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
CLRN3	119467	broad.mit.edu	37	10	129676535	129676535	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:129676535C>A	ENST00000368671.3	-	3	721	c.559G>T	c.(559-561)Gtc>Ttc	p.V187F		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	187						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGAAGAATGACGAGCAGTATG	0.468000													36	74					4.65686e-17	5.99336e-17	0.017118	1	0
LRFN5	145581	broad.mit.edu	37	14	42360955	42360955	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:42360955C>A	ENST00000298119.4	+	4	3077	c.1888C>A	c.(1888-1890)Cct>Act	p.P630T	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	630						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCTGCTTTGCCTCCTTCCTG	0.458000										HNSCC(30;0.082)			15	40					2.31682e-05	2.48107e-05	0.003163	1	0
TMC3	342125	broad.mit.edu	37	15	81627180	81627180	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:81627180C>G	ENST00000558726.1	-	21	2478	c.2343G>C	c.(2341-2343)aaG>aaC	p.K781N	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.K780N|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	780						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCCTGCCACTCTTGCTGCTCC	0.607000													4	101					0	0	0.014758	0	0
MUC16	94025	broad.mit.edu	37	19	9061355	9061355	+	Silent	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:9061355A>T	ENST00000397910.4	-	3	26294	c.26091T>A	c.(26089-26091)acT>acA	p.T8697T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8699	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGTCATCATAGTTTCTGGGA	0.483000													19	54					0	0	0.014323	0	0
RP11-80F22.9	0	broad.mit.edu	37	16	34712204	34712204	+	RNA	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:34712204C>T	ENST00000569028.2	-	0	1150																											TGAATGGGGTCAGGGTGCACC	0.512000													3	26					0	0	0.004672	0	0
ZFP30	22835	broad.mit.edu	37	19	38134173	38134173	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:38134173C>T	ENST00000351218.2	-	5	785	c.228G>A	c.(226-228)tgG>tgA	p.W76*	ZFP30_ENST00000514101.2_Nonsense_Mutation_p.W76*|ZFP30_ENST00000392144.1_Nonsense_Mutation_p.W76*|ZFP30_ENST00000589018.1_Nonsense_Mutation_p.W75*	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TACCTAGAGTCCATCTTCTTT	0.468000													31	181					0	0	0.015359	0	0
OR4C3	256144	broad.mit.edu	37	11	48347185	48347185	+	Silent	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:48347185C>A	ENST00000319856.4	+	1	714	c.693C>A	c.(691-693)atC>atA	p.I231I		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						GTGGTTTAATCTGCCTGTTGA	0.502000													15	67					7.93312e-07	8.89377e-07	0.020292	1	0
CXXC11	285093	broad.mit.edu	37	2	242814574	242814574	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:242814574C>T	ENST00000343216.3	+	2	895	c.867C>T	c.(865-867)ctC>ctT	p.L289L		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	289						integral to membrane											AGGGCTTCCTCTTCAAAGGCC	0.677000													13	99					0	0	0.013537	0	0
IGHV5-51	28388	broad.mit.edu	37	14	107034903	107034903	+	RNA	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:107034903C>A	ENST00000390626.2	-	0	235																											CTTTCCCGGGCATCTGGCGCA	0.567000													20	39					4.96729e-08	5.61265e-08	0.008871	1	0
ASTN1	460	broad.mit.edu	37	1	177133755	177133755	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:177133755G>A	ENST00000367654.2	-	1	71	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.L20L|ASTN1_ENST00000361833.2_Silent_p.L20L|ASTN1_ENST00000367657.3_Silent_p.L20L			O14525	ASTN1_HUMAN	astrotactin 1	20					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCCGTGGCCAGCACCGCCGCC	0.692000													5	19					0	0	0.014758	0	0
SOS1	6654	broad.mit.edu	37	2	39281778	39281778	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:39281778T>A	ENST00000426016.1	-	6	783	c.697A>T	c.(697-699)Aat>Tat	p.N233Y	SOS1_ENST00000428721.2_Missense_Mutation_p.N176Y|SOS1_ENST00000402219.2_Missense_Mutation_p.N233Y|SOS1_ENST00000395038.2_Missense_Mutation_p.N233Y			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	233	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.N233Y(5)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AATTTTGAATTGGAGACAAAG	0.299000									Noonan syndrome				17	21					0	0	0.004007	0	0
PUM2	23369	broad.mit.edu	37	2	20455932	20455932	+	Splice_Site	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:20455932C>T	ENST00000361078.2	-	16	2513		c.e16-1		PUM2_ENST00000338086.5_Splice_Site|PUM2_ENST00000319801.5_Splice_Site|PUM2_ENST00000536417.1_Splice_Site|PUM2_ENST00000403432.1_Splice_Site			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2						regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTTCACTCTGCAAAAGAC	0.313000													13	52					0	0	0.020292	0	0
MFAP4	4239	broad.mit.edu	37	17	19289684	19289684	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:19289684G>A	ENST00000395592.2	-	3	322	c.251C>T	c.(250-252)tCg>tTg	p.S84L	MFAP4_ENST00000497081.2_Missense_Mutation_p.S85L|MFAP4_ENST00000299610.4_Missense_Mutation_p.S60L	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	60	Fibrinogen C-terminal.				cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					ACTGGGGCCCGAGGGGTAGAT	0.617000													4	28					0	0	0.009096	0	0
SLC12A2	6558	broad.mit.edu	37	5	127503468	127503468	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:127503468C>T	ENST00000262461.2	+	18	2821	c.2632C>T	c.(2632-2634)Cgt>Tgt	p.R878C	SLC12A2_ENST00000343225.4_Missense_Mutation_p.R878C	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	878					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGGTCTTGGTCGTATGAAGCC	0.333000													7	46					0	0	0.003080	0	0
BEGAIN	57596	broad.mit.edu	37	14	101005469	101005469	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:101005469G>T	ENST00000556751.1	-	5	3831	c.427C>A	c.(427-429)Ctg>Atg	p.L143M	BEGAIN_ENST00000355173.2_Missense_Mutation_p.L207M|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000443071.2_Missense_Mutation_p.L207M			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	207						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CAGAAGGCCAGGTCGCGGGCG	0.692000													4	18					1.23904e-05	1.35211e-05	0.014758	1	0
WBSCR28	135886	broad.mit.edu	37	7	73280063	73280063	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:73280063G>C	ENST00000320531.2	+	3	694	c.658G>C	c.(658-660)Gag>Cag	p.E220Q		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	220						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GGCTGCCTTTGAGCACACGAC	0.632000													30	233					0	0	0.006320	0	0
RGAG1	57529	broad.mit.edu	37	X	109695638	109695638	+	Nonsense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chrX:109695638C>G	ENST00000465301.2	+	3	2039	c.1793C>G	c.(1792-1794)tCa>tGa	p.S598*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.S598*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	598										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GACACAGCCTCAGGAGTGATG	0.502000													30	33					0	0	0.008361	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	30					0	0	0.004672	0	0
AOC4P	90586	broad.mit.edu	37	17	41020748	41020748	+	RNA	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:41020748G>C	ENST00000585538.1	+	0	1587					NR_002773.1																						TGGGGCCATAGAAATCAGACT	0.527000													6	17					0	0	0.001168	0	0
ATF7IP	55729	broad.mit.edu	37	12	14577906	14577906	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:14577906G>A	ENST00000544627.1	+	2	1401	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000540793.1_Missense_Mutation_p.E353K|ATF7IP_ENST00000261168.4_Missense_Mutation_p.E353K|ATF7IP_ENST00000543189.1_Missense_Mutation_p.E353K|ATF7IP_ENST00000536444.1_Missense_Mutation_p.E353K			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	353	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGAAACTCTAGAAACAGATGA	0.333000													19	75					0	0	0.007413	0	0
OR2M5	127059	broad.mit.edu	37	1	248309181	248309181	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:248309181C>A	ENST00000366476.1	+	1	732	c.732C>A	c.(730-732)caC>caA	p.H244Q		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	244			H -> N (found in a renal cell carcinoma sample; somatic mutation).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	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;0.0388)			GTTCCTCTCACCTCATGGTGG	0.488000													64	197					1.74971e-23	2.293e-23	0.014410	1	0
OR8K1	390157	broad.mit.edu	37	11	56113845	56113845	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:56113845G>C	ENST00000279783.2	+	1	425	c.331G>C	c.(331-333)Gag>Cag	p.E111Q		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					AGCATTCTTTGAGATTTTCAT	0.408000										HNSCC(65;0.19)			15	165					0	0	0.004990	0	0
TMEM132C	92293	broad.mit.edu	37	12	128899644	128899644	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:128899644C>T	ENST00000435159.2	+	2	453	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	151						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AGGTTCTTTTCCACATCATGG	0.532000													7	9					0	0	0.004482	0	0
PCDH1	5097	broad.mit.edu	37	5	141248806	141248806	+	Silent	SNP	G	G	A	rs113157473		TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:141248806G>A	ENST00000287008.3	-	2	378	c.231C>T	c.(229-231)ctC>ctT	p.L77L	PCDH1_ENST00000456271.1_Silent_p.L77L|PCDH1_ENST00000536585.1_Silent_p.L55L|PCDH1_ENST00000503492.1_Silent_p.L77L|PCDH1_ENST00000394536.3_Silent_p.L77L	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	77	Cadherin 1.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		AGTCGGCTGCGAGGCTCCCAA	0.597000													6	24					0	0	0.001168	0	0
TJP3	27134	broad.mit.edu	37	19	3730104	3730104	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:3730104G>C	ENST00000541714.2	+	4	699	c.237G>C	c.(235-237)aaG>aaC	p.K79N	TJP3_ENST00000587686.1_Missense_Mutation_p.K98N|TJP3_ENST00000539908.2_Missense_Mutation_p.K43N|TJP3_ENST00000382008.3_Missense_Mutation_p.K79N|TJP3_ENST00000589378.1_Missense_Mutation_p.K88N|TJP3_ENST00000262968.9_Missense_Mutation_p.K98N	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	79	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATACTCAAGACCTGCACCA	0.592000													17	64					0	0	0.004990	0	0
SMURF1	57154	broad.mit.edu	37	7	98655126	98655126	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:98655126C>G	ENST00000361125.1	-	4	571	c.252G>C	c.(250-252)aaG>aaC	p.K84N	SMURF1_ENST00000361368.2_Missense_Mutation_p.K84N|SMURF1_ENST00000480055.1_5'UTR	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	84	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGTGAATTTTCTTATGGTTCC	0.408000													9	59					0	0	0.004482	0	0
SON	6651	broad.mit.edu	37	21	34925451	34925451	+	Missense_Mutation	SNP	T	T	C	rs146846126	by1000genomes	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr21:34925451T>C	ENST00000356577.4	+	3	4389	c.3914T>C	c.(3913-3915)aTg>aCg	p.M1305T	SON_ENST00000381679.4_Missense_Mutation_p.M1305T|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.M1305T|SON_ENST00000300278.4_Missense_Mutation_p.M1305T	NM_138927.1	NP_620305.1	P18583	SON_HUMAN	SON DNA binding protein	1305					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CCTCCTGTTATGTCAGAGACA	0.463000													20	54					0	0	0.007413	0	0
MUC16	94025	broad.mit.edu	37	19	9069180	9069180	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:9069180G>C	ENST00000397910.4	-	3	18469	c.18266C>G	c.(18265-18267)tCa>tGa	p.S6089*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6091	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						CTCTGTAGTTGAGTTCATCAC	0.488000													5	67					0	0	0.014758	0	0
FAM83B	222584	broad.mit.edu	37	6	54805720	54805720	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:54805720C>G	ENST00000306858.7	+	5	2067	c.1951C>G	c.(1951-1953)Cta>Gta	p.L651V		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	651										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GACAGAAAATCTAAAGAATCA	0.338000													9	54					0	0	0.006214	0	0
LPIN3	64900	broad.mit.edu	37	20	39977393	39977393	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:39977393G>A	ENST00000373257.3	+	4	514	c.423G>A	c.(421-423)cgG>cgA	p.R141R		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	141					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCACTGGGCGGAGGAAGAGGC	0.627000													4	29					0	0	0.009096	0	0
FAHD1	81889	broad.mit.edu	37	16	1877419	1877419	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:1877419G>A	ENST00000382666.4	+	1	452	c.189G>A	c.(187-189)gcG>gcA	p.A63A	FAHD1_ENST00000382668.4_Silent_p.A63A|FAHD1_ENST00000427358.2_Silent_p.A63A	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	63						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						TCATGCCCGCGTACACTCGCA	0.697000													4	78					0	0	0.014758	0	0
LRP1	4035	broad.mit.edu	37	12	57569388	57569388	+	Silent	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:57569388C>G	ENST00000243077.3	+	23	4159	c.3693C>G	c.(3691-3693)ctC>ctG	p.L1231L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1231	EGF-like 6.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAAGCATCTCAAATGCAGCC	0.607000											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	80					0	0	0.001984	0	0
FRG2B	441581	broad.mit.edu	37	10	135440196	135440196	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:135440196G>C	ENST00000443774.1	-	1	100	c.51C>G	c.(49-51)tgC>tgG	p.C17W	FRG2B_ENST00000425520.1_Missense_Mutation_p.C17W			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	17						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGTCAGTGGAGCACTGGATGG	0.502000													12	259					0	0	0.003163	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	by1000genomes	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1																						CCAGCCTTCTGTAACCCAGTA	0.428000													4	34					0	0	0.001168	0	0
NDUFAF3	25915	broad.mit.edu	37	3	49060179	49060179	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:49060179C>T	ENST00000326925.6	+	3	1449	c.315C>T	c.(313-315)ttC>ttT	p.F105F	NDUFAF3_ENST00000395458.2_Silent_p.F48F|NDUFAF3_ENST00000451378.2_Silent_p.F48F|NDUFAF3_ENST00000326912.4_Silent_p.F48F	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	105					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TTTCCCTCTTCTGGTTGCTGG	0.582000													24	223					0	0	0.016522	0	0
CTNNA2	1496	broad.mit.edu	37	2	80620354	80620354	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:80620354G>T	ENST00000466387.1	+	12	1799	c.1075G>T	c.(1075-1077)Gga>Tga	p.G359*	CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.G393*|CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.G359*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.G38*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.G359*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.G359*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.G359*			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	359					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GAAAGAAAAAGGAGATCCTCT	0.279000													17	58					3.51602e-12	4.27583e-12	0.008871	1	0
MYO16	23026	broad.mit.edu	37	13	109550455	109550455	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr13:109550455G>A	ENST00000356711.2	+	15	1811	c.1685G>A	c.(1684-1686)tGt>tAt	p.C562Y	MYO16_ENST00000251041.5_Missense_Mutation_p.C562Y|MYO16_ENST00000357550.2_Missense_Mutation_p.C562Y|MYO16_ENST00000457511.2_Missense_Mutation_p.C74Y	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	562	Myosin head-like 1.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CTGCAGTTCTGTGAGAGGAAA	0.488000													13	41					0	0	0.013537	0	0
KLHL34	257240	broad.mit.edu	37	X	21675838	21675838	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chrX:21675838G>T	ENST00000379499.2	-	1	610	c.69C>A	c.(67-69)cgC>cgA	p.R23R		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	23										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						AGCCCTCGGCGCGCAGGGCCT	0.647000													13	7					0.000151284	0.000157886	0.016723	1	0
TGFBR1	7046	broad.mit.edu	37	9	101900314	101900314	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:101900314C>G	ENST00000374994.4	+	4	865	c.748C>G	c.(748-750)Caa>Gaa	p.Q250E	TGFBR1_ENST00000550253.1_Missense_Mutation_p.Q181E|TGFBR1_ENST00000552516.1_Missense_Mutation_p.Q254E|TGFBR1_ENST00000374990.2_Missense_Mutation_p.Q173E	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	250	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AGAGATTTATCAAACTGTAAT	0.393000													15	51					0	0	0.003163	0	0
LUM	4060	broad.mit.edu	37	12	91502497	91502497	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:91502497T>A	ENST00000266718.4	-	2	714	c.260A>T	c.(259-261)gAg>gTg	p.E87V	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	87					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AGTTACATTCTCAAAGGCCTT	0.378000													11	47					0	0	0.013537	0	0
DOCK9	23348	broad.mit.edu	37	13	99508166	99508166	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr13:99508166T>C	ENST00000376460.1	-	34	3897	c.3817A>G	c.(3817-3819)Aat>Gat	p.N1273D	DOCK9_ENST00000448493.2_Missense_Mutation_p.N1285D|DOCK9_ENST00000339416.2_Missense_Mutation_p.N1274D	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1274					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCCAGGGAATTGCTCTTCTCA	0.393000													48	90					0	0	0.014410	0	0
NIPBL	25836	broad.mit.edu	37	5	37063937	37063937	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:37063937G>A	ENST00000282516.8	+	46	8405	c.7906G>A	c.(7906-7908)Gaa>Aaa	p.E2636K	NIPBL_ENST00000448238.2_Missense_Mutation_p.E2636K	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2636					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGAAGAAGAAGAAGGGGAGGT	0.388000													11	27					0	0	0.010729	0	0
ZBTB24	9841	broad.mit.edu	37	6	109787446	109787446	+	Missense_Mutation	SNP	C	C	A	rs144754453	byFrequency	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:109787446C>A	ENST00000230122.3	-	7	1869	c.1702G>T	c.(1702-1704)Ggt>Tgt	p.G568C		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		TGGCTAGGACCGGGCATGAAA	0.488000													29	67					4.59853e-10	5.38685e-10	0.005443	1	0
MRPL33	9553	broad.mit.edu	37	2	27997375	27997375	+	Silent	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:27997375T>A	ENST00000296102.3	+	3	187	c.126T>A	c.(124-126)acT>acA	p.T42T	MRPL33_ENST00000483992.1_Intron|MRPL33_ENST00000379666.3_Intron	NM_004891.3	NP_004882.1	O75394	RM33_HUMAN	mitochondrial ribosomal protein L33	42					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|large_intestine(1)	2	Acute lymphoblastic leukemia(172;0.155)					AAAAACTGACTCTTTTGCATT	0.458000													19	72					0	0	0.008871	0	0
MAP3K6	9064	broad.mit.edu	37	1	27687484	27687484	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:27687484G>C	ENST00000374040.3	-	13	2084	c.1824C>G	c.(1822-1824)atC>atG	p.I608M	MAP3K6_ENST00000493901.1_Missense_Mutation_p.I616M|MAP3K6_ENST00000357582.2_Missense_Mutation_p.I616M			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	616					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCAGGCCTGGATCAGGCCGC	0.692000													10	11					0	0	0.008291	0	0
IGKV1-12	28940	broad.mit.edu	37	2	89339943	89339943	+	RNA	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:89339943G>T	ENST00000480492.1	-	0	175																											CCCGACAAGTGATGGTGACTC	0.498000													53	256					2.22609e-26	2.97157e-26	0.014410	1	0
PPP4R4	57718	broad.mit.edu	37	14	94697044	94697044	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:94697044C>G	ENST00000304338.3	+	4	569	c.415C>G	c.(415-417)Ctc>Gtc	p.L139V	PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	139						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCAAGTCATTCTCCTGCATCT	0.418000													18	58					0	0	0.010504	0	0
FRMPD2	143162	broad.mit.edu	37	10	49447710	49447710	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:49447710C>T	ENST00000374201.3	-	7	1028	c.726G>A	c.(724-726)caG>caA	p.Q242Q	FRMPD2_ENST00000305531.3_Silent_p.Q218Q|FRMPD2_ENST00000407470.4_Silent_p.Q211Q	NM_001018071.3	NP_001018081.3	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	242					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGGTGAGCTCTGGGTCTCCG	0.512000													3	29					0	0	0.009096	0	0
ZNF33A	7581	broad.mit.edu	37	10	38343844	38343844	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:38343844C>G	ENST00000374618.3	+	5	970	c.792C>G	c.(790-792)ttC>ttG	p.F264L	ZNF33A_ENST00000458705.2_Missense_Mutation_p.F263L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.F270L|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.F263L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CCCTCTTGTTCCATCAGATAT	0.388000													16	54					0	0	0.003163	0	0
SYNE2	23224	broad.mit.edu	37	14	64416616	64416616	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:64416616C>T	ENST00000358025.3	+	7	712	c.482C>T	c.(481-483)tCa>tTa	p.S161L	SYNE2_ENST00000341472.5_Missense_Mutation_p.S161L|SYNE2_ENST00000344113.4_Missense_Mutation_p.S161L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S161L|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000356081.3_Missense_Mutation_p.S161L	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	161	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTGGTTGACTCATCTCCTGCC	0.458000													54	188					0	0	0.014410	0	0
GREM1	26585	broad.mit.edu	37	15	33022958	33022958	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:33022958G>A	ENST00000300177.4	+	2	256	c.67G>A	c.(67-69)Gaa>Aaa	p.E23K	GREM1_ENST00000560830.1_Missense_Mutation_p.E23K|GREM1_ENST00000322805.4_Missense_Mutation_p.E23K|GREM1_ENST00000560677.1_Missense_Mutation_p.E23K	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	23					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GCCGGCTGCTGAAGGGAAAAA	0.607000													13	52					0	0	0.016723	0	0
KIFC1	3833	broad.mit.edu	37	6	33374114	33374114	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:33374114C>T	ENST00000428849.2	+	8	2128	c.1678C>T	c.(1678-1680)Ccc>Tcc	p.P560S		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	560	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTGTGGGGCCCCCCTCAGTCT	0.642000													64	187					0	0	0.014410	0	0
TBC1D19	55296	broad.mit.edu	37	4	26741526	26741526	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:26741526G>A	ENST00000264866.4	+	17	1436	c.1158G>A	c.(1156-1158)ttG>ttA	p.L386L	TBC1D19_ENST00000511789.1_Silent_p.L321L	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	386	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				CTTCCAAATTGTATCAGATAT	0.303000													23	67					0	0	0.018920	0	0
RYR1	6261	broad.mit.edu	37	19	38939051	38939051	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:38939051C>A	ENST00000355481.4	+	10	988	c.857C>A	c.(856-858)aCc>aAc	p.T286N	RYR1_ENST00000360985.3_Missense_Mutation_p.T286N|RYR1_ENST00000359596.3_Missense_Mutation_p.T286N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	286	MIR 4.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CATGTCACTACCGGGCAGTAC	0.647000													44	109					1.8453e-21	2.39638e-21	0.010771	1	0
PREPL	9581	broad.mit.edu	37	2	44553939	44553939	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:44553939G>T	ENST00000541738.1	-	10	1777	c.1391C>A	c.(1390-1392)aCa>aAa	p.T464K	PREPL_ENST00000410081.1_Missense_Mutation_p.T553K|PREPL_ENST00000409936.1_Missense_Mutation_p.T553K|PREPL_ENST00000409957.1_Missense_Mutation_p.T464K|PREPL_ENST00000409411.1_Missense_Mutation_p.T464K|PREPL_ENST00000409272.1_Missense_Mutation_p.T553K|PREPL_ENST00000378511.3_Missense_Mutation_p.T491K|PREPL_ENST00000260648.6_Missense_Mutation_p.T553K|PREPL_ENST00000378520.3_Missense_Mutation_p.T487K	NM_001171617.1	NP_001165088.1	Q4J6C6	PPCEL_HUMAN	prolyl endopeptidase-like	553					proteolysis	cytosol	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(19)|ovary(1)|prostate(1)|skin(2)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGTCAGGGTTGTTAGACTTGG	0.502000													28	55					4.87955e-14	6.06248e-14	0.005443	1	0
ADCY1	107	broad.mit.edu	37	7	45632476	45632476	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:45632476G>T	ENST00000297323.7	+	2	780	c.758G>T	c.(757-759)cGa>cTa	p.R253L	ADCY1_ENST00000432715.1_Missense_Mutation_p.R28L	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	253					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	ATTGAGGACCGACTGAGGCTG	0.592000													33	50					2.20262e-25	2.92663e-25	0.013726	1	0
CEP89	84902	broad.mit.edu	37	19	33370214	33370214	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:33370214G>A	ENST00000305768.4	-	19	2294	c.2206C>T	c.(2206-2208)Ctc>Ttc	p.L736F		NM_032816.3	NP_116205.3	Q96ST8	CEP89_HUMAN	centrosomal protein 89kDa	736						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						GTGTCCTGGAGAAGTTCTCGG	0.512000													19	165					0	0	0.007413	0	0
TRIM48	79097	broad.mit.edu	37	11	55033101	55033101	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:55033101C>A	ENST00000417545.2	+	3	571	c.485C>A	c.(484-486)tCt>tAt	p.S162Y		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	146						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AAAATGCAGTCTTTATGGGAA	0.423000													3	27					6.4e-05	6.75294e-05	0.004672	1	0
OR4S2	219431	broad.mit.edu	37	11	55419086	55419086	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:55419086C>A	ENST00000312422.2	+	1	707	c.707C>A	c.(706-708)tCc>tAc	p.S236Y		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S236Y(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAAGCCCTCTCCACCTGTGGC	0.493000													34	93					2.80507e-11	3.36843e-11	0.012213	1	0
UNC5B	219699	broad.mit.edu	37	10	73045160	73045160	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:73045160C>T	ENST00000335350.6	+	4	942	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P176S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	176	Ig-like C2-type.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						GCAGTGCCGCCCGCCGGAGGG	0.657000											OREG0020248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0	0	0.004672	0	0
CLSTN1	22883	broad.mit.edu	37	1	9811565	9811565	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:9811565G>A	ENST00000377298.4	-	5	1407	c.615C>T	c.(613-615)atC>atT	p.I205I	CLSTN1_ENST00000377288.3_Silent_p.I205I|CLSTN1_ENST00000361311.4_Silent_p.I195I	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	205	Cadherin 2.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CGTCTGGAGTGATGATTTCGT	0.532000													4	56					0	0	0.009096	0	0
GRIN2B	2904	broad.mit.edu	37	12	13769541	13769541	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:13769541G>T	ENST00000279593.3	-	5	1385	c.1176C>A	c.(1174-1176)ccC>ccA	p.P392P		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	392					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACACATTCGGGGCCACACAT	0.502000													24	88					2.39556e-15	3.02875e-15	0.016522	1	0
FCGRT	2217	broad.mit.edu	37	19	50027842	50027842	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:50027842A>G	ENST00000221466.5	+	5	1166	c.680A>G	c.(679-681)tAc>tGc	p.Y227C	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Missense_Mutation_p.Y135C|FCGRT_ENST00000426395.3_Missense_Mutation_p.Y227C	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	227	Alpha-3.				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TTCTCCTTCTACCCTCCGGAG	0.652000													16	57					0	0	0.003163	0	0
TMEM38A	79041	broad.mit.edu	37	19	16798999	16798999	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:16798999C>T	ENST00000187762.2	+	6	808	c.717C>T	c.(715-717)gcC>gcT	p.A239A		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	239						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CCTTTGATGCCCTGGAGGGCT	0.622000													83	312					0	0	0.014410	0	0
IGHV4-59	28392	broad.mit.edu	37	14	107083432	107083432	+	RNA	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:107083432G>T	ENST00000455737.1	-	0	211																											CCTGGGGGCTGCCGGATCCAG	0.567000													30	173					4.62619e-21	5.9807e-21	0.019004	1	0
TAAR1	134864	broad.mit.edu	37	6	132966648	132966648	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:132966648G>A	ENST00000275216.1	-	1	494	c.495C>T	c.(493-495)ttC>ttT	p.F165F		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	165						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	CAGCGCCTTTGAAGTTTAGCT	0.388000													7	52					0	0	0.001984	0	0
PURG	29942	broad.mit.edu	37	8	30889608	30889608	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:30889608C>G	ENST00000475541.1	-	1	1623	c.691G>C	c.(691-693)Gag>Cag	p.E231Q	PURG_ENST00000339382.2_Missense_Mutation_p.E231Q	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	231						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		TCACGAAACTCAATCATTCCT	0.493000													5	81					0	0	0.014758	0	0
MEGF10	84466	broad.mit.edu	37	5	126770413	126770413	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:126770413C>A	ENST00000274473.6	+	16	2142	c.1875C>A	c.(1873-1875)agC>agA	p.S625R	MEGF10_ENST00000503335.2_Missense_Mutation_p.S625R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	625	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATCGCTGCAGCCAGACATGCC	0.567000													8	45					2.17888e-05	2.35089e-05	0.006214	1	0
SEMA6D	80031	broad.mit.edu	37	15	48060883	48060883	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:48060883T>C	ENST00000316364.5	+	18	2310	c.1871T>C	c.(1870-1872)tTt>tCt	p.F624S	SEMA6D_ENST00000558014.1_Intron|SEMA6D_ENST00000354744.4_Intron|SEMA6D_ENST00000389428.3_Intron|SEMA6D_ENST00000558816.1_Intron|SEMA6D_ENST00000355997.3_Intron|SEMA6D_ENST00000537942.1_Intron|SEMA6D_ENST00000536845.2_Missense_Mutation_p.F624S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.F605S|SEMA6D_ENST00000358066.4_Intron|SEMA6D_ENST00000389432.2_Intron	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	624					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TCTCGGAAATTTGTAGTTCAA	0.438000													28	59					0	0	0.008361	0	0
MKNK1	8569	broad.mit.edu	37	1	47028476	47028476	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:47028476C>A	ENST00000371946.4	-	11	971	c.808G>T	c.(808-810)Gtc>Ttc	p.V270F	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000341183.5_Missense_Mutation_p.V229F|MKNK1_ENST00000371945.4_Missense_Mutation_p.V229F|MKNK1_ENST00000428112.2_Missense_Mutation_p.V229F|MKNK1_ENST00000371944.4_Missense_Mutation_p.V134F	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	270	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCCGTGAAGACCTCCACTACC	0.602000													7	17					0.00448238	0.00459444	0.004482	1	0
DOCK3	1795	broad.mit.edu	37	3	51418609	51418609	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:51418609C>T	ENST00000266037.9	+	53	5735	c.5712C>T	c.(5710-5712)tcC>tcT	p.S1904S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1904						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TTGGGCACTCCTCGGAGGCCC	0.607000													27	91					0	0	0.021523	0	0
MGAT4C	25834	broad.mit.edu	37	12	86373772	86373772	+	Silent	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:86373772T>A	ENST00000604798.1	-	8	1936	c.732A>T	c.(730-732)ctA>ctT	p.L244L	MGAT4C_ENST00000332156.1_Silent_p.L244L|MGAT4C_ENST00000393205.2_Silent_p.L273L|MGAT4C_ENST00000548651.1_Silent_p.L244L|MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000549405.2_Silent_p.L244L|MGAT4C_ENST00000552808.2_Silent_p.L244L			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	244					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						AAGTTCCTTCTAGGGATGCAA	0.353000													13	30					0	0	0.016723	0	0
NT5C1B	93034	broad.mit.edu	37	2	18764221	18764221	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:18764221C>G	ENST00000304081.4	-	6	1034	c.934G>C	c.(934-936)Gat>Cat	p.D312H	NT5C1B_ENST00000359846.2_Missense_Mutation_p.D372H|NT5C1B_ENST00000600945.1_Missense_Mutation_p.D372H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.D372H	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TCCTGTTCATCAGGATATAGA	0.438000													16	55					0	0	0.004990	0	0
FNBP4	23360	broad.mit.edu	37	11	47788812	47788812	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:47788812C>T	ENST00000263773.5	-	1	41	c.29G>A	c.(28-30)gGc>gAc	p.G10D	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	10										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GGGCCTACGGCCGGGTACCGC	0.751000													5	6					0	0	0.014758	0	0
KLK8	11202	broad.mit.edu	37	19	51499449	51499449	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:51499449C>A	ENST00000600767.1	-	7	1138	c.649G>T	c.(649-651)Gtg>Ttg	p.V217L	KLK8_ENST00000320838.5_Missense_Mutation_p.G31V|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Missense_Mutation_p.V262L|KLK8_ENST00000291726.7_Missense_Mutation_p.V217L|KLK8_ENST00000347619.4_Missense_Mutation_p.V76L|KLK8_ENST00000593490.1_Missense_Mutation_p.G31V|KLK8_ENST00000598195.1_5'UTR			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	217	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		CCATCACACACCAGGGGGCCT	0.572000													32	82					1.08312e-15	1.38158e-15	0.009535	1	0
UBE3A	7337	broad.mit.edu	37	15	25599717	25599717	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:25599717T>G	ENST00000232165.3	-	10	2894	c.2238A>C	c.(2236-2238)ttA>ttC	p.L746F	UBE3A_ENST00000397954.2_Missense_Mutation_p.L749F|UBE3A_ENST00000566215.1_Missense_Mutation_p.L726F|SNHG14_ENST00000554726.1_RNA|UBE3A_ENST00000438097.1_Missense_Mutation_p.L726F|UBE3A_ENST00000428984.2_Missense_Mutation_p.L726F	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	749					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTGGTCTGAATAAGTACTTTA	0.348000													4	120					0	0	0.009096	0	0
BCL2	596	broad.mit.edu	37	18	60795972	60795972	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:60795972G>A	ENST00000398117.1	-	2	2067	c.606C>T	c.(604-606)taC>taT	p.Y202Y	BCL2_ENST00000333681.4_Silent_p.Y202Y|BCL2_ENST00000590515.1_5'UTR	NM_000633.2	NP_000624.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	202					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	TGCTGGGGCCGTACAGTTCCA	0.542000			T	IGH@	"""NHL, CLL"""								12	21					0	0	0.010729	0	0
DLGAP2	9228	broad.mit.edu	37	8	1497705	1497705	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:1497705C>T	ENST00000421627.2	+	2	980	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	361					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGACGCCCGACGCCAAGTACC	0.647000													16	27					0	0	0.003163	0	0
DIP2C	22982	broad.mit.edu	37	10	387205	387205	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:387205G>C	ENST00000280886.6	-	29	3605	c.3518C>G	c.(3517-3519)tCt>tGt	p.S1173C		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1173						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CACTTCTCTAGAGGGGTAAAG	0.488000													4	72					0	0	0.009096	0	0
LPGAT1	9926	broad.mit.edu	37	1	211966499	211966499	+	Nonsense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:211966499G>C	ENST00000366997.4	-	3	498	c.272C>G	c.(271-273)tCa>tGa	p.S91*	LPGAT1_ENST00000366996.1_Nonsense_Mutation_p.S91*	NM_014873.2	NP_055688.1	Q92604	LGAT1_HUMAN	lysophosphatidylglycerol acyltransferase 1	91					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		TTCATCTTTTGAAACTGCTTT	0.373000													5	220					0	0	0.014758	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217347624	217347624	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:217347624C>T	ENST00000357276.4	+	18	3119	c.2789C>T	c.(2788-2790)tCa>tTa	p.S930L	AC098820.3_ENST00000453157.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.S930L	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	930					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)		GATGAAAGCTCATTGACAGCC	0.448000									Schimke Immuno-Osseous Dysplasia				6	157					0	0	0.001984	0	0
PDE1B	5153	broad.mit.edu	37	12	54963037	54963037	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:54963037C>T	ENST00000243052.3	+	4	733	c.297C>T	c.(295-297)gaC>gaT	p.D99D	PDE1B_ENST00000550620.1_Silent_p.D79D|PDE1B_ENST00000538346.1_Silent_p.D58D|PDE1B_ENST00000394277.3_Intron	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	99					activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AGGTGCGGGACTGGCTGGCCT	0.642000													15	60					0	0	0.003163	0	0
ZNF525	170958	broad.mit.edu	37	19	53884844	53884844	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:53884844C>T	ENST00000467003.1	+	4	1105	c.904C>T	c.(904-906)Cag>Tag	p.Q302*	ZNF525_ENST00000475179.1_Intron|ZNF525_ENST00000593918.1_Intron|ZNF525_ENST00000474037.1_Nonsense_Mutation_p.Q338*|ZNF525_ENST00000355326.3_Nonsense_Mutation_p.Q56*					zinc finger protein 525											endometrium(3)|kidney(3)|lung(3)	9						GACCTTTAGTCAGAAGTCATA	0.393000													4	58					0	0	0.009096	0	0
MIER3	166968	broad.mit.edu	37	5	56219601	56219601	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:56219601G>A	ENST00000381226.3	-	12	1142	c.1127C>T	c.(1126-1128)tCa>tTa	p.S376L	MIER3_ENST00000409421.1_Missense_Mutation_p.S308L|MIER3_ENST00000381199.3_Missense_Mutation_p.S371L|MIER3_ENST00000381213.3_Missense_Mutation_p.S370L|SETD9_ENST00000541720.1_Intron			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		AGTTAAGGCTGAAGCATTTAC	0.408000													21	95					0	0	0.012319	0	0
GCSAML	148823	broad.mit.edu	37	1	247719752	247719752	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:247719752G>T	ENST00000366488.4	+	2	177	c.73G>T	c.(73-75)Gat>Tat	p.D25Y	GCSAML_ENST00000463359.1_5'UTR|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000527084.1_5'UTR|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000536561.1_Intron	NM_145278.3	NP_660321.1			germinal center-associated, signaling and motility-like																		AGGAAACCCAGATGAGGAAAG	0.378000													7	21					8.12818e-05	8.54501e-05	0.001984	1	0
NIN	51199	broad.mit.edu	37	14	51223726	51223726	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:51223726T>A	ENST00000245441.5	-	18	4212	c.4022A>T	c.(4021-4023)cAg>cTg	p.Q1341L	NIN_ENST00000453196.1_Missense_Mutation_p.Q1341L|NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.Q1341L|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Missense_Mutation_p.Q1341L|NIN_ENST00000530997.2_Missense_Mutation_p.Q1341L	NM_020921.3	NP_065972.3	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1341					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					gtcacaccgctggaCCACGCT	0.453000			T	PDGFRB	MPD								19	29					0	0	0.007413	0	0
HAUS4	54930	broad.mit.edu	37	14	23421791	23421791	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:23421791C>T	ENST00000206474.7	-	3	409	c.157G>A	c.(157-159)Gag>Aag	p.E53K	HAUS4_ENST00000541587.1_Missense_Mutation_p.E53K|HAUS4_ENST00000555986.1_Missense_Mutation_p.E53K|HAUS4_ENST00000347758.2_Missense_Mutation_p.E53K|HAUS4_ENST00000554446.1_5'UTR|HAUS4_ENST00000555367.1_Missense_Mutation_p.E53K|RP11-298I3.1_ENST00000548819.1_RNA|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000490506.1_Intron|HAUS4_ENST00000397409.4_Missense_Mutation_p.E53K|RP11-298I3.5_ENST00000555074.1_Intron|HAUS4_ENST00000342454.8_Missense_Mutation_p.E53K			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	53					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						AAGCCACTCTCATCCACATGC	0.483000													10	84					0	0	0.010729	0	0
FAM151B	167555	broad.mit.edu	37	5	79817926	79817926	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:79817926C>G	ENST00000282226.4	+	5	795	c.640C>G	c.(640-642)Cag>Gag	p.Q214E	FAM151B_ENST00000511718.1_3'UTR	NM_205548.2	NP_991111.2	Q6UXP7	F151B_HUMAN	family with sequence similarity 151, member B	214										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	7		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;8.21e-47)|Epithelial(54;8.3e-42)|all cancers(79;1.97e-36)		GTCTTGTTCTCAGTTACTTTG	0.378000													3	58					0	0	0.004672	0	0
C1ORF220	400798	broad.mit.edu	37	1	178514863	178514863	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:178514863G>A	ENST00000367636.4	+	2	587	c.249G>A	c.(247-249)caG>caA	p.Q83Q	C1orf220_ENST00000521244.1_3'UTR|C1orf220_ENST00000319387.2_3'UTR																							AGCTTCTGCAGTTGGGAAGAC	0.532000													15	67					0	0	0.020292	0	0
AHCYL1	10768	broad.mit.edu	37	1	110562203	110562203	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:110562203G>A	ENST00000369799.5	+	15	1787	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	AHCYL1_ENST00000393614.4_Missense_Mutation_p.E427K|AHCYL1_ENST00000359172.3_Missense_Mutation_p.E427K	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	474					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		TAATGCACCCGAGGGGCGATA	0.408000													35	124					0	0	0.007835	0	0
NPRL3	8131	broad.mit.edu	37	16	139797	139797	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:139797C>G	ENST00000399953.3	-	11	1667	c.1265G>C	c.(1264-1266)cGt>cCt	p.R422P	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Missense_Mutation_p.R243P	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	422							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CTCTCGCGGACGGGGCTCCTC	0.667000													3	14					0	0	0.004672	0	0
CEP350	9857	broad.mit.edu	37	1	180003104	180003104	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:180003104C>G	ENST00000367607.3	+	16	4251	c.3833C>G	c.(3832-3834)tCt>tGt	p.S1278C		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1278	Ser-rich.					centrosome|nucleus|spindle		p.S1278F(1)		central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGAAAGATCTAAGTCGTCA	0.453000													5	62					0	0	0.014758	0	0
SGIP1	84251	broad.mit.edu	37	1	67154913	67154913	+	Silent	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:67154913A>T	ENST00000371037.4	+	16	1475	c.1398A>T	c.(1396-1398)ccA>ccT	p.P466P	SGIP1_ENST00000371035.3_Silent_p.P256P|SGIP1_ENST00000371036.3_Silent_p.P266P|SGIP1_ENST00000371039.1_Silent_p.P267P|SGIP1_ENST00000237247.6_Silent_p.P497P	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	466	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CCCGGCCTCCATCCCGGCCAA	0.537000													69	223					0	0	0.014410	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738629	8738629	+	Silent	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:8738629C>A	ENST00000311434.9	-	8	845	c.606G>T	c.(604-606)ggG>ggT	p.G202G	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	202					platelet activation	cytosol											GACAGGCCTCCCCCAGAGCCG	0.672000													6	18					3.59834e-05	3.81078e-05	0.001168	1	0
C17orf58	284018	broad.mit.edu	37	17	65988130	65988130	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:65988130G>T	ENST00000449250.2	-	3	382	c.193C>A	c.(193-195)Cca>Aca	p.P65T	C17orf58_ENST00000334461.7_3'UTR|C17orf58_ENST00000536693.1_3'UTR			Q2M2W7	CQ058_HUMAN	chromosome 17 open reading frame 58	65										lung(2)	2	all_cancers(12;4.57e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CCATCCCCTGGACGGAGGCGG	0.512000													32	78					5.60225e-13	6.90062e-13	0.009535	1	0
CDH2	1000	broad.mit.edu	37	18	25543371	25543371	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:25543371C>A	ENST00000269141.3	-	15	2887	c.2464G>T	c.(2464-2466)Gtc>Ttc	p.V822F	AC015933.2_ENST00000423367.1_RNA|CDH2_ENST00000399380.3_Missense_Mutation_p.V791F	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	822					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCAGATCGGACCGGATACTGG	0.522000													7	50					0.000157383	0.000163656	0.003080	1	0
OR6Q1	219952	broad.mit.edu	37	11	57798701	57798701	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:57798701G>T	ENST00000302622.3	+	1	300	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGTGGATGGTGGCAAGAATAT	0.478000													47	120					1.0096e-33	1.37979e-33	0.014410	1	0
DSG1	1828	broad.mit.edu	37	18	28916510	28916510	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:28916510C>T	ENST00000257192.4	+	9	1411	c.1199C>T	c.(1198-1200)tCa>tTa	p.S400L		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	400	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AATATGGGATCAAATGATAAA	0.388000													8	41					0	0	0.004482	0	0
IDE	3416	broad.mit.edu	37	10	94297241	94297241	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:94297241G>A	ENST00000265986.6	-	2	221	c.165C>T	c.(163-165)acC>acT	p.T55T		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	55					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGGAGACTTGGTAATGTGAT	0.383000													17	68					0	0	0.004990	0	0
SNRPC	6631	broad.mit.edu	37	6	34741263	34741263	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:34741263G>T	ENST00000374017.3	+	5	746	c.459G>T	c.(457-459)atG>atT	p.M153I	SNRPC_ENST00000244520.5_Missense_Mutation_p.M132I|SNRPC_ENST00000374018.1_Missense_Mutation_p.M91I|SNRPC_ENST00000474635.1_3'UTR			P09234	RU1C_HUMAN	small nuclear ribonucleoprotein polypeptide C	132					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						ATATGCCAATGATGCCTGGGC	0.557000													6	56					3.59834e-05	3.81078e-05	0.001168	1	0
ITK	3702	broad.mit.edu	37	5	156672899	156672899	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:156672899T>A	ENST00000422843.3	+	15	1675	c.1523T>A	c.(1522-1524)cTg>cAg	p.L508Q	ITK_ENST00000519749.1_3'UTR	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	508	Protein kinase.				cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTTCGTTCTGGATGATCAG	0.537000			T	SYK	peripheral T-cell lymphoma								33	62					0	0	0.009535	0	0
KIFC1	3833	broad.mit.edu	37	6	33373211	33373211	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:33373211G>C	ENST00000428849.2	+	7	1789	c.1339G>C	c.(1339-1341)Gag>Cag	p.E447Q		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	447	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						TGTGGCTCAGGAGCTGAGTGG	0.617000													5	49					0	0	0.014758	0	0
CACNA1S	779	broad.mit.edu	37	1	201047120	201047120	+	Silent	SNP	G	G	A	rs141808465	byFrequency	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:201047120G>A	ENST00000362061.3	-	11	1732	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	CACNA1S_ENST00000367338.3_Silent_p.F502F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	502					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TACACACCACGAAGCAGTCGA	0.592000													18	87					0	0	0.014323	0	0
C6orf47	57827	broad.mit.edu	37	6	31627555	31627555	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:31627555T>G	ENST00000375911.1	-	1	994	c.170A>C	c.(169-171)aAg>aCg	p.K57T	C6orf47-AS1_ENST00000422049.1_RNA	NM_021184.3	NP_067007.3	O95873	CF047_HUMAN	chromosome 6 open reading frame 47	57										NS(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9						GTCCTTAGTCTTGGGATGCCC	0.567000													9	46					0	0	0.008291	0	0
DDX23	9416	broad.mit.edu	37	12	49233875	49233875	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:49233875C>A	ENST00000308025.3	-	4	414	c.335G>T	c.(334-336)cGa>cTa	p.R112L	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	112	Arg-rich.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GTCTTTTCCTCGACCAGGAGA	0.438000													37	105					1.26612e-14	1.57989e-14	0.015359	1	0
GPR64	10149	broad.mit.edu	37	X	19022898	19022898	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chrX:19022898G>C	ENST00000379878.3	-	22	2132	c.1891C>G	c.(1891-1893)Ctt>Gtt	p.L631V	GPR64_ENST00000357991.3_Missense_Mutation_p.L644V|GPR64_ENST00000379873.2_Missense_Mutation_p.L647V|GPR64_ENST00000379876.1_Missense_Mutation_p.L623V|GPR64_ENST00000356606.4_Missense_Mutation_p.L633V|GPR64_ENST00000379869.3_Missense_Mutation_p.L647V|GPR64_ENST00000357544.3_Missense_Mutation_p.L617V|GPR64_ENST00000340581.3_Missense_Mutation_p.L528V|GPR64_ENST00000354791.3_Missense_Mutation_p.L631V|GPR64_ENST00000360279.4_Missense_Mutation_p.L625V	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	647					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAGGTTACAAGAGTCACTGAC	0.418000													7	112					0	0	0.003080	0	0
CDH1	999	broad.mit.edu	37	16	68862085	68862085	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:68862085C>T	ENST00000261769.5	+	14	2364	c.2173C>T	c.(2173-2175)Ctg>Ttg	p.L725L	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Silent_p.L664L	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	725					adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AGTTCTGATTCTGCTGCTCTT	0.517000			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer				9	92					0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152668295	152668295	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:152668295G>T	ENST00000367255.5	-	73	12578	c.11977C>A	c.(11977-11979)Caa>Aaa	p.Q3993K	SYNE1_ENST00000341594.5_Intron|SYNE1_ENST00000265368.4_Missense_Mutation_p.Q3993K|SYNE1_ENST00000423061.1_Missense_Mutation_p.Q3922K|SYNE1_ENST00000448038.1_Missense_Mutation_p.Q3922K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3993					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCTGCACATTGGCCAATCAAA	0.448000										HNSCC(10;0.0054)			12	29					3.07112e-06	3.37705e-06	0.010729	1	0
ZNF436	80818	broad.mit.edu	37	1	23693616	23693616	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:23693616C>T	ENST00000314011.4	-	3	215	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K	ZNF436_ENST00000374609.1_Missense_Mutation_p.E27K|ZNF436_ENST00000374608.3_Missense_Mutation_p.E27K	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGTCTCCATTCTTCCCGGGTG	0.443000													16	69					0	0	0.004990	0	0
KMT2D	8085	broad.mit.edu	37	12	49433571	49433571	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:49433571A>T	ENST00000301067.7	-	31	7981	c.7982T>A	c.(7981-7983)cTc>cAc	p.L2661H		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		GGTACCTGGGAGTTCAGCTGT	0.577000													7	34					0	0	0.001984	0	0
PBX1	5087	broad.mit.edu	37	1	164769122	164769122	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:164769122G>T	ENST00000420696.2	+	4	885	c.697G>T	c.(697-699)Gcg>Tcg	p.A233S	PBX1_ENST00000401534.1_Missense_Mutation_p.A233S|PBX1_ENST00000540246.1_Missense_Mutation_p.A128S|PBX1_ENST00000559240.1_Missense_Mutation_p.A233S|PBX1_ENST00000540236.1_Missense_Mutation_p.A233S|PBX1_ENST00000367897.1_Missense_Mutation_p.A233S|PBX1_ENST00000560641.1_Missense_Mutation_p.A128S	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	233					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATTTCTGGATGCGCGGTGAGT	0.612000			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""								12	35					5.16669e-11	6.15286e-11	0.010729	1	0
KRT1	3848	broad.mit.edu	37	12	53073746	53073746	+	Silent	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:53073746A>G	ENST00000252244.3	-	1	445	c.387T>C	c.(385-387)ttT>ttC	p.F129F		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	129	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						cacctccaccaaaaccaccac	0.572000													8	24					0	0	0.003080	0	0
ACOX3	8310	broad.mit.edu	37	4	8398816	8398816	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:8398816C>A	ENST00000356406.5	-	9	981	c.904G>T	c.(904-906)Ggg>Tgg	p.G302W	ACOX3_ENST00000503233.1_Missense_Mutation_p.G302W|ACOX3_ENST00000413009.2_Missense_Mutation_p.G302W	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	302					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GACAGGCTCCCCAGGGACGCT	0.647000													21	41					0.00152264	0.0015663	0.010504	1	0
PSMD3	5709	broad.mit.edu	37	17	38140573	38140573	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:38140573G>A	ENST00000264639.4	+	2	421	c.247G>A	c.(247-249)Gag>Aag	p.E83K	PSMD3_ENST00000541736.1_Intron	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	83					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					GAAACAGCTAGAGAAAGCGGT	0.527000													4	57					0	0	0.009096	0	0
HIST1H2BB	3018	broad.mit.edu	37	6	26043780	26043780	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:26043780C>T	ENST00000357905.2	-	1	105	c.106G>A	c.(106-108)Gag>Aag	p.E36K		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	36					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GAATAGCTCTCCTTGCGGCTG	0.507000													49	183					0	0	0.014410	0	0
MYO16	23026	broad.mit.edu	37	13	109365050	109365050	+	Missense_Mutation	SNP	G	G	T	rs111464054	byFrequency	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr13:109365050G>T	ENST00000356711.2	+	3	394	c.268G>T	c.(268-270)Gtc>Ttc	p.V90F	MYO16_ENST00000251041.5_Missense_Mutation_p.V90F|MYO16_ENST00000357550.2_Missense_Mutation_p.V90F	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	90					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCACACCCTCGTCTCCTCGGG	0.577000													25	73					2.49675e-24	3.287e-24	0.007291	1	0
LACE1	246269	broad.mit.edu	37	6	108843517	108843517	+	Silent	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:108843517C>G	ENST00000368977.4	+	13	1521	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	445							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		CAGAAGGACTCTCCATGTTTA	0.358000													3	51					0	0	0.004672	0	0
NCKAP5	344148	broad.mit.edu	37	2	133540014	133540014	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:133540014G>T	ENST00000409261.1	-	14	4743	c.4370C>A	c.(4369-4371)aCc>aAc	p.T1457N	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1457N	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1457							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCAGTCGCGGTTGCAGAGGC	0.512000													16	51					2.31682e-05	2.48107e-05	0.003163	1	0
TMEM100	55273	broad.mit.edu	37	17	53798254	53798254	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:53798254A>G	ENST00000575734.1	-	4	986	c.178T>C	c.(178-180)Ttt>Ctt	p.F60L	TMEM100_ENST00000424486.2_Missense_Mutation_p.F60L	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	60						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						ACCACAGCAAAGGGGATGATG	0.537000													30	104					0	0	0.007291	0	0
TECRL	253017	broad.mit.edu	37	4	65165722	65165722	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:65165722C>A	ENST00000381210.3	-	8	854	c.744G>T	c.(742-744)agG>agT	p.R248S	TECRL_ENST00000507440.1_Missense_Mutation_p.R248S|TECRL_ENST00000513125.1_5'UTR	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	248					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTGATTTGCCTGTTTCCAA	0.308000													37	76					9.62906e-15	1.20679e-14	0.006230	1	0
SLC6A4	6532	broad.mit.edu	37	17	28539761	28539761	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:28539761C>T	ENST00000401766.2	-	8	1713	c.1201G>A	c.(1201-1203)Gca>Aca	p.A401T	SLC6A4_ENST00000261707.3_Missense_Mutation_p.A401T			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	401					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GTCCTACCTGCGTCTTTGGCC	0.443000													4	70					0	0	0.014758	0	0
CCT2	10576	broad.mit.edu	37	12	69987387	69987387	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:69987387G>A	ENST00000543146.2	+	10	1317	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	CCT2_ENST00000299300.6_Missense_Mutation_p.V326I|CCT2_ENST00000544368.2_Missense_Mutation_p.V326I	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	326					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			CCTAGCTCTTGTCACAGGTAT	0.373000													8	32					0	0	0.004482	0	0
FZD10	11211	broad.mit.edu	37	12	130648151	130648151	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:130648151G>C	ENST00000539839.1	+	1	1148	c.566G>C	c.(565-567)cGa>cCa	p.R189P	FZD10_ENST00000229030.4_Missense_Mutation_p.E222Q	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGGAGCCGCGAGGACAAGCG	0.692000													18	60					0	0	0.006122	0	0
ADCY8	114	broad.mit.edu	37	8	131955663	131955663	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:131955663G>T	ENST00000286355.5	-	4	3379	c.1287C>A	c.(1285-1287)acC>acA	p.T429T	RP11-737F9.1_ENST00000523318.1_RNA|ADCY8_ENST00000377928.3_Silent_p.T429T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	429					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAGCAGACAAGGTCGTGGAGA	0.453000										HNSCC(32;0.087)			5	40					1.23904e-05	1.35211e-05	0.014758	1	0
OR52B4	143496	broad.mit.edu	37	11	4389047	4389047	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:4389047G>T	ENST00000408920.2	-	1	569	c.479C>A	c.(478-480)cCt>cAt	p.P160H		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATATGATAGGGAAAATTGT	0.368000													12	37					3.07112e-06	3.37705e-06	0.010729	1	0
PRKACB	5567	broad.mit.edu	37	1	84662323	84662323	+	Silent	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:84662323A>T	ENST00000370689.2	+	6	708	c.444A>T	c.(442-444)gcA>gcT	p.A148A	PRKACB_ENST00000394838.2_Silent_p.A155A|PRKACB_ENST00000370680.1_Silent_p.A154A|PRKACB_ENST00000370685.3_Silent_p.A195A|PRKACB_ENST00000370682.3_Silent_p.A152A|PRKACB_ENST00000470673.1_3'UTR|PRKACB_ENST00000370688.3_Silent_p.A148A|PRKACB_ENST00000394839.2_Silent_p.A118A	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	148	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GGTTCTATGCAGCTCAGATAG	0.358000													15	41					0	0	0.003163	0	0
TRPS1	7227	broad.mit.edu	37	8	116426349	116426349	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:116426349G>T	ENST00000395715.3	-	7	4364	c.3787C>A	c.(3787-3789)Cat>Aat	p.H1263N	TRPS1_ENST00000520276.1_Missense_Mutation_p.H1254N|TRPS1_ENST00000519076.1_Missense_Mutation_p.H1004N|TRPS1_ENST00000220888.5_Missense_Mutation_p.H1250N	NM_014112.2	NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	1250	Transcriptional repressor domain (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GTGCAAAGATGCTGGCATATG	0.433000									Langer-Giedion syndrome				57	98					2.78941e-39	3.83043e-39	0.014410	1	0
PCSK7	9159	broad.mit.edu	37	11	117094859	117094859	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:117094859C>G	ENST00000320934.3	-	8	1619	c.989G>C	c.(988-990)gGa>gCa	p.G330A	PCSK7_ENST00000540028.1_5'UTR	NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	330	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	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;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGTTGGCCTCCGTTGCCACT	0.537000			T	IGH@	MLCLS								23	64					0	0	0.014323	0	0
TENM4	26011	broad.mit.edu	37	11	78381203	78381203	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:78381203G>A	ENST00000278550.7	-	32	6649	c.6187C>T	c.(6187-6189)Ctg>Ttg	p.L2063L		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		CGGTCAATCAGGGGCCCAATC	0.547000													10	32					0	0	0.006214	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606523	82606523	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:82606523C>G	ENST00000518568.1	-	1	1886	c.685G>C	c.(685-687)Gat>Cat	p.D229H		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	229						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						AAATCTCCATCTAGAAGCAGA	0.458000													8	164					0	0	0.003080	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68264845	68264845	+	Missense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:68264845T>A	ENST00000347230.4	-	11	2272	c.2134A>T	c.(2134-2136)Agt>Tgt	p.S712C	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S712C	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	712					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCTCTGACTTTCTTGCTTT	0.542000													23	63					0	0	0.014323	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104066182	104066182	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:104066182C>T	ENST00000395862.3	+	7	703	c.544C>T	c.(544-546)Ctc>Ttc	p.L182F	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.L107F|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.L182F|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.L107F	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	182					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TTCAGAGTATCTCGTCACATT	0.318000													12	65					0	0	0.010729	0	0
ZNF234	10780	broad.mit.edu	37	19	44660836	44660836	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:44660836C>G	ENST00000426739.2	+	6	925	c.667C>G	c.(667-669)Cag>Gag	p.Q223E	ZNF234_ENST00000592437.1_Missense_Mutation_p.Q223E	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	223					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCAAACTCATCAGAGAGTCCA	0.418000													5	178					0	0	0.014758	0	0
ATG9A	79065	broad.mit.edu	37	2	220090255	220090255	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:220090255G>A	ENST00000409618.1	-	6	691	c.252C>T	c.(250-252)gtC>gtT	p.V84V	ATG9A_ENST00000409422.1_Silent_p.V23V|ATG9A_ENST00000396761.2_Silent_p.V84V|ATG9A_ENST00000361242.4_Silent_p.V84V			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	84					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACGCAGCTGACCAGGAAGG	0.537000													20	57					0	0	0.008871	0	0
SLC26A4	5172	broad.mit.edu	37	7	107342395	107342395	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:107342395G>C	ENST00000265715.3	+	17	2151	c.1927G>C	c.(1927-1929)Gag>Cag	p.E643Q	SLC26A4_ENST00000544569.1_Missense_Mutation_p.E230Q|SLC26A4_ENST00000543100.1_Missense_Mutation_p.E212Q|SLC26A4_ENST00000541474.1_Missense_Mutation_p.E204Q	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	643	STAS.				regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TTGGAACTCTGAGCTTCCAGT	0.428000									Pendred syndrome				6	56					0	0	0.001168	0	0
HK1	3098	broad.mit.edu	37	10	71136840	71136840	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:71136840C>T	ENST00000448642.2	+	13	1520	c.1131C>T	c.(1129-1131)atC>atT	p.I377I	HK1_ENST00000359426.6_Silent_p.I342I|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Silent_p.I346I|HK1_ENST00000360289.2_Silent_p.I330I|HK1_ENST00000298649.3_Silent_p.I341I			P19367	HXK1_HUMAN	hexokinase 1	342	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						TGTCAGCCATCGAAAAGTAGG	0.517000													15	69					0	0	0.003163	0	0
SLC9C2	284525	broad.mit.edu	37	1	173569349	173569349	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:173569349C>T	ENST00000367714.3	-	3	557	c.135G>A	c.(133-135)ttG>ttA	p.L45L	SLC9C2_ENST00000536496.1_Intron|RP3-436N22.3_ENST00000431459.1_RNA	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	45					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										AACACATCTTCAAAAGCCcta	0.373000													8	32					0	0	0.004482	0	0
GPR6	2830	broad.mit.edu	37	6	110301347	110301347	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:110301347C>T	ENST00000414000.2	+	3	1316	c.1077C>T	c.(1075-1077)ctC>ctT	p.L359L	GPR6_ENST00000275169.3_Silent_p.L344L			P46095	GPR6_HUMAN	G protein-coupled receptor 6	344						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GGCTCCTGCTCTGTGGCTGTT	0.597000													37	139					0	0	0.005524	0	0
UBXN7	26043	broad.mit.edu	37	3	196094967	196094967	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:196094967C>G	ENST00000296328.4	-	8	840	c.766G>C	c.(766-768)Gga>Cga	p.G256R	UBXN7_ENST00000535858.1_Missense_Mutation_p.G108R|UBXN7_ENST00000428095.1_Missense_Mutation_p.G94R	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	256							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCCAGAAATCCCGTCACTTGG	0.398000													15	69					0	0	0.020292	0	0
TAF1L	138474	broad.mit.edu	37	9	32633780	32633780	+	Missense_Mutation	SNP	G	G	A	rs143756087	byFrequency	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:32633780G>A	ENST00000242310.4	-	1	1887	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	600					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGGTGCCCCGAAGACCCTGT	0.488000													9	213					0	0	0.008291	0	0
SLC16A4	9122	broad.mit.edu	37	1	110921598	110921598	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:110921598T>C	ENST00000369779.4	-	6	1156	c.907A>G	c.(907-909)Ata>Gta	p.I303V	SLC16A4_ENST00000472422.2_Missense_Mutation_p.I255V|SLC16A4_ENST00000437429.2_Missense_Mutation_p.I193V|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000541986.1_Missense_Mutation_p.I241V|SLC16A4_ENST00000497687.1_5'UTR	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	303						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	CAAGTAAATATGTAGAAGAAA	0.398000													17	53					0	0	0.004007	0	0
VNN3	55350	broad.mit.edu	37	6	133045781	133045781	+	Silent	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:133045781A>G	ENST00000207771.3	-	6	1236	c.1164T>C	c.(1162-1164)gaT>gaC	p.D388D	VNN3_ENST00000509351.1_3'UTR|VNN3_ENST00000414302.2_3'UTR|VNN3_ENST00000427187.2_3'UTR|VNN3_ENST00000392393.3_3'UTR|VNN3_ENST00000519686.2_3'UTR|VNN3_ENST00000423615.2_3'UTR|VNN3_ENST00000417437.2_3'UTR|VNN3_ENST00000367927.5_3'UTR|VNN3_ENST00000275223.3_3'UTR|VNN3_ENST00000425515.2_3'UTR					vanin 3											cervix(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00242)|GBM - Glioblastoma multiforme(226;0.0168)		TGTGCAGTCCATCAAAAGCAC	0.398000													5	17					0	0	0.014758	0	0
ZNF521	25925	broad.mit.edu	37	18	22806582	22806582	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:22806582C>A	ENST00000361524.3	-	4	1448	c.1300G>T	c.(1300-1302)Gaa>Taa	p.E434*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.E214*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.E434*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	434					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGGGCCTGTTCTGGCTTATCT	0.413000			T	PAX5	ALL								17	49					4.7546e-09	5.5023e-09	0.004007	1	0
CD3EAP	10849	broad.mit.edu	37	19	45911398	45911398	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:45911398G>A	ENST00000309424.3	+	3	660	c.172G>A	c.(172-174)Ggg>Agg	p.G58R	ERCC1_ENST00000423698.2_3'UTR|CD3EAP_ENST00000589804.1_Missense_Mutation_p.G60R|ERCC1_ENST00000300853.3_3'UTR	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	58					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TAGCTTCAATGGGCGGCATGT	0.507000													38	99					0	0	0.021022	0	0
RABEP2	79874	broad.mit.edu	37	16	28917071	28917071	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:28917071C>A	ENST00000358201.4	-	11	2033	c.1445G>T	c.(1444-1446)tGc>tTc	p.C482F	RABEP2_ENST00000544477.1_Missense_Mutation_p.C411F|RABEP2_ENST00000357573.6_Missense_Mutation_p.C446F	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	482					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CCTCAGGCTGCACAGGGAGGC	0.657000													37	57					1.66425e-11	2.00689e-11	0.021022	1	0
C5	727	broad.mit.edu	37	9	123785720	123785720	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:123785720G>A	ENST00000223642.1	-	10	1107	c.1078C>T	c.(1078-1080)Cct>Tct	p.P360S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	360					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AGGAAAAGAGGAGTAGCAACC	0.438000													13	149					0	0	0.020292	0	0
PGBD1	84547	broad.mit.edu	37	6	28268747	28268747	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:28268747G>C	ENST00000405948.2	+	7	1536	c.1116G>C	c.(1114-1116)gaG>gaC	p.E372D	PGBD1_ENST00000259883.3_Missense_Mutation_p.E372D	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	372					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATGAGCCTGAGATCCAGCCTG	0.443000													10	77					0	0	0.006214	0	0
SPATA31A6	389730	broad.mit.edu	37	9	43630649	43630649	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:43630649G>T	ENST00000332857.6	-	1	81	c.53C>A	c.(52-54)gCc>gAc	p.A18D		NM_001145196.1	NP_001138668.1			SPATA31 subfamily A, member 6																		GGAGCTGGGGGCGTTTAGCGA	0.478000													45	125					9.39024e-22	1.225e-21	0.009718	1	0
LCN8	138307	broad.mit.edu	37	9	139652378	139652378	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:139652378T>G	ENST00000371688.3	-	1	300	c.5A>C	c.(4-6)gAg>gCg	p.E2A		NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	0					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		GTCCAGCTCCTCCATGGCTGC	0.687000													14	21					0	0	0.003163	0	0
BMPR1B	658	broad.mit.edu	37	4	96035971	96035971	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:96035971C>T	ENST00000515059.1	+	5	527	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W	BMPR1B_ENST00000440890.2_Missense_Mutation_p.R112W|BMPR1B_ENST00000394931.1_Missense_Mutation_p.R82W|BMPR1B_ENST00000264568.4_Missense_Mutation_p.R82W|BMPR1B_ENST00000502683.1_Missense_Mutation_p.R82W	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	82					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TTTTCAGTGTCGGGTAAGGTA	0.423000													34	125					0	0	0.010818	0	0
CEACAM5	1048	broad.mit.edu	37	19	42222239	42222239	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:42222239G>T	ENST00000221992.6	+	6	1544	c.1430G>T	c.(1429-1431)tGc>tTc	p.C477F	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.C476F|CEACAM5_ENST00000405816.1_Missense_Mutation_p.C477F	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	477	Ig-like 5.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTCTATACCTGCCAGGCCAAT	0.488000													16	67					1.52009e-12	1.86439e-12	0.003163	1	0
TAS2R16	50833	broad.mit.edu	37	7	122635339	122635339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:122635339C>T	ENST00000249284.2	-	1	415	c.350G>A	c.(349-351)tGg>tAg	p.W117*		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	117					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCACCTCAGCCAGAGAAAGAT	0.398000													7	34					0	0	0.001984	0	0
CWH43	80157	broad.mit.edu	37	4	48996650	48996650	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:48996650A>G	ENST00000226432.4	+	5	709	c.526A>G	c.(526-528)Aaa>Gaa	p.K176E	CWH43_ENST00000513409.1_Missense_Mutation_p.K149E	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	176					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TGACTGCAGTAAACCTGAAGA	0.428000													39	73					0	0	0.006999	0	0
IGKV1-6	28943	broad.mit.edu	37	2	89265828	89265828	+	RNA	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:89265828G>T	ENST00000464162.1	-	0	332																											AAATCTTCAGGCTGCAGGCTG	0.488000													77	178					1.76847e-28	2.38287e-28	0.014410	1	0
RABGAP1L	9910	broad.mit.edu	37	1	174244981	174244981	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:174244981G>A	ENST00000251507.4	+	9	1238	c.1064G>A	c.(1063-1065)gGa>gAa	p.G355E	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.G318E|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.G2E	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	355					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GAATCCATGGGAAAGAGCTAT	0.348000													7	99					0	0	0.001984	0	0
MYH8	4626	broad.mit.edu	37	17	10307870	10307870	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:10307870C>A	ENST00000403437.2	-	22	2559	c.2465G>T	c.(2464-2466)cGt>cTt	p.R822L	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	822					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATGAAGGCACGGACATTATA	0.443000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				20	59					7.41877e-09	8.55096e-09	0.012319	1	0
TRIM41	90933	broad.mit.edu	37	5	180660418	180660418	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:180660418C>T	ENST00000315073.5	+	4	1856	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	TRIM41_ENST00000351937.5_Silent_p.I382I	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	382						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGACATCAAGGAGACTT	0.517000													25	223					0	0	0.008361	0	0
UNC93A	54346	broad.mit.edu	37	6	167728877	167728877	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:167728877C>G	ENST00000230256.3	+	8	1486	c.1311C>G	c.(1309-1311)atC>atG	p.I437M	UNC93A_ENST00000366829.2_Missense_Mutation_p.I395M	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	437						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAACCCGATCAGACCCCACG	0.537000													46	218					0	0	0.013114	0	0
SLC37A3	84255	broad.mit.edu	37	7	140043315	140043315	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:140043315G>A	ENST00000326232.9	-	13	1426	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	SLC37A3_ENST00000340308.3_Intron|SLC37A3_ENST00000447932.2_Missense_Mutation_p.A392V	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	408					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ACCCAAGTCCGCAGAAATAGC	0.453000													24	52					0	0	0.014323	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174244980	174244980	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:174244980G>A	ENST00000251507.4	+	9	1237	c.1063G>A	c.(1063-1065)Gga>Aga	p.G355R	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.G318R|RABGAP1L_ENST00000367689.3_Missense_Mutation_p.G2R	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	355					regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGAATCCATGGGAAAGAGCTA	0.348000													7	100					0	0	0.001984	0	0
CACNA1C	775	broad.mit.edu	37	12	2705059	2705059	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:2705059C>A	ENST00000399655.1	+	20	2948	c.2683C>A	c.(2683-2685)Cgc>Agc	p.R895S	CACNA1C_ENST00000347598.4_Missense_Mutation_p.R895S|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R895S|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R920S|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R895S|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R895S|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R895S|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R895S	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	895					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCAGTGCCACCGCATTGTCAA	0.577000													27	69					3.28513e-13	4.06393e-13	0.021523	1	0
STRN3	29966	broad.mit.edu	37	14	31380333	31380333	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:31380333C>G	ENST00000355683.5	-	11	1597	c.1382G>C	c.(1381-1383)gGa>gCa	p.G461A	STRN3_ENST00000357479.5_Missense_Mutation_p.G545A	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	492					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		ACACTGTTCTCCATTAGAACT	0.373000													3	43					0	0	0.004672	0	0
KCNQ2	3785	broad.mit.edu	37	20	62044851	62044851	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:62044851G>A	ENST00000354587.3	-	13	1807	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	KCNQ2_ENST00000344462.3_Missense_Mutation_p.S532L|KCNQ2_ENST00000359689.1_Missense_Mutation_p.S572L|KCNQ2_ENST00000360480.3_Missense_Mutation_p.S544L|KCNQ2_ENST00000357249.2_Missense_Mutation_p.S554L|KCNQ2_ENST00000430658.1_Missense_Mutation_p.S541L|KCNQ2_ENST00000370226.1_Missense_Mutation_p.S542L|KCNQ2_ENST00000359125.2_Missense_Mutation_p.S572L|KCNQ2_ENST00000370222.3_Missense_Mutation_p.S544L|KCNQ2_ENST00000370224.1_Missense_Mutation_p.S544L			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	572					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	GTGGCCGGCTGAGTACTGCTC	0.627000													4	79					0	0	0.014758	0	0
SYT4	6860	broad.mit.edu	37	18	40854133	40854133	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:40854133C>T	ENST00000255224.3	-	2	629	c.261G>A	c.(259-261)gtG>gtA	p.V87V	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Silent_p.V69V	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	87						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						AATTCTTTGGCACAGCTGGCT	0.388000													16	48					0	0	0.003163	0	0
GP6	51206	broad.mit.edu	37	19	55526339	55526339	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:55526339C>A	ENST00000310373.3	-	8	1001	c.974G>T	c.(973-975)gGg>gTg	p.G325V	CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000417454.1_Missense_Mutation_p.G324C|GP6_ENST00000333884.2_Missense_Mutation_p.G306C|CTC-550B14.7_ENST00000586845.1_RNA	NM_001083899.1	NP_001077368.1	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		CCATCCTGACCCCCGTTTGAT	0.667000													10	21					0.000673444	0.000695246	0.008291	1	0
CACNA1A	773	broad.mit.edu	37	19	13423508	13423508	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:13423508G>A	ENST00000360228.5	-	12	1642	c.1643C>T	c.(1642-1644)tCt>tTt	p.S548F	CACNA1A_ENST00000573710.2_Missense_Mutation_p.S549F	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	549					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTTGAAGGAAGAGTGGAAGTA	0.428000													4	57					0	0	0.009096	0	0
CDC42BPB	9578	broad.mit.edu	37	14	103442080	103442080	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:103442080C>T	ENST00000361246.2	-	11	1736	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	483					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTCTTTATCTCGGTTTGAATT	0.473000													5	169					0	0	0.014758	0	0
SPTA1	6708	broad.mit.edu	37	1	158615379	158615379	+	Missense_Mutation	SNP	A	A	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:158615379A>C	ENST00000368148.3	-	28	4082	c.3902T>G	c.(3901-3903)cTg>cGg	p.L1301R	SPTA1_ENST00000368147.3_Missense_Mutation_p.L1301R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1301					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGTTCTGCAGATCCCTAGA	0.428000													26	125					0	0	0.005443	0	0
CAND1	55832	broad.mit.edu	37	12	67703981	67703981	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:67703981G>C	ENST00000545606.1	+	13	3682	c.3245G>C	c.(3244-3246)aGa>aCa	p.R1082T		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1082					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CTGGATATTAGAAAGGCAGCA	0.348000													4	100					0	0	0.014758	0	0
MUC16	94025	broad.mit.edu	37	19	9020110	9020110	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:9020110T>C	ENST00000397910.4	-	21	37588	c.37385A>G	c.(37384-37386)cAt>cGt	p.H12462R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12464	SEA 3.				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						GTCAAGATGATGGATGCAGAT	0.537000													54	151					0	0	0.014410	0	0
WWC1	23286	broad.mit.edu	37	5	167855100	167855100	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:167855100G>A	ENST00000265293.4	+	12	2375	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	WWC1_ENST00000521089.1_Missense_Mutation_p.E625K	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	625					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGTATCGGACGAGTCAGTGGC	0.577000													8	22					0	0	0.006214	0	0
MEPE	56955	broad.mit.edu	37	4	88766956	88766956	+	Silent	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:88766956T>C	ENST00000497649.2	+	6	1242	c.864T>C	c.(862-864)aaT>aaC	p.N288N	MEPE_ENST00000361056.3_Silent_p.N312N|MEPE_ENST00000424957.3_Silent_p.N312N|MEPE_ENST00000395102.4_Silent_p.N343N|MEPE_ENST00000560249.1_Silent_p.N199N|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000540395.1_Silent_p.N199N			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	312					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAGAAGAAAATGGTGGAAATA	0.443000													27	53					0	0	0.006320	0	0
SLC4A11	83959	broad.mit.edu	37	20	3209242	3209242	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:3209242G>A	ENST00000380059.3	-	18	2534	c.2433C>T	c.(2431-2433)ctC>ctT	p.L811L	SLC4A11_ENST00000380056.3_Silent_p.L784L|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Silent_p.L768L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	784	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						AGAGGCCATAGAGCACGGGCT	0.667000													4	88					0	0	0.009096	0	0
DRD3	1814	broad.mit.edu	37	3	113850152	113850152	+	Silent	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:113850152T>A	ENST00000383673.2	-	6	1249	c.819A>T	c.(817-819)ggA>ggT	p.G273G	DRD3_ENST00000295881.7_Silent_p.G273G|DRD3_ENST00000467632.1_Silent_p.G273G|DRD3_ENST00000460779.1_Silent_p.G273G	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	273					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	TCAACTCTCCTCCTCTTTCTT	0.527000													39	136					0	0	0.006230	0	0
IL6	3569	broad.mit.edu	37	7	22766891	22766891	+	Missense_Mutation	SNP	T	T	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:22766891T>G	ENST00000404625.1	+	2	469	c.10T>G	c.(10-12)Ttc>Gtc	p.F4V	AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.F4V|IL6_ENST00000401651.1_5'UTR|IL6_ENST00000406575.1_Missense_Mutation_p.F4V|IL6_ENST00000420258.2_Missense_Mutation_p.F4V|IL6_ENST00000407492.1_5'UTR|IL6_ENST00000401630.3_Missense_Mutation_p.F4V			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	4					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TATGAACTCCTTCTCCACAAG	0.597000											OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	43					0	0	0.007413	0	0
TSHZ3	57616	broad.mit.edu	37	19	31770648	31770648	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:31770648G>A	ENST00000240587.4	-	2	378	c.51C>T	c.(49-51)tcC>tcT	p.S17S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	17					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S17S(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTAACTCTTCGGAAACATAGG	0.502000													17	45					0	0	0.006122	0	0
DHX57	90957	broad.mit.edu	37	2	39029995	39029995	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:39029995G>A	ENST00000295373.6	-	23	4005	c.3879C>T	c.(3877-3879)ttC>ttT	p.F1293F		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	1293							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				AGTCTCGGATGAATACTCGAC	0.483000													5	151					0	0	0.014758	0	0
OR5F1	338674	broad.mit.edu	37	11	55761773	55761773	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:55761773G>T	ENST00000278409.1	-	1	328	c.329C>A	c.(328-330)aCc>aAc	p.T110N		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GATGCATTCGGTTGTCGCCAG	0.468000													39	67					2.37825e-27	3.18952e-27	0.010771	1	0
MIA2	117153	broad.mit.edu	37	14	39722410	39722410	+	Nonsense_Mutation	SNP	T	T	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:39722410T>A	ENST00000280082.3	+	6	2121	c.1922T>A	c.(1921-1923)tTa>tAa	p.L641*	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		GCAATAATTTTACCTATTTTG	0.289000													24	49					0	0	0.016522	0	0
FBN2	2201	broad.mit.edu	37	5	127595242	127595242	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:127595242C>T	ENST00000508053.1	-	71	9618	c.8644G>A	c.(8644-8646)Gag>Aag	p.E2882K	FBN2_ENST00000262464.4_Missense_Mutation_p.E2882K			P35556	FBN2_HUMAN	fibrillin 2	2882					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTCTTAAGCTCCTTCTTCTTG	0.502000													5	125					0	0	0.001168	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156680962	156680962	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:156680962G>T	ENST00000264424.8	+	2	109	c.27G>T	c.(25-27)ctG>ctT	p.L9L	GUCY1B3_ENST00000513437.1_5'UTR|GUCY1B3_ENST00000502959.1_Silent_p.L9L|GUCY1B3_ENST00000505764.1_5'UTR|GUCY1B3_ENST00000503520.1_Silent_p.L9L|GUCY1B3_ENST00000505154.1_Intron|GUCY1B3_ENST00000507146.1_5'UTR	NM_000857.2	NP_000848.1	Q02153	GCYB1_HUMAN	guanylate cyclase 1, soluble, beta 3	9					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		ATCACGCCCTGGAGTTGCTGG	0.637000													10	35					1.58986e-06	1.77545e-06	0.008291	1	0
INSC	387755	broad.mit.edu	37	11	15197396	15197396	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:15197396G>A	ENST00000379554.3	+	3	353	c.307G>A	c.(307-309)Gag>Aag	p.E103K	INSC_ENST00000379556.3_Missense_Mutation_p.E56K|INSC_ENST00000528567.1_Missense_Mutation_p.E56K|INSC_ENST00000424273.1_Missense_Mutation_p.E56K|INSC_ENST00000530161.1_Missense_Mutation_p.E56K|INSC_ENST00000525218.1_Missense_Mutation_p.E56K	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	103					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CAGCCTGGAAGAGGATGCACA	0.612000													4	51					0	0	0.014758	0	0
EFTUD1	79631	broad.mit.edu	37	15	82532884	82532884	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:82532884G>C	ENST00000268206.7	-	6	559	c.391C>G	c.(391-393)Ctg>Gtg	p.L131V	EFTUD1_ENST00000359445.3_Missense_Mutation_p.L80V	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	131					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCTTGTCGCAGAACTGCCTGT	0.368000													3	25					0	0	0.004672	0	0
LOC101927079	101927079	broad.mit.edu	37	15	22332570	22332570	+	RNA	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr15:22332570T>C	ENST00000558896.1	+	0	377																											CCCATGCTCATCTGCTCCAAT	0.398000													5	173					0	0	0.014758	0	0
APBA1	320	broad.mit.edu	37	9	72130977	72130977	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:72130977C>A	ENST00000265381.4	-	2	1372	c.1150G>T	c.(1150-1152)Gac>Tac	p.D384Y		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	384	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						GGGCTAATGTCCTGGCGCATG	0.617000													32	100					7.11191e-15	8.95227e-15	0.013726	1	0
ZNF236	7776	broad.mit.edu	37	18	74639027	74639027	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr18:74639027G>T	ENST00000253159.8	+	23	4254	c.4056G>T	c.(4054-4056)ggG>ggT	p.G1352G	ZNF236_ENST00000320610.9_Silent_p.G1354G	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1352					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGACAGATGGGAGCCTGGCTA	0.438000													24	63					9.95505e-16	1.27549e-15	0.014323	1	0
NKTR	4820	broad.mit.edu	37	3	42679594	42679594	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:42679594G>A	ENST00000232978.8	+	13	2586	c.2398G>A	c.(2398-2400)Gag>Aag	p.E800K	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	800	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		AAAGTATAGCGAGAGCAGATC	0.428000													4	84					0	0	0.009096	0	0
POLR3B	55703	broad.mit.edu	37	12	106772115	106772115	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:106772115C>G	ENST00000228347.4	+	8	789	c.567C>G	c.(565-567)atC>atG	p.I189M	POLR3B_ENST00000539066.1_Missense_Mutation_p.I131M	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	189					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGAACAGGATCATCGTGGAGG	0.418000													14	114					0	0	0.016723	0	0
LRRC7	57554	broad.mit.edu	37	1	70488908	70488908	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:70488908G>T	ENST00000310961.5	+	18	1964	c.1546G>T	c.(1546-1548)Gat>Tat	p.D516Y	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.D511Y|LRRC7_ENST00000415775.2_Intron			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	511						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GGCCAGGTGTGATCAGCAGAT	0.577000													24	49					1.85244e-09	2.15243e-09	0.018920	1	0
AOAH	313	broad.mit.edu	37	7	36713594	36713594	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:36713594T>C	ENST00000431169.1	-	3	544	c.244A>G	c.(244-246)Acc>Gcc	p.T82A	AOAH_ENST00000258749.5_Missense_Mutation_p.T82A|AOAH_ENST00000535891.1_Missense_Mutation_p.T50A	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	82	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAATAGCAGGTGGTTTTCAAG	0.333000													8	18					0	0	0.003080	0	0
PRDM7	11105	broad.mit.edu	37	16	90141396	90141396	+	Silent	SNP	G	G	T	rs147971971	by1000genomes	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:90141396G>T	ENST00000449207.2	-	3	248	c.229C>A	c.(229-231)Cga>Aga	p.R77R	PRDM7_ENST00000407825.1_5'UTR	NM_001098173.1	NP_001091643.1	Q9NQW5	PRDM7_HUMAN	PR domain containing 7	77	KRAB-related.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GCCTGCCTTCGGTGACACATG	0.488000													18	32					9.7654e-05	0.000102287	0.007413	1	0
PLEC	5339	broad.mit.edu	37	8	144992837	144992837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:144992837C>A	ENST00000322810.4	-	32	11732	c.11563G>T	c.(11563-11565)Gag>Tag	p.E3855*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.E3686*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E3722*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E3741*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E3745*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E3718*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.E3696*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E3704*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E3718*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3855	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.E3745K(1)|p.E3718K(1)|p.E3855K(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGCCACCTCGGCACTCAGC	0.652000													19	61					4.96729e-08	5.61265e-08	0.008871	1	0
AKAP8L	26993	broad.mit.edu	37	19	15510160	15510160	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:15510160C>G	ENST00000397410.4	-	9	1174	c.1110G>C	c.(1108-1110)aaG>aaC	p.K370N	AC006128.2_ENST00000599183.1_RNA|AKAP8L_ENST00000595465.1_Missense_Mutation_p.K309N	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	370						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGTCCTGACTCTTCTTGCCTG	0.602000													5	80					0	0	0.014758	0	0
ZNF423	23090	broad.mit.edu	37	16	49672436	49672436	+	Silent	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:49672436G>C	ENST00000561648.1	-	4	680	c.627C>G	c.(625-627)ctC>ctG	p.L209L	ZNF423_ENST00000567169.1_Silent_p.L92L|ZNF423_ENST00000262383.2_Silent_p.L209L|ZNF423_ENST00000563137.2_Silent_p.L149L|ZNF423_ENST00000562520.1_Silent_p.L149L|ZNF423_ENST00000535559.1_Silent_p.L92L|ZNF423_ENST00000562871.1_Silent_p.L149L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	209					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GGTGGATCTTGAGGTGGTCGC	0.607000													8	33					0	0	0.004482	0	0
PRKCE	5581	broad.mit.edu	37	2	46237565	46237565	+	Missense_Mutation	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:46237565A>T	ENST00000306156.3	+	10	1673	c.1346A>T	c.(1345-1347)gAc>gTc	p.D449V	PRKCE_ENST00000394874.1_Missense_Mutation_p.D172V	NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	449	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAGGATGATGACGTGGACTGC	0.468000													18	62					0	0	0.007413	0	0
DNAH7	56171	broad.mit.edu	37	2	196729356	196729356	+	Silent	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:196729356C>A	ENST00000312428.6	-	41	7123	c.7023G>T	c.(7021-7023)ggG>ggT	p.G2341G		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2341	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCCTCCAACCCCTACTAGGA	0.473000													20	49					2.94398e-08	3.36623e-08	0.007413	1	0
ZZEF1	23140	broad.mit.edu	37	17	3935493	3935493	+	Silent	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:3935493C>G	ENST00000381638.2	-	42	6943	c.6819G>C	c.(6817-6819)gtG>gtC	p.V2273V		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2273							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCAAGATGATCACATTATGGG	0.418000													4	89					0	0	0.009096	0	0
FAT2	2196	broad.mit.edu	37	5	150885619	150885619	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:150885619G>T	ENST00000261800.5	-	23	12569	c.12557C>A	c.(12556-12558)tCc>tAc	p.S4186Y		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4186					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCGTTCCTGGAGTAAGTAGG	0.607000													44	123					6.4771e-29	8.81008e-29	0.010771	1	0
SEMA4D	10507	broad.mit.edu	37	9	91994133	91994133	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:91994133G>A	ENST00000450295.1	-	16	2851	c.2075C>T	c.(2074-2076)tCc>tTc	p.S692F	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S692F|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S692F|SEMA4D_ENST00000422704.2_Missense_Mutation_p.S692F|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	692					anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding	p.S692C(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						GATGGCCCCGGAGGAGGTGGC	0.602000													24	86					0	0	0.016522	0	0
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	RNA	SNP	G	G	A	rs138111133	by1000genomes	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1																						ACCAAGCCCAGTGGACAGATG	0.443000													5	42					0	0	0.014758	0	0
CHRNB2	1141	broad.mit.edu	37	1	154543767	154543767	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:154543767G>C	ENST00000368476.3	+	5	732	c.468G>C	c.(466-468)aaG>aaC	p.K156N		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	156					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.K156N(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GCGCATGCAAGATTGAAGTAA	0.527000													13	132					0	0	0.016723	0	0
MIR1185-2	100302209	broad.mit.edu	37	14	101510583	101510583	+	RNA	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:101510583G>T	ENST00000408687.1	+	0	49					NR_031571.1																						TTGATTAATGGCGAATATACA	0.507000													9	34					1.76689e-08	2.02839e-08	0.006214	1	0
MYH7B	57644	broad.mit.edu	37	20	33584527	33584527	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:33584527C>G	ENST00000262873.7	+	28	3450	c.3358C>G	c.(3358-3360)Caa>Gaa	p.Q1120E		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1078						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGATGCTGCTCAAGACAAGCA	0.622000													3	42					0	0	0.009096	0	0
BCO2	83875	broad.mit.edu	37	11	112085561	112085561	+	Missense_Mutation	SNP	A	A	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:112085561A>G	ENST00000357685.5	+	10	1544	c.1409A>G	c.(1408-1410)tAt>tGt	p.Y470C	BCO2_ENST00000438022.1_Missense_Mutation_p.Y436C|BCO2_ENST00000526088.1_Missense_Mutation_p.Y436C|BCO2_ENST00000361053.4_Missense_Mutation_p.Y397C|BCO2_ENST00000531169.1_Missense_Mutation_p.Y436C|BCO2_ENST00000532593.1_Missense_Mutation_p.Y365C|BCO2_ENST00000393032.2_Missense_Mutation_p.Y436C			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	470					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CAGATCTACTATGATCGATTC	0.393000													30	64					0	0	0.008361	0	0
LPHN3	23284	broad.mit.edu	37	4	62598706	62598706	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:62598706G>T	ENST00000512091.1	+	7	1376	c.629G>T	c.(628-630)gGa>gTa	p.G210V	LPHN3_ENST00000514157.1_Missense_Mutation_p.G210V|LPHN3_ENST00000511324.1_Missense_Mutation_p.G278V|LPHN3_ENST00000506700.1_Missense_Mutation_p.G210V|LPHN3_ENST00000508946.1_Missense_Mutation_p.G210V|LPHN3_ENST00000504896.1_Missense_Mutation_p.G210V|LPHN3_ENST00000545650.1_Missense_Mutation_p.G210V|LPHN3_ENST00000506746.1_Missense_Mutation_p.G278V|LPHN3_ENST00000506720.1_Missense_Mutation_p.G278V|LPHN3_ENST00000507164.1_Missense_Mutation_p.G278V|LPHN3_ENST00000509896.1_Missense_Mutation_p.G278V|LPHN3_ENST00000514996.1_Missense_Mutation_p.G210V|LPHN3_ENST00000507625.1_Missense_Mutation_p.G278V|LPHN3_ENST00000508693.1_Missense_Mutation_p.G278V|LPHN3_ENST00000514591.1_Missense_Mutation_p.G210V			Q9HAR2	LPHN3_HUMAN	latrophilin 3	210	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GATGGCACAGGATTTGTAGTG	0.448000													9	45					2.52707e-12	3.08625e-12	0.006214	1	0
GPR98	84059	broad.mit.edu	37	5	90015943	90015943	+	Nonsense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:90015943G>T	ENST00000405460.2	+	44	9622	c.9526G>T	c.(9526-9528)Gga>Tga	p.G3176*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3176					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)		TAATCCAACTGGAGGTGCTAG	0.408000													6	105					3.59834e-05	3.81078e-05	0.001168	1	0
TENM2	57451	broad.mit.edu	37	5	167673932	167673932	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:167673932C>T	ENST00000519204.1	+	26	5743	c.5625C>T	c.(5623-5625)gtC>gtT	p.V1875V	TENM2_ENST00000520394.1_Silent_p.V1757V|TENM2_ENST00000545108.1_Silent_p.V1995V|TENM2_ENST00000518659.1_Silent_p.V1996V|TENM2_ENST00000403607.2_Silent_p.V1820V					teneurin transmembrane protein 2																		ATGCTTCGGTCATCTTTGACT	0.537000													6	143					0	0	0.001168	0	0
PDZD7	79955	broad.mit.edu	37	10	102778631	102778631	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr10:102778631G>A	ENST00000370215.3	-	8	1497	c.1272C>T	c.(1270-1272)ctC>ctT	p.L424L		NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	424						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGGGTCGGCTGAGGGCCAGCA	0.692000											OREG0020453	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	15					0	0	0.004672	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153575479	153575479	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:153575479C>T	ENST00000326446.5	+	1	1052	c.341C>T	c.(340-342)tCg>tTg	p.S114L		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	114						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						ATTCTCTGCTCGCTGCTCTTC	0.587000													22	56					0	0	0.014323	0	0
ATAD3B	83858	broad.mit.edu	37	1	1412652	1412652	+	Splice_Site	SNP	A	A	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:1412652A>T	ENST00000308647.7	+	2	321		c.e2-1		ATAD3B_ENST00000378741.3_Splice_Site	NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B								ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	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;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|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;0.145)		ATGCGCCCGCAGGTTACGCCA	0.562000													10	9					0	0	0.010729	0	0
GPR75	10936	broad.mit.edu	37	2	54080406	54080406	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:54080406G>A	ENST00000394705.2	-	2	1758	c.1488C>T	c.(1486-1488)agC>agT	p.S496S	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	496						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTTACATGGGCTGCTCTCCT	0.458000													52	158					0	0	0.014410	0	0
MYH7	4625	broad.mit.edu	37	14	23894032	23894032	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:23894032C>G	ENST00000355349.3	-	22	2787	c.2625G>C	c.(2623-2625)gaG>gaC	p.E875D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	875					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACACCATCTTCTCCTCCAGCT	0.587000													12	85					0	0	0.013537	0	0
PEX26	55670	broad.mit.edu	37	22	18566424	18566424	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr22:18566424C>T	ENST00000329627.6	+	4	799	c.593C>T	c.(592-594)gCc>gTc	p.A198V	PEX26_ENST00000428061.2_Missense_Mutation_p.A198V|PEX26_ENST00000399744.3_Missense_Mutation_p.A198V	NM_017929.5	NP_060399.1	Q7Z412	PEX26_HUMAN	peroxisomal biogenesis factor 26	198					protein import into peroxisome matrix|protein import into peroxisome membrane	integral to peroxisomal membrane	protein C-terminus binding|protein complex binding			breast(1)|kidney(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GTACTTCAGGCCATTCACACA	0.597000													11	49					0	0	0.008291	0	0
CRIM1	51232	broad.mit.edu	37	2	36691736	36691736	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:36691736G>A	ENST00000280527.2	+	5	1296	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	310					nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TCCACTCCCCGCATAGTCTCT	0.483000													32	128					0	0	0.009535	0	0
ABCB8	11194	broad.mit.edu	37	7	150730745	150730745	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:150730745G>T	ENST00000358849.4	+	2	242	c.149G>T	c.(148-150)cGg>cTg	p.R50L	ABCB8_ENST00000477719.1_Missense_Mutation_p.R50L|ABCB8_ENST00000297504.6_Missense_Mutation_p.R67L|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000498578.1_Missense_Mutation_p.R50L|ABCB8_ENST00000477092.1_Missense_Mutation_p.R50L|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000356058.4_Missense_Mutation_p.R87L	NM_007188.3	NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	67						ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCACCTGCGGTCCCAGCTC	0.677000													20	60					1.01871e-10	1.19824e-10	0.008871	1	0
TBC1D10B	26000	broad.mit.edu	37	16	30376327	30376327	+	Splice_Site	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr16:30376327C>T	ENST00000409939.3	-	4	1245	c.1164_splice	c.e4-1	p.E389_splice		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	389	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CGTTCCAGCTCCTGCAGTGGG	0.607000													3	26					0	0	0.009096	0	0
MYH4	4622	broad.mit.edu	37	17	10355805	10355805	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:10355805G>T	ENST00000255381.2	-	26	3386	c.3276C>A	c.(3274-3276)agC>agA	p.S1092R	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1092					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTTGCAGATTGCTCATTTCAA	0.338000													12	30					1.08611e-07	1.2224e-07	0.010729	1	0
ACTN3	89	broad.mit.edu	37	11	66322659	66322659	+	RNA	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:66322659G>A	ENST00000502692.1	+	0	861				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGACCTCATCGACTACGCCAA	0.622000													21	44					0	0	0.012319	0	0
GIN1	54826	broad.mit.edu	37	5	102432327	102432327	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr5:102432327C>T	ENST00000399004.2	-	7	1306	c.1212G>A	c.(1210-1212)ctG>ctA	p.L404L	GIN1_ENST00000508629.1_Intron	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	404					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		TGTTGTCTCTCAGGACAGCAC	0.413000													5	175					0	0	0.014758	0	0
NELL1	4745	broad.mit.edu	37	11	20949951	20949951	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:20949951C>A	ENST00000298925.5	+	10	1160	c.1007C>A	c.(1006-1008)tCc>tAc	p.S336Y	NELL1_ENST00000532434.1_Missense_Mutation_p.S308Y|NELL1_ENST00000325319.5_Missense_Mutation_p.S251Y|NELL1_ENST00000357134.5_Missense_Mutation_p.S308Y			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	308	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						CGAAGGATGTCCTGTCCCCCT	0.522000													18	64					6.94344e-10	8.10068e-10	0.006122	1	0
INPP4B	8821	broad.mit.edu	37	4	143007365	143007365	+	Nonsense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr4:143007365C>A	ENST00000513000.1	-	25	2852	c.2419G>T	c.(2419-2421)Gaa>Taa	p.E807*	INPP4B_ENST00000509777.1_Nonsense_Mutation_p.E807*|INPP4B_ENST00000508116.1_Nonsense_Mutation_p.E807*|INPP4B_ENST00000262992.4_Nonsense_Mutation_p.E807*|INPP4B_ENST00000308502.4_Nonsense_Mutation_p.E807*	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	807					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AGGAGATTTTCTAGCAATGCT	0.328000													9	38					2.17888e-05	2.35089e-05	0.006214	1	0
VSX1	30813	broad.mit.edu	37	20	25057043	25057043	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:25057043C>G	ENST00000376709.4	-	5	1215	c.952G>C	c.(952-954)Gag>Cag	p.E318Q	VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000429762.3_Intron|VSX1_ENST00000444511.2_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	318					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						AAGCCATTCTCAGGGCTCACT	0.542000													9	90					0	0	0.004482	0	0
OR52L1	338751	broad.mit.edu	37	11	6008152	6008152	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:6008152C>T	ENST00000332249.4	-	1	63	c.9G>A	c.(7-9)ttG>ttA	p.L3L		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAAAGAAACCAAAGTCATGA	0.433000													10	44					0	0	0.010729	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516195	118516195	+	Silent	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:118516195G>T	ENST00000361417.2	+	17	3654	c.3243G>T	c.(3241-3243)tcG>tcT	p.S1081S	PHLDB1_ENST00000527898.1_Silent_p.S132S|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Silent_p.S1034S|PHLDB1_ENST00000524713.1_Silent_p.S224S	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1081										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CGGGCCCCTCGGGCTTCCCCC	0.672000													23	98					2.89027e-11	3.45628e-11	0.014323	1	0
ATRX	546	broad.mit.edu	37	X	76778855	76778855	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chrX:76778855G>C	ENST00000373344.5	-	31	6938	c.6724C>G	c.(6724-6726)Cag>Gag	p.Q2242E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.Q2204E	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2242					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTATGTATCTGAAGGAGCTCT	0.378000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						3	67					0	0	0.004672	0	0
ZNF232	7775	broad.mit.edu	37	17	5009283	5009283	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:5009283C>G	ENST00000250076.3	-	5	1825	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	ZNF232_ENST00000416429.2_3'UTR|ZNF232_ENST00000575898.1_Missense_Mutation_p.E382Q	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	364					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCCCACACTCATTACACTCA	0.438000													24	54					0	0	0.016522	0	0
SBF2	81846	broad.mit.edu	37	11	9850975	9850975	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr11:9850975C>A	ENST00000256190.8	-	28	3858	c.3721G>T	c.(3721-3723)Gct>Tct	p.A1241S		NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1241	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACAGAAACAGCATTCAGTAAG	0.373000													25	85					9.57634e-11	1.13103e-10	0.018920	1	0
POM121L12	285877	broad.mit.edu	37	7	53104099	53104099	+	Silent	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:53104099C>T	ENST00000408890.4	+	1	751	c.735C>T	c.(733-735)ctC>ctT	p.L245L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	245										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGGAGCCTCAGTTTTTGTG	0.647000													17	67					0	0	0.006122	0	0
CD47	961	broad.mit.edu	37	3	107798948	107798948	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:107798948G>A	ENST00000355354.7	-	2	406	c.290C>T	c.(289-291)tCt>tTt	p.S97F	CD47_ENST00000361309.5_Missense_Mutation_p.S97F	NM_198793.2	NP_942088.1	Q08722	CD47_HUMAN	CD47 molecule	97	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|integrin-mediated signaling pathway|leukocyte migration|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to plasma membrane	protein binding|thrombospondin receptor activity			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(3;0.0191)|Epithelial(53;0.118)			CATCTTCAAAGAGGCATCTCC	0.393000													9	102					0	0	0.004482	0	0
PIWIL2	55124	broad.mit.edu	37	8	22147834	22147834	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:22147834C>T	ENST00000356766.6	+	10	1304	c.1156C>T	c.(1156-1158)Cgg>Tgg	p.R386W	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R386W|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R386W	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	386	PAZ.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TAAGGTCATTCGGAATGACTG	0.473000													3	22					0	0	0.004672	0	0
CHD4	1108	broad.mit.edu	37	12	6697099	6697099	+	Missense_Mutation	SNP	T	T	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:6697099T>C	ENST00000309577.6	-	24	3645	c.3482A>G	c.(3481-3483)cAc>cGc	p.H1161R	CHD4_ENST00000544484.1_Missense_Mutation_p.H1158R|CHD4_ENST00000357008.2_Missense_Mutation_p.H1161R|CHD4_ENST00000544040.1_Missense_Mutation_p.H1154R			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1161	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCCAATCCGGTGAGCTCTGCT	0.448000													22	55					0	0	0.014323	0	0
LBP	3929	broad.mit.edu	37	20	36997691	36997691	+	Missense_Mutation	SNP	C	C	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:36997691C>G	ENST00000217407.2	+	10	1195	c.1034C>G	c.(1033-1035)tCt>tGt	p.S345C		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	345					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCAGTGCCCTCTGCTCCGCTC	0.512000													50	125					0	0	0.014410	0	0
PRRC2B	84726	broad.mit.edu	37	9	134350175	134350175	+	Missense_Mutation	SNP	G	G	C			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:134350175G>C	ENST00000357304.4	+	15	2714	c.2659G>C	c.(2659-2661)Gag>Cag	p.E887Q	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	887							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CCATGGTGTTGAGCGGGAGAC	0.587000													10	31					0	0	0.006214	0	0
RPL23A	6147	broad.mit.edu	37	17	27047846	27047846	+	Silent	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:27047846G>A	ENST00000422514.2	+	2	760	c.147G>A	c.(145-147)ccG>ccA	p.P49P	RPL23A_ENST00000394938.4_Silent_p.P87P|RPL23A_ENST00000496182.1_5'UTR|RPL23A_ENST00000472628.1_5'UTR	NM_000984.5	NP_000975.2	P62750	RL23A_HUMAN	ribosomal protein L23a	49					cell proliferation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	nucleotide binding|protein binding|rRNA binding|structural constituent of ribosome			endometrium(1)|lung(3)|ovary(1)	5	Lung NSC(42;0.00431)					TCCGGCGGCCGAAGACACTGC	0.537000											OREG0024282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	74					0	0	0.016723	0	0
OR4N2	390429	broad.mit.edu	37	14	20295677	20295677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:20295677C>T	ENST00000568211.1	+	1	70	c.70C>T	c.(70-72)Cag>Tag	p.Q24*	OR4N2_ENST00000315947.1_Nonsense_Mutation_p.Q24*			Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCAAGATATTCAGCTCCTGGT	0.428000													6	237					0	0	0.001168	0	0
MIP	4284	broad.mit.edu	37	12	56848280	56848280	+	Missense_Mutation	SNP	G	G	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:56848280G>T	ENST00000257979.4	-	1	146	c.118C>A	c.(118-120)Cat>Aat	p.H40N	MIP_ENST00000555551.1_Intron	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	40					response to stimulus|visual perception	gap junction|integral to plasma membrane	structural constituent of eye lens			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						TGCAGAACATGCAGGGGTCCA	0.572000													29	75					1.77063e-15	2.24855e-15	0.005443	1	0
SEL1L	6400	broad.mit.edu	37	14	81964292	81964292	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:81964292C>T	ENST00000336735.4	-	10	1188	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	358	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)		ATCAAATCTTCTTCTAGCATT	0.403000													4	51					0	0	0.009096	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													6	68					0	0	0.001984	0	0
ZIK1	284307	broad.mit.edu	37	19	58101402	58101402	+	Missense_Mutation	SNP	G	G	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:58101402G>A	ENST00000597850.1	+	4	438	c.223G>A	c.(223-225)Gaa>Aaa	p.E75K	ZIK1_ENST00000307468.4_Missense_Mutation_p.M19I|ZIK1_ENST00000536878.2_Missense_Mutation_p.E62K|ZIK1_ENST00000599456.1_Missense_Mutation_p.E20K	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACAGAGGATGAAGAGACACC	0.463000													7	37					0	0	0.001984	0	0
LAMC3	10319	broad.mit.edu	37	9	133951336	133951336	+	Missense_Mutation	SNP	C	C	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr9:133951336C>T	ENST00000361069.4	+	21	3746	c.3613C>T	c.(3613-3615)Cgg>Tgg	p.R1205W	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1205	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGAGACCCAGCGGGACCTGGA	0.632000													3	28					0	0	0.004672	0	0
GPR75	10936	broad.mit.edu	37	2	54080407	54080407	+	Missense_Mutation	SNP	C	C	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:54080407C>A	ENST00000394705.2	-	2	1757	c.1487G>T	c.(1486-1488)aGc>aTc	p.S496I	ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	496						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GTTACATGGGCTGCTCTCCTC	0.463000													53	159					5.22555e-25	6.91122e-25	0.014410	1	0
CYP4B1	1580	broad.mit.edu	37	1	47264795	47264796	+	Frame_Shift_Ins	INS	-	-	CT			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:47264795_47264796insCT	ENST00000271153.4	+	1	78_79	c.42_43insCT	c.(40-45)ggtgtgfs	p.V15fs	CYP4B1_ENST00000546128.1_Intron|CYP4B1_ENST00000371923.4_Frame_Shift_Ins_p.V15fs|CYP4B1_ENST00000371919.4_Frame_Shift_Ins_p.V15fs			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	15					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCTCCTTGGGCCTGTGGGCTTC	0.579													11	35	---	---	---	---					
RP11-782C8.2	0	broad.mit.edu	37	1	143210193	143210194	+	RNA	INS	-	-	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr1:143210193_143210194insT	ENST00000412204.2	-	0	876_877				RP11-782C8.1_ENST00000438000.1_lincRNA																							GGCAGCATTTGTTTTTTTAACA	0.317													7	86	---	---	---	---					
ANKRD36	375248	broad.mit.edu	37	2	97808574	97808575	+	Splice_Site	INS	-	-	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr2:97808574_97808575insA	ENST00000420699.2	+	8	1145		c.e8+2		ANKRD36_ENST00000461153.2_Splice_Site	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36									p.?(1)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTGGGACAGGTATTTTGGAATA	0.366													8	9	---	---	---	---					
SYN2	6854	broad.mit.edu	37	3	12209961	12209961	+	RNA	DEL	A	A	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:12209961delA	ENST00000432424.2	+	0	1313							Q86VA8	Q86VA8_HUMAN	synapsin II						neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						CAAAGATGGGAAAGACTACAT	0.483													7	31	---	---	---	---					
SLC22A13	9390	broad.mit.edu	37	3	38315780	38315780	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:38315780delT	ENST00000311856.4	+	2	445	c.396delT	c.(394-396)gafs	p.D132fs	SLC22A13_ENST00000450935.2_Frame_Shift_Del_p.D91fs	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	132						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		TGGTTTGTGATCGGAAGCACC	0.572													26	100	---	---	---	---					
AMOTL2	51421	broad.mit.edu	37	3	134089682	134089683	+	Frame_Shift_Ins	INS	-	-	A			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr3:134089682_134089683insA	ENST00000514516.1	-	2	945_946	c.767_768insT	c.(766-768)gccfs	p.A256fs	AMOTL2_ENST00000249883.5_Frame_Shift_Ins_p.A198fs|AMOTL2_ENST00000513145.1_Frame_Shift_Ins_p.A198fs|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000422605.2_Frame_Shift_Ins_p.A198fs	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	198										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CAGCAGGGGGGCCCCTCAGTGG	0.668													28	53	---	---	---	---					
NCOA7	135112	broad.mit.edu	37	6	126210672	126210673	+	Frame_Shift_Ins	INS	-	-	T			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr6:126210672_126210673insT	ENST00000368357.3	+	10	1824_1825	c.1472_1473insT	c.(1471-1473)gatfs	p.D491fs	NCOA7_ENST00000392477.2_Frame_Shift_Ins_p.D491fs|NCOA7_ENST00000229634.9_Frame_Shift_Ins_p.D376fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	491					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)		GAGAAGCAAGATATAATGCCAG	0.436													19	34	---	---	---	---					
ADAM22	53616	broad.mit.edu	37	7	87772416	87772417	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr7:87772416_87772417insCA	ENST00000398204.4	+	15	1619_1620	c.1296_1297insCA	c.(1294-1299)gcgcctfs	p.P433fs	ADAM22_ENST00000265727.7_Frame_Shift_Ins_p.P433fs|ADAM22_ENST00000315984.7_Frame_Shift_Ins_p.P433fs|ADAM22_ENST00000398201.4_Frame_Shift_Ins_p.P433fs|ADAM22_ENST00000398209.3_Frame_Shift_Ins_p.P433fs	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	433	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGTGGTGCCTGCCTTTTCAA	0.312													36	105	---	---	---	---					
SLC26A7	115111	broad.mit.edu	37	8	92346585	92346585	+	Frame_Shift_Del	DEL	G	G	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr8:92346585delG	ENST00000276609.3	+	6	944	c.705delG	c.(703-705)ttfs	p.L236fs	SLC26A7_ENST00000523719.1_Frame_Shift_Del_p.L236fs|SLC26A7_ENST00000309536.2_Frame_Shift_Del_p.L236fs	NM_052832.2	NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	236						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TTTTATCCTTGCTGAGCATTG	0.323													14	61	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	RNA	INS	-	-	T	rs141632958		TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401																											cattctTTTTCTTTTTTTTTTT	0.361													4	4	---	---	---	---					
KITLG	4254	broad.mit.edu	37	12	88912534	88912534	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr12:88912534delT	ENST00000347404.5	-	4	875	c.303delA	c.(301-303)atfs	p.I101fs	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Frame_Shift_Del_p.I101fs	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	101					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						CAAGTTTGTCTATGATGGAAT	0.368									Testicular Cancer, Familial Clustering of				20	52	---	---	---	---					
MAP3K9	4293	broad.mit.edu	37	14	71275774	71275776	+	In_Frame_Del	DEL	CCT	CCT	-	rs3832971		TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr14:71275774_71275776delCCT	ENST00000554752.2	-	1	112_114	c.113_115delAGG	c.(112-117)gcg>g	p.EA38del	MAP3K9_ENST00000555993.2_In_Frame_Del_p.EA38del|MAP3K9_ENST00000381250.4_In_Frame_Del_p.EA38del			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	38	Ala-rich.|Poly-Glu.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity	p.E38delE(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCCGCCGCCGcctcctcctcctc	0.773													3	5	---	---	---	---					
MYH1	4619	broad.mit.edu	37	17	10408226	10408226	+	Frame_Shift_Del	DEL	T	T	-			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr17:10408226delT	ENST00000226207.5	-	22	2686	c.2592delA	c.(2590-2592)aafs	p.K864fs	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	864						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCAGCTCTTCTTTGGTTTTCT	0.438													43	95	---	---	---	---					
STK11	6794	broad.mit.edu	37	19	1206999	1207000	+	Frame_Shift_Ins	INS	-	-	G			TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:1206999_1207000insG	ENST00000326873.7	+	1	1260_1261	c.87_88insG	c.(85-90)atactcfs	p.IL29fs	STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	29					anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCACCGCATCGACTCCACCGA	0.639		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			23	22	---	---	---	---					
CTD-2245F17.3	0	broad.mit.edu	37	19	53703995	53703995	+	RNA	DEL	T	T	-	rs113703393		TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chr19:53703995delT	ENST00000597550.1	+	0	232																											TGTTTCCCCCttttttttttt	0.473													4	3	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-78-7152-01A-11D-2036-08	TCGA-78-7152-10A-01D-2036-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9fa520a-1690-41d8-b3ca-03167816f6f9	99629441-f559-4b02-a416-757e40c92eb6	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													3	3	---	---	---	---					
