAG2_ENST00000354548.5_Missense_Mutation_p.W637G|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.W706G|STAG2_ENST00000371144.3_Missense_Mutation_p.W706G|STAG2_ENST00000371145.3_Missense_Mutation_p.W706G			Q8N3U4	STAG2_HUMAN	stromal antigen 2	706				W -> R (in Ref. 5; CAA99732).	cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CCTTTCAAAGTGGGATTTATT	0.289000													14	550					0	0	9.7654e-05	0	0
TRIM42	287015	broad.mit.edu	37	3	140401487	140401487	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:140401487G>A	ENST00000286349.3	+	2	716	c.525G>A	c.(523-525)aaG>aaA	p.K175K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	175						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGCTGCAGAAGCACGCCGAGG	0.607000													43	349					0	0	0.000437636	0	0
DCC	1630	broad.mit.edu	37	18	50961541	50961541	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:50961541C>A	ENST00000442544.2	+	22	3807	c.3191C>A	c.(3190-3192)cCa>cAa	p.P1064Q	DCC_ENST00000581580.1_Missense_Mutation_p.P699Q	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1064					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				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)		GGTTATTGGCCAGTTGATACT	0.299000													11	946					9.70103e-10	3.65366e-08	0.000673444	1	0
RHOT1	55288	broad.mit.edu	37	17	30521075	30521075	+	Missense_Mutation	SNP	G	G	T	rs116192944	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:30521075G>T	ENST00000358365.3	+	11	1045	c.818G>T	c.(817-819)cGa>cTa	p.R273L	RHOT1_ENST00000581094.1_Missense_Mutation_p.R273L|RHOT1_ENST00000394692.2_Missense_Mutation_p.R273L|RHOT1_ENST00000354266.3_Missense_Mutation_p.R252L|RHOT1_ENST00000333942.6_Missense_Mutation_p.R273L|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000583994.1_Missense_Mutation_p.R146L|RHOT1_ENST00000545287.2_Missense_Mutation_p.R273L	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	273					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				GTGCTTCGACGATTTGGTTAT	0.333000													13	1521					3.86212e-05	0.000778902	0.000673444	1	0
MGA	23269	broad.mit.edu	37	15	42019576	42019576	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:42019576G>T	ENST00000219905.7	+	10	3810	c.3629G>T	c.(3628-3630)cGg>cTg	p.R1210L	MGA_ENST00000389936.4_Missense_Mutation_p.R1210L|MGA_ENST00000570161.1_Missense_Mutation_p.R1210L|MGA_ENST00000545763.1_Missense_Mutation_p.R1210L|MGA_ENST00000566586.1_Missense_Mutation_p.R1210L	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1210						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)		AAATCTCCACGGTCATATACT	0.398000													9	658					0.000442599	0.00556767	0.000442599	1	0
ANXA11	311	broad.mit.edu	37	10	81930605	81930605	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81930605T>C	ENST00000438331.1	-	5	604	c.122A>G	c.(121-123)aAc>aGc	p.N41S	ANXA11_ENST00000535999.1_Missense_Mutation_p.N41S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N41S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N8S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N41S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N41S|ANXA11_ENST00000422982.3_Missense_Mutation_p.N41S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	41					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding	p.N41I(1)		endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GGTGGCCACGTTATCCAGCCC	0.652000													17	247					0	0	0.000132079	0	0
FAM53A	152877	broad.mit.edu	37	4	1656790	1656790	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:1656790C>G	ENST00000308132.6	-	4	989	c.797G>C	c.(796-798)aGt>aCt	p.S266T	FAM53A_ENST00000489363.1_Missense_Mutation_p.S266T|FAM53A_ENST00000472884.2_Missense_Mutation_p.S266T|FAM53A_ENST00000461064.1_Missense_Mutation_p.S266T	NM_001174070.1	NP_001167541.1	Q6NSI3	FA53A_HUMAN	family with sequence similarity 53, member A	266						nucleus				breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		all_epithelial(65;0.206)|Breast(71;0.212)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)			CCTCTTCCCACTGAGCACGCA	0.677000													17	119					0	0	0.000566183	0	0
RNF213	57674	broad.mit.edu	37	17	78338344	78338344	+	Silent	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:78338344A>G	ENST00000582970.1	+	42	12005	c.11862A>G	c.(11860-11862)ttA>ttG	p.L3954L	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L4003L|RNF213_ENST00000336301.6_Silent_p.L2027L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGTCTTCTTACTAGACAAGG	0.582000													17	188					0	0	9.7654e-05	0	0
TTI2	80185	broad.mit.edu	37	8	33369577	33369577	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:33369577G>A	ENST00000431156.2	-	2	1173	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TTI2_ENST00000360742.5_Silent_p.C185C|TTI2_ENST00000520636.1_Silent_p.C185C	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN	TELO2 interacting protein 2	185							binding										CCACAGAACCGCATTCAGTAA	0.483000													8	951					0	0	0.000274275	0	0
ARR3	407	broad.mit.edu	37	X	69497974	69497974	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:69497974C>A	ENST00000374495.3	+	11	851	c.753C>A	c.(751-753)ttC>ttA	p.F251L	ARR3_ENST00000307959.8_Missense_Mutation_p.F251L			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	251					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AGACTGTGTTCATTCAGGAAT	0.512000													8	348					0.000274275	0.0039602	0.000274275	1	0
MMGT1	93380	broad.mit.edu	37	X	135049610	135049610	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:135049610C>A	ENST00000305963.2	-	3	562	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C	MMGT1_ENST00000433339.2_Missense_Mutation_p.G124C	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	59						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TGAACTATACCGTAACAGGTA	0.318000													13	880					0.000151284	0.00252221	0.000151284	1	0
OR51A4	401666	broad.mit.edu	37	11	4967898	4967898	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:4967898G>T	ENST00000380373.2	-	1	458	c.433C>A	c.(433-435)Caa>Aaa	p.Q145K	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCCCTATTTGGGCAACTCTG	0.428000													16	2011					2.27111e-07	7.55265e-06	0.00010058	1	0
TRPV6	55503	broad.mit.edu	37	7	142571251	142571251	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:142571251C>A	ENST00000359396.3	-	13	1983	c.1738G>T	c.(1738-1740)Gac>Tac	p.D580Y		NM_018646.3	NP_061116.2	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	580					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGTGAGTGTCGCCCATCATG	0.597000													8	421					0.000157383	0.00254253	0.000157383	1	0
TPP2	7174	broad.mit.edu	37	13	103328763	103328763	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr13:103328763C>A	ENST00000376052.3	+	29	3713	c.3697C>A	c.(3697-3699)Caa>Aaa	p.Q1233K	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376065.4_Missense_Mutation_p.Q1220K			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1220					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAATTGTATTCAAGTAAGTGA	0.308000													13	745					2.31682e-05	0.000501203	0.000308642	1	0
MACF1	23499	broad.mit.edu	37	1	39907708	39907708	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39907708C>A	ENST00000564288.1	+	75	19534	c.18757C>A	c.(18757-18759)Cag>Aag	p.Q6253K	MACF1_ENST00000317713.7_Missense_Mutation_p.Q4194K|MACF1_ENST00000545844.1_Missense_Mutation_p.Q4194K|MACF1_ENST00000539005.1_Missense_Mutation_p.Q4064K|MACF1_ENST00000361689.2_Missense_Mutation_p.Q4194K|MACF1_ENST00000567887.1_Missense_Mutation_p.Q6290K|MACF1_ENST00000289893.4_Missense_Mutation_p.Q4696K|MACF1_ENST00000372915.3_Missense_Mutation_p.Q6152K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6262					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTTAAAGATCAGTTAAATGA	0.358000													9	482					5.50884e-06	0.000142319	0.00010058	1	0
SF3B3	23450	broad.mit.edu	37	16	70564776	70564776	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:70564776G>T	ENST00000302516.5	+	4	737	c.526G>T	c.(526-528)Gga>Tga	p.G176*		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	176					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AGTAGATGTCGGATTTGAAAA	0.413000													10	905					6.40141e-05	0.00117365	6.40141e-05	1	0
DMXL2	23312	broad.mit.edu	37	15	51763499	51763499	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51763499G>T	ENST00000251076.5	-	29	7597	c.7310C>A	c.(7309-7311)cCg>cAg	p.P2437Q	DMXL2_ENST00000449909.3_Missense_Mutation_p.P1801Q|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.P2438Q	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2437						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGCAGGCACCGGTGGTGGGGT	0.443000													9	772					3.86212e-05	0.000778902	0.000673444	1	0
THAP1	55145	broad.mit.edu	37	8	42693251	42693251	+	Missense_Mutation	SNP	C	C	T	rs138918468		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:42693251C>T	ENST00000254250.3	-	3	726	c.496G>A	c.(496-498)Gca>Aca	p.A166T	THAP1_ENST00000345117.2_3'UTR	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	166					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGCTGCTGTGCGGTCTTGAGC	0.443000													9	1026					0	0	0.000442599	0	0
MYO1D	4642	broad.mit.edu	37	17	31039082	31039082	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:31039082C>A	ENST00000318217.5	-	16	2349	c.2045G>T	c.(2044-2046)cGa>cTa	p.R682L	MYO1D_ENST00000579584.1_Missense_Mutation_p.R682L|MYO1D_ENST00000394649.4_Missense_Mutation_p.R594L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	682	Myosin head-like.					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)			TCGGGGTGTTCGAATGAAAAT	0.383000													12	807					0.000219431	0.00342116	0.000219431	1	0
EIF4G2	1982	broad.mit.edu	37	11	10823915	10823915	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:10823915G>T	ENST00000526148.1	-	12	1574	c.1064C>A	c.(1063-1065)cCg>cAg	p.P355Q	EIF4G2_ENST00000396525.2_Missense_Mutation_p.P355Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.P355Q|EIF4G2_ENST00000339995.5_Missense_Mutation_p.P355Q	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	355					cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TGGCATGAACGGTCCCTCCAG	0.438000													9	767					6.40141e-05	0.00117365	6.40141e-05	1	0
BTRC	8945	broad.mit.edu	37	10	103292106	103292106	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:103292106C>A	ENST00000370187.3	+	8	1013	c.895C>A	c.(895-897)Cga>Aga	p.R299R	BTRC_ENST00000393441.4_Silent_p.R258R|BTRC_ENST00000408038.2_Silent_p.R263R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AATTCACTGCCGAAGTGAAAC	0.398000													16	584					0.000566183	0.00706542	0.000566183	1	0
NUFIP2	57532	broad.mit.edu	37	17	27614185	27614185	+	Nonsense_Mutation	SNP	G	G	T	rs147846044		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:27614185G>T	ENST00000225388.4	-	2	885	c.827C>A	c.(826-828)tCg>tAg	p.S276*	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	276						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			AATGGGCTTCGAACCATCTAC	0.438000													9	680					0.000673444	0.00785517	0.000673444	1	0
AGTPBP1	23287	broad.mit.edu	37	9	88200500	88200500	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:88200500C>A	ENST00000357081.3	-	23	3187	c.3043G>T	c.(3043-3045)Gat>Tat	p.D1015Y	AGTPBP1_ENST00000376083.3_Missense_Mutation_p.D975Y|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Missense_Mutation_p.D1027Y|AGTPBP1_ENST00000432218.1_Intron			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	1015					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						CCATGATAATCACAATAAACC	0.313000													11	469					3.07112e-06	8.57171e-05	6.40141e-05	1	0
MYOF	26509	broad.mit.edu	37	10	95115479	95115479	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:95115479G>T	ENST00000371501.4	-	31	3431	c.3309C>A	c.(3307-3309)acC>acA	p.T1103T	MYOF_ENST00000371502.4_Silent_p.T1103T|MYOF_ENST00000358334.5_Silent_p.T1090T|MYOF_ENST00000359263.4_Silent_p.T1103T			Q9NZM1	MYOF_HUMAN	myoferlin	1103					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	p.T1103T(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CCCCATCTTCGGTAGTGTCTG	0.458000													9	867					0.000673444	0.00785517	0.000673444	1	0
ADAM21P1	0	broad.mit.edu	37	14	70714259	70714259	+	RNA	SNP	A	A	G	rs7144638	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:70714259A>G	ENST00000530196.1	-	0	259					NR_003951.1																						CACCACTTCCAGGGAAGTGAA	0.527000													9	420					0	0	0.000308642	0	0
SI	6476	broad.mit.edu	37	3	164793762	164793762	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:164793762C>A	ENST00000264382.3	-	2	101	c.39G>T	c.(37-39)ctG>ctT	p.L13L		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	13					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	AAAGGACAATCAGAGAGATTT	0.284000										HNSCC(35;0.089)			10	541					5.50884e-06	0.000142319	0.00010058	1	0
SLC4A4	8671	broad.mit.edu	37	4	72319302	72319302	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:72319302G>T	ENST00000340595.3	+	9	1477	c.1281G>T	c.(1279-1281)tcG>tcT	p.S427S	SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Silent_p.S427S|SLC4A4_ENST00000351898.6_Silent_p.S471S|SLC4A4_ENST00000425175.1_Silent_p.S471S|SLC4A4_ENST00000264485.5_Silent_p.S471S	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	471						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)			AAGCTCTTTCGGCAATTCTCT	0.413000													15	713					3.45872e-05	0.000740545	0.000422831	1	0
TBC1D23	55773	broad.mit.edu	37	3	100039700	100039700	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:100039700C>A	ENST00000394144.4	+	18	1910	c.1903C>A	c.(1903-1905)Cga>Aga	p.R635R	TBC1D23_ENST00000475134.1_Silent_p.R498R|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000344949.5_Silent_p.R620R	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	635						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TATACAGTCTCGACAAGCGCT	0.353000													9	426					0.000673444	0.00785517	0.000673444	1	0
CPE	1363	broad.mit.edu	37	4	166418743	166418743	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:166418743C>A	ENST00000402744.4	+	9	1692	c.1412C>A	c.(1411-1413)tCa>tAa	p.S471*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	471					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAAATGATGTCAGAAACTTTA	0.303000													8	240					3.86212e-05	0.000778902	0.000673444	1	0
PTPRN	5798	broad.mit.edu	37	2	220172205	220172205	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:220172205G>A	ENST00000295718.2	-	3	481	c.241C>T	c.(241-243)Caa>Taa	p.Q81*	PTPRN_ENST00000409251.3_Nonsense_Mutation_p.Q81*|PTPRN_ENST00000423636.2_5'UTR	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	81					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGTAAGCGTTGGAGAACTGGG	0.557000													34	214					0	0	0.000814825	0	0
ARHGAP24	83478	broad.mit.edu	37	4	86852189	86852189	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:86852189C>A	ENST00000264343.4	+	1	764	c.106C>A	c.(106-108)Cgg>Agg	p.R36R	ARHGAP24_ENST00000395184.1_Intron|ARHGAP24_ENST00000395183.2_Intron|ARHGAP24_ENST00000503995.1_Intron	NM_031305.2	NP_112595.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	129	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TTTTAGTTTTCGGAAAGGTAG	0.378000													8	300					0.000157383	0.00254253	0.000157383	1	0
GAS2L3	283431	broad.mit.edu	37	12	101016096	101016096	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:101016096G>T	ENST00000537247.1	+	9	1334	c.380G>T	c.(379-381)cGa>cTa	p.R127L	GAS2L3_ENST00000539410.1_Missense_Mutation_p.R231L|GAS2L3_ENST00000266754.5_Missense_Mutation_p.R231L|GAS2L3_ENST00000547754.1_Missense_Mutation_p.R231L			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	231	CH.				cell cycle arrest					endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						TGTTCTCATCGATTTTCTATT	0.318000													10	623					0.000308642	0.00435582	0.000308642	1	0
FRMD4A	55691	broad.mit.edu	37	10	13712473	13712473	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:13712473G>T	ENST00000357447.2	-	17	1675	c.1307C>A	c.(1306-1308)cCc>cAc	p.P436H	FRMD4A_ENST00000378503.1_Missense_Mutation_p.P436H|FRMD4A_ENST00000358621.4_Missense_Mutation_p.P421H	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	436						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CCGAACAATGGGTGGTTCCTC	0.502000													7	353					5.18039e-06	0.000141431	0.000157383	1	0
GPX1	2876	broad.mit.edu	37	3	49395482	49395482	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:49395482G>C	ENST00000419783.1	-	1	551	c.230C>G	c.(229-231)cCg>cGg	p.P77R	GPX1_ENST00000419349.1_Missense_Mutation_p.P77R|GPX1_ENST00000496791.1_5'UTR	NM_000581.2	NP_000572.2	P07203	GPX1_HUMAN	glutathione peroxidase 1	77					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CTGGTTGCACGGGAAGCCGAG	0.726000													5	114					0	0	0.000673444	0	0
CCDC7	221016	broad.mit.edu	37	10	32780874	32780874	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:32780874G>T	ENST00000362006.5	+	10	1364	c.821G>T	c.(820-822)cGa>cTa	p.R274L	CCDC7_ENST00000489718.1_3'UTR|CCDC7_ENST00000535327.1_Intron|CCDC7_ENST00000545067.1_Intron|CCDC7_ENST00000539197.1_Intron|CCDC7_ENST00000537047.1_3'UTR|CCDC7_ENST00000277657.6_Missense_Mutation_p.R274L	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	274										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ATGACTAATCGATTTAATGCC	0.249000													19	1161					0.00074312	0.00863566	0.00074312	1	0
ZNF254	9534	broad.mit.edu	37	19	24309885	24309885	+	Silent	SNP	G	G	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:24309885G>A	ENST00000357002.4	+	4	1198	c.1083G>A	c.(1081-1083)caG>caA	p.Q361Q	ZNF254_ENST00000342944.6_Silent_p.Q276Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	361					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAGTCCTCAACCC	0.393000													6	412					0	0	3.59834e-05	0	0
POFUT2	23275	broad.mit.edu	37	21	46687600	46687600	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr21:46687600G>T	ENST00000331343.7	-	8	1067	c.1041C>A	c.(1039-1041)ccC>ccA	p.P347P	POFUT2_ENST00000349485.5_Silent_p.P347P|POFUT2_ENST00000471540.1_5'UTR	NM_015227.4	NP_056042.1	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	347					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		TCACCATCTCGGGTAACAGCT	0.517000													12	781					1.49906e-05	0.000353665	0.000219431	1	0
KLK13	26085	broad.mit.edu	37	19	51559890	51559890	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:51559890C>A	ENST00000595793.1	-	5	830	c.788G>T	c.(787-789)cGa>cTa	p.R263L	KLK13_ENST00000335422.3_Missense_Mutation_p.R111L|KLK13_ENST00000595547.1_Missense_Mutation_p.R190L	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	263	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity	p.R263L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TTCATATTTTCGGATTGTTTC	0.512000													10	913					0.000442599	0.00556767	0.000442599	1	0
MNS1	55329	broad.mit.edu	37	15	56735874	56735874	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:56735874G>T	ENST00000260453.3	-	6	1029	c.865C>A	c.(865-867)Caa>Aaa	p.Q289K	TEX9_ENST00000352903.2_Intron|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	289	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TCATTTTCTTGAACTTTTGCC	0.348000													10	598					0.000219431	0.00342116	0.000219431	1	0
ZNF733P	0	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1																						CTTATGTCTAGTAAGGTTTGA	0.438000													4	112					0	0	0.000602214	0	0
LDHAL6B	92483	broad.mit.edu	37	15	59499329	59499329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:59499329G>T	ENST00000307144.4	+	1	288	c.190G>T	c.(190-192)Gag>Tag	p.E64*	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	64					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	TTTCACTTCCGAGAAGCCCGT	0.532000													9	444					0.000274275	0.0039602	0.000274275	1	0
DNM1P47	0	broad.mit.edu	37	15	102292797	102292797	+	RNA	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:102292797C>G	ENST00000561463.1	+	0	843																		p.P129A(2)									GAGCTGCTGTCCAACCTGCAC	0.597000													7	217					0	0	0.000274275	0	0
KCNQ5	56479	broad.mit.edu	37	6	73713655	73713655	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:73713655G>T	ENST00000342056.2	+	2	821	c.423G>T	c.(421-423)ttG>ttT	p.L141F	KCNQ5_ENST00000414165.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L141F|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L141F|KCNQ5_ENST00000403813.2_Missense_Mutation_p.L141F|KCNQ5_ENST00000355194.4_Missense_Mutation_p.L141F|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L141F	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	141					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGGTTGCTTGATTTTGTCAG	0.363000													8	388					0.000673444	0.00785517	0.000673444	1	0
RNF14	9604	broad.mit.edu	37	5	141354446	141354446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:141354446G>T	ENST00000394520.2	+	4	541	c.232G>T	c.(232-234)Gaa>Taa	p.E78*	RNF14_ENST00000356143.1_Nonsense_Mutation_p.E78*|RNF14_ENST00000540015.1_Intron|RNF14_ENST00000394514.2_Intron|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E78*|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394515.3_Nonsense_Mutation_p.E78*|RNF14_ENST00000502341.1_Intron|RNF14_ENST00000394519.1_Nonsense_Mutation_p.E78*	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	78	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GCTGAACTTTGAACTGCCACC	0.413000													12	890					1.49906e-05	0.000353665	0.000219431	1	0
ZRANB1	54764	broad.mit.edu	37	10	126662279	126662279	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:126662279C>A	ENST00000359653.4	+	4	1593	c.1222C>A	c.(1222-1224)Caa>Aaa	p.Q408K		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	408	TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		TAGAGACGTTCAAAAAGGTAA	0.328000													11	816					6.40141e-05	0.00117365	6.40141e-05	1	0
DMXL2	23312	broad.mit.edu	37	15	51780219	51780219	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:51780219C>A	ENST00000251076.5	-	22	5436	c.5149G>T	c.(5149-5151)Gga>Tga	p.G1717*	DMXL2_ENST00000449909.3_Nonsense_Mutation_p.G1081*|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Nonsense_Mutation_p.G1717*	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1717						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CGTTGTTTTCCAAGTAAGGAA	0.348000													15	1219					0.000151284	0.00252221	0.000151284	1	0
GDI2	2665	broad.mit.edu	37	10	5827938	5827938	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:5827938G>T	ENST00000380191.4	-	5	754	c.464C>A	c.(463-465)cCa>cAa	p.P155Q	GDI2_ENST00000380181.3_Missense_Mutation_p.P110Q|GDI2_ENST00000380132.4_Missense_Mutation_p.P159Q	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	155					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						AAAAGTTCTTGGATCTTTTTC	0.348000													7	456					0.000157383	0.00254253	0.000157383	1	0
TMEM184C	55751	broad.mit.edu	37	4	148545043	148545043	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:148545043C>A	ENST00000296582.3	+	2	756	c.182C>A	c.(181-183)cCt>cAt	p.P61H	TMEM184C_ENST00000508208.1_Missense_Mutation_p.P61H	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	61						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTGACTATTCCTATATCACTG	0.308000													8	513					2.17888e-05	0.00047966	0.000442599	1	0
ACOT4	122970	broad.mit.edu	37	14	74060538	74060538	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:74060538C>A	ENST00000326303.4	+	2	844	c.590C>A	c.(589-591)cCc>cAc	p.P197H		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	197					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAAGATCTCCCCAATAACATG	0.468000													10	780					5.50884e-06	0.000142319	0.00010058	1	0
ZNF844	284391	broad.mit.edu	37	19	12187443	12187443	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:12187443C>G	ENST00000439326.3	+	4	1683	c.1508C>G	c.(1507-1509)cCt>cGt	p.P503R	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P503R(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAGAGAAACCCTATGAGTGTA	0.413000													6	321					0	0	3.59834e-05	0	0
BAZ1B	9031	broad.mit.edu	37	7	72891240	72891240	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:72891240G>T	ENST00000339594.4	-	7	2889	c.2551C>A	c.(2551-2553)Caa>Aaa	p.Q851K	BAZ1B_ENST00000404251.1_Missense_Mutation_p.Q851K	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	851					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCTTAGCTTGAATGGCAAGC	0.393000													16	1046					0.000422831	0.00556767	0.000422831	1	0
SYNM	23336	broad.mit.edu	37	15	99669709	99669709	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:99669709C>A	ENST00000336292.6	+	5	1261	c.1141C>A	c.(1141-1143)Cgt>Agt	p.R381S	SYNM_ENST00000560674.1_Missense_Mutation_p.R96S|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.R381S	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	382	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GTCAGGGCACCGTGGATCTCA	0.488000													8	915					0.000442599	0.00556767	0.000442599	1	0
RFX4	5992	broad.mit.edu	37	12	107103179	107103179	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:107103179C>A	ENST00000392842.1	+	9	1319	c.905C>A	c.(904-906)cCa>cAa	p.P302Q	RFX4_ENST00000357881.4_Missense_Mutation_p.P311Q|RFX4_ENST00000229387.5_Missense_Mutation_p.P208Q|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	302					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CACGACCTCCCAGAAAACTTG	0.398000													7	333					2.17888e-05	0.00047966	0.000442599	1	0
GEN1	348654	broad.mit.edu	37	2	17959283	17959283	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:17959283G>T	ENST00000381254.2	+	12	1431	c.1217G>T	c.(1216-1218)cGa>cTa	p.R406L	GEN1_ENST00000317402.7_Missense_Mutation_p.R406L|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	406					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTAAGACTCGAATCAGAAAT	0.274000								Homologous recombination					11	653					6.40141e-05	0.00117365	6.40141e-05	1	0
TSHZ3	57616	broad.mit.edu	37	19	31769737	31769737	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:31769737C>A	ENST00000240587.4	-	2	1289	c.962G>T	c.(961-963)cGg>cTg	p.R321L		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	321					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					AGCTTTCTTCCGAGTGGCAGG	0.527000													7	409					0.000442599	0.00556767	0.000442599	1	0
PCDH18	54510	broad.mit.edu	37	4	138451498	138451498	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:138451498C>T	ENST00000344876.4	-	1	2131	c.1745G>A	c.(1744-1746)cGt>cAt	p.R582H	PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000412923.2_Missense_Mutation_p.R582H|PCDH18_ENST00000507846.1_Missense_Mutation_p.R362H|PCDH18_ENST00000511115.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	582	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R582H(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CGTATTATTACGCAATGCAGG	0.463000													98	749					0	0	0.000781405	0	0
DNAJB14	79982	broad.mit.edu	37	4	100851701	100851701	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:100851701C>A	ENST00000442697.2	-	2	365	c.211G>T	c.(211-213)Gat>Tat	p.D71Y	DNAJB14_ENST00000471738.1_5'UTR	NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	71					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTGCTTTGATCGCCACTACCT	0.428000													10	688					0.000673444	0.00785517	0.000673444	1	0
FAM13B	0	broad.mit.edu	37	5	137278825	137278825	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:137278825G>T	ENST00000033079.3	-	20	2806	c.2355C>A	c.(2353-2355)atC>atA	p.I785I	FAM13B_ENST00000425075.2_Silent_p.I661I|FAM13B_ENST00000420893.2_Silent_p.I757I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	785					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						GGATTACCTTGATTTCTTCAA	0.363000													8	363					0.000274275	0.0039602	0.000274275	1	0
EIF4G3	8672	broad.mit.edu	37	1	21180069	21180069	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:21180069G>T	ENST00000602326.1	-	25	3968	c.3385C>A	c.(3385-3387)Cga>Aga	p.R1129R	EIF4G3_ENST00000536266.1_Silent_p.R727R|EIF4G3_ENST00000400422.1_Silent_p.R1123R|EIF4G3_ENST00000374935.3_Silent_p.R843R|EIF4G3_ENST00000537738.1_Silent_p.R613R|EIF4G3_ENST00000264211.8_Silent_p.R1123R|EIF4G3_ENST00000374937.3_Silent_p.R1129R	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1123					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AAGGTCCTTCGGGAATCAAAC	0.507000													6	172					5.18039e-06	0.000141431	0.000157383	1	0
OCA2	4948	broad.mit.edu	37	15	28263683	28263683	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:28263683C>T	ENST00000354638.3	-	7	822	c.667G>A	c.(667-669)Gtg>Atg	p.V223M	OCA2_ENST00000382996.2_Missense_Mutation_p.V223M|OCA2_ENST00000353809.5_Missense_Mutation_p.V223M	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	223					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTGGAGTCCACGTGGCTGCTA	0.652000									Oculocutaneous Albinism				17	94					0	0	0.00074312	0	0
SLC30A7	148867	broad.mit.edu	37	1	101387303	101387303	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:101387303G>T	ENST00000370112.4	+	8	935	c.748G>T	c.(748-750)Ggt>Tgt	p.G250C	SLC30A7_ENST00000357650.4_Missense_Mutation_p.G250C	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	250					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGAAGTATTGGTGTAATTGC	0.303000													10	1041					1.58986e-06	4.62318e-05	0.000673444	1	0
BARHL1	56751	broad.mit.edu	37	9	135462791	135462791	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:135462791C>T	ENST00000263610.2	+	2	1155	c.542C>T	c.(541-543)gCg>gTg	p.A181V	BARHL1_ENST00000542090.1_Missense_Mutation_p.A181V	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	181						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		CCACGCAAGGCGCGCACGGCC	0.677000													5	39					0	0	0.000602214	0	0
MACF1	23499	broad.mit.edu	37	1	39852861	39852861	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:39852861G>T	ENST00000564288.1	+	58	15124	c.14347G>T	c.(14347-14349)Gat>Tat	p.D4783Y	MACF1_ENST00000317713.7_Missense_Mutation_p.D2721Y|MACF1_ENST00000545844.1_Missense_Mutation_p.D2721Y|MACF1_ENST00000539005.1_Missense_Mutation_p.D2700Y|MACF1_ENST00000361689.2_Missense_Mutation_p.D2721Y|MACF1_ENST00000567887.1_Missense_Mutation_p.D4820Y|MACF1_ENST00000289893.4_Missense_Mutation_p.D3223Y|MACF1_ENST00000372915.3_Missense_Mutation_p.D4788Y			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4788					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATTTCAGCCGATCGCATTAA	0.438000													8	634					0.000442599	0.00556767	0.000442599	1	0
DDX23	9416	broad.mit.edu	37	12	49237775	49237775	+	Silent	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:49237775G>T	ENST00000308025.3	-	3	347	c.268C>A	c.(268-270)Cga>Aga	p.R90R	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	90	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	p.R90R(1)		NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCTCGATCTCGGTCCTTCTTA	0.488000													14	1015					0.000308642	0.00435582	0.000308642	1	0
ZNF493	284443	broad.mit.edu	37	19	21606712	21606712	+	Silent	SNP	T	T	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:21606712T>C	ENST00000392288.2	+	4	1360	c.1251T>C	c.(1249-1251)tcT>tcC	p.S417S	ZNF493_ENST00000355504.4_Silent_p.S289S|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						ATAAGGAGTCTTCACACCTTA	0.348000													7	360					0	0	0.000442599	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:72664015C>G	ENST00000425256.1	-	0	885					NR_002164.1																						ATACCACCCCCGGGGCATGCC	0.507000													5	48					0	0	0.000274275	0	0
KLHL8	57563	broad.mit.edu	37	4	88084792	88084792	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:88084792C>A	ENST00000273963.5	-	10	2083	c.1742G>T	c.(1741-1743)tGg>tTg	p.W581L	KLHL8_ENST00000512111.1_Missense_Mutation_p.W581L|KLHL8_ENST00000425278.2_Missense_Mutation_p.W398L|KLHL8_ENST00000498875.2_Missense_Mutation_p.W505L|KLHL8_ENST00000545252.1_Missense_Mutation_p.W230L	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	581										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		AACAAGCTCCCACCTGAAAAG	0.398000													9	304					0.000442599	0.00556767	0.000442599	1	0
XRN2	22803	broad.mit.edu	37	20	21327079	21327079	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:21327079G>T	ENST00000377191.3	+	17	1651	c.1556G>T	c.(1555-1557)cGg>cTg	p.R519L	XRN2_ENST00000430571.2_Missense_Mutation_p.R443L|XRN2_ENST00000539513.1_Missense_Mutation_p.R465L	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	519					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TGGAAGCAGCGGTACTACAAG	0.438000													7	522					0.000442599	0.00556767	0.000442599	1	0
PIKFYVE	200576	broad.mit.edu	37	2	209216171	209216171	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:209216171C>A	ENST00000264380.4	+	38	5865	c.5707C>A	c.(5707-5709)Caa>Aaa	p.Q1903K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1903	Catalytic.|PIPK.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAATGCTGTTCAACAAAAGGT	0.348000													11	835					2.31682e-05	0.000501203	0.000308642	1	0
SPRR2E	6704	broad.mit.edu	37	1	153066021	153066021	+	Silent	SNP	G	G	C	rs79132921		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:153066021G>C	ENST00000368751.1	-	2	281	c.207C>G	c.(205-207)ccC>ccG	p.P69P	SPRR2B_ENST00000368752.4_Intron|SPRR2E_ENST00000368750.3_Silent_p.P69P			P22531	SPR2E_HUMAN	small proline-rich protein 2E	69					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTGCTCTTGGGTGGACACT	0.522000													9	849					0	0	0.000566183	0	0
STX2	2054	broad.mit.edu	37	12	131297527	131297527	+	Silent	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131297527C>A	ENST00000261653.6	-	4	421	c.255G>T	c.(253-255)gcG>gcT	p.A85A	STX2_ENST00000392373.2_Silent_p.A85A	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	85					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		GAATTTTATTCGCAGTTTTCT	0.249000													10	719					1.05317e-09	3.94277e-08	0.000219431	1	0
NEB	4703	broad.mit.edu	37	2	152484296	152484296	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:152484296C>A	ENST00000427231.2	-	69	10086	c.9884G>T	c.(9883-9885)cGg>cTg	p.R3295L	NEB_ENST00000397345.3_Missense_Mutation_p.R3295L|NEB_ENST00000603639.1_Missense_Mutation_p.R3295L|NEB_ENST00000172853.10_Missense_Mutation_p.R3052L|NEB_ENST00000604864.1_Missense_Mutation_p.R3295L|NEB_ENST00000409198.1_Missense_Mutation_p.R3052L	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	3295					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCAATGTTCCGGGCTCCAAT	0.438000													10	1158					1.12685e-05	0.000275198	0.000274275	1	0
SBNO1	55206	broad.mit.edu	37	12	123794299	123794299	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:123794299G>T	ENST00000420886.2	-	25	3399	c.3400C>A	c.(3400-3402)Caa>Aaa	p.Q1134K	SBNO1_ENST00000267176.4_Missense_Mutation_p.Q1133K|SBNO1_ENST00000602398.1_Missense_Mutation_p.Q1134K|SBNO1_ENST00000602750.1_Missense_Mutation_p.Q1133K	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1134							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TTGGCATTTTGAACAACTGCA	0.383000													14	801					4.93089e-13	1.95113e-11	0.000219431	1	0
TENM1	10178	broad.mit.edu	37	X	123637539	123637539	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:123637539C>A	ENST00000422452.2	-	19	3379	c.3316G>T	c.(3316-3318)Gaa>Taa	p.E1106*	TENM1_ENST00000371130.3_Nonsense_Mutation_p.E1106*	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GTTTCATATTCATATCCCACA	0.373000													12	929					0.000151284	0.00252221	0.000151284	1	0
URB2	9816	broad.mit.edu	37	1	229763469	229763469	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:229763469G>T	ENST00000258243.2	+	2	225	c.89G>T	c.(88-90)tGg>tTg	p.W30L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	30						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CACTTTGCTTGGATTTCTCAC	0.338000													8	542					3.86212e-05	0.000778902	0.000673444	1	0
HECW2	57520	broad.mit.edu	37	2	197090556	197090556	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:197090556A>G	ENST00000260983.2	-	23	4138	c.3956T>C	c.(3955-3957)aTa>aCa	p.I1319T	HECW2_ENST00000409111.1_Missense_Mutation_p.I963T	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1319	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATACTGGTGTATTAGTGCAAG	0.403000													36	319					0	0	0.000437636	0	0
CSMD2	114784	broad.mit.edu	37	1	33985222	33985222	+	Silent	SNP	G	G	T	rs144356782	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:33985222G>T	ENST00000373381.4	-	70	10968	c.10792C>A	c.(10792-10794)Cgg>Agg	p.R3598R		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3454						integral to membrane|plasma membrane	protein binding	p.R3454W(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AATGTGGCCCGAACATTGGTG	0.537000													15	1162					1.49906e-05	0.000353665	0.000219431	1	0
SYT9	143425	broad.mit.edu	37	11	7335003	7335003	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:7335003C>A	ENST00000318881.6	+	3	1112	c.875C>A	c.(874-876)cCg>cAg	p.P292Q	SYT9_ENST00000396716.2_Missense_Mutation_p.P260Q	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	292	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TTTTTATTTCCGGTTCCCTAC	0.433000													9	1028					0.000442599	0.00556767	0.000442599	1	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													7	48	---	---	---	---					
TCEB3	6924	broad.mit.edu	37	1	24078404	24078404	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:24078404delA	ENST00000418390.2	+	4	1658	c.1387delA	c.(1387-1389)aafs	p.K464fs		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	464					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	p.N439fs*19(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TAAAGGACTTAAAAAAAATGA	0.413											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	753	---	---	---	---					
CDCA8	55143	broad.mit.edu	37	1	38166149	38166151	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:38166149_38166151delGAA	ENST00000373055.1	+	5	652_654	c.379_381delGAA	c.(379-381)del	p.E131del	CDCA8_ENST00000327331.2_In_Frame_Del_p.E131del	NM_001256875.1|NM_018101.3	NP_001243804.1|NP_060571.1	Q53HL2	BOREA_HUMAN	cell division cycle associated 8	131	Poly-Glu.|Required for interaction with SENP3.				cell division|chromosome organization|mitotic metaphase|mitotic prometaphase	chromosome passenger complex|chromosome, centromeric region|cytosol|nucleolus|spindle	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(1)|stomach(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGTGGAAGAGGAAGAAGAAGAAG	0.384													8	867	---	---	---	---					
CLCC1	23155	broad.mit.edu	37	1	109477407	109477407	+	Frame_Shift_Del	DEL	T	T	-	rs150759040	by1000genomes	TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:109477407delT	ENST00000369971.2	-	11	1670	c.1541delA	c.(1540-1542)agfs	p.K514fs	CLCC1_ENST00000369968.2_Frame_Shift_Del_p.K329fs|CLCC1_ENST00000302500.4_Frame_Shift_Del_p.K393fs|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000415331.1_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000369970.3_Frame_Shift_Del_p.K464fs|CLCC1_ENST00000348264.2_Frame_Shift_Del_p.K329fs|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Frame_Shift_Del_p.K514fs|CLCC1_ENST00000369969.2_Frame_Shift_Del_p.K393fs	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	514						endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		GAGCTGGGCCTTTTCCGCTGC	0.597													7	740	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gtfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378													7	699	---	---	---	---					
ACBD3	64746	broad.mit.edu	37	1	226352490	226352491	+	Splice_Site	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr1:226352490_226352491insT	ENST00000366812.5	-	3	622_623	c.569_splice	c.e3+1	p.E190_splice		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	190	Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		CAAACTTCACCTTTTTTTTTCT	0.411													9	451	---	---	---	---					
IGKV1D-8	0	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236																											AATTTACTCAGCCAATGTGCTC	0.480													8	706	---	---	---	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:96919781_96919783delTGC	ENST00000258439.2	-	4	736_738	c.480_482delGCA	c.(478-483)cat>ca	p.QH160del	TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del|TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													12	367	---	---	---	---					
SULT1C3	442038	broad.mit.edu	37	2	108863685	108863685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:108863685delA	ENST00000376700.1	+	1	35	c.35delA	c.(34-36)gafs	p.E12fs	SULT1C3_ENST00000329106.2_Frame_Shift_Del_p.E12fs			Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	12						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CCCACGATGGAAAAAAAGCCA	0.353													7	646	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148657040	148657041	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:148657040_148657041insA	ENST00000241416.7	+	3	913_914	c.277_278insA	c.(277-279)aaafs	p.K93fs	AC009480.3_ENST00000402410.2_RNA|ACVR2A_ENST00000404590.1_Frame_Shift_Ins_p.K93fs|ACVR2A_ENST00000535787.1_5'UTR	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	93					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TGATTGTGTAGAAAAAAAAGAC	0.302													7	584	---	---	---	---					
SSB	6741	broad.mit.edu	37	2	170665008	170665008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:170665008delA	ENST00000409333.1	+	7	818	c.571delA	c.(571-573)aafs	p.K192fs	SSB_ENST00000260956.4_Frame_Shift_Del_p.K192fs			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	192					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TTACTTTGCCAAAAAAAATGA	0.323													8	584	---	---	---	---					
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:204150380delA	ENST00000356079.4	+	9	1019	c.896delA	c.(895-897)cafs	p.Q299fs	CYP20A1_ENST00000429815.2_Frame_Shift_Del_p.Q307fs|CYP20A1_ENST00000461371.1_3'UTR	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	299						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348													7	573	---	---	---	---					
AC131097.3	0	broad.mit.edu	37	2	242823746	242823749	+	RNA	DEL	GTGT	GTGT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr2:242823746_242823749delGTGT	ENST00000430555.1	+	0	116				AC131097.3_ENST00000415434.1_RNA|AC131097.3_ENST00000457686.1_RNA																							GTGGCCCAGCgtgtgtgtgtgtgt	0.691													3	6	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12046124	12046126	+	RNA	DEL	AGC	AGC	-	rs76272937		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:12046124_12046126delAGC	ENST00000432424.2	+	0	245_247							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						AGCCCCAGCAAGCGCCGAcgccg	0.764													8	29	---	---	---	---					
SATB1	6304	broad.mit.edu	37	3	18391133	18391135	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:18391133_18391135delCTG	ENST00000338745.6	-	11	3553_3555	c.1819_1821delCAG	c.(1819-1821)del	p.Q607del	SATB1_ENST00000417717.2_In_Frame_Del_p.Q639del|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_In_Frame_Del_p.Q607del	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	607	Poly-Gln.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606													7	118	---	---	---	---					
CCR3	1232	broad.mit.edu	37	3	46306948	46306948	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:46306948delT	ENST00000357422.2	+	4	842	c.299delT	c.(298-300)gtfs	p.V100fs	CCR3_ENST00000395942.2_Frame_Shift_Del_p.V100fs|CCR3_ENST00000545097.1_Frame_Shift_Del_p.V121fs|CCR3_ENST00000541018.1_Frame_Shift_Del_p.V100fs|CCR3_ENST00000395940.2_Frame_Shift_Del_p.V100fs			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	100					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		CATAACTGGGTTTTTGGCCAT	0.488													8	1169	---	---	---	---					
LRIG1	26018	broad.mit.edu	37	3	66436625	66436627	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:66436625_66436627delGCT	ENST00000383703.3	-	14	2242_2244	c.1639_1641delAGC	c.(1639-1641)del	p.S548del	LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_In_Frame_Del_p.S524del|SLC25A26_ENST00000536651.1_3'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	524	Ig-like C2-type 1.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCATGGGGGAGCTGCTGCTGCTG	0.547													9	1198	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)del	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502													9	192	---	---	---	---					
ATP6V1A	523	broad.mit.edu	37	3	113505224	113505224	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:113505224delT	ENST00000273398.3	+	6	818	c.710delT	c.(709-711)ctfs	p.L237fs	ATP6V1A_ENST00000538620.1_Frame_Shift_Del_p.L204fs	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	237					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGATGCCCTTTTTCCGTAA	0.423													7	844	---	---	---	---					
ZXDC	79364	broad.mit.edu	37	3	126178522	126178522	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:126178522delT	ENST00000389709.3	-	7	2239	c.2186delA	c.(2185-2187)agfs	p.K729fs		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	729					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TCCTCTCTGCTTTTTTTCCTT	0.522													8	1659	---	---	---	---					
TOPBP1	11073	broad.mit.edu	37	3	133329879	133329880	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:133329879_133329880insT	ENST00000260810.5	-	25	4272_4273	c.4141_4142insA	c.(4141-4143)ccafs	p.P1381fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1381					DNA repair|response to ionizing radiation	microtubule organizing center|PML body|spindle pole	DNA binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	40						TCTTTGCTGGATTTTTTTTCTC	0.342								Other conserved DNA damage response genes					8	813	---	---	---	---					
RNF168	165918	broad.mit.edu	37	3	196214338	196214338	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr3:196214338delT	ENST00000318037.3	-	3	1084	c.490delA	c.(490-492)ggfs	p.R166fs		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	166	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCTCTTCGCCTTTTTTCTGCC	0.448													7	1078	---	---	---	---					
TMEM175	84286	broad.mit.edu	37	4	946206	946207	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:946206_946207delTG	ENST00000264771.4	+	7	615_616	c.430_431delTG	c.(430-432)tfs	p.C144fs	TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000508204.1_Frame_Shift_Del_p.C62fs|TMEM175_ENST00000515740.1_Frame_Shift_Del_p.C28fs	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	144						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CTTCTTGTTCTGTGTGTGTGTG	0.515													9	784	---	---	---	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:41648508_41648509delGA	ENST00000313860.7	+	12	1317_1318	c.1263_1264delGA	c.(1261-1266)cggafs	p.RR421fs	LIMCH1_ENST00000509277.1_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000508501.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000503057.1_Frame_Shift_Del_p.RR806fs|LIMCH1_ENST00000381753.4_Frame_Shift_Del_p.RR255fs|LIMCH1_ENST00000512632.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000514096.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000512946.1_Frame_Shift_Del_p.RR421fs|LIMCH1_ENST00000511496.1_Frame_Shift_Del_p.RR262fs|LIMCH1_ENST00000513024.1_Frame_Shift_Del_p.RR250fs|LIMCH1_ENST00000512820.1_Frame_Shift_Del_p.RR409fs|LIMCH1_ENST00000396595.3_Frame_Shift_Del_p.RR267fs	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	421					actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													16	693	---	---	---	---					
HERC5	51191	broad.mit.edu	37	4	89381265	89381266	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:89381265_89381266insA	ENST00000264350.3	+	3	562_563	c.409_410insA	c.(409-411)aaafs	p.K137fs	HERC5_ENST00000508695.1_3'UTR	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	137					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CATTTTACAAGAAAAAAAAATA	0.272													8	385	---	---	---	---					
MAML3	55534	broad.mit.edu	37	4	140810639	140810641	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr4:140810639_140810641delGCT	ENST00000509479.2	-	2	2805_2807	c.1949_1951delAGC	c.(1948-1953)ccg>c	p.QP650del	MAML3_ENST00000398940.1_In_Frame_Del_p.QP178del|MAML3_ENST00000327122.5_In_Frame_Del_p.QP494del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	646	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGAGGTGGCGgctgctgctgctg	0.586													9	263	---	---	---	---					
CARD6	84674	broad.mit.edu	37	5	40853094	40853094	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:40853094delT	ENST00000254691.5	+	3	1859	c.1660delT	c.(1660-1662)ttfs	p.F556fs	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	556					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TTCAGCTGTGTTTTTTTTCAC	0.418													7	658	---	---	---	---					
C6	729	broad.mit.edu	37	5	41160299	41160300	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr5:41160299_41160300delAC	ENST00000263413.3	-	11	1892_1893	c.1628_1629delGT	c.(1627-1629)tfs	p.C543fs	C6_ENST00000337836.5_Frame_Shift_Del_p.C543fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	543	EGF-like.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TGCCACTCTGACACACACACAG	0.475													7	515	---	---	---	---					
MYLK4	340156	broad.mit.edu	37	6	2671572	2671574	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:2671572_2671574delTTC	ENST00000274643.7	-	12	1470_1472	c.1128_1130delGAA	c.(1126-1131)aat>aa	p.KN376del	MYLK4_ENST00000268446.5_In_Frame_Del_p.KN376del	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	376							ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAGCCACGATTCTTCTTCTTCT	0.473													7	546	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30572795	30572795	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:30572795delT	ENST00000376511.2	-	11	1482	c.930delA	c.(928-930)aafs	p.K310fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	310	Interaction with TOX4 (By similarity).|Poly-Lys.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTGACAGTACTTTTTTTTTCT	0.448													8	329	---	---	---	---					
CYP21A1P	0	broad.mit.edu	37	6	31975223	31975224	+	RNA	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:31975223_31975224insT	ENST00000342991.6	+	0	1346_1347					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													7	310	---	---	---	---					
PHACTR2	9749	broad.mit.edu	37	6	144086413	144086414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:144086413_144086414insA	ENST00000427704.2	+	6	807_808	c.677_678insA	c.(676-678)taafs	p.*226fs	PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.*214fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.*237fs|PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.*146fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.*157fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396													8	610	---	---	---	---					
SYNE1	23345	broad.mit.edu	37	6	152539540	152539540	+	Splice_Site	DEL	T	T	-	rs35128811		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr6:152539540delT	ENST00000367255.5	-	121	22646		c.e121-2		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000356820.4_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AACTCCAGCCTTTTTTTCCAC	0.343										HNSCC(10;0.0054)			7	862	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24910452	24910453	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:24910452_24910453delTC	ENST00000313367.2	-	5	730_731	c.279_280delGA	c.(277-282)gaagfs	p.EK93fs	OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	93	PH.				lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCATGCAGCTTCTCTCTCTCTA	0.500													7	483	---	---	---	---					
INTS4L2	0	broad.mit.edu	37	7	65150816	65150816	+	RNA	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:65150816delA	ENST00000430126.2	+	0	757																											TTCATCCCTCACCCCCCCCCC	0.463													8	58	---	---	---	---					
PCLO	27445	broad.mit.edu	37	7	82583922	82583923	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:82583922_82583923delAG	ENST00000423517.2	-	5	6683_6684	c.6346_6347delCT	c.(6346-6348)tfs	p.L2116fs	PCLO_ENST00000333891.8_Frame_Shift_Del_p.L2116fs	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	2047					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGAATCTGTAAGAGACGCTCCT	0.436													21	193	---	---	---	---					
STEAP2	261729	broad.mit.edu	37	7	89856464	89856465	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:89856464_89856465insT	ENST00000287908.3	+	3	1065_1066	c.672_673insT	c.(670-675)acttttfs	p.TF224fs	STEAP2_ENST00000394629.2_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000394621.2_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000394622.2_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000402625.2_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000394626.1_Frame_Shift_Ins_p.TF224fs|STEAP2_ENST00000394632.1_Frame_Shift_Ins_p.TF224fs	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	224					electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					GCTTGGCCACATTTTTTTTCCT	0.391													7	615	---	---	---	---					
C7orf55-LUC7L2	0	broad.mit.edu	37	7	139094365	139094366	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:139094365_139094366delAG	ENST00000354926.4	+	7	1098_1099	c.744_745delAG	c.(742-747)gaagfs	p.EE248fs	C7orf55-LUC7L2_ENST00000263545.6_Frame_Shift_Del_p.EE247fs|C7orf55-LUC7L2_ENST00000541170.3_Frame_Shift_Del_p.EE245fs|LUC7L2_ENST00000541515.3_Frame_Shift_Del_p.EE314fs	NM_016019.3	NP_057103.2																					AACGAAGAGAAGAGAGAGAGAG	0.391													8	137	---	---	---	---					
FAM115C	285966	broad.mit.edu	37	7	143417404	143417405	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr7:143417404_143417405delCT	ENST00000441159.2	+	3	1318_1319	c.1252_1253delCT	c.(1252-1254)cfs	p.L418fs	FAM115C_ENST00000444908.2_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000409703.3_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000357344.4_Frame_Shift_Del_p.L418fs|FAM115C_ENST00000411497.2_Frame_Shift_Del_p.L137fs|FAM115C_ENST00000411935.1_Frame_Shift_Del_p.L254fs|FAM115C_ENST00000425618.2_Frame_Shift_Del_p.L137fs			A6NFQ2	F115C_HUMAN	family with sequence similarity 115, member C	418										endometrium(2)|large_intestine(4)|lung(2)|prostate(1)	9						CCGCAAGGCGCTCTCTCAATTC	0.530													7	11	---	---	---	---					
PCMTD1	115294	broad.mit.edu	37	8	52733063	52733063	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:52733063delT	ENST00000360540.5	-	7	1328	c.922delA	c.(922-924)tgfs	p.M308fs	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Frame_Shift_Del_p.M308fs|PCMTD1_ENST00000544451.1_Frame_Shift_Del_p.M232fs	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	308						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				tcctcttccattttttcatcc	0.373													14	482	---	---	---	---					
UBR5	51366	broad.mit.edu	37	8	103289349	103289349	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:103289349delT	ENST00000520539.1	-	45	6966	c.6360delA	c.(6358-6360)aafs	p.K2120fs	UBR5_ENST00000220959.4_Frame_Shift_Del_p.K2120fs|UBR5_ENST00000521922.1_Frame_Shift_Del_p.K2114fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2120					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CTTCCCCTTCTTTTTTTTGCC	0.378													7	705	---	---	---	---					
OXR1	55074	broad.mit.edu	37	8	107704955	107704955	+	Splice_Site	DEL	G	G	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:107704955delG	ENST00000445937.1	+	7	786		c.e7-1		OXR1_ENST00000531443.1_Splice_Site|OXR1_ENST00000442977.2_Splice_Site|OXR1_ENST00000312046.6_Splice_Site|OXR1_ENST00000497705.1_Splice_Site|OXR1_ENST00000452423.2_Splice_Site|OXR1_ENST00000517566.2_Splice_Site	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1						cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAAAAAAAAGAATCCTGATG	0.348													7	356	---	---	---	---					
TRPS1	7227	broad.mit.edu	37	8	116426269	116426270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr8:116426269_116426270insT	ENST00000395715.3	-	7	4443_4444	c.3866_3867insA	c.(3865-3867)aggfs	p.R1289fs	TRPS1_ENST00000519076.1_Frame_Shift_Ins_p.R1030fs|TRPS1_ENST00000220888.5_Frame_Shift_Ins_p.R1276fs|TRPS1_ENST00000520276.1_Frame_Shift_Ins_p.R1280fs	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1276					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N1289fs*>6(1)|p.N1276fs*>6(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TAGGTTTTCCATTTTTTTCCAC	0.381									Langer-Giedion syndrome				81	632	---	---	---	---					
PTPLAD2	401494	broad.mit.edu	37	9	21007045	21007046	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:21007045_21007046insT	ENST00000495827.1	-	7	734_735	c.689_690insA	c.(688-690)aaafs	p.K230fs	PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	230	Poly-Lys.				fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TTCACATCTTCTTTTTTTTAAT	0.371													7	410	---	---	---	---					
GRHPR	9380	broad.mit.edu	37	9	37424907	37424908	+	Frame_Shift_Ins	INS	-	-	G	rs150805048		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:37424907_37424908insG	ENST00000607784.1	+	2	154_155	c.149_150insG	c.(148-150)gggfs	p.G50fs	GRHPR_ENST00000493368.1_3'UTR|GRHPR_ENST00000318158.6_Frame_Shift_Ins_p.G50fs			Q9UBQ7	GRHPR_HUMAN	glyoxylate reductase/hydroxypyruvate reductase	50					cellular nitrogen compound metabolic process|excretion|glyoxylate metabolic process	peroxisomal matrix	glycerate dehydrogenase activity|glyoxylate reductase (NADP) activity|hydroxypyruvate reductase activity|NAD binding|protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12				GBM - Glioblastoma multiforme(29;0.00687)		CGAGGTGTGGCGGGGGCCCACG	0.658													9	274	---	---	---	---					
LRRC37A5P	0	broad.mit.edu	37	9	114370698	114370698	+	RNA	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:114370698delA	ENST00000374304.1	-	0	506																											TTTTAGTGAGAAAAAAAAAAG	0.348													2	4	---	---	---	---					
TPRN	286262	broad.mit.edu	37	9	140087025	140087027	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr9:140087025_140087027delTCC	ENST00000409012.4	-	2	1928_1930	c.1842_1844delGGA	c.(1840-1845)gaa>ga	p.EE620del	TPRN_ENST00000321773.2_In_Frame_Del_p.EE559del	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	620	Glu-rich.				sensory perception of sound	stereocilium		p.E315delE(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcttcctcttcctcctcctcct	0.596													10	85	---	---	---	---					
SYT15	83849	broad.mit.edu	37	10	46969401	46969403	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:46969401_46969403delCAG	ENST00000374325.3	-	2	210_212	c.58_60delCTG	c.(58-60)del	p.L21del	SYT15_ENST00000374323.3_Intron|SYT15_ENST00000374321.4_In_Frame_Del_p.L21del|SYT15_ENST00000503753.1_In_Frame_Del_p.L21del	NM_181519.2	NP_852660.1	Q9BQS2	SYT15_HUMAN	synaptotagmin XV	21						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						CCCCGATCAACAGCAGCAGCAGC	0.631													10	214	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81072446	81072446	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:81072446delC	ENST00000334512.5	+	25	3716	c.3144delC	c.(3142-3144)gafs	p.D1048fs	ZMIZ1_ENST00000446377.2_Frame_Shift_Del_p.D114fs	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1048					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CTTATCTGGACCCCCCCGACC	0.557													8	943	---	---	---	---					
PDZD7	79955	broad.mit.edu	37	10	102789811	102789811	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:102789811delG	ENST00000370215.3	-	2	391	c.166delC	c.(166-168)gcfs	p.R56fs	PDZD7_ENST00000470414.1_Frame_Shift_Del_p.R56fs	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	56						cilium|nucleus	protein binding	p.R56C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CGGATTCCGCGGGGGGGCCCG	0.667													8	493	---	---	---	---					
ADD3	120	broad.mit.edu	37	10	111893350	111893350	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr10:111893350delA	ENST00000277900.8	+	14	2364	c.1999delA	c.(1999-2001)aafs	p.K669fs	ADD3_ENST00000360162.3_Frame_Shift_Del_p.K669fs|ADD3_ENST00000356080.4_Frame_Shift_Del_p.K701fs	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	701						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GAAAAAGAACAAAAAAAAGGA	0.333													7	571	---	---	---	---					
RTN3	10313	broad.mit.edu	37	11	63525788	63525788	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr11:63525788delT	ENST00000354497.4	+	4	634	c.570delT	c.(568-570)gcfs	p.A190fs	RTN3_ENST00000356000.3_3'UTR|RTN3_ENST00000341307.2_3'UTR|RTN3_ENST00000339997.4_3'UTR|RTN3_ENST00000537981.1_3'UTR|RTN3_ENST00000377819.5_3'UTR|RTN3_ENST00000540798.1_3'UTR	NM_001265591.1	NP_001252520.1	O95197	RTN3_HUMAN	reticulon 3	0					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATTCCAAGCTTTTTTTTTAA	0.348													9	331	---	---	---	---					
GUCY2C	2984	broad.mit.edu	37	12	14774147	14774147	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:14774147delC	ENST00000261170.3	-	23	2741	c.2605delG	c.(2605-2607)aafs	p.E869fs		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	869	Guanylate cyclase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCGATGGTTTCCACCTGTGGA	0.433													31	390	---	---	---	---					
MYO1A	4640	broad.mit.edu	37	12	57422572	57422573	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:57422572_57422573insT	ENST00000442789.2	-	29	3385_3386	c.3098_3099insA	c.(3097-3099)aggfs	p.R1033fs	MYO1A_ENST00000544473.1_Frame_Shift_Ins_p.R871fs|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Frame_Shift_Ins_p.R1033fs	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1033					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.?(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						AATGACTCCCCTTTTTTTTGTA	0.559													8	615	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72038670	72038670	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:72038670delT	ENST00000378743.3	-	4	1624	c.1266delA	c.(1264-1266)aafs	p.K422fs		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	422					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TAGTGCTAACTTTTTTGGCCG	0.333													7	766	---	---	---	---					
GCN1L1	10985	broad.mit.edu	37	12	120595737	120595739	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:120595737_120595739delCTC	ENST00000300648.6	-	26	3013_3015	c.3001_3003delGAG	c.(3001-3003)del	p.E1001del		NM_006836.1	NP_006827.1	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1001					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGCCATCCACTCCTCCTCCTCC	0.631													8	302	---	---	---	---					
STX2	2054	broad.mit.edu	37	12	131285957	131285958	+	Splice_Site	DEL	CA	CA	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr12:131285957_131285958delCA	ENST00000261653.6	-	7	704		c.e7+1		STX2_ENST00000392373.2_Splice_Site	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2						acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CACCCCCACTCACGTCGGAAGT	0.505													13	312	---	---	---	---					
IL25	0	broad.mit.edu	37	14	23845057	23845058	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:23845057_23845058delTG	ENST00000329715.2	+	2	760_761	c.502_503delTG	c.(502-504)tfs	p.C168fs	IL25_ENST00000397242.2_Frame_Shift_Del_p.C152fs	NM_022789.3	NP_073626.1	Q9H293	IL25_HUMAN	interleukin 25	168					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		TTCCTTAGCTTGTGTGTGTGTG	0.604													15	524	---	---	---	---					
PTPN21	11099	broad.mit.edu	37	14	88940113	88940113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:88940113delT	ENST00000556564.1	-	14	2829	c.2545delA	c.(2545-2547)ttfs	p.I849fs	PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	849						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGAGGACCAATTTTTTTTGCA	0.393													11	554	---	---	---	---					
CHGA	1113	broad.mit.edu	37	14	93397924	93397926	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr14:93397924_93397926delGAG	ENST00000216492.5	+	6	965_967	c.685_687delGAG	c.(685-687)del	p.E236del	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	236					regulation of blood pressure	extracellular region|stored secretory granule				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		AAAGAGAgaagaggaggaggagg	0.645													12	150	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25328849	25328850	+	RNA	DEL	AG	AG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr15:25328849_25328850delAG	ENST00000546682.1	+	0	320				SNHG14_ENST00000549804.2_RNA	NR_003361.1																						ATCAGGGGCTAGAGAGAGAGAC	0.460													7	1015	---	---	---	---					
C16orf62	57020	broad.mit.edu	37	16	19580800	19580802	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:19580800_19580802delTCC	ENST00000438132.3	+	3	487_489	c.439_441delTCC	c.(439-441)del	p.S153del	C16orf62_ENST00000417362.2_In_Frame_Del_p.S64del|C16orf62_ENST00000251143.5_In_Frame_Del_p.S64del|C16orf62_ENST00000538853.1_In_Frame_Del_p.S153del|C16orf62_ENST00000542263.1_In_Frame_Del_p.S153del	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	64						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TTCTTCCACGTCCTCCTCCTCCT	0.562													7	244	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24807240	24807240	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:24807240delA	ENST00000395799.3	+	9	3670	c.3541delA	c.(3541-3543)aafs	p.K1182fs	TNRC6A_ENST00000315183.7_Frame_Shift_Del_p.K1182fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1182	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TCTGAGTGGCAAAAAAAGGAG	0.398													7	1138	---	---	---	---					
TAOK2	9344	broad.mit.edu	37	16	29998498	29998500	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:29998498_29998500delCTG	ENST00000308893.4	+	16	3948_3950	c.2905_2907delCTG	c.(2905-2907)del	p.L974del	TAOK2_ENST00000543033.1_In_Frame_Del_p.L861del|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000416441.2_In_Frame_Del_p.L801del	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	974	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						CCTGCCCCTCCTGCTGCTGCTGC	0.709													9	282	---	---	---	---					
FHOD1	29109	broad.mit.edu	37	16	67267852	67267852	+	Frame_Shift_Del	DEL	G	G	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:67267852delG	ENST00000258201.4	-	13	2001	c.1754delC	c.(1753-1755)ctfs	p.P587fs	FHOD1_ENST00000567687.1_Frame_Shift_Del_p.P166fs	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	587	FH1.|Poly-Pro.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.P585fs*43(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		AAGTGGGGGAGGGGGGGGTAC	0.622													11	86	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													7	336	---	---	---	---					
RNF43	54894	broad.mit.edu	37	17	56439980	56439980	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:56439980delT	ENST00000584437.1	-	5	2567	c.612delA	c.(610-612)acfs	p.T204fs	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000577625.1_Frame_Shift_Del_p.T77fs|RNF43_ENST00000500597.2_Frame_Shift_Del_p.T163fs|RNF43_ENST00000577716.1_Frame_Shift_Del_p.T204fs|RNF43_ENST00000407977.2_Frame_Shift_Del_p.T204fs|RNF43_ENST00000583753.1_Frame_Shift_Del_p.T163fs			Q68DV7	RNF43_HUMAN	ring finger protein 43	204						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCACCACTGTCATTAGGA	0.592													47	320	---	---	---	---					
LRRC37A16P	0	broad.mit.edu	37	17	66141017	66141017	+	RNA	DEL	C	C	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr17:66141017delC	ENST00000590019.1	-	0	70																											AAGATTTCTACAAAAAAAAAA	0.323													12	424	---	---	---	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:12986927_12986929delTCC	ENST00000399892.2	+	9	1238_1240	c.1137_1139delTCC	c.(1135-1140)ctt>ct	p.LP379del	SEH1L_ENST00000262124.11_3'UTR|RP11-773H22.4_ENST00000588211.1_RNA	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													9	296	---	---	---	---					
FHOD3	80206	broad.mit.edu	37	18	34261459	34261460	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:34261459_34261460delAG	ENST00000257209.4	+	12	1493_1494	c.1371_1372delAG	c.(1369-1374)gcagfs	p.AE457fs	FHOD3_ENST00000359247.4_Frame_Shift_Del_p.AE457fs|FHOD3_ENST00000445677.1_Frame_Shift_Del_p.AE419fs|FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000590592.1_Frame_Shift_Del_p.AE632fs	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	457					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CACTGGCAGCAGAGAGAGAGAG	0.460													14	335	---	---	---	---					
SMAD4	4089	broad.mit.edu	37	18	48591908	48591916	+	In_Frame_Del	DEL	TGGAGGAGA	TGGAGGAGA	-	rs121912576		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr18:48591908_48591916delTGGAGGAGA	ENST00000342988.3	+	9	1609_1617	c.1071_1079delTGGAGGAGA	c.(1069-1080)tct>tc	p.SGGD357del	SMAD4_ENST00000588745.1_In_Frame_Del_p.SGGD261del|SMAD4_ENST00000398417.2_In_Frame_Del_p.SGGD357del	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	357	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.G358*(4)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TGGACCCTTCTGGAGGAGATCGCTTTTGT	0.411													32	304	---	---	---	---					
GADD45GIP1	90480	broad.mit.edu	37	19	13065273	13065275	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:13065273_13065275delGCT	ENST00000316939.1	-	2	439_441	c.416_418delAGC	c.(415-420)cgg>c	p.QR139del		NM_052850.2	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	139	Poly-Gln.				cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						CAGTTCTCCCGCTGCTGCTGCTG	0.635													7	468	---	---	---	---					
FLT3LG	0	broad.mit.edu	37	19	49978960	49978962	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr19:49978960_49978962delCTG	ENST00000594009.1	+	2	125_127	c.46_48delCTG	c.(46-48)del	p.L20del	FLT3LG_ENST00000600429.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000596435.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000595510.1_5'UTR|FLT3LG_ENST00000204637.2_5'UTR|FLT3LG_ENST00000597551.1_In_Frame_Del_p.L20del|FLT3LG_ENST00000344019.3_In_Frame_Del_p.L20del|FLT3LG_ENST00000595815.1_3'UTR|CTD-3148I10.9_ENST00000599536.1_Intron	NM_001204503.1	NP_001191432.1	P49771	FLT3L_HUMAN	fms-related tyrosine kinase 3 ligand	20					positive regulation of cell proliferation|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity			large_intestine(2)|lung(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	10		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		CTATCTCCTCCTGCTGCTGCTGC	0.621													9	275	---	---	---	---					
DSTN	11034	broad.mit.edu	37	20	17581679	17581680	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr20:17581679_17581680insT	ENST00000246069.6	+	2	646_647	c.300_301insT	c.(298-303)atttttfs	p.IF100fs	DSTN_ENST00000543261.1_Frame_Shift_Ins_p.IF83fs|DSTN_ENST00000474024.1_3'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	100	ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AAGAGTTGATGTTTTTTTTGTG	0.356													8	491	---	---	---	---					
TPTEP1	0	broad.mit.edu	37	22	17131430	17131432	+	RNA	DEL	CAC	CAC	-	rs142037179		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458																											caccatccatcaccaacagaaac	0.443													3	3	---	---	---	---					
MED15	51586	broad.mit.edu	37	22	20918817	20918819	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chr22:20918817_20918819delCAG	ENST00000263205.7	+	6	601_603	c.532_534delCAG	c.(532-534)del	p.Q188del	MED15_ENST00000406969.1_In_Frame_Del_p.Q162del|MED15_ENST00000292733.7_In_Frame_Del_p.Q188del|MED15_ENST00000541476.1_In_Frame_Del_p.Q162del|MED15_ENST00000425759.2_In_Frame_Del_p.Q77del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000382974.2_In_Frame_Del_p.Q117del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	188	Poly-Gln.				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)			ggcggcgctacagcagcagcagc	0.626											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	156	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)del	p.E856del	CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													8	212	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	TCC	-	rs6614551		TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:50350711_50350713delTCC	ENST00000376020.2	-	6	3454_3456	c.3429_3431delGGA	c.(3427-3432)gaa>ga	p.EE1149del	SHROOM4_ENST00000289292.7_In_Frame_Del_p.EE1149del|SHROOM4_ENST00000460112.3_In_Frame_Del_p.EE1033del	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1149	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													11	68	---	---	---	---					
XIST	0	broad.mit.edu	37	X	73072090	73072091	+	RNA	INS	-	-	A			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:73072090_73072091insA	ENST00000429829.1	-	0	497_498					NR_001564.2																						ATGGGCTAAGGAAAAAAAAATA	0.465													7	139	---	---	---	---					
COL4A6	1288	broad.mit.edu	37	X	107430450	107430450	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A77Q-01A-11D-A36O-08	TCGA-HZ-A77Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b2d43659-5e8e-437d-80e0-3329a8d37921	861900ca-0f42-4b5a-a3ff-506380bc488d	g.chrX:107430450delT	ENST00000394872.2	-	23	2061	c.1830delA	c.(1828-1830)aafs	p.K610fs	COL4A6_ENST00000372216.4_Frame_Shift_Del_p.K610fs|COL4A6_ENST00000545689.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000538570.1_Frame_Shift_Del_p.K609fs|COL4A6_ENST00000334504.7_Frame_Shift_Del_p.K609fs			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	610	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAGGATGGCCTTTTTCACCAG	0.512									Alport syndrome with Diffuse Leiomyomatosis				9	947	---	---	---	---