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
FER1L6	654463	broad.mit.edu	37	8	125072866	125072866	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:125072866C>G	ENST00000522917.1	+	24	3269	c.3063C>G	c.(3061-3063)tgC>tgG	p.C1021W	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.C1021W	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1021						integral to membrane		p.C1021C(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTGAGTGCGGAGGACAAG	0.547000													8	60					0	0	0.000157383	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249420	43249420	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr18:43249420C>T	ENST00000255226.6	+	16	3002	c.2186C>T	c.(2185-2187)tCc>tTc	p.S729F	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.S206F|SLC14A2_ENST00000586448.1_Missense_Mutation_p.S729F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	729						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGCCTGCATCCGCCATGCCC	0.547000													11	95					0	0	0.000978159	0	0
HS3ST1	9957	broad.mit.edu	37	4	11401343	11401343	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr4:11401343T>A	ENST00000002596.5	-	2	1461	c.287A>T	c.(286-288)tAc>tTc	p.Y96F		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	96						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCGTGGCTGTAATGCTCCTC	0.647000													16	66					0	0	0.00074312	0	0
TMCO3	55002	broad.mit.edu	37	13	114152835	114152835	+	Splice_Site	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr13:114152835C>T	ENST00000434316.2	+	3	982	c.624_splice	c.e3+1	p.S208_splice	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Splice_Site_p.S208_splice	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	208						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GACAATAAATCAGTAAGCGTT	0.408000													6	75					0	0	8.12818e-05	0	0
HAUS7	55559	broad.mit.edu	37	X	152734615	152734615	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:152734615C>A	ENST00000370219.3	-	2	800	c.243G>T	c.(241-243)tgG>tgT	p.W81C	TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.W81C|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.W71C|HAUS7_ENST00000421080.2_5'UTR|HAUS7_ENST00000370210.1_Missense_Mutation_p.W71C	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	81					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						GGGTACACATCCACTCTAGGA	0.552000													18	125					4.35082e-09	7.21032e-08	0.000175454	1	0
ORC2	4999	broad.mit.edu	37	2	201822819	201822819	+	Nonsense_Mutation	SNP	T	T	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:201822819T>A	ENST00000234296.2	-	3	277	c.28A>T	c.(28-30)Aag>Tag	p.K10*	ORC2_ENST00000467605.1_Intron	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	10					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	DNA replication origin binding|protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						TCCAGCATCTTGTCTTCCTTT	0.343000													6	63					0	0	8.12818e-05	0	0
CSMD3	114788	broad.mit.edu	37	8	113364700	113364700	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:113364700C>A	ENST00000297405.5	-	39	6444	c.6200G>T	c.(6199-6201)aGa>aTa	p.R2067I	CSMD3_ENST00000343508.3_Missense_Mutation_p.R2027I|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1963I|CSMD3_ENST00000352409.3_Missense_Mutation_p.R1997I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2067	Sushi 11.					integral to membrane|plasma membrane		p.R2067K(1)|p.R2027K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACCATATATCTGTCTCCAAT	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	89					7.48243e-07	1.15299e-05	0.000442599	1	0
MUC16	94025	broad.mit.edu	37	19	9048380	9048380	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr19:9048380G>T	ENST00000397910.4	-	5	33454	c.33251C>A	c.(33250-33252)gCt>gAt	p.A11084D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11086	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGTTGGAACAGCTGAGCTGGC	0.488000													6	82					0.000157383	0.00220588	0.000157383	1	0
KYNU	8942	broad.mit.edu	37	2	143799696	143799696	+	Silent	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:143799696C>G	ENST00000264170.4	+	14	1611	c.1353C>G	c.(1351-1353)acC>acG	p.T451T	KYNU_ENST00000409512.1_Silent_p.T451T	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	451					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ataaaTTTACCAATCTGCTCA	0.363000													3	30					0	0	6.4e-05	0	0
KIAA0586	9786	broad.mit.edu	37	14	58932631	58932631	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:58932631A>C	ENST00000423743.3	+	16	2264	c.2006A>C	c.(2005-2007)cAt>cCt	p.H669P	KIAA0586_ENST00000261244.5_Missense_Mutation_p.H637P|KIAA0586_ENST00000354386.6_Missense_Mutation_p.H766P|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.H698P	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	637										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAATGAAACATTCTGTTCCT	0.383000													25	105					0	0	0.000586117	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140769504	140769504	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr5:140769504G>C	ENST00000519479.1	+	1	2053	c.2053G>C	c.(2053-2055)Gag>Cag	p.E685Q	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCAGGCTGAGCTGCAGTT	0.617000													8	130					0	0	0.000274275	0	0
PCDH11X	27328	broad.mit.edu	37	X	91131897	91131897	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:91131897A>C	ENST00000373094.1	+	2	1503	c.658A>C	c.(658-660)Aag>Cag	p.K220Q	PCDH11X_ENST00000361724.1_Missense_Mutation_p.K220Q|PCDH11X_ENST00000504220.1_Missense_Mutation_p.K220Q|PCDH11X_ENST00000361655.2_Missense_Mutation_p.K220Q|PCDH11X_ENST00000373088.1_Missense_Mutation_p.K220Q|PCDH11X_ENST00000406881.1_Missense_Mutation_p.K220Q|PCDH11X_ENST00000373097.1_Missense_Mutation_p.K220Q|PCDH11X_ENST00000298274.8_Missense_Mutation_p.K220Q|PCDH11X_ENST00000395337.2_Missense_Mutation_p.K220Q	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	220	Cadherin 2.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GATGAAAGTAAAGGTTGAAGA	0.418000													4	143					0	0	0.00024832	0	0
GTPBP8	29083	broad.mit.edu	37	3	112710081	112710081	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:112710081G>C	ENST00000383677.3	+	1	250	c.235G>C	c.(235-237)Gcc>Ccc	p.A79P	GTPBP8_ENST00000383678.2_Missense_Mutation_p.A79P	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	79					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						GGAGGACATAGCCAGGGCGGA	0.632000													6	43					0	0	3.59834e-05	0	0
RHOG	391	broad.mit.edu	37	11	3849357	3849357	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:3849357G>C	ENST00000351018.4	-	2	169	c.12C>G	c.(10-12)atC>atG	p.I4M	RHOG_ENST00000396978.1_Missense_Mutation_p.I4M|RHOG_ENST00000396979.1_Missense_Mutation_p.I4M|RHOG_ENST00000533217.1_Missense_Mutation_p.I4M	NM_001665.3	NP_001656.2	P84095	RHOG_HUMAN	ras homolog family member G	4					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		CCACGCACTTGATGCTCTGCA	0.577000													4	19					0	0	0.00024832	0	0
PAPOLA	10914	broad.mit.edu	37	14	96993794	96993794	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:96993794C>T	ENST00000216277.8	+	5	579	c.359C>T	c.(358-360)gCa>gTa	p.A120V	PAPOLA_ENST00000392990.2_Missense_Mutation_p.A120V|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000557471.1_Missense_Mutation_p.A120V|PAPOLA_ENST00000557320.1_Missense_Mutation_p.A120V	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	120					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TTGTGTGTTGCACCAAGACAT	0.338000													7	54					0	0	0.000274275	0	0
SPTAN1	6709	broad.mit.edu	37	9	131370516	131370516	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr9:131370516C>G	ENST00000358161.5	+	34	4565	c.4452C>G	c.(4450-4452)atC>atG	p.I1484M	SPTAN1_ENST00000372731.4_Missense_Mutation_p.I1484M|SPTAN1_ENST00000372739.3_Missense_Mutation_p.I1484M			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1484					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGGCTCTGATCAAAAAACATG	0.493000													14	187					0	0	0.000422831	0	0
F13A1	2162	broad.mit.edu	37	6	6182302	6182302	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr6:6182302G>T	ENST00000264870.3	-	11	1643	c.1378C>A	c.(1378-1380)Cac>Aac	p.H460N		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	460					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCCCAATGTGGGTGGCATCC	0.413000													11	51					0.000151284	0.0021432	0.000151284	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64084971	64084971	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:64084971C>G	ENST00000295902.6	-	8	2876	c.2291G>C	c.(2290-2292)cGc>cCc	p.R764P	PRICKLE2-AS1_ENST00000476308.1_RNA|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.R820P	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	764						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GGGTCCCCAGCGGTCCCCAAA	0.597000													4	29					0	0	0.00024832	0	0
ITGAD	3681	broad.mit.edu	37	16	31419778	31419778	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr16:31419778C>G	ENST00000389202.2	+	10	1091	c.1042C>G	c.(1042-1044)Cac>Gac	p.H348D		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	348					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTCCTTCCAGCACGAGATGTC	0.562000													3	33					0	0	6.4e-05	0	0
CAD	790	broad.mit.edu	37	2	27449776	27449776	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:27449776C>T	ENST00000264705.4	+	15	2395	c.2233C>T	c.(2233-2235)Ctt>Ttt	p.L745F	CAD_ENST00000403525.1_Missense_Mutation_p.L682F	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	745	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCGATGGGACCTTAGCAAGTT	0.577000													19	111					0	0	0.000132079	0	0
KIAA0100	9703	broad.mit.edu	37	17	26961982	26961982	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:26961982C>T	ENST00000528896.2	-	16	2697	c.2623G>A	c.(2623-2625)Gag>Aag	p.E875K	KIAA0100_ENST00000544884.1_Missense_Mutation_p.E732K|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E732K	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	875						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GAGAAGTGCTCAACCTTTAAG	0.473000													14	280					0	0	0.000219431	0	0
RECK	8434	broad.mit.edu	37	9	36102158	36102158	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr9:36102158G>A	ENST00000377966.3	+	12	1932	c.1366G>A	c.(1366-1368)Gaa>Aaa	p.E456K		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	456						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CCACACAGCTGAAAGTATTTG	0.353000													6	86					0	0	3.59834e-05	0	0
FSTL1	11167	broad.mit.edu	37	3	120134836	120134836	+	Silent	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:120134836C>A	ENST00000295633.3	-	3	458	c.102G>T	c.(100-102)gtG>gtT	p.V34V	FSTL1_ENST00000424703.2_Intron	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	34	Follistatin-like.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		CTCCACAAAACACATTGGCAC	0.498000													6	106					1.12685e-05	0.000164958	0.000274275	1	0
TRIP11	9321	broad.mit.edu	37	14	92491704	92491704	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:92491704G>C	ENST00000267622.4	-	3	635	c.262C>G	c.(262-264)Caa>Gaa	p.Q88E		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	88					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGCTTTATTTGAATCTCTGAT	0.303000			T	PDGFRB	AML								3	67					0	0	0.00024832	0	0
OR2M2	391194	broad.mit.edu	37	1	248343825	248343825	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:248343825G>T	ENST00000359682.2	+	1	538	c.538G>T	c.(538-540)Gaa>Taa	p.E180*		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTTCTTCTGTGAATTCCCTTC	0.423000													15	127					2.23348e-06	3.38232e-05	0.000422831	1	0
USP5	8078	broad.mit.edu	37	12	6973060	6973060	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr12:6973060G>A	ENST00000229268.8	+	16	2073	c.2021G>A	c.(2020-2022)cGc>cAc	p.R674H	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_Missense_Mutation_p.R651H	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	674	UBA 1.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GACGCCTGCCGCAAAGCTGTC	0.587000													12	28					0	0	0.000219431	0	0
NHP2	55651	broad.mit.edu	37	5	177580545	177580545	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr5:177580545C>G	ENST00000274606.3	-	2	326	c.177G>C	c.(175-177)caG>caC	p.Q59H	NHP2_ENST00000314397.4_Missense_Mutation_p.Q59H	NM_017838.3	NP_060308.1	Q9NX24	NHP2_HUMAN	NHP2 ribonucleoprotein	59					rRNA pseudouridine synthesis	Cajal body|nucleolus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			endometrium(1)|kidney(1)|ovary(2)	4						CGCGCCGAATCTGCTTCTGCT	0.572000													10	125					0	0	0.000673444	0	0
SPEN	23013	broad.mit.edu	37	1	16256410	16256410	+	Silent	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:16256410C>T	ENST00000375759.3	+	11	3879	c.3675C>T	c.(3673-3675)agC>agT	p.S1225S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1225					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCCTCCTAGCAAAAAGAAAA	0.438000													8	61					0	0	0.000274275	0	0
PRR11	55771	broad.mit.edu	37	17	57278969	57278969	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:57278969A>T	ENST00000262293.4	+	10	1372	c.1060A>T	c.(1060-1062)Agc>Tgc	p.S354C	CTD-2510F5.6_ENST00000577660.1_Intron	NM_018304.3	NP_060774.2	Q96HE9	PRR11_HUMAN	proline rich 11	354										breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|pancreas(1)	16	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					ACTTTCTACAAGCAGCTTTGA	0.408000													16	61					0	0	0.00074312	0	0
KIAA0922	23240	broad.mit.edu	37	4	154547372	154547372	+	Silent	SNP	T	T	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr4:154547372T>C	ENST00000409663.3	+	30	4168	c.4116T>C	c.(4114-4116)aaT>aaC	p.N1372N	KIAA0922_ENST00000440693.1_Silent_p.N1289N|KIAA0922_ENST00000409959.3_Silent_p.N1373N	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1372						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				ACATCTGCAATCCCATGTAAG	0.343000													3	49					0	0	0.000602214	0	0
CASP8AP2	9994	broad.mit.edu	37	6	90578514	90578514	+	RNA	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr6:90578514G>C	ENST00000551025.1	+	0	6942							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		CTCACAAAAAGAGAAGAAACA	0.343000													3	23					0	0	6.4e-05	0	0
OR5A1	219982	broad.mit.edu	37	11	59210711	59210711	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:59210711C>A	ENST00000302030.2	+	1	95	c.70C>A	c.(70-72)Cca>Aca	p.P24T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CACAGACCATCCAGAACTCCA	0.532000													15	66					6.72482e-11	1.1735e-09	0.000308642	1	0
OR5A1	219982	broad.mit.edu	37	11	59210712	59210712	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:59210712C>A	ENST00000302030.2	+	1	96	c.71C>A	c.(70-72)cCa>cAa	p.P24Q		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACAGACCATCCAGAACTCCAG	0.527000													15	64					1.5739e-10	2.72843e-09	0.000422831	1	0
TP53	7157	broad.mit.edu	37	17	7578499	7578499	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:7578499T>A	ENST00000420246.2	-	5	563	c.431A>T	c.(430-432)cAg>cTg	p.Q144L	TP53_ENST00000413465.2_Missense_Mutation_p.Q144L|TP53_ENST00000445888.2_Missense_Mutation_p.Q144L|TP53_ENST00000359597.4_Missense_Mutation_p.Q144L|TP53_ENST00000455263.2_Missense_Mutation_p.Q144L|TP53_ENST00000269305.4_Missense_Mutation_p.Q144L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	144	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.0?(8)|p.Q144L(8)|p.Q144P(4)|p.Q144R(4)|p.Q144fs*25(3)|p.Q144del(2)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q51fs*25(1)|p.Q144K(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.P142_Q144delPVQ(1)|p.Q12fs*25(1)|p.V143_S149del(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)		AACCCACAGCTGCACAGGGCA	0.597000		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)			9	38					0	0	0.000442599	0	0
FRG1B	284802	broad.mit.edu	37	20	29628233	29628233	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr20:29628233A>G	ENST00000278882.3	+	6	615	c.235A>G	c.(235-237)Atg>Gtg	p.M79V	FRG1B_ENST00000358464.4_Missense_Mutation_p.M79V|FRG1B_ENST00000439954.2_Missense_Mutation_p.M84V																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TTAGGGGAAAATGGCTTTGTT	0.363000													3	62					0	0	0.00024832	0	0
SYNGR4	23546	broad.mit.edu	37	19	48869140	48869140	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr19:48869140A>C	ENST00000344846.2	+	2	291	c.41A>C	c.(40-42)gAa>gCa	p.E14A		NM_012451.3	NP_036583.2	O95473	SNG4_HUMAN	synaptogyrin 4	14						integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		GCCAACAGCGAAGCCGTGCAG	0.647000													3	81					0	0	6.4e-05	0	0
CLCA1	1179	broad.mit.edu	37	1	86951204	86951204	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:86951204G>C	ENST00000234701.3	+	7	1265	c.914G>C	c.(913-915)aGa>aCa	p.R305T	CLCA1_ENST00000394711.1_Missense_Mutation_p.R305T			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	305					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		ATTGGACAAAGAATTGTGTGT	0.453000													4	81					0	0	0.00024832	0	0
GSN	2934	broad.mit.edu	37	9	124076248	124076248	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr9:124076248G>A	ENST00000373823.3	+	14	1605	c.700G>A	c.(700-702)Gag>Aag	p.E234K	GSN_ENST00000412819.1_Missense_Mutation_p.E234K|GSN_ENST00000394353.2_Missense_Mutation_p.E245K|GSN_ENST00000436847.1_Missense_Mutation_p.E245K|GSN_ENST00000373808.2_Missense_Mutation_p.E234K|GSN_ENST00000449733.1_Missense_Mutation_p.E234K|GSN_ENST00000373807.1_Missense_Mutation_p.E16K|GSN_ENST00000545652.1_Missense_Mutation_p.E242K|GSN_ENST00000341272.2_Missense_Mutation_p.E234K|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373818.4_Missense_Mutation_p.E285K			P06396	GELS_HUMAN	gelsolin	285					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCAGGTACCGAGGACACCGC	0.632000													9	66					0	0	0.000442599	0	0
CACNG3	10368	broad.mit.edu	37	16	24268164	24268164	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr16:24268164C>A	ENST00000005284.3	+	1	1291	c.89C>A	c.(88-90)aCg>aAg	p.T30K		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	30					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		GCAGTGGGCACGGACTACTGG	0.448000													25	119					7.38237e-10	1.26315e-08	0.00106085	1	0
PLCL2	23228	broad.mit.edu	37	3	17053011	17053011	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:17053011G>T	ENST00000418129.2	+	2	2260	c.1795G>T	c.(1795-1797)Ggc>Tgc	p.G599C	PLCL2_ENST00000432376.1_Missense_Mutation_p.G599C|PLCL2_ENST00000396755.2_Missense_Mutation_p.G599C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	725					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CGGAAACTGTGGCTATGTCCT	0.488000													12	45					9.31168e-06	0.000137844	0.000151284	1	0
COL10A1	1300	broad.mit.edu	37	6	116442718	116442718	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr6:116442718C>G	ENST00000327673.4	-	2	968	c.561G>C	c.(559-561)caG>caC	p.Q187H	AL121963.1_ENST00000430695.1_Intron|NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.Q187H			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	187	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		TTTCCCCTTTCTGTCCATTCA	0.602000													5	35					0	0	0.000602214	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217303159	217303159	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:217303159T>A	ENST00000357276.4	+	10	1991	c.1661T>A	c.(1660-1662)cTc>cAc	p.L554H	SMARCAL1_ENST00000358207.5_Missense_Mutation_p.L554H	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	554	Helicase ATP-binding.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		TCTCACTTCCTCAAAAACAGT	0.468000									Schimke Immuno-Osseous Dysplasia				6	25					0	0	0.000442599	0	0
TOM1	10043	broad.mit.edu	37	22	35719782	35719782	+	Nonsense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr22:35719782C>T	ENST00000382034.5	+	7	664	c.322C>T	c.(322-324)Caa>Taa	p.Q108*	TOM1_ENST00000411850.1_Nonsense_Mutation_p.Q175*|TOM1_ENST00000449058.2_Nonsense_Mutation_p.Q175*|TOM1_ENST00000447733.1_Nonsense_Mutation_p.Q142*|TOM1_ENST00000425375.1_Nonsense_Mutation_p.Q130*|TOM1_ENST00000436462.2_Nonsense_Mutation_p.Q137*			O60784	TOM1_HUMAN	target of myb1 (chicken)	175	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CTCAGAGACACAATCAGGACA	0.597000													10	54					0	0	0.000673444	0	0
TEC	7006	broad.mit.edu	37	4	48178124	48178124	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr4:48178124G>T	ENST00000381501.3	-	3	375	c.218C>A	c.(217-219)cCc>cAc	p.P73H		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	73	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATTTTGACAGGGAATGACACC	0.373000													22	109					1.64113e-05	0.000237604	0.000175454	1	0
WDYHV1	55093	broad.mit.edu	37	8	124440236	124440236	+	Silent	SNP	T	T	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:124440236T>G	ENST00000287387.2	+	2	281	c.156T>G	c.(154-156)gcT>gcG	p.A52A	WDYHV1_ENST00000523356.1_Silent_p.A52A|WDYHV1_ENST00000517609.1_3'UTR|WDYHV1_ENST00000523984.1_5'UTR	NM_018024.1	NP_060494.1	Q96HA8	NTAQ1_HUMAN	WDYHV motif containing 1	52					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						AATGTTATGCTGTCTTCATAT	0.299000													16	296					0	0	0.00074312	0	0
PLCB4	5332	broad.mit.edu	37	20	9319651	9319651	+	Silent	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr20:9319651C>A	ENST00000378501.2	+	4	351	c.336C>A	c.(334-336)acC>acA	p.T112T	PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Silent_p.T112T|PLCB4_ENST00000334005.3_Silent_p.T112T|PLCB4_ENST00000278655.4_Silent_p.T112T|PLCB4_ENST00000414679.2_Silent_p.T112T|PLCB4_ENST00000378493.1_Silent_p.T112T	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	112					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTAGTTTTACCTACATGGTGG	0.408000													5	29					0.000602214	0.00801432	0.000602214	1	0
TMEM79	84283	broad.mit.edu	37	1	156255160	156255160	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:156255160G>C	ENST00000405535.2	+	2	314	c.143G>C	c.(142-144)aGa>aCa	p.R48T	TMEM79_ENST00000295694.5_Missense_Mutation_p.R48T|TMEM79_ENST00000357501.2_Intron|TMEM79_ENST00000495881.1_3'UTR	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	48						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GAGTCCCTCAGAGTGGGGTCT	0.627000													5	52					0	0	0.000602214	0	0
SLC45A3	85414	broad.mit.edu	37	1	205633646	205633646	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:205633646C>A	ENST00000367145.3	-	2	434	c.139G>T	c.(139-141)Ggg>Tgg	p.G47W		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	47					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCCTCTACCCCCACTTCCAGC	0.567000			T	"""ETV1, ETV5, ELK4, ERG"""	prostate								25	129					1.77063e-15	3.19563e-14	0.000878237	1	0
SEL1L	6400	broad.mit.edu	37	14	81964260	81964260	+	Silent	SNP	A	A	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:81964260A>G	ENST00000336735.4	-	10	1220	c.1104T>C	c.(1102-1104)gcT>gcC	p.A368A		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	368	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CACCTTTTTCAGCTAGGAACT	0.408000													3	44					0	0	6.4e-05	0	0
SCAF11	9169	broad.mit.edu	37	12	46320526	46320526	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr12:46320526C>G	ENST00000465950.1	-	1	3222	c.2013G>C	c.(2011-2013)aaG>aaC	p.K671N	SCAF11_ENST00000369367.3_Missense_Mutation_p.K986N|SCAF11_ENST00000549162.1_Missense_Mutation_p.K794N|SCAF11_ENST00000419565.2_Missense_Mutation_p.K986N			Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	986					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						CTGGGTCATTCTTTCTGTACC	0.398000													15	144					0	0	0.000308642	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72055435	72055435	+	Silent	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:72055435C>G	ENST00000555818.1	+	2	1194	c.846C>G	c.(844-846)ctC>ctG	p.L282L	SIPA1L1_ENST00000381232.3_Silent_p.L282L|SIPA1L1_ENST00000358550.2_Silent_p.L282L	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	282					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAAAACCACTCAAGCGACGTT	0.433000													5	47					0	0	0.000602214	0	0
ADAM23	8745	broad.mit.edu	37	2	207426992	207426992	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:207426992A>T	ENST00000264377.3	+	13	1648	c.1320A>T	c.(1318-1320)caA>caT	p.Q440H	ADAM23_ENST00000374416.1_Missense_Mutation_p.Q440H|ADAM23_ENST00000374415.3_Missense_Mutation_p.Q440H	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	440	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGGAATCCAATGGGAACCTT	0.413000													41	138					0	0	0.000374591	0	0
RBFOX1	54715	broad.mit.edu	37	16	7743333	7743333	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr16:7743333G>C	ENST00000547372.1	+	15	1447	c.1141G>C	c.(1141-1143)Gtt>Ctt	p.V381L	RBFOX1_ENST00000311745.5_Intron|RBFOX1_ENST00000422070.4_Intron|RBFOX1_ENST00000535565.2_Missense_Mutation_p.V295L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.V355L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.V359L|RBFOX1_ENST00000547338.1_Intron|RBFOX1_ENST00000436368.2_Intron|RBFOX1_ENST00000340209.4_Intron|RBFOX1_ENST00000550418.1_Intron|RBFOX1_ENST00000553186.1_Intron			Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	338					mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						GTTCGTCTTCGTTGCAGCAGA	0.403000													6	66					0	0	3.59834e-05	0	0
NUTM1	256646	broad.mit.edu	37	15	34640781	34640781	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr15:34640781G>A	ENST00000537011.1	+	3	1094	c.712G>A	c.(712-714)Gtt>Att	p.V238I	NUTM1_ENST00000333756.4_Missense_Mutation_p.V210I|NUTM1_ENST00000438749.3_Missense_Mutation_p.V228I					NUT midline carcinoma, family member 1																		TTCCAAGGACGTTTATGAGAA	0.532000													6	53					0	0	8.12818e-05	0	0
FNIP2	57600	broad.mit.edu	37	4	159772518	159772518	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr4:159772518C>G	ENST00000264433.6	+	8	848	c.773C>G	c.(772-774)tCc>tGc	p.S258C	FNIP2_ENST00000379346.3_Missense_Mutation_p.S281C	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	258	Ser-rich.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCTCCAAGCTCCTCTACATCT	0.448000													39	359					0	0	0.000509022	0	0
FRG1B	284802	broad.mit.edu	37	20	29625891	29625891	+	Silent	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr20:29625891C>G	ENST00000278882.3	+	5	515	c.135C>G	c.(133-135)ggC>ggG	p.G45G	FRG1B_ENST00000358464.4_Silent_p.G45G|FRG1B_ENST00000439954.2_Silent_p.G50G																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGAAATCTGGCTATGGAAAAT	0.343000													3	41					0	0	0.000602214	0	0
OBSCN	84033	broad.mit.edu	37	1	228466415	228466415	+	Silent	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:228466415G>T	ENST00000570156.2	+	31	8246	c.8172G>T	c.(8170-8172)ccG>ccT	p.P2724P	OBSCN_ENST00000359599.6_Silent_p.P1142P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.P2295P|OBSCN_ENST00000422127.1_Silent_p.P2295P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1722	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCGTGCGCCCGCTGCGGGACA	0.667000													8	45					2.27111e-07	3.54105e-06	0.00010058	1	0
RFC3	5983	broad.mit.edu	37	13	34399957	34399957	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr13:34399957C>G	ENST00000380071.3	+	4	455	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	RFC3_ENST00000434425.1_Missense_Mutation_p.Q109E	NM_002915.3	NP_002906.1	P40938	RFC3_HUMAN	replication factor C (activator 1) 3, 38kDa	109					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|response to organophosphorus|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			lung(2)|skin(1)	3		Hepatocellular(188;0.0191)|Lung SC(185;0.0548)		all cancers(112;5.09e-06)|Epithelial(112;6.52e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00107)|OV - Ovarian serous cystadenocarcinoma(117;0.0285)|GBM - Glioblastoma multiforme(144;0.123)		AGTAGTCATTCAGGAGATGTT	0.333000													4	26					0	0	0.00024832	0	0
FOXRED2	80020	broad.mit.edu	37	22	36886232	36886232	+	Silent	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr22:36886232C>G	ENST00000397224.4	-	9	1971	c.1878G>C	c.(1876-1878)gtG>gtC	p.V626V	FOXRED2_ENST00000216187.6_Silent_p.V626V|FOXRED2_ENST00000366463.3_Silent_p.V178V|FOXRED2_ENST00000397223.4_Silent_p.V626V	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	626					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCTCGGTACTCACGAGTCCCT	0.612000													11	135					0	0	0.000673444	0	0
TMPRSS9	360200	broad.mit.edu	37	19	2405397	2405397	+	Silent	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr19:2405397G>A	ENST00000332578.3	+	6	594	c.594G>A	c.(592-594)agG>agA	p.R198R		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	198					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTGCCTGGAGGATGGCCGGCA	0.627000													8	58					0	0	0.000274275	0	0
AIM1	202	broad.mit.edu	37	6	106968959	106968959	+	Silent	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr6:106968959G>T	ENST00000369066.3	+	2	3139	c.2652G>T	c.(2650-2652)ccG>ccT	p.P884P		NM_001624.2	NP_001615.1	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	884							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGGTGCCCCGCCCTGTGGTT	0.473000													13	84					2.27111e-07	3.54105e-06	0.00010058	1	0
CCNA1	8900	broad.mit.edu	37	13	37015312	37015312	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr13:37015312C>G	ENST00000418263.1	+	7	1503	c.1153C>G	c.(1153-1155)Ctg>Gtg	p.L385V	CCNA1_ENST00000255465.4_Missense_Mutation_p.L386V|CCNA1_ENST00000449823.1_Missense_Mutation_p.L342V|CCNA1_ENST00000440264.1_Missense_Mutation_p.L342V	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	386					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TCTTCCTTCACTGATAGCTGC	0.383000													3	50					0	0	0.000602214	0	0
NCOA7	135112	broad.mit.edu	37	6	126249891	126249891	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr6:126249891G>C	ENST00000368357.3	+	17	3155	c.2803G>C	c.(2803-2805)Gat>Cat	p.D935H	NCOA7_ENST00000229634.9_Missense_Mutation_p.D820H|NCOA7_ENST00000392477.2_Missense_Mutation_p.D935H	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	935	TLD.				cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATAGTTCAGGATCTGGAGGT	0.398000													8	86					0	0	0.000274275	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21542190	21542190	+	Missense_Mutation	SNP	C	C	T	rs148208165	byFrequency	TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:21542190C>T	ENST00000298694.4	+	3	428	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R101C			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	101					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						GCAACTGCTGCGCCCAGGAGA	0.632000													10	99					0	0	0.000673444	0	0
TENM1	10178	broad.mit.edu	37	X	123805647	123805647	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:123805647C>A	ENST00000422452.2	-	6	1117	c.1054G>T	c.(1054-1056)Gtt>Ttt	p.V352F	TENM1_ENST00000371130.3_Missense_Mutation_p.V352F	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		TCTCCTTCAACTGGTTGCAAC	0.458000													11	63					1.08611e-07	1.71371e-06	0.000978159	1	0
TAOK1	57551	broad.mit.edu	37	17	27849370	27849370	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:27849370G>C	ENST00000261716.3	+	17	2500	c.1981G>C	c.(1981-1983)Gaa>Caa	p.E661Q	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	661					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			ATCTATGCAAGAACTGGAGTT	0.418000													6	61					0	0	8.12818e-05	0	0
ZNF638	27332	broad.mit.edu	37	2	71653619	71653619	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:71653619A>C	ENST00000409544.1	+	24	5250	c.4620A>C	c.(4618-4620)gaA>gaC	p.E1540D	ZNF638_ENST00000409407.1_Missense_Mutation_p.E480D|ZNF638_ENST00000264447.4_Missense_Mutation_p.E1540D|ZNF638_ENST00000355812.3_Missense_Mutation_p.N1132T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1540					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATTTGGATGAATTTGTTACTG	0.343000													9	68					0	0	0.000151284	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													3	78					0	0	0.000602214	0	0
COL4A6	1288	broad.mit.edu	37	X	107464479	107464479	+	Silent	SNP	T	T	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:107464479T>C	ENST00000334504.7	-	4	503	c.270A>G	c.(268-270)aaA>aaG	p.K90K	COL4A6_ENST00000545689.1_Silent_p.K90K|COL4A6_ENST00000394872.2_Silent_p.K90K|COL4A6_ENST00000538570.1_Silent_p.K90K|COL4A6_ENST00000372216.4_Silent_p.K91K	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	91	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTATCTCCTTTTGGTCCAT	0.458000									Alport syndrome with Diffuse Leiomyomatosis				4	171					0	0	3.59834e-05	0	0
CMSS1	84319	broad.mit.edu	37	3	99895214	99895214	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:99895214G>C	ENST00000421999.2	+	9	857	c.711G>C	c.(709-711)tgG>tgC	p.W237C	CMSS1_ENST00000489081.1_Missense_Mutation_p.W219C	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		TTTTTGACTGGAACTGGAGAG	0.403000													3	46					0	0	6.4e-05	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146104	42146104	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr6:42146104C>G	ENST00000394237.1	+	4	1264	c.288C>G	c.(286-288)ttC>ttG	p.F96L	GUCA1A_ENST00000541991.1_Missense_Mutation_p.F96L|GUCA1A_ENST00000053469.4_Missense_Mutation_p.F96L|GUCA1A_ENST00000372958.1_Missense_Mutation_p.F96L			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	96	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCTGGTACTTCAAGCTCTATG	0.607000													10	85					0	0	0.000442599	0	0
ITCH	83737	broad.mit.edu	37	20	33026420	33026420	+	Silent	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr20:33026420C>T	ENST00000374864.4	+	8	876	c.663C>T	c.(661-663)ccC>ccT	p.P221P	ITCH_ENST00000262650.6_Silent_p.P262P|ITCH_ENST00000535650.1_Silent_p.P111P	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	262					apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						CACCACCACCCACCCCACGTA	0.438000													8	83					0	0	0.000274275	0	0
KRTAP9-4	85280	broad.mit.edu	37	17	39405983	39405983	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:39405983G>T	ENST00000334109.2	+	1	45	c.11G>T	c.(10-12)tGt>tTt	p.C4F		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	4						keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ATGACCCACTGTTGCTCCCCT	0.577000													14	105					1.67942e-08	2.71488e-07	0.00074312	1	0
OR11G2	390439	broad.mit.edu	37	14	20666236	20666236	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:20666236C>T	ENST00000357366.3	+	1	742	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TGTCTTTATGCTCTTTCTCTT	0.498000													29	191					0	0	0.000339439	0	0
BACE1	23621	broad.mit.edu	37	11	117186290	117186290	+	Silent	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:117186290G>C	ENST00000313005.6	-	1	682	c.222C>G	c.(220-222)ggC>ggG	p.G74G	BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Silent_p.G74G|BACE1_ENST00000445823.2_Silent_p.G74G|BACE1_ENST00000528053.1_Silent_p.G74G|BACE1_ENST00000428381.2_Silent_p.G74G	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	74					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CCACGTAGTAGCCCTGCCCCG	0.682000													4	29					0	0	3.59834e-05	0	0
SLC25A52	147407	broad.mit.edu	37	18	29340372	29340372	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr18:29340372G>C	ENST00000269205.5	-	1	471	c.283C>G	c.(283-285)Ctt>Gtt	p.L95V	SLC25A52_ENST00000579441.2_Missense_Mutation_p.L85V	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN	solute carrier family 25, member 52	85					transport	integral to membrane|mitochondrial inner membrane											AATGGGGGAAGGATTCCACGA	0.473000													7	74					0	0	8.12818e-05	0	0
UBE2T	29089	broad.mit.edu	37	1	202301085	202301085	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:202301085C>T	ENST00000367274.4	-	7	621	c.472G>A	c.(472-474)Gat>Aat	p.D158N		NM_014176.3	NP_054895.1	Q9NPD8	UBE2T_HUMAN	ubiquitin-conjugating enzyme E2T (putative)	158					DNA repair|protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination	nucleoplasm	ATP binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|skin(1)	5						TCTTCCTCATCAGCCTAAAGA	0.423000													6	79					0	0	8.12818e-05	0	0
DNAH17	8632	broad.mit.edu	37	17	76570975	76570975	+	Silent	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:76570975C>A	ENST00000389840.5	-	2	289	c.165G>T	c.(163-165)acG>acT	p.T55T	DNAH17_ENST00000585328.1_Silent_p.T55T					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTGCATTGAGCGTCAGCACCA	0.552000													16	35					2.32078e-09	3.89507e-08	0.000308642	1	0
SPPL2C	162540	broad.mit.edu	37	17	43922672	43922672	+	Missense_Mutation	SNP	C	C	G	rs140064060	byFrequency	TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:43922672C>G	ENST00000329196.5	+	1	417	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	134						integral to membrane	aspartic-type endopeptidase activity										AGACACCACCCTGGCACCCCA	0.637000													4	25					0	0	0.00024832	0	0
ACVR1	90	broad.mit.edu	37	2	158622640	158622640	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:158622640C>T	ENST00000263640.3	-	8	1288	c.859G>A	c.(859-861)Gaa>Aaa	p.E287K	ACVR1_ENST00000434821.1_Missense_Mutation_p.E287K|ACVR1_ENST00000410057.2_Missense_Mutation_p.E287K|ACVR1_ENST00000409283.2_Missense_Mutation_p.E287K	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	287	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	GATCCCATTTCATGATAATGT	0.403000													8	71					0	0	0.000157383	0	0
CUX2	23316	broad.mit.edu	37	12	111779685	111779685	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr12:111779685C>A	ENST00000261726.6	+	21	3641	c.3487C>A	c.(3487-3489)Ctg>Atg	p.L1163M		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCCAGGACCTGAGCCTCCT	0.657000													8	36					0.000274275	0.00378385	0.000274275	1	0
SV2A	9900	broad.mit.edu	37	1	149884837	149884837	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:149884837C>A	ENST00000369146.3	-	2	1046	c.556G>T	c.(556-558)Gtg>Ttg	p.V186L	SV2A_ENST00000369145.1_Missense_Mutation_p.V186L	NM_014849.3	NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	186					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ACGAAGCCCACCACAAAGACC	0.582000													17	76					8.00594e-06	0.000119184	0.000958276	1	0
LCT	3938	broad.mit.edu	37	2	136558235	136558235	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:136558235G>C	ENST00000264162.2	-	12	4818	c.4808C>G	c.(4807-4809)gCt>gGt	p.A1603G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1603	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)		TCTGGGTTCAGCCCAGTCACT	0.517000													16	57					0	0	0.00074312	0	0
REPS1	85021	broad.mit.edu	37	6	139251120	139251120	+	Silent	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr6:139251120G>A	ENST00000450536.2	-	9	1825	c.1251C>T	c.(1249-1251)agC>agT	p.S417S	REPS1_ENST00000409812.2_Silent_p.S417S|REPS1_ENST00000258062.5_Silent_p.S417S|REPS1_ENST00000367663.4_Silent_p.S417S|REPS1_ENST00000415951.2_Silent_p.S417S			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	417						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TAACCTCACTGCTCTGATTCA	0.448000													8	59					0	0	0.000157383	0	0
KIF4A	24137	broad.mit.edu	37	X	69640065	69640065	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:69640065A>C	ENST00000374403.3	+	31	3731	c.3649A>C	c.(3649-3651)Aac>Cac	p.N1217H		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1217	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCTGGCCAGCAACACCAGCTT	0.517000													3	24					0	0	6.4e-05	0	0
KCNAB1	7881	broad.mit.edu	37	3	156175289	156175289	+	Silent	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:156175289C>G	ENST00000302490.8	+	4	1222	c.351C>G	c.(349-351)ctC>ctG	p.L117L	KCNAB1_ENST00000471742.1_Silent_p.L124L|KCNAB1_ENST00000490337.1_Silent_p.L135L|KCNAB1_ENST00000389634.5_Silent_p.L117L|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389636.5_Silent_p.L135L	NM_172159.3	NP_751891.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	135						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GTGTTAACCTCTTTGATACTG	0.468000													14	102					0	0	0.000566183	0	0
DHRSX	207063	broad.mit.edu	37	X	2161228	2161228	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:2161228C>A	ENST00000334651.5	-	6	692	c.640G>T	c.(640-642)Gcc>Tcc	p.A214S		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	214							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				AGGACAAGGGCCAGCTTGCTC	0.642000													12	52					7.93312e-07	1.21534e-05	0.000219431	1	0
GLYR1	84656	broad.mit.edu	37	16	4861235	4861235	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr16:4861235C>T	ENST00000321919.9	-	15	1599	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	GLYR1_ENST00000381983.3_Missense_Mutation_p.R491H|GLYR1_ENST00000591451.1_Missense_Mutation_p.R502H|GLYR1_ENST00000436648.5_Missense_Mutation_p.R427H	NM_032569.3	NP_115958.2	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	508					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						AATGGCTAAGCGGAGATCCTT	0.507000													9	128					0	0	0.000442599	0	0
OR4D6	219983	broad.mit.edu	37	11	59224585	59224585	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:59224585G>C	ENST00000300127.2	+	1	175	c.152G>C	c.(151-153)tGt>tCt	p.C51S		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACTATTACCTGTGAGTCCCGC	0.473000													18	71					0	0	0.000958276	0	0
FOXM1	2305	broad.mit.edu	37	12	2977809	2977809	+	Missense_Mutation	SNP	G	G	C	rs137928577		TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr12:2977809G>C	ENST00000342628.2	-	4	879	c.766C>G	c.(766-768)Cgc>Ggc	p.R256G	FOXM1_ENST00000359843.3_Missense_Mutation_p.R256G|FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Missense_Mutation_p.R256G	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	256					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			AAAGTCATGCGCTTCCTCTCA	0.502000													20	115					0	0	0.000175454	0	0
DYRK1B	9149	broad.mit.edu	37	19	40316653	40316653	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr19:40316653G>A	ENST00000593685.1	-	11	2060	c.1592C>T	c.(1591-1593)tCt>tTt	p.S531F	DYRK1B_ENST00000323039.5_Missense_Mutation_p.S531F|DYRK1B_ENST00000597639.1_Missense_Mutation_p.S503F|DYRK1B_ENST00000348817.3_Missense_Mutation_p.S503F|DYRK1B_ENST00000430012.2_Missense_Mutation_p.S491F			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	531					positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			TGACGAGGCAGAGGCAGGGGC	0.657000													17	27					0	0	0.00074312	0	0
DAK	26007	broad.mit.edu	37	11	61105499	61105499	+	Silent	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:61105499C>T	ENST00000394900.3	+	3	319	c.90C>T	c.(88-90)ctC>ctT	p.L30L	DAK_ENST00000530057.1_3'UTR	NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	30	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						ACCTGCAGCTCCTGCAGGGCC	0.667000													8	97					0	0	0.000274275	0	0
CTCFL	140690	broad.mit.edu	37	20	56089661	56089661	+	Silent	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr20:56089661C>G	ENST00000426658.2	-	6	1978	c.1317G>C	c.(1315-1317)cgG>cgC	p.R439R	CTCFL_ENST00000243914.3_Silent_p.R439R|CTCFL_ENST00000539382.1_Silent_p.R234R|CTCFL_ENST00000502686.2_Silent_p.R177R|CTCFL_ENST00000422109.2_Intron|CTCFL_ENST00000433949.2_Silent_p.R439R|CTCFL_ENST00000371196.2_Silent_p.R439R|CTCFL_ENST00000432255.2_Intron|CTCFL_ENST00000429804.2_Intron|CTCFL_ENST00000423479.2_Silent_p.R439R|CTCFL_ENST00000422869.2_Silent_p.R439R			Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	439					cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GGTCGCTTTTCCGTGCAATGA	0.488000											OREG0026065	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	178					0	0	0.00074312	0	0
IQCH	64799	broad.mit.edu	37	15	67553673	67553673	+	Nonsense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr15:67553673G>T	ENST00000335894.4	+	2	181	c.115G>T	c.(115-117)Gag>Tag	p.E39*	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000512104.1_Nonsense_Mutation_p.E39*|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885.1	Q86VS3	IQCH_HUMAN	IQ motif containing H	39										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		GGAAAAAGGAGAGACTCTAGA	0.328000													8	117					0.000442599	0.00598077	0.000442599	1	0
BRAF	673	broad.mit.edu	37	7	140494148	140494148	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr7:140494148G>C	ENST00000288602.6	-	8	1160	c.1100C>G	c.(1099-1101)cCc>cGc	p.P367R		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	367					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATGCACATTGGGAGCTGATGA	0.398000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				10	110					0	0	0.000673444	0	0
ADNP2	22850	broad.mit.edu	37	18	77895022	77895022	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr18:77895022C>G	ENST00000262198.4	+	4	2181	c.1726C>G	c.(1726-1728)Ctg>Gtg	p.L576V		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	576					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CACCAACATTCTGCCTGTGAA	0.547000													10	74					0	0	0.000673444	0	0
PKD1L1	168507	broad.mit.edu	37	7	47897302	47897302	+	Silent	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr7:47897302C>A	ENST00000289672.2	-	28	4541	c.4491G>T	c.(4489-4491)ggG>ggT	p.G1497G		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1497	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CAGGACTGTGCCCAGCAAGGT	0.562000													17	70					0.000566183	0.0076117	0.000566183	1	0
KCNB2	9312	broad.mit.edu	37	8	73479988	73479988	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:73479988C>A	ENST00000523207.1	+	2	607	c.19C>A	c.(19-21)Ccg>Acg	p.P7T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	7					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)			AAAGGCTCCCCCGGGCTTAAA	0.498000													6	76					0.000442599	0.00598077	0.000442599	1	0
MCL1	4170	broad.mit.edu	37	1	150550957	150550957	+	Silent	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:150550957C>G	ENST00000369026.2	-	2	758	c.699G>C	c.(697-699)cgG>cgC	p.R233R	MCL1_ENST00000464132.1_5'UTR|MCL1_ENST00000307940.3_Intron	NM_001197320.1|NM_021960.4	NP_001184249.1|NP_068779.1	Q07820	MCL1_HUMAN	myeloid cell leukemia sequence 1 (BCL2-related)	233					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGTCCAGTTTCCGAAGCATGC	0.522000													4	77					0	0	3.59834e-05	0	0
IGHV7-81	28378	broad.mit.edu	37	14	107282984	107282984	+	RNA	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:107282984C>A	ENST00000390639.2	-	0	212																											GCACCCAATTCATACCATAGG	0.567000													14	100					1.5842e-08	2.57677e-07	0.000151284	1	0
PCDH11X	27328	broad.mit.edu	37	X	91642830	91642830	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:91642830A>T	ENST00000373094.1	+	5	4086	c.3241A>T	c.(3241-3243)Aca>Tca	p.T1081S	PCDH11X_ENST00000504220.1_Intron|PCDH11X_ENST00000361655.2_Missense_Mutation_p.T1071S|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T1044S|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T1081S|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T1071S|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T1044S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1081					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCTTACCAGCACATCTCATGG	0.562000													11	90					0	0	0.000978159	0	0
IRX1	79192	broad.mit.edu	37	5	3600760	3600760	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr5:3600760G>T	ENST00000302006.3	+	3	1402	c.1350G>T	c.(1348-1350)caG>caT	p.Q450H		NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	450						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGCCGGCACAGCAGTTAAAGT	0.627000													9	64					1.33987e-11	2.35371e-10	0.000673444	1	0
OR2T2	401992	broad.mit.edu	37	1	248616145	248616145	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:248616145C>A	ENST00000342927.3	+	1	69	c.47C>A	c.(46-48)aCa>aAa	p.T16K		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTCGTCCTCACAGGCCTCATC	0.502000													14	132					1.02788e-11	1.81777e-10	0.000566183	1	0
EPHA6	285220	broad.mit.edu	37	3	96706503	96706503	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:96706503C>G	ENST00000389672.5	+	3	818	c.780C>G	c.(778-780)atC>atG	p.I260M	EPHA6_ENST00000470610.2_Missense_Mutation_p.I260M|EPHA6_ENST00000542517.1_Missense_Mutation_p.I166M	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	165						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						GTGATCGCATCCTCAAACTCA	0.443000													9	153					0	0	0.000442599	0	0
SCYL2	55681	broad.mit.edu	37	12	100691891	100691891	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr12:100691891A>G	ENST00000360820.2	+	4	855	c.418A>G	c.(418-420)Ata>Gta	p.I140V		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	140	Protein kinase.			PISPDIK -> LMSGDIG (in Ref. 4; BAA92598).	endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						ACCTTCCCCTATATCTCCAGA	0.323000													10	29					0	0	0.000151284	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													3	49					0	0	6.4e-05	0	0
KPRP	448834	broad.mit.edu	37	1	152732194	152732194	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:152732194C>A	ENST00000368773.1	+	2	188	c.130C>A	c.(130-132)Caa>Aaa	p.Q44K	KPRP_ENST00000606109.1_Missense_Mutation_p.Q44K	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	44	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTGAGATGCAAATTGTGGA	0.567000													21	89					1.10923e-09	1.88569e-08	0.000375601	1	0
CNTN4	152330	broad.mit.edu	37	3	3067833	3067833	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:3067833G>C	ENST00000397461.1	+	14	1918	c.1534G>C	c.(1534-1536)Gga>Cga	p.G512R	CNTN4_ENST00000427331.1_Missense_Mutation_p.G512R|CNTN4_ENST00000397459.2_Missense_Mutation_p.G184R|CNTN4_ENST00000358480.3_Missense_Mutation_p.G293R|CNTN4_ENST00000448906.2_Missense_Mutation_p.G184R|CNTN4_ENST00000418658.1_Missense_Mutation_p.G512R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	512	Ig-like C2-type 6.				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)		TGTCACTGTTGGAGAGAGTAT	0.418000													3	26					0	0	6.4e-05	0	0
TACC2	10579	broad.mit.edu	37	10	123843455	123843455	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr10:123843455G>T	ENST00000369005.1	+	4	1780	c.1440G>T	c.(1438-1440)gaG>gaT	p.E480D	TACC2_ENST00000453444.2_Missense_Mutation_p.E480D|TACC2_ENST00000334433.3_Missense_Mutation_p.E480D|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.E480D|TACC2_ENST00000515273.1_Missense_Mutation_p.E480D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	480						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GCAAGGGAGAGCATCCAGAAG	0.587000													18	84					8.81451e-21	1.61293e-19	0.000132079	1	0
DLGAP5	9787	broad.mit.edu	37	14	55621352	55621352	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:55621352C>G	ENST00000247191.2	-	15	2262	c.2046G>C	c.(2044-2046)ttG>ttC	p.L682F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.L682F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	682					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAGGAATACTCAAAAACAAAG	0.358000													3	93					0	0	0.00024832	0	0
PSG6	5675	broad.mit.edu	37	19	43421914	43421914	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr19:43421914G>T	ENST00000187910.2	-	1	96	c.31C>A	c.(31-33)Cag>Aag	p.Q11K	PSG6_ENST00000292125.2_Missense_Mutation_p.Q11K|PSG6_ENST00000402603.4_Missense_Mutation_p.Q11K|PSG6_ENST00000601833.1_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTGATGTGCTGAGTGCAGGGA	0.597000													51	104					6.3091e-27	1.16255e-25	0.000781405	1	0
SGK223	157285	broad.mit.edu	37	8	8235009	8235009	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:8235009C>A	ENST00000520004.1	-	3	1174	c.910G>T	c.(910-912)Ggc>Tgc	p.G304C	SGK223_ENST00000330777.4_Missense_Mutation_p.G304C			Q86YV5	SG223_HUMAN		304							ATP binding|non-membrane spanning protein tyrosine kinase activity										AAGCTCGGGCCCCGCTTCTCC	0.677000													6	14					0.000157383	0.00220588	0.000157383	1	0
HAUS7	55559	broad.mit.edu	37	X	152734616	152734616	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:152734616C>A	ENST00000370219.3	-	2	799	c.242G>T	c.(241-243)tGg>tTg	p.W81L	TREX2_ENST00000330912.2_5'UTR|TREX2_ENST00000338525.2_5'UTR|HAUS7_ENST00000370212.3_Missense_Mutation_p.W81L|TREX2_ENST00000370232.1_5'UTR|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370211.4_Missense_Mutation_p.W71L|HAUS7_ENST00000421080.2_5'UTR|HAUS7_ENST00000370210.1_Missense_Mutation_p.W71L	NM_017518.6	NP_059988.3	Q99871	HAUS7_HUMAN	HAUS augmin-like complex, subunit 7	81					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						GGTACACATCCACTCTAGGAT	0.552000													18	126					4.96729e-08	7.98098e-07	0.000132079	1	0
SORL1	6653	broad.mit.edu	37	11	121461839	121461839	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:121461839C>G	ENST00000260197.7	+	31	4472	c.4343C>G	c.(4342-4344)tCt>tGt	p.S1448C	SORL1_ENST00000525532.1_Missense_Mutation_p.S392C|SORL1_ENST00000534286.1_Missense_Mutation_p.S358C|SORL1_ENST00000527934.1_Missense_Mutation_p.S63C|SORL1_ENST00000532694.1_Missense_Mutation_p.S294C	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1448	LDL-receptor class A 9.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCAGATGGCTCTGACGAGGAA	0.617000											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	85					0	0	8.12818e-05	0	0
PYCR2	29920	broad.mit.edu	37	1	226109657	226109657	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:226109657C>A	ENST00000343818.6	-	4	589	c.441G>T	c.(439-441)caG>caT	p.Q147H	PYCR2_ENST00000478402.1_5'UTR|RP4-559A3.7_ENST00000432920.2_Intron	NM_013328.2	NP_037460.2	Q96C36	P5CR2_HUMAN	pyrroline-5-carboxylate reductase family, member 2	147					proline biosynthetic process	cytoplasm	binding|pyrroline-5-carboxylate reductase activity			kidney(1)|lung(3)	4	Breast(184;0.197)				L-Proline(DB00172)|NADH(DB00157)	GCTCCAGGAGCTGCCCATCCT	0.627000													5	25					1.23904e-05	0.00018038	0.000602214	1	0
MEPCE	56257	broad.mit.edu	37	7	100030679	100030679	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr7:100030679C>G	ENST00000310512.2	+	2	2197	c.1809C>G	c.(1807-1809)atC>atG	p.I603M	MEPCE_ENST00000414441.1_Missense_Mutation_p.I134M	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	603	Bin3-type SAM.						methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTCGCCGGATCTACCGGCACC	0.592000													4	67					0	0	0.00024832	0	0
MPHOSPH10	10199	broad.mit.edu	37	2	71365639	71365639	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:71365639C>G	ENST00000244230.2	+	5	1470	c.1118C>G	c.(1117-1119)tCt>tGt	p.S373C	MPHOSPH10_ENST00000498451.2_Missense_Mutation_p.S373C	NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	373					RNA splicing, via transesterification reactions|rRNA processing	chromosome|nucleolus|small nucleolar ribonucleoprotein complex	protein binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						AAAATTGCATCTTTAGAAAAA	0.338000													3	25					0	0	0.000602214	0	0
DYRK1A	1859	broad.mit.edu	37	21	38853104	38853104	+	Missense_Mutation	SNP	G	G	T	rs1049775		TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr21:38853104G>T	ENST00000339659.3	+	4	1935	c.465G>T	c.(463-465)ttG>ttT	p.L155F	DYRK1A_ENST00000398960.2_Missense_Mutation_p.L164F|DYRK1A_ENST00000398956.2_Missense_Mutation_p.L164F|DYRK1A_ENST00000321219.8_Missense_Mutation_p.L164F|DYRK1A_ENST00000338785.3_Missense_Mutation_p.L164F|DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000451934.1_Missense_Mutation_p.L164F	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A	164					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TTGACTCCTTGATAGGCAAAG	0.348000													10	66					1.61879e-10	2.78792e-09	0.00010058	1	0
ASAP1	50807	broad.mit.edu	37	8	131414164	131414164	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:131414164G>T	ENST00000357668.1	-	1	53	c.26C>A	c.(25-27)tCc>tAc	p.S9Y	ASAP1_ENST00000518721.1_Missense_Mutation_p.S9Y			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	9					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CGAAAAACTGGAGAGCCTGGA	0.517000													16	56					1.33834e-09	2.26059e-08	0.000958276	1	0
IGHV3-11	28450	broad.mit.edu	37	14	106573327	106573327	+	RNA	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:106573327C>T	ENST00000390601.2	-	0	376																											GATGGTGAATCGGCCCTTCAC	0.527000													17	316					0	0	0.00047179	0	0
ROBO2	6092	broad.mit.edu	37	3	77542452	77542452	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:77542452T>C	ENST00000461745.1	+	5	1625	c.725T>C	c.(724-726)gTa>gCa	p.V242A	ROBO2_ENST00000332191.8_Missense_Mutation_p.V242A|ROBO2_ENST00000487694.3_Missense_Mutation_p.V258A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	242	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAAGAAGCTGTAGAATTTCGT	0.408000													3	37					0	0	0.00024832	0	0
CCDC62	84660	broad.mit.edu	37	12	123310992	123310992	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr12:123310992G>C	ENST00000392441.4	+	12	2170	c.2025G>C	c.(2023-2025)caG>caC	p.Q675H	CCDC62_ENST00000392440.2_3'UTR|CCDC62_ENST00000253079.6_3'UTR|CCDC62_ENST00000537566.1_3'UTR			Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	674						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GTGGAAGGCAGAAAGCAGACA	0.368000													3	58					0	0	0.00024832	0	0
PNPLA8	50640	broad.mit.edu	37	7	108154644	108154644	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr7:108154644C>T	ENST00000426128.2	-	3	1275	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	PNPLA8_ENST00000483879.1_Intron|PNPLA8_ENST00000436062.1_Missense_Mutation_p.E384K|PNPLA8_ENST00000257694.8_Missense_Mutation_p.E384K|PNPLA8_ENST00000388728.5_Missense_Mutation_p.E384K|PNPLA8_ENST00000422087.1_Missense_Mutation_p.E384K|PNPLA8_ENST00000453144.1_Missense_Mutation_p.E284K	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	384					fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						GTCAGTTCTTCAACCCTAGTA	0.378000													15	311					0	0	0.000958276	0	0
PLCB1	23236	broad.mit.edu	37	20	8628584	8628584	+	Missense_Mutation	SNP	C	C	A	rs142186851		TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr20:8628584C>A	ENST00000378641.3	+	6	977	c.502C>A	c.(502-504)Cgt>Agt	p.R168S	PLCB1_ENST00000378637.2_Missense_Mutation_p.R168S|PLCB1_ENST00000338037.6_Missense_Mutation_p.R168S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	168					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.R168C(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TCCAGAAGGGCGTATTCCTCT	0.348000													9	55					2.80697e-09	4.68125e-08	0.000978159	1	0
CYP11B2	1585	broad.mit.edu	37	8	143993991	143993991	+	Silent	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:143993991G>A	ENST00000323110.2	-	8	1355	c.1353C>T	c.(1351-1353)ctC>ctT	p.L451L		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	451					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCGCCGCCCGAGGCACTGGC	0.687000									Familial Hyperaldosteronism type I				6	59					0	0	3.59834e-05	0	0
LRRC41	10489	broad.mit.edu	37	1	46746150	46746150	+	Silent	SNP	C	C	A	rs141700475	by1000genomes	TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:46746150C>A	ENST00000343304.6	-	6	2124	c.1839G>T	c.(1837-1839)tcG>tcT	p.S613S	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	613										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCAGAGAACCCGAGGCCTTCA	0.562000													16	83					3.45872e-05	0.000498017	0.000422831	1	0
CBX4	8535	broad.mit.edu	37	17	77808599	77808599	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:77808599G>C	ENST00000269397.4	-	5	1019	c.842C>G	c.(841-843)tCc>tGc	p.S281C		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	281	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CACCTCGCCGGACTTGATCTT	0.582000											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	193					0	0	0.000157383	0	0
AMACR	23600	broad.mit.edu	37	5	33989575	33989575	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr5:33989575G>C	ENST00000335606.6	-	5	860	c.772C>G	c.(772-774)Cag>Gag	p.Q258E	AMACR_ENST00000382085.3_Missense_Mutation_p.Q258E|AMACR_ENST00000502637.1_Missense_Mutation_p.Q243E|AMACR_ENST00000382072.2_3'UTR|AMACR_ENST00000514195.1_5'UTR	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	258					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						ATGCTCATCTGATTGGGAAGT	0.368000													3	52					0	0	6.4e-05	0	0
NKRF	55922	broad.mit.edu	37	X	118723544	118723544	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:118723544C>A	ENST00000371527.1	-	2	2496	c.1844G>T	c.(1843-1845)cGc>cTc	p.R615L	NKRF_ENST00000542113.1_Missense_Mutation_p.R630L|NKRF_ENST00000304449.5_Missense_Mutation_p.R615L|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	615	R3H.			AR -> ES (in Ref. 1; CAB56459).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						GCTCTCGGAGCGGGCGTAGTT	0.448000													18	109					5.3912e-06	8.07149e-05	0.00074312	1	0
ZNF483	158399	broad.mit.edu	37	9	114304223	114304223	+	Silent	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr9:114304223G>A	ENST00000309235.5	+	6	1166	c.1008G>A	c.(1006-1008)aaG>aaA	p.K336K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	336					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATGAAAGCAAGAAACCCTTCA	0.403000													9	169					0	0	0.000978159	0	0
TRIM49C	642612	broad.mit.edu	37	11	89768527	89768527	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:89768527G>C	ENST00000448984.1	+	3	477	c.148G>C	c.(148-150)Gtc>Ctc	p.V50L	TRIM49C_ENST00000432771.1_Missense_Mutation_p.V50L	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN	tripartite motif containing 49C	50						intracellular	zinc ion binding			endometrium(3)|kidney(1)|lung(4)	8						CCCATTTCTTGTCCAGTGCTC	0.458000													12	56					0	0	0.000219431	0	0
HDLBP	3069	broad.mit.edu	37	2	242203865	242203865	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:242203865G>A	ENST00000391975.1	-	4	459	c.232C>T	c.(232-234)Cag>Tag	p.Q78*	HDLBP_ENST00000310931.4_Nonsense_Mutation_p.Q78*|HDLBP_ENST00000427183.2_Nonsense_Mutation_p.Q114*|HDLBP_ENST00000391976.2_Nonsense_Mutation_p.Q78*	NM_203346.3	NP_976221.1	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	78					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GTTTCTACCTGAGTGATGACA	0.398000													25	85					0	0	0.00047179	0	0
ITGB2	3689	broad.mit.edu	37	21	46314930	46314930	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr21:46314930C>G	ENST00000397850.2	-	10	1491	c.1039G>C	c.(1039-1041)Gag>Cag	p.E347Q	ITGB2_ENST00000397857.1_Missense_Mutation_p.E347Q|ITGB2_ENST00000355153.4_Missense_Mutation_p.E347Q|ITGB2_ENST00000302347.5_Missense_Mutation_p.E347Q|ITGB2_ENST00000397852.1_Missense_Mutation_p.E347Q|ITGB2_ENST00000397854.3_Missense_Mutation_p.E290Q			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	347	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTGGAGTCCTCAGACAGCTCC	0.572000													4	58					0	0	3.59834e-05	0	0
OXCT1	5019	broad.mit.edu	37	5	41862832	41862832	+	Silent	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr5:41862832G>A	ENST00000196371.5	-	2	259	c.99C>T	c.(97-99)tcC>tcT	p.S33S		NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	33					cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GAGCACTGGTGGAAAAGGAAC	0.368000													9	73					0	0	0.000442599	0	0
ZNF362	149076	broad.mit.edu	37	1	33745793	33745793	+	Missense_Mutation	SNP	A	A	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:33745793A>T	ENST00000539719.1	+	5	588	c.418A>T	c.(418-420)Acg>Tcg	p.T140S	ZNF362_ENST00000373428.5_Missense_Mutation_p.T140S	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGCACGGGCACGGGTACCAG	0.697000													5	79					0	0	0.000602214	0	0
PASK	23178	broad.mit.edu	37	2	242047654	242047654	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:242047654C>G	ENST00000405260.1	-	16	4293	c.3595G>C	c.(3595-3597)Gag>Cag	p.E1199Q	PASK_ENST00000475666.1_5'UTR|PASK_ENST00000539818.1_Missense_Mutation_p.E983Q|PASK_ENST00000358649.4_Missense_Mutation_p.E1206Q|PASK_ENST00000544142.1_Missense_Mutation_p.E1013Q|PASK_ENST00000234040.4_Missense_Mutation_p.E1199Q	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1199	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GGGTTCTCCTCAAAGACCAGC	0.597000													6	68					0	0	8.12818e-05	0	0
CCP110	9738	broad.mit.edu	37	16	19548753	19548753	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr16:19548753C>G	ENST00000396212.2	+	5	2198	c.1762C>G	c.(1762-1764)Ctt>Gtt	p.L588V	CCP110_ENST00000396208.2_Missense_Mutation_p.L588V|CCP110_ENST00000381396.5_Missense_Mutation_p.L588V	NM_014711.4	NP_055526.3	O43303	CP110_HUMAN	centriolar coiled coil protein 110kDa	588					centriole replication|G2/M transition of mitotic cell cycle|regulation of cytokinesis	centriole|cytosol	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1)	21						TAAACGGAGACTTGATTTAGA	0.363000													5	111					0	0	0.000602214	0	0
CBLB	868	broad.mit.edu	37	3	105459348	105459348	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:105459348T>C	ENST00000264122.4	-	7	1294	c.973A>G	c.(973-975)Agg>Ggg	p.R325G	CBLB_ENST00000403724.1_Missense_Mutation_p.R325G|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000405772.1_Missense_Mutation_p.R325G|CBLB_ENST00000394027.3_Missense_Mutation_p.R347G	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	325	Cbl-PTB.|SH2-like.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATCCTTCCCTGCTGCCATCA	0.418000			Mis S		AML								17	70					0	0	0.000132079	0	0
LOC93432	93432	broad.mit.edu	37	7	141896615	141896615	+	Splice_Site	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr7:141896615G>C	ENST00000477922.3	+	40	4685	c.4632_splice	c.e40+1	p.R1544_splice																	endometrium(1)|lung(5)	6						ATCGGGACAAGGGTGAGGCAG	0.433000													10	21					0	0	0.000442599	0	0
SEL1L2	80343	broad.mit.edu	37	20	13868493	13868493	+	Missense_Mutation	SNP	A	A	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr20:13868493A>C	ENST00000284951.5	-	8	741	c.667T>G	c.(667-669)Tac>Gac	p.Y223D	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.Y223D			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	223						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAATATCTGTACCCCTAAAAC	0.313000													7	155					0	0	0.000157383	0	0
SYT13	57586	broad.mit.edu	37	11	45275886	45275886	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:45275886G>T	ENST00000020926.3	-	3	590	c.479C>A	c.(478-480)cCc>cAc	p.P160H	CTD-2560E9.5_ENST00000534342.1_RNA|CTD-2560E9.5_ENST00000531663.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	160						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GTGGAGTTTGGGGGCCTGGTT	0.522000													7	38					1.06961e-07	1.69785e-06	0.000157383	1	0
CNKSR2	22866	broad.mit.edu	37	X	21670428	21670428	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:21670428G>C	ENST00000425654.2	+	21	3284	c.2804G>C	c.(2803-2805)aGa>aCa	p.R935T	CNKSR2_ENST00000379510.3_Missense_Mutation_p.R965T	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	965					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TTTCAGGCCAGAGAAGGGGAA	0.353000													3	34					0	0	6.4e-05	0	0
CD6	923	broad.mit.edu	37	11	60781476	60781476	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:60781476C>G	ENST00000313421.7	+	8	1563	c.1377C>G	c.(1375-1377)atC>atG	p.I459M	CD6_ENST00000452451.2_Missense_Mutation_p.I459M|CD6_ENST00000352009.5_Intron|CD6_ENST00000344028.5_Intron|CD6_ENST00000346437.4_Intron|CD6_ENST00000545105.1_3'UTR	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	459					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						CCATCACCATCCCCAAAGAAG	0.602000													3	30					0	0	0.00024832	0	0
CHTOP	26097	broad.mit.edu	37	1	153615717	153615717	+	Silent	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:153615717C>A	ENST00000368694.3	+	5	730	c.418C>A	c.(418-420)Cga>Aga	p.R140R	CHTOP_ENST00000368690.3_Intron|CHTOP_ENST00000495554.1_Intron|CHTOP_ENST00000403433.1_Intron|CHTOP_ENST00000368686.1_3'UTR|CHTOP_ENST00000368687.1_Silent_p.R115R	NM_001206612.1|NM_015607.3	NP_001193541.1|NP_056422.2	Q9Y3Y2	CHTOP_HUMAN	chromatin target of PRMT1	140	Arg/Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	protein binding|RNA binding			endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(6)	13						AAACCTGCTCCGAGGTGGACG	0.537000													7	145					0.000274275	0.00378385	0.000274275	1	0
TTLL10	254173	broad.mit.edu	37	1	1117798	1117798	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:1117798G>C	ENST00000379290.1	+	10	1061	c.888G>C	c.(886-888)gaG>gaC	p.E296D	TTLL10_ENST00000379288.3_Missense_Mutation_p.E223D|TTLL10_ENST00000379289.1_Missense_Mutation_p.E296D			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	296	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCAAACACGAGAGAGAGGCCT	0.617000													7	81					0	0	0.000157383	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23401202	23401202	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr7:23401202C>T	ENST00000258729.3	-	5	708	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	118	RRM 2.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ACTGCAGTTTCCGAGTCAGTG	0.338000													10	181					0	0	0.000673444	0	0
LCT	3938	broad.mit.edu	37	2	136570244	136570244	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:136570244G>T	ENST00000264162.2	-	7	2000	c.1990C>A	c.(1990-1992)Ccc>Acc	p.P664T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	664	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)		GTGAACTCGGGGAGTTGAGCC	0.557000													12	71					6.31663e-08	1.00875e-06	0.000308642	1	0
FFAR3	2865	broad.mit.edu	37	19	35850463	35850463	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr19:35850463C>T	ENST00000327809.4	+	2	872	c.671C>T	c.(670-672)gCg>gTg	p.A224V	FFAR3_ENST00000594310.1_Missense_Mutation_p.A224V	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	224						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			AGGAGGGTGGCGGGGCTGTTG	0.642000													9	89					0	0	0.000274275	0	0
PPP1R10	5514	broad.mit.edu	37	6	30570127	30570127	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr6:30570127G>T	ENST00000376511.2	-	19	2851	c.2299C>A	c.(2299-2301)Cat>Aat	p.H767N		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	767	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGGGGACGATGTCCACTGCTG	0.672000													16	109					4.14922e-12	7.38729e-11	0.000422831	1	0
ZBTB6	10773	broad.mit.edu	37	9	125673231	125673231	+	Missense_Mutation	SNP	T	T	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr9:125673231T>C	ENST00000373659.3	-	2	1209	c.1121A>G	c.(1120-1122)aAc>aGc	p.N374S		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						ACTGTGTATGTTCAAGTGGTC	0.478000													4	28					0	0	0.00024832	0	0
COL11A1	1301	broad.mit.edu	37	1	103468337	103468337	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:103468337C>G	ENST00000358392.2	-	22	2362	c.2045G>C	c.(2044-2046)gGt>gCt	p.G682A	COL11A1_ENST00000512756.1_Missense_Mutation_p.G554A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G631A|COL11A1_ENST00000370096.3_Missense_Mutation_p.G670A|COL11A1_ENST00000461720.1_5'UTR	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	670	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCATCTACACCTGCCATACC	0.323000													3	25					0	0	6.4e-05	0	0
SAG	6295	broad.mit.edu	37	2	234238166	234238166	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:234238166G>T	ENST00000409110.1	+	9	906	c.676G>T	c.(676-678)Gtg>Ttg	p.V226L	SAG_ENST00000449594.2_Missense_Mutation_p.V92L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	226					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		GCCCATCCCTGTGACCGTGAC	0.443000													12	30					0.000151284	0.0021432	0.000151284	1	0
ARHGEF1	9138	broad.mit.edu	37	19	42396885	42396885	+	Silent	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr19:42396885G>T	ENST00000599846.1	+	7	704	c.579G>T	c.(577-579)gtG>gtT	p.V193V	ARHGEF1_ENST00000347545.4_Silent_p.V160V|ARHGEF1_ENST00000378152.4_Silent_p.V175V|ARHGEF1_ENST00000337665.4_Silent_p.V208V|ARHGEF1_ENST00000354532.3_Silent_p.V193V			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	193	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		AGCGGCACGTGGCGGAGCGGC	0.701000													5	6					0.000602214	0.00801432	0.000602214	1	0
ASAP1	50807	broad.mit.edu	37	8	131414163	131414163	+	Silent	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:131414163G>T	ENST00000357668.1	-	1	54	c.27C>A	c.(25-27)tcC>tcA	p.S9S	ASAP1_ENST00000518721.1_Silent_p.S9S			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	9					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						ACGAAAAACTGGAGAGCCTGG	0.517000													14	57					4.7546e-09	7.83024e-08	0.000422831	1	0
USP11	8237	broad.mit.edu	37	X	47104820	47104820	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:47104820C>G	ENST00000377107.2	+	17	2563	c.2209C>G	c.(2209-2211)Cgg>Ggg	p.R737G	USP11_ENST00000218348.3_Missense_Mutation_p.R780G			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	780					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GGCTCCCGTGCGGCTGCAGGA	0.592000													4	23					0	0	0.000602214	0	0
GPR98	84059	broad.mit.edu	37	5	90124896	90124896	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr5:90124896G>T	ENST00000405460.2	+	77	16600	c.16504G>T	c.(16504-16506)Gtg>Ttg	p.V5502L	GPR98_ENST00000425867.2_Missense_Mutation_p.V1163L	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5502					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTATTTTTCTGTGGGTTCTCG	0.438000													6	74					5.9392e-07	9.20576e-06	3.59834e-05	1	0
APBA3	9546	broad.mit.edu	37	19	3760138	3760138	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr19:3760138C>A	ENST00000316757.3	-	2	325	c.125G>T	c.(124-126)gGa>gTa	p.G42V		NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	42					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGGGCCTCCTGGCATAGG	0.632000													14	57					9.16793e-09	1.50047e-07	0.000566183	1	0
UNC5D	137970	broad.mit.edu	37	8	35406824	35406824	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:35406824G>A	ENST00000287272.2	+	2	138	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	UNC5D_ENST00000420357.1_Missense_Mutation_p.E40K|UNC5D_ENST00000404895.2_Missense_Mutation_p.E40K|UNC5D_ENST00000416672.1_Missense_Mutation_p.E40K|UNC5D_ENST00000453357.2_Missense_Mutation_p.E35K			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	40					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TGACAATGGCGAAGCCCTTCC	0.463000													6	23					0	0	8.12818e-05	0	0
GALNT18	374378	broad.mit.edu	37	11	11643072	11643072	+	Silent	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:11643072G>A	ENST00000227756.4	-	1	480	c.69C>T	c.(67-69)atC>atT	p.I23I	GALNT18_ENST00000526064.1_5'UTR	NM_198516.2	NP_940918.2			UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18																		GCAGGCAGATGATGTTAGTCA	0.577000													5	24					0	0	0.000602214	0	0
SENP5	205564	broad.mit.edu	37	3	196630482	196630482	+	Splice_Site	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:196630482G>A	ENST00000323460.5	+	6	2133		c.e6+1		SENP5_ENST00000419026.1_Splice_Site|SENP5_ENST00000489744.1_Splice_Site|SENP5_ENST00000445299.2_Splice_Site	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5						cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		GACTAAAAAGGTATTCTCTTT	0.328000													6	53					0	0	8.12818e-05	0	0
NISCH	11188	broad.mit.edu	37	3	52526236	52526236	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:52526236G>T	ENST00000345716.4	+	21	4387	c.4253G>T	c.(4252-4254)cGa>cTa	p.R1418L	NISCH_ENST00000479054.1_Missense_Mutation_p.R1418L	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN	nischarin	1418					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GACCTGGACCGAGTGCTCATG	0.632000													20	79					4.54149e-19	8.25298e-18	0.000295444	1	0
ZNF638	27332	broad.mit.edu	37	2	71653631	71653631	+	Missense_Mutation	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:71653631G>T	ENST00000355812.3	+	23	3726	c.3407G>T	c.(3406-3408)tGg>tTg	p.W1136L	ZNF638_ENST00000409407.1_Silent_p.V484V|ZNF638_ENST00000264447.4_Silent_p.V1544V|ZNF638_ENST00000409544.1_Silent_p.V1544V			Q14966	ZN638_HUMAN	zinc finger protein 638	0	Glu-rich.				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TTGTTACTGTGGATGAGGTTA	0.348000													9	70					6.42651e-13	1.15196e-11	0.000978159	1	0
SYT9	143425	broad.mit.edu	37	11	7437318	7437318	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:7437318C>G	ENST00000318881.6	+	4	1327	c.1090C>G	c.(1090-1092)Cca>Gca	p.P364A		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	364	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GTGCTATCTTCCAACGGCTGG	0.443000													7	111					0	0	8.12818e-05	0	0
AAK1	22848	broad.mit.edu	37	2	69736403	69736403	+	Missense_Mutation	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:69736403G>A	ENST00000409085.4	-	14	2342	c.1966C>T	c.(1966-1968)Ctc>Ttc	p.L656F	AAK1_ENST00000409068.1_Missense_Mutation_p.L656F|AAK1_ENST00000406297.3_Missense_Mutation_p.L656F	NM_014911.3	NP_055726.3	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	656						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity	p.L656F(2)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GCTGCCTGGAGCAGCTGGGTT	0.552000													6	87					0	0	0.000157383	0	0
FCRL5	83416	broad.mit.edu	37	1	157494111	157494111	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:157494111G>C	ENST00000361835.3	-	10	2354	c.2197C>G	c.(2197-2199)Ctg>Gtg	p.L733V	FCRL5_ENST00000368191.3_Missense_Mutation_p.L648V|FCRL5_ENST00000356953.4_Missense_Mutation_p.L733V|FCRL5_ENST00000368190.3_Missense_Mutation_p.L733V	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	733	Ig-like C2-type 7.			L -> P (in Ref. 1; AAK50059).		integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TGGGCCTCCAGACCATTGTCT	0.567000													12	59					0	0	0.000978159	0	0
FLG2	388698	broad.mit.edu	37	1	152323904	152323904	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:152323904T>A	ENST00000388718.5	-	3	6430	c.6358A>T	c.(6358-6360)Aca>Tca	p.T2120S	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2120							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGAATGTGTGTGTGAGACC	0.527000													71	353					0	0	0.000781405	0	0
IGLV2-8	28817	broad.mit.edu	37	22	23165510	23165510	+	RNA	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr22:23165510C>T	ENST00000390317.2	+	0	243																											CTCAGCCTCCCTCCGCGTCCG	0.592000													22	198					0	0	0.000586117	0	0
MAGEE1	57692	broad.mit.edu	37	X	75650135	75650135	+	Missense_Mutation	SNP	G	G	C			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:75650135G>C	ENST00000361470.2	+	1	2090	c.1812G>C	c.(1810-1812)tgG>tgC	p.W604C		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	604	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGAGATTTGGGAAATGCTCT	0.502000													4	29					0	0	0.00024832	0	0
PEAR1	375033	broad.mit.edu	37	1	156873742	156873742	+	Silent	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:156873742C>A	ENST00000338302.3	+	3	249	c.24C>A	c.(22-24)ctC>ctA	p.L8L	PEAR1_ENST00000292357.7_Silent_p.L8L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	8						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGTGTCCCCTCCTTCTCCTGG	0.642000													14	84					2.23348e-06	3.38232e-05	0.000422831	1	0
THOC2	57187	broad.mit.edu	37	X	122756691	122756691	+	Nonsense_Mutation	SNP	G	G	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chrX:122756691G>A	ENST00000245838.8	-	30	3734	c.3703C>T	c.(3703-3705)Cag>Tag	p.Q1235*	THOC2_ENST00000491737.1_Nonsense_Mutation_p.Q1120*|THOC2_ENST00000355725.4_Nonsense_Mutation_p.Q1235*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1235					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACACCACACTGAGATCTCTCC	0.358000													10	27					0	0	0.000442599	0	0
TTN	7273	broad.mit.edu	37	2	179613587	179613587	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:179613587C>A	ENST00000360870.5	-	46	13762	c.13540G>T	c.(13540-13542)Gca>Tca	p.A4514S	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	644	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTCTCTGCCTGATACATA	0.323000													6	44					8.12818e-05	0.00116401	8.12818e-05	1	0
CAPZA3	93661	broad.mit.edu	37	12	18892101	18892101	+	Silent	SNP	A	A	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr12:18892101A>G	ENST00000317658.3	+	1	1057	c.899A>G	c.(898-900)tAa>tGa	p.*300*		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	0					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				TGGATAATATAAAGAATTGCT	0.353000													7	40					0	0	0.000673444	0	0
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs138265355	by1000genomes	TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532000													6	65					0	0	8.12818e-05	0	0
PUS7	54517	broad.mit.edu	37	7	105146653	105146653	+	Missense_Mutation	SNP	T	T	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr7:105146653T>A	ENST00000356362.2	-	3	680	c.466A>T	c.(466-468)Att>Ttt	p.I156F	PUS7_ENST00000469408.1_Missense_Mutation_p.I156F	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	156					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TCCACTGGAATGGACAAGTCA	0.348000													18	59					0	0	0.000958276	0	0
ENAH	55740	broad.mit.edu	37	1	225706984	225706984	+	Missense_Mutation	SNP	G	G	A	rs142024814		TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:225706984G>A	ENST00000366844.2	-	5	1169	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	ENAH_ENST00000284563.6_Missense_Mutation_p.R259W|ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.R240W	NM_001008493.1	NP_001008493.1	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)	240					axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding	p.R240W(1)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		TGCCTCTCCCGTTCCAGTCTC	0.552000													19	294					0	0	0.000132079	0	0
CEP57	9702	broad.mit.edu	37	11	95532445	95532445	+	Missense_Mutation	SNP	C	C	T	rs139110744	byFrequency	TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr11:95532445C>T	ENST00000325542.5	+	2	333	c.95C>T	c.(94-96)tCt>tTt	p.S32F	CEP57_ENST00000537677.1_Missense_Mutation_p.S5F|CEP57_ENST00000538658.1_Missense_Mutation_p.S32F|CEP57_ENST00000541150.1_Missense_Mutation_p.S23F|CEP57_ENST00000325486.5_Missense_Mutation_p.S32F	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	32					fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTTCGGCATTCTTCATCTCCA	0.408000									Mosaic Variegated Aneuploidy Syndrome				5	68					0	0	0.000602214	0	0
ZNF425	155054	broad.mit.edu	37	7	148802569	148802569	+	Missense_Mutation	SNP	C	C	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr7:148802569C>G	ENST00000378061.2	-	4	526	c.394G>C	c.(394-396)Gag>Cag	p.E132Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	132					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATCTTTCTCTCTTTCCCTCGT	0.433000													4	122					0	0	0.00024832	0	0
CLEC16A	23274	broad.mit.edu	37	16	11114107	11114107	+	Missense_Mutation	SNP	C	C	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr16:11114107C>T	ENST00000409790.1	+	12	1591	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F	CLEC16A_ENST00000409552.3_Missense_Mutation_p.S436F	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	454								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCAGCACCTCCGTGCAGGAG	0.592000													6	33					0	0	3.59834e-05	0	0
TOPORS	10210	broad.mit.edu	37	9	32542697	32542697	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr9:32542697C>A	ENST00000360538.2	-	3	1942	c.1826G>T	c.(1825-1827)gGg>gTg	p.G609V	TOPORS_ENST00000379858.1_Missense_Mutation_p.G544V	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	609	Arg-rich.|Interaction with SUMO1.|Interaction with TOP1.|Interaction with p53/TP53.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CTGATCATGCCCACTTCTACT	0.413000													8	235					0.000274275	0.00378385	0.000274275	1	0
ZSCAN29	146050	broad.mit.edu	37	15	43653495	43653495	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr15:43653495C>A	ENST00000396976.2	-	5	2469	c.2335G>T	c.(2335-2337)Gca>Tca	p.A779S	ZSCAN29_ENST00000396972.1_Missense_Mutation_p.A390S|ZSCAN29_ENST00000562072.1_3'UTR|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.A389S	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	779					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CTCCGATGTGCACTAAAATGA	0.448000													8	82					1.12685e-05	0.000164958	0.000274275	1	0
TRMU	55687	broad.mit.edu	37	22	46752863	46752863	+	Missense_Mutation	SNP	A	A	G			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr22:46752863A>G	ENST00000290846.4	+	11	1566	c.1226A>G	c.(1225-1227)gAc>gGc	p.D409G	TRMU_ENST00000381019.3_3'UTR	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	409						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		AGCCCCAGTGACAGCCCAGAA	0.642000													3	32					0	0	6.4e-05	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139373	142139373	+	RNA	SNP	G	G	T			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr7:142139373G>T	ENST00000390374.3	-	0	296																											TCTCTGCAGAGAACCGATCAT	0.562000													10	74					0.000442599	0.00598077	0.000442599	1	0
TTC5	91875	broad.mit.edu	37	14	20763529	20763529	+	Missense_Mutation	SNP	C	C	A			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr14:20763529C>A	ENST00000258821.3	-	8	1056	c.1000G>T	c.(1000-1002)Ggt>Tgt	p.G334C		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	334					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		ATGACGGCACCGCTGTTCACC	0.532000													9	38					0.000442599	0.00598077	0.000442599	1	0
PRG4	10216	broad.mit.edu	37	1	186276143	186276145	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr1:186276143_186276145delCTC	ENST00000445192.2	+	7	1337_1339	c.1292_1294delCTC	c.(1291-1296)acc>a	p.TP431del	PRG4_ENST00000367485.4_In_Frame_Del_p.TP338del|PRG4_ENST00000367483.4_In_Frame_Del_p.TP390del|PRG4_ENST00000367486.3_In_Frame_Del_p.TP388del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	431	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAGGAGCC	0.655													7	73	---	---	---	---					
RRM2	6241	broad.mit.edu	37	2	10267088	10267088	+	Frame_Shift_Del	DEL	C	C	-			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr2:10267088delC	ENST00000360566.2	+	6	1127	c.836delC	c.(835-837)gtfs	p.A279fs	RRM2_ENST00000304567.5_Frame_Shift_Del_p.A219fs	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	219					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		GACAAAGAGGCTACCTATGGT	0.453													23	110	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521769	32521771	+	RNA	DEL	ATT	ATT	-	rs77824792	by1000genomes	TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr6:32521769_32521771delATT	ENST00000411500.1	-	0	740					NR_001298.1																						AGGTTTAGTGATTTTTATTCCAA	0.429													8	8	---	---	---	---					
FAM66B	100128890	broad.mit.edu	37	8	7191583	7191584	+	RNA	DEL	AC	AC	-			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr8:7191583_7191584delAC	ENST00000606573.1	-	0	703																											acgcacgcaaacacacacacac	0.510													2	4	---	---	---	---					
PGM5	5239	broad.mit.edu	37	9	71080103	71080103	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr9:71080103delG	ENST00000396396.1	+	7	1367	c.1138delG	c.(1138-1140)ggfs	p.G380fs	PGM5_ENST00000396392.1_Frame_Shift_Del_p.G380fs	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	380					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CAATCTGTGTGGGGAAGAGAG	0.483													22	47	---	---	---	---					
CACNA2D4	93589	broad.mit.edu	37	12	1965249	1965249	+	Frame_Shift_Del	DEL	G	G	-			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr12:1965249delG	ENST00000382722.5	-	22	2443	c.2081delC	c.(2080-2082)cafs	p.P694fs	CACNA2D4_ENST00000587995.1_Frame_Shift_Del_p.P669fs|CACNA2D4_ENST00000586184.1_Frame_Shift_Del_p.P694fs|CACNA2D4_ENST00000539048.2_5'UTR|CACNA2D4_ENST00000588077.1_Frame_Shift_Del_p.P630fs|CACNA2D4_ENST00000585708.1_Frame_Shift_Del_p.P630fs|CACNA2D4_ENST00000585732.1_Frame_Shift_Del_p.P555fs	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	694						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CCGGTGGTCTGGGTCAATATC	0.532													9	66	---	---	---	---					
VPS4A	27183	broad.mit.edu	37	16	69354959	69354959	+	Frame_Shift_Del	DEL	A	A	-			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr16:69354959delA	ENST00000254950.11	+	9	1013	c.857delA	c.(856-858)gafs	p.E286fs	COG8_ENST00000564419.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	286					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TCTAGGTTTGAAAAACGAATT	0.542													2	4	---	---	---	---					
TVP23B	51030	broad.mit.edu	37	17	18694214	18694215	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-55-6979-01A-11D-1945-08	TCGA-55-6979-11A-01D-1945-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f246196-f56a-4c81-9ec9-18326dda0b05	e0e09b0c-f948-4919-95fb-5113d82769d6	g.chr17:18694214_18694215delCA	ENST00000307767.8	+	3	400_401	c.101_102delCA	c.(100-102)cfs	p.P34fs	TVP23B_ENST00000581733.1_5'UTR|TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000574226.1_Frame_Shift_Del_p.P34fs	NM_016078.4	NP_057162.4			trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)																		TTCAGACATCCAGTAGCATCGT	0.381													38	135	---	---	---	---