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
GPC5	2262	broad.mit.edu	37	13	92101083	92101083	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr13:92101083C>G	ENST00000377067.3	+	2	604	c.232C>G	c.(232-234)Cag>Gag	p.Q78E		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	78						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GGAGAGATATCAGATTGCGGC	0.428000													25	43					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12126543	12126543	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:12126543G>C	ENST00000419886.2	-	5	1325	c.1034C>G	c.(1033-1035)tCa>tGa	p.S345*	CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|ZNF433_ENST00000344980.6_Nonsense_Mutation_p.S380*			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						TGTTTGAAGTGAACTGGGAGA	0.373000													16	37					0	0	1	0	0
SMAD4	4089	broad.mit.edu	37	18	48593467	48593467	+	Silent	SNP	G	G	T	rs145097078		TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr18:48593467G>T	ENST00000342988.3	+	10	1756	c.1218G>T	c.(1216-1218)gcG>gcT	p.A406A	SMAD4_ENST00000398417.2_Silent_p.A406A|SMAD4_ENST00000588745.1_Silent_p.A310A	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	406	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.?(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)		GTGACCACGCGGTCTTTGTAC	0.433000													20	16					0.000175454	0.000183765	1	1	0
LCT	3938	broad.mit.edu	37	2	136570336	136570336	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:136570336T>A	ENST00000264162.2	-	7	1908	c.1898A>T	c.(1897-1899)cAc>cTc	p.H633L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	633	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AAAGACGGGGTGTGCAAACCA	0.582000													4	13					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27101317	27101317	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:27101317G>A	ENST00000324856.7	+	18	4970	c.4599G>A	c.(4597-4599)ctG>ctA	p.L1533L	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Silent_p.L1150L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1533					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ATGAAATGCTGCACACAGATC	0.607000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								13	23					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938551	76938551	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chrX:76938551C>T	ENST00000373344.5	-	9	2411	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	ATRX_ENST00000395603.3_Missense_Mutation_p.E695K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	733					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)	GCTAGCATTTCATCAGAATCT	0.348000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						157	16					0	0	1	0	0
COPS4	51138	broad.mit.edu	37	4	83987699	83987699	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr4:83987699C>T	ENST00000509093.1	+	8	1773	c.995C>T	c.(994-996)gCa>gTa	p.A332V	COPS4_ENST00000264389.2_Missense_Mutation_p.A332V|COPS4_ENST00000503682.1_Missense_Mutation_p.A364V|COPS4_ENST00000511653.1_Missense_Mutation_p.A332V	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	332	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				GAGATCCCTGCAGCTAAGGTA	0.289000													18	20					0	0	1	0	0
MIER1	57708	broad.mit.edu	37	1	67450473	67450473	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:67450473A>G	ENST00000357692.2	+	15	1737	c.1480A>G	c.(1480-1482)Aaa>Gaa	p.K494E	MIER1_ENST00000401041.1_Missense_Mutation_p.K530E|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000355356.3_Missense_Mutation_p.K477E|MIER1_ENST00000371016.1_Intron|MIER1_ENST00000401042.3_Intron|MIER1_ENST00000371014.1_Intron|MIER1_ENST00000371018.3_Intron	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	501					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GAGACCTGCCAAAAGGCGAAG	0.378000													45	29					0	0	1	0	0
TSGA10IP	254187	broad.mit.edu	37	11	65714977	65714977	+	RNA	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:65714977G>A	ENST00000608857.1	+	0	681				TSGA10IP_ENST00000532620.1_RNA	NM_152762.2	NP_689975.2	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						AGGCCGAGAGGGGTCTGAGTT	0.657000													11	22					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024215	6024215	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:6024215G>A	ENST00000330728.4	-	1	209	c.164C>T	c.(163-165)tCt>tTt	p.S55F		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTGCTGGGAGATGCCATGTA	0.473000													10	15					0	0	1	0	0
ACTL6B	51412	broad.mit.edu	37	7	100246437	100246437	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr7:100246437G>A	ENST00000160382.5	-	6	583	c.477C>T	c.(475-477)aaC>aaT	p.N159N		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	159					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TGGACCGCCCGTTTGCAAAGC	0.612000													6	12					0	0	1	0	0
TSSC1	7260	broad.mit.edu	37	2	3197798	3197798	+	Missense_Mutation	SNP	C	C	T	rs149049035		TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:3197798C>T	ENST00000398659.4	-	8	1014	c.874G>A	c.(874-876)Gtg>Atg	p.V292M	TSSC1_ENST00000382125.4_Missense_Mutation_p.V265M|TSSC1_ENST00000478754.1_5'UTR			Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	265							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		AGGGTCTTCACGGGTTCGGTG	0.532000													6	20					0	0	1	0	0
RPUSD3	285367	broad.mit.edu	37	3	9883915	9883915	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr3:9883915G>A	ENST00000383820.5	-	3	276	c.275C>T	c.(274-276)aCg>aTg	p.T92M	RPUSD3_ENST00000485705.1_5'UTR|RPUSD3_ENST00000424438.1_Missense_Mutation_p.T60M|RPUSD3_ENST00000433535.2_Intron|TTLL3_ENST00000455274.1_Intron	NM_173659.3	NP_775930.2	Q6P087	RUSD3_HUMAN	RNA pseudouridylate synthase domain containing 3	92					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			central_nervous_system(2)|endometrium(3)|lung(2)	7	Medulloblastoma(99;0.227)					CTTGTTCAACGTCACTAGAGG	0.512000													53	40					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99250249	99250249	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr7:99250249C>T	ENST00000343703.5	-	12	1536	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	CYP3A5_ENST00000222982.4_Missense_Mutation_p.V394M|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					GGAATCACCACCATTGACCCT	0.453000													39	14					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233515349	233515349	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:233515349C>T	ENST00000366624.3	+	9	2858	c.2597C>T	c.(2596-2598)cCg>cTg	p.P866L	MLK4_ENST00000366622.1_Missense_Mutation_p.P312L	NM_032435.2	NP_115811.2																					AGAAACTTGCCGTCTTCCTTC	0.493000													19	11					0	0	1	0	0
NUP205	23165	broad.mit.edu	37	7	135307615	135307615	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr7:135307615G>A	ENST00000285968.6	+	31	4447	c.4421G>A	c.(4420-4422)gGc>gAc	p.G1474D		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1474					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAAGTTATGGCGCCGCCCTC	0.398000													13	39					0	0	1	0	0
ASCC3	10973	broad.mit.edu	37	6	101127582	101127582	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:101127582A>G	ENST00000369162.2	-	14	2542	c.2198T>C	c.(2197-2199)aTg>aCg	p.M733T		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	733	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TATTAGAGACATAGCTGTTCT	0.338000													5	74					0	0	1	0	0
TCFL5	10732	broad.mit.edu	37	20	61485440	61485440	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr20:61485440C>T	ENST00000335351.3	-	5	1400	c.1308G>A	c.(1306-1308)aaG>aaA	p.K436K	TCFL5_ENST00000217162.5_Silent_p.K388K	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	436	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GAGTTGTGGCCTTGTCAGTCT	0.463000													9	41					0	0	1	0	0
OR51M1	390059	broad.mit.edu	37	11	5410783	5410783	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:5410783C>T	ENST00000328611.3	+	1	177	c.155C>T	c.(154-156)tCa>tTa	p.S52L	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	52						integral to membrane	olfactory receptor activity	p.S52L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTGCCATCTCAGGCAATTGT	0.453000													9	24					0	0	1	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805637	20805637	+	RNA	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:20805637G>A	ENST00000577537.1	+	0	821				RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000417232.2_RNA																							CAGCGTAGACGACGACGAAGT	0.552000													28	24					0	0	1	0	0
LCA5	167691	broad.mit.edu	37	6	80228608	80228608	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:80228608C>T	ENST00000392959.1	-	3	615	c.4G>A	c.(4-6)Ggg>Agg	p.G2R	LCA5_ENST00000467898.3_Missense_Mutation_p.G2R|LCA5_ENST00000369846.4_Missense_Mutation_p.G2R	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	2					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		GCTCTTTCCCCCATTGTTTTG	0.383000													24	88					0	0	1	0	0
GFRA1	2674	broad.mit.edu	37	10	117823915	117823915	+	Silent	SNP	T	T	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr10:117823915T>A	ENST00000439649.3	-	10	1744	c.1377A>T	c.(1375-1377)acA>acT	p.T459T	GFRA1_ENST00000369236.1_Silent_p.T459T|GFRA1_ENST00000544592.1_Silent_p.T343T|GFRA1_ENST00000355422.6_Silent_p.T464T	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	464					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		GCAGCTATGATGTTTCTGTTA	0.403000													11	10					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800965	185800965	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:185800965C>T	ENST00000302277.6	+	4	1436	c.842C>T	c.(841-843)cCa>cTa	p.P281L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	281						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTTCATCCACCAGAGGCAATG	0.363000													13	27					0	0	1	0	0
OR4Q3	441669	broad.mit.edu	37	14	20216309	20216309	+	Silent	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr14:20216309T>C	ENST00000331723.1	+	1	723	c.723T>C	c.(721-723)tgT>tgC	p.C241C		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTACCTGTGCTTCTCACC	0.468000													20	18					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52198675	52198675	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr20:52198675G>C	ENST00000371471.2	-	2	1116	c.691C>G	c.(691-693)Cta>Gta	p.L231V	ZNF217_ENST00000302342.3_Missense_Mutation_p.L231V			O75362	ZN217_HUMAN	zinc finger protein 217	231					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)			TGCTCAATTAGACTTTCTTTA	0.517000													17	45					0	0	1	0	0
ZCCHC14	23174	broad.mit.edu	37	16	87451233	87451233	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr16:87451233C>T	ENST00000268616.4	-	8	1022	c.805G>A	c.(805-807)Ggc>Agc	p.G269S		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	269					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		AGGGCTGAGCCCGCGCTGCCC	0.682000													12	28					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70621439	70621439	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chrX:70621439A>G	ENST00000449580.1	+	25	3896	c.3845A>G	c.(3844-3846)tAt>tGt	p.Y1282C	TAF1_ENST00000423759.1_Missense_Mutation_p.Y1303C|TAF1_ENST00000373790.4_Missense_Mutation_p.Y1282C|TAF1_ENST00000276072.3_Missense_Mutation_p.Y1303C			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1282					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGCCCCCTCTATTATCAAACA	0.433000													27	4					0	0	1	0	0
HMGN2P46	283651	broad.mit.edu	37	15	45847806	45847806	+	RNA	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr15:45847806C>T	ENST00000409454.1	+	0	801																											CTAGACCGACCAAAGCCCGTG	0.502000													3	14					0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228336153	228336153	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:228336153C>T	ENST00000366718.1	+	7	984	c.557C>T	c.(556-558)tCt>tTt	p.S186F	GUK1_ENST00000366728.2_Intron|GUK1_ENST00000366722.1_Missense_Mutation_p.S184F|GUK1_ENST00000366716.1_Missense_Mutation_p.S186F|GUK1_ENST00000391865.3_Missense_Mutation_p.S207F|GUK1_ENST00000366726.1_Missense_Mutation_p.S186F|GUK1_ENST00000366723.1_3'UTR|GUK1_ENST00000470040.1_3'UTR|GUK1_ENST00000366730.1_Missense_Mutation_p.S186F|GUK1_ENST00000366721.1_Missense_Mutation_p.S188F|GUK1_ENST00000312726.4_Missense_Mutation_p.S186F	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1	186	Guanylate kinase-like.				nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				GAGGCGCTCTCTGAGGTGGGC	0.632000													4	5					0	0	1	0	0
TUBD1	51174	broad.mit.edu	37	17	57941183	57941183	+	Nonsense_Mutation	SNP	A	A	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:57941183A>C	ENST00000325752.3	-	8	1378	c.1101T>G	c.(1099-1101)taT>taG	p.Y367*	TUBD1_ENST00000592426.1_Nonsense_Mutation_p.Y367*|TUBD1_ENST00000376094.4_Nonsense_Mutation_p.Y265*|TUBD1_ENST00000539018.1_Nonsense_Mutation_p.Y151*|TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000340993.6_Nonsense_Mutation_p.Y312*|TUBD1_ENST00000346141.6_Nonsense_Mutation_p.Y113*	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	367					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			ACCAGGAAGTATACAGAGCTG	0.383000													6	22					0	0	1	0	0
CAT	847	broad.mit.edu	37	11	34475441	34475441	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:34475441G>A	ENST00000241052.4	+	6	768	c.679G>A	c.(679-681)Ggg>Agg	p.G227R		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	227					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TAATGCAAATGGGGAGGCAGT	0.433000													17	146					0	0	1	0	0
XPOT	11260	broad.mit.edu	37	12	64827251	64827251	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr12:64827251G>C	ENST00000332707.5	+	19	2849	c.2320G>C	c.(2320-2322)Gaa>Caa	p.E774Q		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	774	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TGCAATTTTTGAAGTGCTGCT	0.418000													74	69					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48245335	48245335	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:48245335G>A	ENST00000262018.3	+	4	376	c.340G>A	c.(340-342)Gat>Aat	p.D114N	SGCA_ENST00000513942.1_3'UTR|SGCA_ENST00000451235.2_Missense_Mutation_p.D12N|SGCA_ENST00000344627.6_Missense_Mutation_p.D114N|SGCA_ENST00000543315.1_Missense_Mutation_p.D114N	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	114					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GGACAGCTTTGATACCACTCG	0.592000													13	33					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171548	207171548	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:207171548C>T	ENST00000374423.3	+	5	2682	c.2296C>T	c.(2296-2298)Cat>Tat	p.H766Y		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	766							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGAGCAGTCTCATCTGGATGC	0.413000													48	41					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425832	57425832	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:57425832G>A	ENST00000371237.4	-	2	176	c.110C>T	c.(109-111)tCc>tTc	p.S37F	C8B_ENST00000535057.1_5'UTR|C8B_ENST00000494324.1_5'UTR|C8B_ENST00000543257.1_5'UTR	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	37					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TGACCCAAAGGAATGTGGCCT	0.418000													7	33					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73791126	73791126	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr7:73791126G>A	ENST00000223398.6	+	10	2722	c.2395G>A	c.(2395-2397)Gcc>Acc	p.A799T	CLIP2_ENST00000361545.5_Missense_Mutation_p.A764T|CLIP2_ENST00000395060.1_Missense_Mutation_p.A799T	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	799						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GGCGGTCGAGGCCCTGTGCTC	0.672000													3	5					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132425976	132425976	+	Silent	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr12:132425976G>T	ENST00000542167.2	+	4	1278	c.525G>T	c.(523-525)acG>acT	p.T175T	PUS1_ENST00000440818.2_Silent_p.T200T|PUS1_ENST00000535067.1_Intron|PUS1_ENST00000376649.3_Silent_p.T228T|PUS1_ENST00000443358.2_Silent_p.T200T			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	228						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		GCGCCGAGACGCTGCAGCAGG	0.612000													21	2					3.08376e-08	3.33516e-08	1	1	0
PARP8	79668	broad.mit.edu	37	5	50118184	50118184	+	Silent	SNP	C	C	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr5:50118184C>A	ENST00000281631.5	+	17	1968	c.1810C>A	c.(1810-1812)Cga>Aga	p.R604R	PARP8_ENST00000514342.2_Silent_p.R315R|PARP8_ENST00000505697.2_Silent_p.R604R|PARP8_ENST00000505554.1_Silent_p.R583R|PARP8_ENST00000503750.2_Silent_p.R562R|PARP8_ENST00000514067.2_Silent_p.R562R|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	604						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAACTATGATCGAGTAATGAA	0.303000													26	43					1.26454e-06	1.36024e-06	1	1	0
GKN2	200504	broad.mit.edu	37	2	69172542	69172542	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:69172542C>T	ENST00000328895.4	-	6	621	c.513G>A	c.(511-513)ctG>ctA	p.L171L	GKN2_ENST00000481498.1_3'UTR	NM_182536.2	NP_872342.2	Q86XP6	GKN2_HUMAN	gastrokine 2	171						extracellular region		p.L171L(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						CCAAGATGCCCAGGAGCCCAG	0.368000													30	56					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181732633	181732633	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:181732633G>A	ENST00000526775.1	+	33	4889	c.4724G>A	c.(4723-4725)cGc>cAc	p.R1575H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1545H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1201H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1526H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1575H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1594H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1594H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1594					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R1594H(2)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TATACCATACGCATTTTGCTG	0.512000													33	11					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57588202	57588202	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr12:57588202C>T	ENST00000243077.3	+	49	8450	c.7984C>T	c.(7984-7986)Cgg>Tgg	p.R2662W		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2662	LDL-receptor class A 14.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCCCTGCGAGCGGACCTCACT	0.662000													44	8					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92533569	92533569	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:92533569C>T	ENST00000298047.6	+	9	7407	c.7390C>T	c.(7390-7392)Ctg>Ttg	p.L2464L	FAT3_ENST00000525166.1_Silent_p.L2314L|FAT3_ENST00000409404.2_Silent_p.L2464L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2464	Cadherin 22.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GATGGAGCCTCTGTACAGTCT	0.488000										TCGA Ovarian(4;0.039)			10	18					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544628	23544628	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:23544628T>C	ENST00000300619.7	-	4	1358	c.1153A>G	c.(1153-1155)Aaa>Gaa	p.K385E	ZNF91_ENST00000397082.2_Missense_Mutation_p.K353E|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	385						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TTAAAAGCTTTGTCACATTCT	0.348000													22	46					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131797	40131797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:40131797G>A	ENST00000235628.1	-	2	246	c.247C>T	c.(247-249)Cag>Tag	p.Q83*		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	83					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGTTCCAGCTGGTAGCGCACG	0.582000													6	17					0	0	1	0	0
EXOC2	55770	broad.mit.edu	37	6	633084	633084	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:633084G>A	ENST00000230449.4	-	3	287	c.152C>T	c.(151-153)aCg>aTg	p.T51M	EXOC2_ENST00000448181.3_Intron	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	51	IPT/TIG.				exocytosis|protein transport			p.T51K(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CCATTCTGCCGTCAGGAGGCA	0.403000													4	85					0	0	1	0	0
ISG20	3669	broad.mit.edu	37	15	89195441	89195441	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr15:89195441C>G	ENST00000306072.5	+	3	687	c.329C>G	c.(328-330)aCg>aGg	p.T110R	ISG20_ENST00000560741.1_Missense_Mutation_p.T110R|ISG20_ENST00000560746.1_3'UTR	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	110					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			ATCTACGACACGTCCACTGAC	0.587000													7	20					0	0	1	0	0
LCN8	138307	broad.mit.edu	37	9	139649756	139649756	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr9:139649756C>T	ENST00000371688.3	-	5	656	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	144					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		TTCCAGAACCCCAGCCGGTCC	0.711000													14	7					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65793342	65793342	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:65793342C>T	ENST00000312106.5	-	1	646	c.509G>A	c.(508-510)gGt>gAt	p.G170D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	170	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GGAAGCCTCACCGTGGTGGGG	0.582000													8	22					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086363	56086363	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:56086363A>T	ENST00000312711.1	+	1	581	c.581A>T	c.(580-582)gAa>gTa	p.E194V		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AATACACATGAAATTGAATTG	0.343000													17	41					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	630957	630957	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr16:630957C>A	ENST00000321878.5	+	9	1675	c.1516C>A	c.(1516-1518)Ccc>Acc	p.P506T	PIGQ_ENST00000026218.5_Missense_Mutation_p.P506T|PIGQ_ENST00000409527.2_Missense_Mutation_p.P506T	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	506	Leu-rich.				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCTCTGCCGGCCCTACAGGCT	0.652000													9	21					0.000274275	0.000284275	1	1	0
ZNF423	23090	broad.mit.edu	37	16	49672639	49672639	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr16:49672639A>G	ENST00000561648.1	-	4	477	c.424T>C	c.(424-426)Ttc>Ctc	p.F142L	ZNF423_ENST00000563137.2_Missense_Mutation_p.F82L|ZNF423_ENST00000535559.1_Missense_Mutation_p.F25L|ZNF423_ENST00000562871.1_Missense_Mutation_p.F82L|ZNF423_ENST00000567169.1_Missense_Mutation_p.F25L|ZNF423_ENST00000262383.2_Missense_Mutation_p.F142L|ZNF423_ENST00000562520.1_Missense_Mutation_p.F82L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	142					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGTCGCAGAACTGGCAAGGG	0.597000													9	3					0	0	1	0	0
EXOC6B	23233	broad.mit.edu	37	2	72968484	72968484	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:72968484C>T	ENST00000272427.6	-	2	358	c.228G>A	c.(226-228)gtG>gtA	p.V76V	EXOC6B_ENST00000410104.1_Silent_p.V76V	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	76					protein transport|vesicle docking involved in exocytosis	exocyst		p.V76V(1)		breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						TTATAGAGTCCACAAAGCCCT	0.433000													50	37					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134988694	134988694	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chrX:134988694G>A	ENST00000535938.1	+	7	887	c.720G>A	c.(718-720)atG>atA	p.M240I	SAGE1_ENST00000370709.3_Missense_Mutation_p.M240I|SAGE1_ENST00000324447.3_Missense_Mutation_p.M240I|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	240										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TTTCACCCATGAGTACCAGGG	0.408000													64	9					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6686289	6686289	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:6686289C>T	ENST00000245907.6	-	29	3748	c.3656G>A	c.(3655-3657)cGc>cAc	p.R1219H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1219					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GTCCTCCCAGCGGTTCTTATC	0.542000													40	43					0	0	1	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14976434	14976434	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr10:14976434G>T	ENST00000453695.2	-	8	707	c.263C>A	c.(262-264)gCg>gAg	p.A88E	DCLRE1C_ENST00000378246.2_Missense_Mutation_p.A93E|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.A208E|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.A88E|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.A93E|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.A88E|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.A88E|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.A93E|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.A88E|DCLRE1C_ENST00000378278.2_Missense_Mutation_p.A208E	NM_001033855.1	NP_001029027.1	Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	208					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GCCATAAGCCGCTTTGCAGTT	0.423000								Non-homologous end-joining					57	7					2.2129e-31	2.56027e-31	1	1	0
UBA3	9039	broad.mit.edu	37	3	69105208	69105208	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr3:69105208C>T	ENST00000361055.4	-	16	1245	c.1191G>A	c.(1189-1191)atG>atA	p.M397I	CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000349511.4_Missense_Mutation_p.M383I|UBA3_ENST00000540295.1_Missense_Mutation_p.M220I|UBA3_ENST00000415609.2_Missense_Mutation_p.M356I	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	397	Interaction with UBE2M core domain.				protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CTGGAGATTTCATTTGCCTAA	0.264000													11	28					0	0	1	0	0
FKBP7	51661	broad.mit.edu	37	2	179330542	179330542	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:179330542G>A	ENST00000424785.2	-	4	682	c.624C>T	c.(622-624)ttC>ttT	p.F208F	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Silent_p.F207F	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	245	EF-hand 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TGGGAGAAATGAAGCCATCAC	0.313000													15	15					0	0	1	0	0
SEMA3D	223117	broad.mit.edu	37	7	84644468	84644468	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr7:84644468T>A	ENST00000284136.6	-	14	1653	c.1610A>T	c.(1609-1611)tAt>tTt	p.Y537F	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	537	PSI.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AGCTTTCCCATAAGTGTCGCA	0.468000													44	22					0	0	1	0	0
N4BP2L2	10443	broad.mit.edu	37	13	33110833	33110833	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr13:33110833G>A	ENST00000267068.3	-	2	496	c.332C>T	c.(331-333)tCc>tTc	p.S111F	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000446957.2_Missense_Mutation_p.S111F	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	111										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATCGTCTGCGGATACTAATGG	0.408000													28	74					0	0	1	0	0
KCTD10	83892	broad.mit.edu	37	12	109907509	109907509	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr12:109907509C>A	ENST00000228495.6	-	2	309	c.28G>T	c.(28-30)Gtg>Ttg	p.V10L	KCTD10_ENST00000424763.2_5'UTR|KCTD10_ENST00000540411.1_Missense_Mutation_p.V7L	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	10					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.V10M(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GCTGAGCTCACCACACTTTCT	0.567000													27	1					2.12542e-12	2.36289e-12	1	1	0
EEF1DP3	196549	broad.mit.edu	37	13	32527085	32527085	+	RNA	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr13:32527085C>T	ENST00000428783.1	+	0	785																											GTGGAGCCCCCGGCCAAGAAG	0.602000													4	15					0	0	1	0	0
ACSL1	2180	broad.mit.edu	37	4	185697725	185697725	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr4:185697725G>A	ENST00000515030.1	-	7	994	c.669C>T	c.(667-669)atC>atT	p.I223I	ACSL1_ENST00000504900.1_Silent_p.I223I|ACSL1_ENST00000513317.1_Silent_p.I223I|ACSL1_ENST00000507295.1_Silent_p.I189I|ACSL1_ENST00000281455.2_Silent_p.I223I|ACSL1_ENST00000437665.3_Silent_p.I52I|ACSL1_ENST00000504342.1_Silent_p.I223I|ACSL1_ENST00000454703.2_Silent_p.I52I			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	223					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGACAACTATGATTTTAAGGC	0.483000													38	29					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967484	4967484	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:4967484G>A	ENST00000380373.2	-	1	872	c.847C>T	c.(847-849)Ctt>Ttt	p.L283F	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	283					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)		GGAGGTACAAGTAGGAGAACA	0.438000													27	20					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50058990	50058990	+	Silent	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr5:50058990T>C	ENST00000281631.5	+	7	590	c.432T>C	c.(430-432)taT>taC	p.Y144Y	PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Silent_p.Y144Y|PARP8_ENST00000505554.1_Silent_p.Y123Y|PARP8_ENST00000503750.2_Silent_p.Y144Y|PARP8_ENST00000514067.2_Silent_p.Y144Y|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	144						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				AGGTGAACTATGATGGGGAAC	0.408000													8	15					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584296	82584296	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr7:82584296T>A	ENST00000333891.9	-	5	6310	c.5973A>T	c.(5971-5973)caA>caT	p.Q1991H	PCLO_ENST00000423517.2_Missense_Mutation_p.Q1991H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						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						GTCTTATCTTTTGCTCTCTTC	0.373000													25	58					0	0	1	0	0
NEK5	341676	broad.mit.edu	37	13	52646135	52646135	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr13:52646135C>T	ENST00000355568.4	-	21	2008	c.1869G>A	c.(1867-1869)aaG>aaA	p.K623K		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	623							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTCCATGCTCCTTTACACATT	0.348000													17	1					0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30079970	30079970	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr16:30079970G>A	ENST00000566897.1	+	7	1480	c.328G>A	c.(328-330)Gac>Aac	p.D110N	ALDOA_ENST00000569798.1_Missense_Mutation_p.D110N|ALDOA_ENST00000563060.2_Missense_Mutation_p.D110N|ALDOA_ENST00000564546.1_Missense_Mutation_p.D110N|ALDOA_ENST00000395248.1_Missense_Mutation_p.D164N|ALDOA_ENST00000395240.3_Missense_Mutation_p.D110N|ALDOA_ENST00000569545.1_Missense_Mutation_p.D110N|ALDOA_ENST00000564595.2_Missense_Mutation_p.D164N|ALDOA_ENST00000412304.2_Missense_Mutation_p.D110N|ALDOA_ENST00000338110.5_Missense_Mutation_p.D110N			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	110					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCAACAGGTAGACAAGGGCGT	0.547000													4	16					0	0	1	0	0
SLC44A2	57153	broad.mit.edu	37	19	10754004	10754004	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:10754004G>A	ENST00000335757.5	+	22	2440	c.2064G>A	c.(2062-2064)atG>atA	p.M688I	SLC44A2_ENST00000407327.4_Missense_Mutation_p.M686I|SLC44A2_ENST00000586078.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	688					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CTTACTTCATGTCTTCCACCC	0.607000													4	19					0	0	1	0	0
RNF208	727800	broad.mit.edu	37	9	140115097	140115097	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr9:140115097G>A	ENST00000392827.1	-	2	736	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	RNF208_ENST00000391553.1_Missense_Mutation_p.R190C			Q9H0X6	RN208_HUMAN	ring finger protein 208	190							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTCTCACGGCGGCAGGTGGGG	0.652000													10	2					0	0	1	0	0
GDPD4	220032	broad.mit.edu	37	11	76982212	76982212	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:76982212C>T	ENST00000315938.4	-	6	613	c.363G>A	c.(361-363)tgG>tgA	p.W121*	GDPD4_ENST00000376217.2_Nonsense_Mutation_p.W121*	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	121					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding	p.W121*(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						AGGCCACAGGCCAGAAAAGGA	0.478000													7	16					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473112	22473112	+	RNA	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr15:22473112C>T	ENST00000557788.2	-	0	158																											CCCAGCTCCACCAGTTACTAC	0.612000													14	64					0	0	1	0	0
CIRBP	1153	broad.mit.edu	37	19	1271439	1271439	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:1271439C>T	ENST00000444172.2	+	3	297	c.163C>T	c.(163-165)Cga>Tga	p.R55*	CIRBP_ENST00000588090.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000586472.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000589235.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000320936.5_Nonsense_Mutation_p.R108*|CIRBP_ENST00000589710.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000587896.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000587323.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000588230.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000589686.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000413636.2_Intron|CIRBP_ENST00000586773.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000588030.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000589660.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000585630.1_Nonsense_Mutation_p.R108*|CIRBP_ENST00000591935.1_Nonsense_Mutation_p.R108*			Q14011	CIRBP_HUMAN	cold inducible RNA binding protein	108	RRM.				mRNA stabilization|positive regulation of translation|response to cold|response to UV|stress granule assembly	nucleoplasm|stress granule	mRNA 3'-UTR binding|nucleotide binding|protein binding|SSU rRNA binding|translation repressor activity			endometrium(1)|large_intestine(1)|lung(3)	5		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000332)|all_lung(49;0.000498)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGGGGGCCGAGGACGGGG	0.637000													19	46					0	0	1	0	0
COL4A3BP	10087	broad.mit.edu	37	5	74715207	74715207	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr5:74715207T>C	ENST00000380494.5	-	7	1315	c.1022A>G	c.(1021-1023)gAt>gGt	p.D341G	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.D213G|COL4A3BP_ENST00000405807.4_Missense_Mutation_p.D213G	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	213					ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GAAGTCACCATCAGAACGCGT	0.308000													9	7					0	0	1	0	0
CD2AP	23607	broad.mit.edu	37	6	47471034	47471034	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:47471034A>G	ENST00000359314.5	+	2	479	c.23A>G	c.(22-24)tAt>tGt	p.Y8C		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	8	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATTGTGGAGTATGACTATGAT	0.328000													14	12					0	0	1	0	0
C19orf52	90580	broad.mit.edu	37	19	11040268	11040268	+	Missense_Mutation	SNP	G	G	T	rs139319173	byFrequency	TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:11040268G>T	ENST00000270502.6	+	2	763	c.673G>T	c.(673-675)Gat>Tat	p.D225Y		NM_138358.2	NP_612367.1	Q9BSF4	CS052_HUMAN	chromosome 19 open reading frame 52	225										prostate(1)	1						GCTCACCGACGATCAGGTGGA	0.652000													27	35					4.43304e-23	5.04099e-23	1	1	0
VEZT	55591	broad.mit.edu	37	12	95676322	95676322	+	Silent	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr12:95676322G>T	ENST00000436874.1	+	8	1335	c.1230G>T	c.(1228-1230)ccG>ccT	p.P410P	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Silent_p.P362P	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	410						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGTCAGTACCGCAGTGTTTAT	0.443000													39	57					1.07637e-12	1.20335e-12	1	1	0
C10orf11	83938	broad.mit.edu	37	10	77542779	77542779	+	Splice_Site	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr10:77542779A>G	ENST00000372499.1	+	1	261	c.46A>G	c.(46-48)Agg>Ggg	p.R16G	C10orf11_ENST00000593699.1_Intron	NM_032024.3	NP_114413.1	Q9H2I8	CJ011_HUMAN	chromosome 10 open reading frame 11	16										endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	10	Prostate(51;0.0095)|all_epithelial(25;0.0221)					TTCAAATAAAAGGTTAGCCAG	0.408000													9	14					0	0	1	0	0
DPF2	5977	broad.mit.edu	37	11	65113518	65113518	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:65113518G>A	ENST00000528416.1	+	8	1026	c.893G>A	c.(892-894)tGt>tAt	p.C298Y	DPF2_ENST00000252268.4_Missense_Mutation_p.C312Y|DPF2_ENST00000415073.2_Intron	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	298					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						TGTTCTGACTGTGGCCGCTCA	0.582000													36	26					0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60785403	60785403	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:60785403C>T	ENST00000313421.7	+	11	1941	c.1755C>T	c.(1753-1755)ccC>ccT	p.P585P	CD6_ENST00000352009.5_Silent_p.P553P|CD6_ENST00000452451.2_Silent_p.P544P|CD6_ENST00000346437.4_Silent_p.P512P|CD6_ENST00000344028.5_Silent_p.P553P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	585					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CATGGAACCCCCAGGTGTTTT	0.582000													18	27					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10409224	10409224	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:10409224G>A	ENST00000226207.5	-	19	2173	c.2079C>T	c.(2077-2079)gtC>gtT	p.V693V	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	693	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCTGATGCAGGACAAGCTCAT	0.488000													10	24					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183676361	183676361	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr4:183676361G>T	ENST00000511685.1	+	22	4964	c.4841G>T	c.(4840-4842)aGt>aTt	p.S1614I	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Missense_Mutation_p.S1614I					teneurin transmembrane protein 3																		CATGGCAATAGTGGCCTTTTA	0.333000													3	12					0.115264	0.116434	1	1	0
DAB2IP	153090	broad.mit.edu	37	9	124535337	124535337	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr9:124535337C>T	ENST00000408936.3	+	12	2712	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R720C|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R816C			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	844					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCTGTCACCCCGTGGCCTTGG	0.672000													13	9					0	0	1	0	0
TNNT1	7138	broad.mit.edu	37	19	55648496	55648496	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:55648496C>A	ENST00000588981.1	-	11	790	c.586G>T	c.(586-588)Gac>Tac	p.D196Y	TNNT1_ENST00000291901.8_Missense_Mutation_p.D196Y|TNNT1_ENST00000356783.5_Missense_Mutation_p.D185Y|TNNT1_ENST00000585321.2_Missense_Mutation_p.D126Y|TNNT1_ENST00000536926.1_Missense_Mutation_p.D185Y|TNNT1_ENST00000588426.1_Missense_Mutation_p.D93Y|TNNT1_ENST00000587758.1_Missense_Mutation_p.D185Y|TNNT1_ENST00000587465.2_Missense_Mutation_p.D126Y	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	196					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	p.D196H(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CCCATGTAGTCAATGTCCAGA	0.627000													9	17					2.17888e-05	2.30636e-05	1	1	0
ZNF202	7753	broad.mit.edu	37	11	123598842	123598842	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:123598842C>T	ENST00000336139.4	-	6	1193	c.831G>A	c.(829-831)ctG>ctA	p.L277L	ZNF202_ENST00000529691.1_Splice_Site_p.L277L|ZNF202_ENST00000530393.1_Splice_Site_p.L277L			O95125	ZN202_HUMAN	zinc finger protein 202	277	KRAB.				lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		ATTCCTTACACAGAGAGACAA	0.418000													11	28					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001721	41001721	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:41001721G>A	ENST00000244565.3	-	3	673	c.585C>T	c.(583-585)agC>agT	p.S195S	UNC5CL_ENST00000373164.1_Silent_p.S195S	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	195	Interaction with RELA and NFKB1.|ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TAGTGTTGCTGCTGTAGGTGC	0.647000													3	16					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241737137	241737137	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:241737137C>T	ENST00000498729.2	-	2	279	c.33G>A	c.(31-33)cgG>cgA	p.R11R	KIF1A_ENST00000320389.7_Silent_p.R11R	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	11	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGGGGCGGACCCGCACCGCCA	0.607000													4	2					0	0	1	0	0
RBM42	79171	broad.mit.edu	37	19	36122298	36122298	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:36122298C>T	ENST00000262633.4	+	4	538	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	RBM42_ENST00000589871.1_Missense_Mutation_p.R145W|RBM42_ENST00000360475.4_Missense_Mutation_p.R145W|RBM42_ENST00000588161.1_Missense_Mutation_p.R145W|RBM42_ENST00000592202.1_Intron|RBM42_ENST00000589559.1_Missense_Mutation_p.R145W|RBM42_ENST00000586618.1_Intron	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	145						cytoplasm|nucleus	nucleotide binding|RNA binding	p.R145W(1)		breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CATGTTCCTGCGGCGGGCAGG	0.567000													16	24					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145296373	145296373	+	Missense_Mutation	SNP	G	G	T	rs3969711		TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:145296373G>T	ENST00000342960.5	+	3	330	c.295G>T	c.(295-297)Gtt>Ttt	p.V99F	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	99								p.V99F(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TAAAGTCCTAGTTCACTCTCA	0.473000													4	154					0.248553	0.249808	1	1	0
F7	2155	broad.mit.edu	37	13	113771910	113771910	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr13:113771910G>A	ENST00000375581.3	+	8	840	c.805G>A	c.(805-807)Ggc>Agc	p.G269S	F7_ENST00000346342.3_Splice_Site_p.G247S|F7_ENST00000541084.1_Splice_Site_p.G200S	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	269	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CGCGGTGCTGGGTGGGTACCA	0.637000													12	41					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335655	141335655	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr5:141335655G>T	ENST00000231484.3	-	1	2972	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	588					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCACCAGCAGGTGGCCTGTG	0.597000													10	6					0.00136819	0.00140346	1	1	0
ZNF440	126070	broad.mit.edu	37	19	11941125	11941125	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:11941125G>A	ENST00000304060.5	+	2	195	c.31G>A	c.(31-33)Gtg>Atg	p.V11M		NM_152357.2	NP_689570.2	Q8IYI8	ZN440_HUMAN	zinc finger protein 440	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGATGTGGCTGTGAACTTCAC	0.498000													23	140					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169632246	169632246	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:169632246G>A	ENST00000366787.3	-	14	2229	c.1980C>T	c.(1978-1980)caC>caT	p.H660H	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	660	EGF-like 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCGCGTGCTTGTGGCAGTTGT	0.632000													22	22					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131955663	131955663	+	Silent	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr8:131955663G>C	ENST00000286355.5	-	4	3379	c.1287C>G	c.(1285-1287)acC>acG	p.T429T	ADCY8_ENST00000377928.3_Silent_p.T429T|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	429					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGCAGACAAGGTCGTGGAGA	0.453000										HNSCC(32;0.087)			10	11					0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6078430	6078430	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr12:6078430G>A	ENST00000261405.5	-	45	7930	c.7676C>T	c.(7675-7677)tCg>tTg	p.S2559L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2559					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.S2559L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGAAAGCCCGAGGGGCAGAC	0.592000													7	6					0	0	1	0	0
NLGN1	22871	broad.mit.edu	37	3	173997299	173997299	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr3:173997299C>T	ENST00000457714.1	+	6	1937	c.1508C>T	c.(1507-1509)gCa>gTa	p.A503V	NLGN1_ENST00000361589.4_Missense_Mutation_p.A503V|NLGN1_ENST00000401917.3_Missense_Mutation_p.A543V|NLGN1_ENST00000545397.1_Missense_Mutation_p.A503V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	520					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGGGCTGATGCAGCCCACGGA	0.473000													7	27					0	0	1	0	0
PRSS12	8492	broad.mit.edu	37	4	119256645	119256645	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr4:119256645G>A	ENST00000296498.3	-	3	1085	c.803C>T	c.(802-804)aCg>aTg	p.T268M		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	268	SRCR 1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAAGCTACACGTGACAGCAGC	0.393000													20	51					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67654639	67654639	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr16:67654639G>T	ENST00000264010.4	+	6	1570	c.1126G>T	c.(1126-1128)Gag>Tag	p.E376*	CTCF_ENST00000401394.1_Nonsense_Mutation_p.E48*	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	376					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TCATACTGGAGAGCGTCCGTT	0.448000													21	22					1.96895e-08	2.1411e-08	1	1	0
RDH8	50700	broad.mit.edu	37	19	10132349	10132349	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:10132349G>A	ENST00000591589.1	+	6	1109	c.920G>A	c.(919-921)cGc>cAc	p.R307H	RDH8_ENST00000171214.1_Missense_Mutation_p.R287H			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	287					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CTCCTCTTCCGCTGTCCACGC	0.622000													5	17					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110555912	110555912	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chrX:110555912G>A	ENST00000338081.3	-	6	1398	c.1227C>T	c.(1225-1227)ccC>ccT	p.P409P	DCX_ENST00000371993.2_Silent_p.P328P|DCX_ENST00000356915.2_Silent_p.P333P|DCX_ENST00000488120.1_Silent_p.P328P|DCX_ENST00000356220.3_Silent_p.P333P	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	409	Pro/Ser-rich.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GCGTAGAGATGGGAGACTGCT	0.488000													14	0					0	0	1	0	0
ZNF721	170960	broad.mit.edu	37	4	437993	437993	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr4:437993T>C	ENST00000338977.5	-	2	275	c.227A>G	c.(226-228)aAa>aGa	p.K76R	ZNF721_ENST00000511833.2_Missense_Mutation_p.K88R|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						ACTAAAAACTTTGACACGTGC	0.318000													13	20					0	0	1	0	0
CDC20	991	broad.mit.edu	37	1	43825014	43825014	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:43825014T>A	ENST00000372462.1	+	1	331	c.128T>A	c.(127-129)aTg>aAg	p.M43K	CDC20_ENST00000310955.6_Missense_Mutation_p.M43K			Q12834	CDC20_HUMAN	cell division cycle 20	43					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCCTCACCCATGCGGGCCGCC	0.657000													12	12					0	0	1	0	0
ENPP1	5167	broad.mit.edu	37	6	132203595	132203595	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:132203595C>T	ENST00000360971.2	+	21	2231	c.2211C>T	c.(2209-2211)taC>taT	p.Y737Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	737	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	p.Y685Y(2)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	AAGTGAGTTACGGGTTCCTCT	0.383000													38	29					0	0	1	0	0
SCPEP1	59342	broad.mit.edu	37	17	55065149	55065149	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:55065149A>G	ENST00000262288.3	+	4	464	c.409A>G	c.(409-411)Atg>Gtg	p.M137V	SCPEP1_ENST00000571898.1_3'UTR	NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	137					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GGACCTGGCTATGGTGGCTTC	0.493000													22	32					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139391836	139391836	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr9:139391836C>T	ENST00000277541.6	-	34	6430	c.6355G>A	c.(6355-6357)Gtg>Atg	p.V2119M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2119					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGCTGCGCACCAGGTTGTAC	0.692000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	19					0	0	1	0	0
KLHDC8B	200942	broad.mit.edu	37	3	49211830	49211830	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr3:49211830G>A	ENST00000332780.2	+	3	744	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	179						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAAGATCTATGTCCTGGGTAA	0.582000													5	15					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25327416	25327416	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr8:25327416C>T	ENST00000330560.3	+	7	1217	c.740C>T	c.(739-741)tCa>tTa	p.S247L	CDCA2_ENST00000380665.3_Missense_Mutation_p.S232L	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	247					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		CCCAAGATATCATCTAAACTT	0.328000													70	52					0	0	1	0	0
DCT	1638	broad.mit.edu	37	13	95121268	95121268	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr13:95121268G>C	ENST00000377028.5	-	2	740	c.327C>G	c.(325-327)tgC>tgG	p.C109W	DCT_ENST00000446125.1_Missense_Mutation_p.C109W	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	109					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		AGCCAAACTTGCAGTCTCCAC	0.463000													15	49					0	0	1	0	0
L3MBTL3	84456	broad.mit.edu	37	6	130399753	130399753	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:130399753A>G	ENST00000529410.1	+	16	1774	c.1295A>G	c.(1294-1296)cAt>cGt	p.H432R	L3MBTL3_ENST00000368136.2_Missense_Mutation_p.H432R|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.H407R|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.H407R|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.H407R|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.H432R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	432					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		TGTAAGGAACATAGAAGAACC	0.373000													17	77					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150835314	150835314	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr7:150835314G>A	ENST00000397238.2	+	12	1580	c.1580G>A	c.(1579-1581)gGg>gAg	p.G527E	AGAP3_ENST00000463381.1_Intron	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	491	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGCCCTGAGGGGCTGCACCAG	0.726000													5	7					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817833	7817833	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:7817833G>A	ENST00000329434.2	-	1	687	c.657C>T	c.(655-657)atC>atT	p.I219I	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAGGATGGTGATGAGGATAT	0.498000													8	24					0	0	1	0	0
FAM184A	79632	broad.mit.edu	37	6	119285899	119285899	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:119285899C>A	ENST00000338891.7	-	16	3514	c.3071G>T	c.(3070-3072)cGa>cTa	p.R1024L	FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000352896.5_Missense_Mutation_p.R855L|FAM184A_ENST00000368475.4_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1024										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						GTTAGTTTCTCGATTGACTAA	0.294000													8	14					5.4927e-09	6.03894e-09	1	1	0
MAP3K15	389840	broad.mit.edu	37	X	19387251	19387251	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chrX:19387251T>C	ENST00000338883.4	-	25	3486	c.3487A>G	c.(3487-3489)Acc>Gcc	p.T1163A	MAP3K15_ENST00000469203.2_Missense_Mutation_p.T995A|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.T598A	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1163							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CCAGGTCCGGTGGCTGGGGGA	0.612000													4	48					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52321900	52321900	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr8:52321900G>A	ENST00000356297.4	-	17	2384	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	PXDNL_ENST00000543296.1_Missense_Mutation_p.R762C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	762					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CGGGGCGCGCGGATGCCGTCC	0.791000													8	3					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51902194	51902194	+	Silent	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:51902194A>G	ENST00000268919.4	+	1	1956	c.1800A>G	c.(1798-1800)acA>acG	p.T600T		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	600					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGTTGAAACATTACCCACTC	0.428000													36	18					0	0	1	0	0
IL4R	3566	broad.mit.edu	37	16	27353500	27353500	+	Silent	SNP	T	T	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr16:27353500T>G	ENST00000395762.2	+	4	388	c.129T>G	c.(127-129)acT>acG	p.T43T	IL4R_ENST00000543915.2_Silent_p.T43T|IL4R_ENST00000449195.1_Silent_p.T43T|IL4R_ENST00000170630.2_Silent_p.T43T|IL4R_ENST00000380922.3_Silent_p.T28T	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	43					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GCATCTCTACTTGCGAGTGGA	0.577000													14	17					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64536777	64536777	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:64536777G>C	ENST00000377390.3	-	7	1034	c.697C>G	c.(697-699)Cca>Gca	p.P233A	SF1_ENST00000334944.5_Missense_Mutation_p.P233A|SF1_ENST00000377387.1_Missense_Mutation_p.P358A|SF1_ENST00000377394.3_Missense_Mutation_p.P233A|SF1_ENST00000227503.9_Missense_Mutation_p.P233A|SF1_ENST00000489544.1_5'UTR|SF1_ENST00000433274.2_Missense_Mutation_p.P207A|SF1_ENST00000422298.2_Missense_Mutation_p.P118A	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	233					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTCCTCTGGAGTCTCGATA	0.478000													12	30					0	0	1	0	0
TMEM117	84216	broad.mit.edu	37	12	44781841	44781841	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr12:44781841G>A	ENST00000266534.3	+	8	1058	c.931G>A	c.(931-933)Gtc>Atc	p.V311I	TMEM117_ENST00000536799.1_Missense_Mutation_p.V207I|TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_Silent_p.S267S	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	311						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		TATCTTCCTCGTCTTGATTTT	0.328000													4	30					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197777697	197777697	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:197777697C>T	ENST00000354764.4	-	4	672	c.558G>A	c.(556-558)ctG>ctA	p.L186L	PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Silent_p.L144L|PGAP1_ENST00000409475.1_Silent_p.L186L	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						TAAAATTTTTCAGTGTAAGCA	0.378000													17	22					0	0	1	0	0
GOLGA6B	55889	broad.mit.edu	37	15	72954612	72954612	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr15:72954612G>A	ENST00000421285.3	+	11	867	c.867G>A	c.(865-867)gcG>gcA	p.A289A		NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	289								p.A289A(1)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537000													3	21					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73850120	73850120	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr8:73850120C>T	ENST00000523207.1	+	3	3118	c.2530C>T	c.(2530-2532)Cct>Tct	p.P844S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	844					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGGGAGAGACCCTTTAAGAGA	0.522000													6	35					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61719260	61719260	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:61719260G>A	ENST00000401558.2	-	16	2524	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F	XPO1_ENST00000404992.2_Silent_p.F599F|XPO1_ENST00000406957.1_Silent_p.F599F	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	599	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			GAACCTGAACGAAATGCCTGC	0.358000			Mis		CLL								15	41					0	0	1	0	0
ZNF229	7772	broad.mit.edu	37	19	44933172	44933172	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:44933172G>A	ENST00000291187.4	-	6	2088	c.1766C>T	c.(1765-1767)aCg>aTg	p.T589M	ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000588931.1_Missense_Mutation_p.T595M	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	595					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CCTCTCTCCCGTGTGGACCCT	0.552000													25	23					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121292248	121292248	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr8:121292248G>A	ENST00000297848.3	+	29	3826	c.3556G>A	c.(3556-3558)Gca>Aca	p.A1186T	COL14A1_ENST00000309791.4_Missense_Mutation_p.A1186T|COL14A1_ENST00000247781.3_Missense_Mutation_p.A1091T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1186	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.A1186T(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAAGCCCAGCGCACGCCATGT	0.443000													10	60					0	0	1	0	0
FTSJ3	117246	broad.mit.edu	37	17	61899468	61899468	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:61899468G>A	ENST00000427159.2	-	14	1996	c.1351C>T	c.(1351-1353)Cca>Tca	p.P451S		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	451					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TCATCCCTTGGCAGATCGGAC	0.453000													17	36					0	0	1	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671336	31671336	+	Silent	SNP	C	C	T	rs137949815	byFrequency	TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr20:31671336C>T	ENST00000375483.3	+	3	333	c.333C>T	c.(331-333)tcC>tcT	p.S111S		NM_182519.2	NP_872325.2	P59827	LPLC4_HUMAN	BPI fold containing family B, member 4	111						cytoplasm|extracellular region	lipid binding										TCCTTGAGTCCGAGGGAAGCA	0.542000													18	27					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371698	55371698	+	Missense_Mutation	SNP	C	C	A	rs140943798	byFrequency	TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:55371698C>A	ENST00000302231.4	-	1	176	c.152G>T	c.(151-153)cGg>cTg	p.R51L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCCTAGTGTCCGGCTGGACTT	0.408000													19	36					1.33834e-09	1.47961e-09	1	1	0
KRT33B	3884	broad.mit.edu	37	17	39521101	39521101	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:39521101G>T	ENST00000251646.3	-	6	1076	c.1027C>A	c.(1027-1029)Ctg>Atg	p.L343M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	343	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)				CGCACGTCCAGCAGCACCTGA	0.637000													27	21					2.20474e-14	2.49285e-14	1	1	0
MPPED2	744	broad.mit.edu	37	11	30557632	30557632	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:30557632G>C	ENST00000448418.2	-	3	579	c.219C>G	c.(217-219)atC>atG	p.I73M	MPPED2_ENST00000358117.5_Missense_Mutation_p.I73M	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	73					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						AAGGCATCTGGATACCATCTG	0.507000													7	12					0	0	1	0	0
FFAR4	338557	broad.mit.edu	37	10	95335856	95335856	+	Silent	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr10:95335856G>T	ENST00000371483.4	+	2	632	c.576G>T	c.(574-576)tcG>tcT	p.S192S	FFAR4_ENST00000604414.1_Silent_p.S192S|FFAR4_ENST00000371481.4_Silent_p.S192S	NM_181745.3	NP_859529.2			free fatty acid receptor 4																		AGGAAATTTCGATTTGCACAC	0.433000													31	40					1.71298e-08	1.87298e-08	1	1	0
PLA2G4C	8605	broad.mit.edu	37	19	48601497	48601497	+	Missense_Mutation	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:48601497G>C	ENST00000354276.3	-	6	794	c.467C>G	c.(466-468)tCc>tGc	p.S156C	PLA2G4C_ENST00000599921.1_Missense_Mutation_p.S156C|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.S166C|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.S156C	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	156	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CTTCATATTGGACAAATGAGA	0.537000													15	23					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31295133	31295133	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr15:31295133G>A	ENST00000542188.1	-	27	4134	c.3821C>T	c.(3820-3822)gCg>gTg	p.A1274V	TRPM1_ENST00000256552.6_Missense_Mutation_p.A1257V|RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.A1235V	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1235					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GTCGATTCCCGCAAGATTTTC	0.468000													3	55					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	59014515	59014515	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr14:59014515A>T	ENST00000354386.6	+	34	5000	c.4756A>T	c.(4756-4758)Act>Tct	p.T1586S	KIAA0586_ENST00000261244.5_Silent_p.P1428P|KIAA0586_ENST00000556134.1_Silent_p.P1489P|KIAA0586_ENST00000423743.3_Silent_p.P1460P	NM_001244189.1	NP_001231118.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	0										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAGCAGTGCCACTCTCCGCTT	0.502000													6	13					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24750811	24750811	+	Missense_Mutation	SNP	T	T	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:24750811T>A	ENST00000336930.6	+	2	225	c.159T>A	c.(157-159)gaT>gaA	p.D53E	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	53						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GAGAACTTGATGGAATTAAAG	0.398000													18	18					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54306190	54306190	+	Nonsense_Mutation	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr15:54306190G>T	ENST00000545554.1	+	1	1090	c.1090G>T	c.(1090-1092)Gga>Tga	p.G364*	UNC13C_ENST00000260323.11_Nonsense_Mutation_p.G364*|UNC13C_ENST00000537900.1_Nonsense_Mutation_p.G364*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	364					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCAGAGGATAGGACACCAGAG	0.368000													8	19					0.000157383	0.00016571	1	1	0
IGHG4	3503	broad.mit.edu	37	14	106091475	106091475	+	RNA	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr14:106091475G>A	ENST00000390543.2	-	0	418																											CACCACGCACGTGACCTCAGG	0.592000													12	48					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86368219	86368219	+	Silent	SNP	T	T	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr13:86368219T>G	ENST00000400286.2	-	2	3023	c.2425A>C	c.(2425-2427)Agg>Cgg	p.R809R		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	809						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AATACCTTCCTTGGACGTGAG	0.398000													4	59					0	0	1	0	0
SMARCE1	6605	broad.mit.edu	37	17	38793753	38793753	+	Nonsense_Mutation	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:38793753G>C	ENST00000348513.6	-	5	1008	c.228C>G	c.(226-228)taC>taG	p.Y76*	SMARCE1_ENST00000578044.1_Nonsense_Mutation_p.Y6*|SMARCE1_ENST00000400122.3_Nonsense_Mutation_p.Y6*|SMARCE1_ENST00000544009.1_Nonsense_Mutation_p.Y6*|SMARCE1_ENST00000431889.2_Nonsense_Mutation_p.Y58*|SMARCE1_ENST00000580419.1_Nonsense_Mutation_p.Y41*|KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000377808.4_Nonsense_Mutation_p.Y41*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	76					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				CCTTTCTGCTGTACCTCATGT	0.453000													16	26					0	0	1	0	0
PCDHA6	56142	broad.mit.edu	37	5	140209203	140209203	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr5:140209203G>A	ENST00000529310.1	+	1	1641	c.1527G>A	c.(1525-1527)tcG>tcA	p.S509S	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Silent_p.S509S|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTACATTTCGGTGCACGCGG	0.697000													16	26					0	0	1	0	0
EIF3B	8662	broad.mit.edu	37	7	2412383	2412383	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr7:2412383C>A	ENST00000360876.4	+	12	1819	c.1763C>A	c.(1762-1764)tCt>tAt	p.S588Y	EIF3B_ENST00000397011.2_Missense_Mutation_p.S588Y	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	588					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity	p.S588F(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CCGCGGATATCTGTGTCTTTC	0.473000													16	50					1.3612e-06	1.44855e-06	1	1	0
ATXN2L	11273	broad.mit.edu	37	16	28842303	28842303	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr16:28842303A>G	ENST00000336783.4	+	10	1398	c.1231A>G	c.(1231-1233)Aag>Gag	p.K411E	ATXN2L_ENST00000395547.2_Missense_Mutation_p.K411E|ATXN2L_ENST00000564304.1_Missense_Mutation_p.K411E|ATXN2L_ENST00000340394.8_Missense_Mutation_p.K411E|ATXN2L_ENST00000325215.6_Missense_Mutation_p.K411E|ATXN2L_ENST00000382686.4_Missense_Mutation_p.K411E|ATXN2L_ENST00000570200.1_Missense_Mutation_p.K411E|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	411						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CATGTCCCCAAAGGCACAACG	0.493000													6	10					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	87217539	87217539	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr15:87217539G>A	ENST00000441037.2	+	22	3050	c.2955G>A	c.(2953-2955)atG>atA	p.M985I	AGBL1_ENST00000389298.3_Missense_Mutation_p.M716I|AGBL1_ENST00000421325.2_Missense_Mutation_p.M985I	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	985					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TGGAGGAGATGGGAGCCATGT	0.517000													5	3					0	0	1	0	0
POLM	27434	broad.mit.edu	37	7	44118382	44118382	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr7:44118382T>C	ENST00000242248.5	-	5	772	c.671A>G	c.(670-672)gAg>gGg	p.E224G	POLM_ENST00000395831.3_Missense_Mutation_p.E224G|POLM_ENST00000335195.6_Missense_Mutation_p.E224G	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	224					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						TCTCTCCACCTCCTCACACAC	0.602000								DNA polymerases (catalytic subunits)					7	25					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	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.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|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)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			44	7					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841481	100841481	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:100841481G>A	ENST00000369208.3	-	11	2234	c.1452C>T	c.(1450-1452)gcC>gcT	p.A484A	SIM1_ENST00000262901.4_Silent_p.A484A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	484	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GCTCCCTCCCGGCCTGCGGCG	0.612000													30	20					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44111567	44111567	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:44111567G>A	ENST00000262419.6	-	11	3096	c.2626C>T	c.(2626-2628)Cgc>Tgc	p.R876C	KANSL1_ENST00000393476.3_Missense_Mutation_p.R170C|KANSL1_ENST00000574590.1_Missense_Mutation_p.R876C|KANSL1_ENST00000575318.1_Missense_Mutation_p.R812C|KANSL1_ENST00000572904.1_Missense_Mutation_p.R876C|KANSL1_ENST00000432791.1_Missense_Mutation_p.R876C	NM_001193466.1	NP_001180395	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	876						MLL1 complex	protein binding										TTCTCTACGCGAGTTGTTGCA	0.448000													10	10					0	0	1	0	0
IL22RA2	116379	broad.mit.edu	37	6	137468932	137468932	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:137468932T>C	ENST00000296980.2	-	6	869	c.569A>G	c.(568-570)gAa>gGa	p.E190G	IL22RA2_ENST00000349184.4_Missense_Mutation_p.E158G|IL22RA2_ENST00000339602.3_Intron	NM_052962.2	NP_443194.1	Q969J5	I22R2_HUMAN	interleukin 22 receptor, alpha 2	190	Fibronectin type-III 3.		E -> K (in dbSNP:rs28362173).		regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TACATTTTTTTCCTTTTGGTA	0.299000													23	49					0	0	1	0	0
CPN2	1370	broad.mit.edu	37	3	194062459	194062459	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr3:194062459T>C	ENST00000323830.3	-	2	1062	c.973A>G	c.(973-975)Att>Gtt	p.I325V	CPN2_ENST00000429275.1_Missense_Mutation_p.I325V	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	325					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AGGTGGGTAATGGCATTGTAT	0.577000													5	14					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158655100	158655100	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:158655100G>T	ENST00000368147.4	-	2	242	c.62C>A	c.(61-63)gCa>gAa	p.A21E		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GATCTCTTCTGCTGTTTCCAA	0.468000													55	15					4.09106e-26	4.67886e-26	1	1	0
OR4A16	81327	broad.mit.edu	37	11	55111034	55111034	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:55111034C>T	ENST00000314721.2	+	1	408	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120C(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GGCCTATGATCGCTATGTGGC	0.463000													50	43					0	0	1	0	0
FRYL	285527	broad.mit.edu	37	4	48501604	48501604	+	Silent	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr4:48501604C>T	ENST00000358350.4	-	64	9481	c.8877G>A	c.(8875-8877)caG>caA	p.Q2959Q	FRYL_ENST00000507873.2_Silent_p.Q349Q|FRYL_ENST00000503238.1_Silent_p.Q2959Q|FRYL_ENST00000264319.7_Silent_p.Q349Q|FRYL_ENST00000537810.1_Silent_p.Q2959Q	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2959					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGCTTCCTGTCTGGCCCAGCG	0.438000													15	12					0	0	1	0	0
UNC5CL	222643	broad.mit.edu	37	6	41001769	41001769	+	Silent	SNP	G	G	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr6:41001769G>C	ENST00000244565.3	-	3	625	c.537C>G	c.(535-537)ctC>ctG	p.L179L	UNC5CL_ENST00000373164.1_Silent_p.L179L	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	179	ZU5.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTTTGAACGTGAGAGTGCAAG	0.652000													6	15					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78392226	78392226	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr14:78392226G>A	ENST00000238561.5	+	9	1227	c.1128G>A	c.(1126-1128)ttG>ttA	p.L376L	ADCK1_ENST00000341211.5_Silent_p.L308L|ADCK1_ENST00000556560.1_3'UTR	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	383	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TCTACCCCTTGTTTGCCTGCA	0.607000													24	52					0	0	1	0	0
OR4A16	81327	broad.mit.edu	37	11	55111035	55111035	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:55111035G>T	ENST00000314721.2	+	1	409	c.359G>T	c.(358-360)cGc>cTc	p.R120L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GCCTATGATCGCTATGTGGCT	0.468000													49	42					1.30409e-13	1.46618e-13	1	1	0
CEP170	9859	broad.mit.edu	37	1	243329214	243329214	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:243329214G>A	ENST00000366542.1	-	13	2099	c.2048C>T	c.(2047-2049)cCt>cTt	p.P683L	RP11-261C10.4_ENST00000437499.1_RNA|RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.P585L|CEP170_ENST00000366544.1_Missense_Mutation_p.P585L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	683						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TACCTGTGTAGGTGTTTCTTT	0.408000													15	22					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958479	53958479	+	RNA	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:53958479G>A	ENST00000454407.1	+	0	1171							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)		CCATTTAGCAGACAAATATAA	0.378000													31	84					0	0	1	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654275	46654275	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr22:46654275A>G	ENST00000253255.5	-	1	4944	c.4945T>C	c.(4945-4947)Tgg>Cgg	p.W1649R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1649					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TTGGTTGACCATGAAAGGTTT	0.418000													23	47					0	0	1	0	0
GLRA2	2742	broad.mit.edu	37	X	14622470	14622470	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chrX:14622470G>A	ENST00000218075.4	+	5	1058	c.528G>A	c.(526-528)ttG>ttA	p.L176L	GLRA2_ENST00000355020.4_Silent_p.L176L|GLRA2_ENST00000443437.2_Silent_p.L87L	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	176					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CCATGGACTTGAAGAACTTTC	0.388000													40	20					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88938792	88938792	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr9:88938792T>G	ENST00000375961.2	-	13	2087	c.1873A>C	c.(1873-1875)Aca>Cca	p.T625P	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.T502P|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000469004.1_5'UTR|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.T625P			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	625					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TACTTGTATGTTGTCCTTAAA	0.313000													5	33					0	0	1	0	0
UBE4B	10277	broad.mit.edu	37	1	10166611	10166611	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:10166611G>A	ENST00000343090.6	+	7	1241	c.1166G>A	c.(1165-1167)aGa>aAa	p.R389K	UBE4B_ENST00000377157.3_Intron|UBE4B_ENST00000253251.8_Intron	NM_001105562.2	NP_001099032.1	O95155	UBE4B_HUMAN	ubiquitination factor E4B	389					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GCCACGAGCAGACGCCCCTCC	0.607000													6	21					0	0	1	0	0
PSMA3	5684	broad.mit.edu	37	14	58738603	58738603	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr14:58738603A>G	ENST00000216455.4	+	11	848	c.758A>G	c.(757-759)gAt>gGt	p.D253G	RP11-349A22.5_ENST00000555275.1_RNA|PSMA3_ENST00000412908.2_Missense_Mutation_p.D246G|RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|PSMA3_ENST00000557508.1_Missense_Mutation_p.D178G|RP11-349A22.5_ENST00000554360.1_RNA	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	253					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						TCAGATGATGATAATATGTAA	0.318000													27	22					0	0	1	0	0
ZNF17	7565	broad.mit.edu	37	19	57932473	57932473	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:57932473A>T	ENST00000307658.7	+	4	1882	c.1619A>T	c.(1618-1620)aAc>aTc	p.N540I	ZNF17_ENST00000601808.1_Missense_Mutation_p.N538I|AC004076.7_ENST00000597410.1_Intron			P17021	ZNF17_HUMAN	zinc finger protein 17	538					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		TTTAGGCACAACTCAAATCAT	0.413000													26	37					0	0	1	0	0
FAM117B	150864	broad.mit.edu	37	2	203589705	203589705	+	Silent	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:203589705T>C	ENST00000303116.6	+	3	829	c.87T>C	c.(85-87)tcT>tcC	p.S29S	FAM117B_ENST00000392238.2_Silent_p.S273S	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	273	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GCTCAGCATCTTGGGGCAGTA	0.408000													27	18					0	0	1	0	0
GOLGA2	2801	broad.mit.edu	37	9	131030790	131030790	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr9:131030790T>C	ENST00000421699.2	-	3	233	c.221A>G	c.(220-222)aAt>aGt	p.N74S	GOLGA2_ENST00000609374.1_Missense_Mutation_p.N62S	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	74						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						AGTAGCAGCATTGTCCTTGGG	0.572000													4	4					0	0	1	0	0
NUP62	23636	broad.mit.edu	37	19	50412023	50412023	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr19:50412023C>T	ENST00000596217.1	-	2	2929	c.1042G>A	c.(1042-1044)Gag>Aag	p.E348K	IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000352066.3_Missense_Mutation_p.E348K|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000413454.1_Missense_Mutation_p.E348K|NUP62_ENST00000422090.2_Missense_Mutation_p.E348K|NUP62_ENST00000597029.1_Missense_Mutation_p.E348K|IL4I1_ENST00000341114.3_Intron			P37198	NUP62_HUMAN	nucleoporin 62kDa	348					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AAGTGCCGCTCCTGGTCCTCT	0.642000													13	66					0	0	1	0	0
GUCY1A3	2982	broad.mit.edu	37	4	156631759	156631759	+	Translation_Start_Site	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr4:156631759G>A	ENST00000393832.3	+	0	541				GUCY1A3_ENST00000511108.1_Missense_Mutation_p.D148N|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.D148N|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.D148N|GUCY1A3_ENST00000515602.1_3'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.D148N|GUCY1A3_ENST00000296518.7_Missense_Mutation_p.D148N|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.D148N	NM_001130685.2	NP_001124157.1	Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3						blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTACGAGGAAGATGAAAACAT	0.398000													17	48					0	0	1	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150123102	150123102	+	Splice_Site	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:150123102G>A	ENST00000369124.4	+	2	309	c.31G>A	c.(31-33)Gga>Aga	p.G11R	PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Splice_Site_p.G11R|PLEKHO1_ENST00000369126.1_5'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	11						cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCTGGGGCAGGGACCTCAGGA	0.622000													44	17					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148677883	148677883	+	Silent	SNP	T	T	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:148677883T>G	ENST00000241416.7	+	8	1683	c.1047T>G	c.(1045-1047)gcT>gcG	p.A349A	ACVR2A_ENST00000404590.1_Silent_p.A349A|ACVR2A_ENST00000535787.1_Silent_p.A241A	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	349	Protein kinase.				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)		AATTTGAGGCTGGCAAGTCTG	0.373000													9	40					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	56077124	56077124	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr10:56077124C>A	ENST00000373965.2	-	8	1177	c.783G>T	c.(781-783)ttG>ttT	p.L261F	PCDH15_ENST00000395432.2_Missense_Mutation_p.L224F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L239F|PCDH15_ENST00000373957.3_Missense_Mutation_p.L239F|PCDH15_ENST00000395430.1_Missense_Mutation_p.L261F|PCDH15_ENST00000395440.1_Missense_Mutation_p.L261F|PCDH15_ENST00000373955.1_Missense_Mutation_p.L261F|PCDH15_ENST00000437009.1_Missense_Mutation_p.L261F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L266F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L261F|PCDH15_ENST00000395442.1_Missense_Mutation_p.L261F|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395446.1_Missense_Mutation_p.L261F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L261F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L261F|PCDH15_ENST00000395438.1_Missense_Mutation_p.L261F	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	261	Cadherin 2.			L -> S (in Ref. 1; AAK31581).	equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACATTGGACCCAAGTCATCTC	0.478000										HNSCC(58;0.16)			13	27					1.3612e-06	1.44855e-06	1	1	0
TP53	7157	broad.mit.edu	37	17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:7578449C>T	ENST00000420246.2	-	5	613	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000269305.4_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000455263.2_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (in a sporadic cancer; 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.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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)		TTGTAGATGGCCATGGCGCGG	0.632000		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)			28	3					0	0	1	0	0
PCNXL3	399909	broad.mit.edu	37	11	65396367	65396367	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr11:65396367G>A	ENST00000355703.3	+	24	4428	c.3889G>A	c.(3889-3891)Gtc>Atc	p.V1297I		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1297						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGGCAGTGCCGTCTTCATCAT	0.632000													6	10					0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108483893	108483893	+	Silent	SNP	G	G	C	rs144295240	by1000genomes	TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr9:108483893G>C	ENST00000374688.1	+	3	893	c.183G>C	c.(181-183)tcG>tcC	p.S61S	TMEM38B_ENST00000374692.3_Silent_p.S115S			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	115						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						TACTGGCTTCGGGAATGAAGG	0.378000													33	13					0	0	1	0	0
RB1	5925	broad.mit.edu	37	13	49047507	49047507	+	Nonsense_Mutation	SNP	C	C	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr13:49047507C>A	ENST00000267163.4	+	24	2639	c.2501C>A	c.(2500-2502)tCa>tAa	p.S834*		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	834	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R830fs*8(1)|p.S834*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATCTTAGTATCAATTGGTGAA	0.259000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			47	9					1.38658e-30	1.59496e-30	1	1	0
TOX	9760	broad.mit.edu	37	8	59852047	59852047	+	Silent	SNP	A	A	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr8:59852047A>T	ENST00000361421.1	-	3	445	c.225T>A	c.(223-225)ccT>ccA	p.P75P		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	75						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				GGAGGGAAGGAGGAGTAATTG	0.463000													9	69					0	0	1	0	0
LRRC52	440699	broad.mit.edu	37	1	165513716	165513716	+	Silent	SNP	C	C	T	rs150814230		TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:165513716C>T	ENST00000294818.1	+	1	473	c.183C>T	c.(181-183)aaC>aaT	p.N61N	RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	61						integral to membrane		p.N61K(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TGTTCCTGAACGAGAACAGAA	0.473000													74	29					0	0	1	0	0
CXXC4	80319	broad.mit.edu	37	4	105412035	105412035	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr4:105412035C>T	ENST00000394767.2	-	2	1375	c.925G>A	c.(925-927)Ggg>Agg	p.G309R	AC093628.1_ENST00000606234.1_RNA|CXXC4_ENST00000426831.1_Missense_Mutation_p.G140R|CXXC4_ENST00000466963.1_Intron	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	140					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		ACGCAGACCCCACACCTTTTC	0.562000													26	30					0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30080179	30080179	+	Silent	SNP	G	G	A			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr16:30080179G>A	ENST00000566897.1	+	8	1572	c.420G>A	c.(418-420)aaG>aaA	p.K140K	ALDOA_ENST00000569798.1_Silent_p.K140K|ALDOA_ENST00000563060.2_Silent_p.K140K|ALDOA_ENST00000564546.1_Silent_p.K140K|ALDOA_ENST00000395248.1_Silent_p.K194K|ALDOA_ENST00000395240.3_Silent_p.K140K|ALDOA_ENST00000569545.1_Silent_p.K140K|ALDOA_ENST00000564595.2_Silent_p.K194K|ALDOA_ENST00000412304.2_Silent_p.K140K|ALDOA_ENST00000338110.5_Silent_p.K140K			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	140					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						AGTACAAGAAGGACGGAGCTG	0.582000											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	35					0	0	1	0	0
PAIP1	10605	broad.mit.edu	37	5	43543124	43543124	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr5:43543124C>G	ENST00000306846.3	-	4	948	c.716G>C	c.(715-717)cGc>cCc	p.R239P	PAIP1_ENST00000514514.1_Missense_Mutation_p.R160P|PAIP1_ENST00000436644.2_Missense_Mutation_p.R160P|PAIP1_ENST00000338972.4_Missense_Mutation_p.R127P	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	239	MIF4G.			R -> C (in Ref. 3; AAH15937).	mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TAGCAATTGGCGGAAGTTGCC	0.373000													5	75					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58441364	58441364	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr20:58441364A>G	ENST00000357552.3	-	41	4529	c.4304T>C	c.(4303-4305)tTg>tCg	p.L1435S	SYCP2_ENST00000371001.2_Missense_Mutation_p.L1435S			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1435					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTCCTTTTCCAAATCTTTTAA	0.249000													19	24					0	0	1	0	0
RP11-435B5.5	0	broad.mit.edu	37	1	143391923	143391924	+	RNA	DEL	AT	AT	-			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr1:143391923_143391924delAT	ENST00000428624.1	+	0	2065				RP11-435B5.4_ENST00000423249.1_lincRNA																							TATTTTGGAGATATATATATAT	0.262													3	4	---	---	---	---					
ASXL2	55252	broad.mit.edu	37	2	26029114	26029114	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:26029114delC	ENST00000435504.4	-	4	529	c.236delG	c.(235-237)ggafs	p.G79fs	ASXL2_ENST00000336112.4_Frame_Shift_Del_p.G51fs|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000497092.1_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTATATACTCCCATTCTACC	0.398													5	7	---	---	---	---					
PPM1B	5495	broad.mit.edu	37	2	44428930	44428931	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:44428930_44428931insT	ENST00000378551.2	+	2	1004_1005	c.592_593insT	c.(592-594)gtafs	p.V198fs	PPM1B_ENST00000409432.3_Frame_Shift_Ins_p.V198fs|PPM1B_ENST00000378540.4_3'UTR|PPM1B_ENST00000409895.4_Frame_Shift_Ins_p.V198fs|PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000282412.4_Frame_Shift_Ins_p.V198fs	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	198					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTCATTAGCAGTATCTCGTGCT	0.446													31	16	---	---	---	---					
GLI2	2736	broad.mit.edu	37	2	121708942	121708942	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr2:121708942delG	ENST00000452319.1	+	4	438	c.378delG	c.(376-378)atgfs	p.M126fs	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Frame_Shift_Del_p.M126fs|GLI2_ENST00000314490.11_5'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	126					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				ACCCCCACATGGAGCACTACC	0.647													15	23	---	---	---	---					
CNTN4	152330	broad.mit.edu	37	3	3076443	3076443	+	Frame_Shift_Del	DEL	A	A	-	rs6803232	byFrequency	TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr3:3076443delA	ENST00000397461.1	+	16	2295	c.1911delA	c.(1909-1911)ccafs	p.P637fs	CNTN4_ENST00000397459.2_Frame_Shift_Del_p.P309fs|CNTN4_ENST00000427331.1_Frame_Shift_Del_p.P637fs|CNTN4_ENST00000418658.1_Frame_Shift_Del_p.P637fs|CNTN4_ENST00000358480.3_Frame_Shift_Del_p.P418fs|CNTN4_ENST00000448906.2_Frame_Shift_Del_p.P309fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	637	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCAGGACTCCATTCTCCGTGG	0.532													20	27	---	---	---	---					
HBEGF	1839	broad.mit.edu	37	5	139722233	139722233	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr5:139722233delC	ENST00000230990.6	-	3	687	c.385delG	c.(385-387)gctfs	p.A129fs	HBEGF_ENST00000507104.1_Frame_Shift_Del_p.A129fs	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	129	EGF-like.				epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGAGGGAGCCCGGAGCTCC	0.522													31	43	---	---	---	---					
RRS1	23212	broad.mit.edu	37	8	67342408	67342409	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr8:67342408_67342409delGG	ENST00000320270.2	+	1	1146_1147	c.1042_1043delGG	c.(1042-1044)ggcfs	p.G348fs		NM_015169.3	NP_055984.1	Q15050	RRS1_HUMAN	RRS1 ribosome biogenesis regulator homolog (S. cerevisiae)	348	Arg/Gly/Lys-rich.				mitotic metaphase plate congression|ribosome biogenesis	condensed nuclear chromosome|nucleolus				kidney(2)|lung(2)	4		Lung NSC(129;0.197)	Epithelial(68;0.0391)|all cancers(69;0.0898)|BRCA - Breast invasive adenocarcinoma(89;0.111)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			TGGGCCGCCTGGCTTGGGTGGC	0.594													18	63	---	---	---	---					
KIF26A	26153	broad.mit.edu	37	14	104642398	104642398	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr14:104642398delT	ENST00000315264.7	+	11	3234	c.2856delT	c.(2854-2856)cctfs	p.P952fs	KIF26A_ENST00000423312.2_Frame_Shift_Del_p.P1091fs			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1091					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTCAGGCCCCTGAGGGGGGGC	0.677													2	4	---	---	---	---					
SLCO3A1	28232	broad.mit.edu	37	15	92671660	92671661	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr15:92671660_92671661delGT	ENST00000318445.6	+	7	1667_1668	c.1453_1454delGT	c.(1453-1455)gtgfs	p.V485fs	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Frame_Shift_Del_p.V485fs	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	485	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			CTTCACTCCAGTGTGTGGGGCA	0.569													21	43	---	---	---	---					
TADA2A	6871	broad.mit.edu	37	17	35818684	35818684	+	Frame_Shift_Del	DEL	A	A	-			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr17:35818684delA	ENST00000394395.2	+	9	836	c.663delA	c.(661-663)cgafs	p.R221fs	TADA2A_ENST00000591992.1_3'UTR|TADA2A_ENST00000586023.1_Frame_Shift_Del_p.R221fs|TADA2A_ENST00000417170.1_Frame_Shift_Del_p.R221fs|TADA2A_ENST00000225396.6_Frame_Shift_Del_p.R221fs	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	221					histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						GACAAAGACGAAAAAAGTAAG	0.358													14	22	---	---	---	---					
RUNX1	861	broad.mit.edu	37	21	36171672	36171672	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XF-AAN7-01A-11D-A42E-08	TCGA-XF-AAN7-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1aac6c0c-f19e-48d9-8513-1167fff05986	d466e5d7-5756-4fdc-a4b4-a46a6f74309e	g.chr21:36171672delG	ENST00000344691.4	-	5	2389	c.812delC	c.(811-813)ccafs	p.P271fs	RUNX1_ENST00000399240.1_Frame_Shift_Del_p.P207fs|RUNX1_ENST00000437180.1_Frame_Shift_Del_p.P298fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.P298fs|RUNX1_ENST00000325074.5_Frame_Shift_Del_p.P286fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	271	Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGCGTTGCTGGGTGCACAGA	0.512			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""								41	16	---	---	---	---					
