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
PTPRU	10076	broad.mit.edu	37	1	29609426	29609426	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:29609426C>G	ENST00000323874.8	+	12	2217	c.2107C>G	c.(2107-2109)Ctc>Gtc	p.L703V	PTPRU_ENST00000356870.3_Missense_Mutation_p.L703V|PTPRU_ENST00000428026.2_Missense_Mutation_p.L703V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000345512.3_Missense_Mutation_p.L703V|PTPRU_ENST00000460170.2_Missense_Mutation_p.L703V|PTPRU_ENST00000373779.3_Missense_Mutation_p.L703V			Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	703					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAAGGCCTATCTCATCTACTT	0.617000													12	53					0	0	0.016723	0	0
PRDM8	56978	broad.mit.edu	37	4	81122461	81122461	+	Silent	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:81122461A>C	ENST00000339711.4	+	9	1468	c.237A>C	c.(235-237)gcA>gcC	p.A79A	PRDM8_ENST00000415738.2_Silent_p.A79A|PRDM8_ENST00000504452.1_Silent_p.A79A	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	79	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						CCTCAGCAGCAAATGGTTCCT	0.478000													9	18					0	0	0.010729	0	0
METTL21A	151194	broad.mit.edu	37	2	208478045	208478045	+	Missense_Mutation	SNP	T	T	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:208478045T>G	ENST00000411432.1	-	4	598	c.382A>C	c.(382-384)Aat>Cat	p.N128H	METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000272839.3_Missense_Mutation_p.N146H|METTL21A_ENST00000426075.1_Missense_Mutation_p.N128H|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000406927.2_Missense_Mutation_p.N128H|METTL21A_ENST00000448823.2_3'UTR|METTL21A_ENST00000458426.1_Intron|METTL21A_ENST00000448007.2_Missense_Mutation_p.N128H|METTL21A_ENST00000442521.1_Missense_Mutation_p.N128H	NM_001127395.1	NP_001120867.1	Q8WXB1	MT21A_HUMAN	methyltransferase like 21A	128						integral to membrane	methyltransferase activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|stomach(1)	10						CTCCCCAAATTTTGTCCCCAA	0.368000													24	33					0	0	0.007291	0	0
CENPC	1060	broad.mit.edu	37	4	68385088	68385088	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:68385088G>A	ENST00000273853.6	-	6	714	c.464C>T	c.(463-465)tCc>tTc	p.S155F		NM_001812.2	NP_001803.2			centromere protein C																		TGAGCCAACGGATAAGTAAAA	0.343000													23	83					0	0	0.021523	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187712479	187712479	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:187712479G>A	ENST00000295131.2	-	2	248	c.209C>T	c.(208-210)cCg>cTg	p.P70L		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCTCCTTTCGGAAATGTGGA	0.348000													25	35					0	0	0.010818	0	0
MYO7B	4648	broad.mit.edu	37	2	128394476	128394476	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:128394476C>A	ENST00000389524.4	+	46	6293	c.6240C>A	c.(6238-6240)tgC>tgA	p.C2080*	MYO7B_ENST00000428314.1_Nonsense_Mutation_p.C2079*|MYO7B_ENST00000409816.2_Nonsense_Mutation_p.C2079*|MYO7B_ENST00000409090.1_Nonsense_Mutation_p.C932*			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2079	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCCTGCTGTGCGAGACCTCCC	0.612000													3	40					0.004672	0.00490303	0.004672	1	0
NYAP2	57624	broad.mit.edu	37	2	226447438	226447438	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:226447438C>T	ENST00000272907.6	+	4	1718	c.1305C>T	c.(1303-1305)acC>acT	p.T435T	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	K1486_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	435	Pro-rich.																GTCACTCCACCTCTCCCTCCC	0.647000													9	12					0	0	0.006214	0	0
SMC4	10051	broad.mit.edu	37	3	160141353	160141353	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:160141353C>G	ENST00000357388.3	+	14	2611	c.2160C>G	c.(2158-2160)aaC>aaG	p.N720K	SMC4_ENST00000344722.5_Missense_Mutation_p.N720K|SMC4_ENST00000462787.1_Missense_Mutation_p.N720K|SMC4_ENST00000469762.1_Missense_Mutation_p.N695K|RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.N720K	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	720	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAGCTGACAACTTGGATCAAG	0.343000													53	389					0	0	0.014410	0	0
GRIN2A	2903	broad.mit.edu	37	16	10274118	10274118	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:10274118G>C	ENST00000396573.2	-	3	460	c.151C>G	c.(151-153)Ctt>Gtt	p.L51V	GRIN2A_ENST00000562109.1_Missense_Mutation_p.L51V|GRIN2A_ENST00000330684.3_Missense_Mutation_p.L51V|GRIN2A_ENST00000396575.2_Missense_Mutation_p.L51V|GRIN2A_ENST00000404927.2_Missense_Mutation_p.L51V	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	51					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGTGTTCGAAGTTCGCGCTCT	0.682000													16	93					0	0	0.007413	0	0
ZNF639	51193	broad.mit.edu	37	3	179052100	179052100	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:179052100C>G	ENST00000326361.3	+	7	1793	c.1348C>G	c.(1348-1350)Cta>Gta	p.L450V	ZNF639_ENST00000496856.1_Missense_Mutation_p.L450V|ZNF639_ENST00000484866.1_Missense_Mutation_p.L450V	NM_016331.1	NP_057415.1	Q9UID6	ZN639_HUMAN	zinc finger protein 639	450	Interaction with CTNNA2.				initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent	nucleus	protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1)	16	all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TAAAATTCATCTAGATTTCAA	0.323000													32	162					0	0	0.009535	0	0
YEATS2	55689	broad.mit.edu	37	3	183493712	183493712	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:183493712C>G	ENST00000305135.5	+	18	2573	c.2378C>G	c.(2377-2379)tCt>tGt	p.S793C		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	793					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GATCTCCAGTCTGGCTCAGCT	0.522000													20	146					0	0	0.008871	0	0
OR8K5	219453	broad.mit.edu	37	11	55927085	55927085	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:55927085C>A	ENST00000313447.1	-	1	708	c.709G>T	c.(709-711)Gct>Tct	p.A237S		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408000													13	33					1.5842e-08	1.76949e-08	0.016723	1	0
FAT1	2195	broad.mit.edu	37	4	187535482	187535482	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:187535482G>A	ENST00000441802.2	-	12	9301	c.9092C>T	c.(9091-9093)aCt>aTt	p.T3031I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3031	Cadherin 28.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCAGGAATAGTGTCTGAATA	0.378000										HNSCC(5;0.00058)			19	56					0	0	0.007413	0	0
RP11-337C18.8	0	broad.mit.edu	37	1	146650721	146650721	+	RNA	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:146650721G>T	ENST00000607149.1	+	0	350																											AGGATTTCTCGCGTGATGGGA	0.468000													212	89					6.85672e-94	8.23669e-94	0.014410	1	0
SLITRK5	26050	broad.mit.edu	37	13	88330088	88330088	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:88330088G>A	ENST00000325089.6	+	2	2664	c.2445G>A	c.(2443-2445)ctG>ctA	p.L815L	SLITRK5_ENST00000400028.3_Silent_p.L574L	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	815						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					agctgcagctgcagcCCGGGG	0.711000													3	6					0	0	0.001168	0	0
CUBN	8029	broad.mit.edu	37	10	17113568	17113568	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:17113568G>A	ENST00000377833.4	-	19	2547	c.2482C>T	c.(2482-2484)Cgc>Tgc	p.R828C		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	828	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAGGCGAGCGAATGACCCCT	0.413000													17	66					0	0	0.007413	0	0
ERC1	23085	broad.mit.edu	37	12	1250924	1250924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:1250924G>T	ENST00000397203.2	+	8	2114	c.1708G>T	c.(1708-1710)Gag>Tag	p.E570*	ERC1_ENST00000360905.4_Nonsense_Mutation_p.E570*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E570*|ERC1_ENST00000543086.3_Nonsense_Mutation_p.E542*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E570*|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E570*|ERC1_ENST00000536573.2_3'UTR			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	570					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GGATGTGAAGGAGCGGAAGGT	0.423000													16	275					1.15088e-07	1.27062e-07	0.004007	1	0
C9orf50	375759	broad.mit.edu	37	9	132375462	132375462	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:132375462G>A	ENST00000372478.4	-	6	1313	c.1112C>T	c.(1111-1113)tCa>tTa	p.S371L	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	371										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				CTTCTTCCATGAACAGAAGGG	0.607000													11	33					0	0	0.008291	0	0
CARD11	84433	broad.mit.edu	37	7	2987368	2987368	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:2987368C>T	ENST00000396946.4	-	3	464	c.61G>A	c.(61-63)Gcc>Acc	p.A21T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	21	CARD.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCCACAAGGCGTCCTCTTCA	0.507000			Mis		DLBCL								27	99					0	0	0.012213	0	0
KIAA1109	84162	broad.mit.edu	37	4	123270379	123270379	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:123270379C>T	ENST00000264501.4	+	78	13720	c.13347C>T	c.(13345-13347)atC>atT	p.I4449I	KIAA1109_ENST00000388738.3_Silent_p.I4449I			Q2LD37	K1109_HUMAN	KIAA1109	4449					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATCGAGAGATCAGCATGTCTG	0.403000													12	37					0	0	0.020292	0	0
OR8J3	81168	broad.mit.edu	37	11	55905136	55905136	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:55905136C>T	ENST00000301529.1	-	1	58	c.59G>A	c.(58-60)tGt>tAt	p.C20Y		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGCTCTGGACAGCTAGAGAC	0.478000													33	93					0	0	0.005524	0	0
RPGR	6103	broad.mit.edu	37	X	38145068	38145068	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:38145068C>G	ENST00000378505.2	-	15	3360	c.3184G>C	c.(3184-3186)Gag>Cag	p.E1062Q	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	845					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						tcttcctcctcctcttctctg	0.488000													39	31					0	0	0.006230	0	0
RCC1	1104	broad.mit.edu	37	1	28864461	28864461	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:28864461C>A	ENST00000373833.6	+	13	1493	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	RCC1_ENST00000398958.2_Missense_Mutation_p.S403Y|RCC1_ENST00000373831.3_Missense_Mutation_p.S434Y|RCC1_ENST00000373832.1_Missense_Mutation_p.S403Y			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	403					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTCTTATCTGTGTCCAGC	0.577000													5	20					0.000602214	0.000642586	0.014758	1	0
CCDC87	55231	broad.mit.edu	37	11	66359037	66359037	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:66359037C>G	ENST00000333861.3	-	1	1517	c.1450G>C	c.(1450-1452)Gat>Cat	p.D484H		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	484										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ACAAAGTTATCAATATCCATT	0.463000													29	84					0	0	0.012213	0	0
PARS2	25973	broad.mit.edu	37	1	55224719	55224719	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:55224719C>T	ENST00000371279.3	-	2	198	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	39					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	CAGCAGCAGGCGCCGCCCTCT	0.607000													4	20					0	0	0.009096	0	0
KCTD16	57528	broad.mit.edu	37	5	143586683	143586683	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:143586683C>G	ENST00000507359.2	+	2	1497	c.406C>G	c.(406-408)Cac>Gac	p.H136D	KCTD16_ENST00000512467.1_Missense_Mutation_p.H136D	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16	136						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGAATTCTGCCACAGTGACTT	0.522000													28	43					0	0	0.008361	0	0
JAK3	3718	broad.mit.edu	37	19	17942159	17942159	+	Silent	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:17942159G>T	ENST00000458235.1	-	21	2955	c.2856C>A	c.(2854-2856)gcC>gcA	p.A952A	JAK3_ENST00000534444.1_Silent_p.A952A|JAK3_ENST00000527670.1_Silent_p.A952A	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	952	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GGATGTTTCGGGCGGCCAGGT	0.652000		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""								26	107					5.77227e-19	6.72258e-19	0.008361	1	0
ZNF814	730051	broad.mit.edu	37	19	58385762	58385762	+	Silent	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:58385762C>G	ENST00000435989.2	-	3	1230	c.996G>C	c.(994-996)tcG>tcC	p.S332S	ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	332					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.S332S(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						ATTTGCTAAACGATTTCCCAC	0.358000													3	5					0	0	0.004672	0	0
ZFAND3	60685	broad.mit.edu	37	6	38120124	38120124	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:38120124G>C	ENST00000287218.4	+	6	1090	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	ZFAND3_ENST00000373391.2_Missense_Mutation_p.V193L|ZFAND3_ENST00000463847.1_3'UTR	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	215							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GGACCGGAAAGTGGGGCGCTC	0.577000													69	67					0	0	0.014410	0	0
UGT1A7	54577	broad.mit.edu	37	2	234591112	234591112	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:234591112C>G	ENST00000373426.3	+	1	529	c.529C>G	c.(529-531)Ctt>Gtt	p.L177V	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTGCCACTATCTTGAAGAAGG	0.483000													56	100					0	0	0.014410	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	59					0	0	0.014758	0	0
LRRN3	54674	broad.mit.edu	37	7	110763135	110763135	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:110763135A>T	ENST00000451085.1	+	4	1353	c.307A>T	c.(307-309)Aat>Tat	p.N103Y	LRRN3_ENST00000308478.5_Missense_Mutation_p.N103Y|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.N103Y|IMMP2L_ENST00000331762.3_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	103						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATCTCAAAACAATTTATCTTC	0.353000													5	35					0	0	0.001168	0	0
TRAJ23	28732	broad.mit.edu	37	14	22989438	22989438	+	RNA	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:22989438G>T	ENST00000390514.1	+	0	45																											ACAGGGAACGGAGTTATCTGT	0.393000													22	49					1.55469e-16	1.78883e-16	0.018920	1	0
ZKSCAN2	342357	broad.mit.edu	37	16	25268325	25268325	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:25268325C>G	ENST00000328086.7	-	1	927	c.124G>C	c.(124-126)Gag>Cag	p.E42Q		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	42					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CGGAAGGTCTCAGAGCTATCC	0.522000											OREG0023690	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	40					0	0	0.020292	0	0
NRP1	8829	broad.mit.edu	37	10	33619748	33619748	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:33619748G>A	ENST00000265371.4	-	3	661	c.136C>T	c.(136-138)Cat>Tat	p.H46Y	NRP1_ENST00000374816.3_Missense_Mutation_p.H46Y|NRP1_ENST00000374821.5_Missense_Mutation_p.H46Y|NRP1_ENST00000374822.4_Missense_Mutation_p.H46Y|NRP1_ENST00000374823.5_Missense_Mutation_p.H46Y|NRP1_ENST00000374867.2_Missense_Mutation_p.H46Y|NRP1_ENST00000395995.1_Missense_Mutation_p.H46Y			O14786	NRP1_HUMAN	neuropilin 1	46	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATAAGAATGAGGATAACCA	0.418000													24	30					0	0	0.018920	0	0
PAK2	5062	broad.mit.edu	37	3	196530019	196530019	+	Silent	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:196530019G>C	ENST00000327134.3	+	4	742	c.420G>C	c.(418-420)ctG>ctC	p.L140L		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	140					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		AGAAATATCTGAGCTTTACTC	0.418000													16	113					0	0	0.006122	0	0
GRIK2	2898	broad.mit.edu	37	6	102503442	102503442	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:102503442C>A	ENST00000369138.1	+	15	3039	c.2549C>A	c.(2548-2550)gCt>gAt	p.A850D	GRIK2_ENST00000421544.1_Missense_Mutation_p.A850D|GRIK2_ENST00000413795.1_Missense_Mutation_p.A850D|GRIK2_ENST00000369137.3_Missense_Mutation_p.A774D|GRIK2_ENST00000318991.6_Missense_Mutation_p.A850D|GRIK2_ENST00000369134.4_Missense_Mutation_p.A801D	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	850					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AAAAAAAACGCTCAATTGGAA	0.328000													20	100					9.95505e-16	1.13857e-15	0.014323	1	0
COL5A1	1289	broad.mit.edu	37	9	137715309	137715309	+	Silent	SNP	C	C	A	rs61735501	byFrequency	TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:137715309C>A	ENST00000371817.3	+	61	5106	c.4692C>A	c.(4690-4692)ggC>ggA	p.G1564G		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1564	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACCCCCAGGCCCCCCGGTAA	0.597000													26	50					1.74197e-06	1.90124e-06	0.006320	1	0
PROCA1	147011	broad.mit.edu	37	17	27038611	27038611	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:27038611G>C	ENST00000301039.2	-	1	261	c.68C>G	c.(67-69)tCg>tGg	p.S23W	PROCA1_ENST00000581289.1_Missense_Mutation_p.S23W	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	23					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CTCATCCCACGAGCGGGCCTT	0.672000													6	209					0	0	0.004482	0	0
ZNF12	7559	broad.mit.edu	37	7	6731676	6731676	+	Nonsense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:6731676A>T	ENST00000405858.1	-	5	1438	c.897T>A	c.(895-897)tgT>tgA	p.C299*	ZNF12_ENST00000404360.1_Nonsense_Mutation_p.C225*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.C261*|AC073343.2_ENST00000577401.1_RNA|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	299					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		CACACTGATTACATTCGTAAG	0.423000													70	51					0	0	0.014410	0	0
THG1L	54974	broad.mit.edu	37	5	157166327	157166327	+	Splice_Site	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:157166327A>T	ENST00000231198.7	+	6	979		c.e6-1			NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)						protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTACCTGTAGGTGGATGAA	0.428000													17	26					0	0	0.004990	0	0
IPO5	3843	broad.mit.edu	37	13	98668033	98668033	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:98668033G>A	ENST00000261574.5	+	24	2725	c.2545G>A	c.(2545-2547)Gag>Aag	p.E849K	IPO5_ENST00000490680.1_Missense_Mutation_p.E831K|IPO5_ENST00000539640.1_Missense_Mutation_p.E706K	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	831					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACTACAAGATGAGGTAAGTTA	0.358000													11	27					0	0	0.016723	0	0
HERC2	8924	broad.mit.edu	37	15	28358347	28358347	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:28358347A>G	ENST00000261609.7	-	92	14210	c.14102T>C	c.(14101-14103)aTc>aCc	p.I4701T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4701	HECT.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAACCACTGGATCAGCGATGC	0.607000													11	48					0	0	0.013537	0	0
ZNF624	57547	broad.mit.edu	37	17	16527489	16527489	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:16527489C>G	ENST00000311331.7	-	6	802	c.711G>C	c.(709-711)ttG>ttC	p.L237F		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TATCTGTAATCAAATTTAAAT	0.383000													22	66					0	0	0.010504	0	0
GSTA4	2941	broad.mit.edu	37	6	52847396	52847396	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:52847396G>A	ENST00000541324.1	-	4	508	c.243C>T	c.(241-243)atC>atT	p.I81I	GSTA4_ENST00000370960.1_Silent_p.I81I|GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000370959.1_Silent_p.I174I			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	174	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	ATGCAGACAGGATATTAGGAA	0.408000													19	39					0	0	0.012319	0	0
ZNF383	163087	broad.mit.edu	37	19	37733511	37733511	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:37733511A>G	ENST00000589413.1	+	8	956	c.373A>G	c.(373-375)Agc>Ggc	p.S125G	ZNF383_ENST00000352998.3_Missense_Mutation_p.S125G|ZNF383_ENST00000590503.1_Missense_Mutation_p.S125G			Q8NA42	ZN383_HUMAN	zinc finger protein 383	125					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAATATAGAAGCCACCTTGC	0.383000													46	87					0	0	0.014410	0	0
WIPF3	644150	broad.mit.edu	37	7	29923502	29923502	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:29923502C>T	ENST00000409290.1	+	4	392	c.392C>T	c.(391-393)cCc>cTc	p.P131L	WIPF3_ENST00000409123.1_Missense_Mutation_p.P131L|WIPF3_ENST00000242140.5_Missense_Mutation_p.P131L	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	131										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						TCCCGCGCGCCCTCTCCCAGG	0.627000													6	18					0	0	0.001168	0	0
INPP5B	3633	broad.mit.edu	37	1	38357097	38357097	+	Missense_Mutation	SNP	T	T	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:38357097T>A	ENST00000373023.2	-	8	895	c.802A>T	c.(802-804)Aat>Tat	p.N268Y	INPP5B_ENST00000373026.1_Missense_Mutation_p.N268Y|INPP5B_ENST00000373024.3_Missense_Mutation_p.N188Y|INPP5B_ENST00000373027.1_Missense_Mutation_p.N24Y	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	268					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTCCCATTTGGTCTCAAA	0.448000													44	87					0	0	0.014410	0	0
ROBO2	6092	broad.mit.edu	37	3	77600053	77600053	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:77600053C>G	ENST00000461745.1	+	8	2044	c.1144C>G	c.(1144-1146)Caa>Gaa	p.Q382E	ROBO2_ENST00000487694.3_Missense_Mutation_p.Q398E|ROBO2_ENST00000332191.8_Missense_Mutation_p.Q382E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	382	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACCAACATTCAACGTTCCGA	0.488000													16	34					0	0	0.004007	0	0
TBX15	6913	broad.mit.edu	37	1	119474283	119474283	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:119474283G>A	ENST00000369429.3	-	2	387	c.378C>T	c.(376-378)ttC>ttT	p.F126F	TBX15_ENST00000207157.3_Silent_p.F20F			Q96SF7	TBX15_HUMAN	T-box 15	126						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CAATATCATGGAACCGCTTCC	0.507000													19	32					0	0	0.010504	0	0
CHRNG	1146	broad.mit.edu	37	2	233410382	233410382	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:233410382C>G	ENST00000389494.3	+	12	1531	c.1510C>G	c.(1510-1512)Cca>Gca	p.P504A	CHRNG_ENST00000389492.3_Missense_Mutation_p.P452A	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	504					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCCGGCCCTGCCATTCCCTGG	0.617000													17	43					0	0	0.004990	0	0
OR5M9	390162	broad.mit.edu	37	11	56230773	56230773	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:56230773G>A	ENST00000279791.1	-	1	104	c.105C>T	c.(103-105)atC>atT	p.I35I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCAACAGAGTGATCATGTAAA	0.443000													15	27					0	0	0.020292	0	0
DDX11	1663	broad.mit.edu	37	12	31253973	31253973	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:31253973C>T	ENST00000407793.2	+	20	2212	c.1961C>T	c.(1960-1962)cCt>cTt	p.P654L	DDX11_ENST00000542838.1_Missense_Mutation_p.P654L|DDX11_ENST00000350437.4_Missense_Mutation_p.P654L|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.P628L|DDX11_ENST00000545668.1_Missense_Mutation_p.P654L	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	654					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CACGTGATCCCTCCAGACAAC	0.582000										Multiple Myeloma(12;0.14)			15	114					0	0	0.021022	0	0
DENND6A	201627	broad.mit.edu	37	3	57658127	57658127	+	Splice_Site	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:57658127T>C	ENST00000311128.5	-	2	346	c.276_splice	c.e2+1	p.E92_splice		NM_152678.2	NP_689891.1			DENN/MADD domain containing 6A																		TTTTACTTACTTCTCTGTCAG	0.254000													39	13					0	0	0.010771	0	0
DHX36	170506	broad.mit.edu	37	3	154022638	154022638	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:154022638C>A	ENST00000496811.1	-	8	1172	c.1092G>T	c.(1090-1092)ttG>ttT	p.L364F	DHX36_ENST00000308361.6_Missense_Mutation_p.L364F|DHX36_ENST00000329463.5_Missense_Mutation_p.L364F|DHX36_ENST00000544526.1_Missense_Mutation_p.L364F	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	364	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTGCACTCATCAATATTACTT	0.289000													10	78					0.000978159	0.00103794	0.010729	1	0
KIT	3815	broad.mit.edu	37	4	55594190	55594190	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:55594190G>C	ENST00000288135.5	+	13	1990	c.1893G>C	c.(1891-1893)ttG>ttC	p.L631F		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	631	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCCCATTTGACAGAACGGG	0.438000		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				5	71					0	0	0.001984	0	0
REEP5	7905	broad.mit.edu	37	5	112238181	112238181	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:112238181C>T	ENST00000379638.4	-	3	595	c.247G>A	c.(247-249)Gat>Aat	p.D83N	REEP5_ENST00000504247.1_Intron|REEP5_ENST00000545426.1_Missense_Mutation_p.D83N|REEP5_ENST00000513339.1_Missense_Mutation_p.D83N|REEP5_ENST00000474542.2_5'UTR	NM_005669.4	NP_005660.4	Q00765	REEP5_HUMAN	receptor accessory protein 5	83						integral to membrane	protein binding			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443)		Epithelial(69;1.3e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.26e-08)|all cancers(49;3.56e-07)|Colorectal(14;0.00778)|COAD - Colon adenocarcinoma(37;0.013)		CACTGGGTATCATCTTCTTTG	0.383000													16	48					0	0	0.004007	0	0
HECA	51696	broad.mit.edu	37	6	139495643	139495643	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:139495643C>T	ENST00000367658.2	+	3	1719	c.1434C>T	c.(1432-1434)acC>acT	p.T478T	RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590219.1_RNA|RP1-225E12.2_ENST00000585447.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	478					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CTATGTACACCTACGACATCC	0.547000													12	131					0	0	0.020292	0	0
AIM1L	55057	broad.mit.edu	37	1	26658052	26658052	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:26658052G>A	ENST00000527815.1	-	14	1669	c.1620C>T	c.(1618-1620)ggC>ggT	p.G540G	AIM1L_ENST00000308182.5_Silent_p.G369G	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	369	Ricin B-type lectin.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGGAACTCGCCCTCAGAGA	0.567000													18	29					0	0	0.004990	0	0
HUWE1	10075	broad.mit.edu	37	X	53631658	53631658	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:53631658G>A	ENST00000342160.3	-	25	3091	c.2634C>T	c.(2632-2634)ggC>ggT	p.G878G	HUWE1_ENST00000218328.8_Silent_p.G878G|HUWE1_ENST00000262854.6_Silent_p.G878G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	878					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGCAACATTGCCTGCGCAAG	0.562000													8	17					0	0	0.003080	0	0
UBE4A	9354	broad.mit.edu	37	11	118260439	118260439	+	Splice_Site	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:118260439G>A	ENST00000252108.3	+	17	2718		c.e17-1		UBE4A_ENST00000431736.2_Splice_Site|UBE4A_ENST00000545354.1_Splice_Site	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A						ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TTCTTTTCCAGAGATCAAGTC	0.433000													25	84					0	0	0.021523	0	0
BICC1	80114	broad.mit.edu	37	10	60559980	60559980	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:60559980A>G	ENST00000373886.3	+	13	1756	c.1752A>G	c.(1750-1752)atA>atG	p.I584M	BICC1_ENST00000263103.1_Missense_Mutation_p.I210M	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	bicaudal C homolog 1 (Drosophila)	584					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						ATGGTGCAATATCCACTTCAT	0.388000													15	7					0	0	0.006122	0	0
MYH6	4624	broad.mit.edu	37	14	23866199	23866199	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:23866199C>T	ENST00000405093.3	-	18	2211	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	MYH6_ENST00000356287.3_Missense_Mutation_p.R714H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	714	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GTAGAGGATGCGGTTGGGGAA	0.632000													3	38					0	0	0.004672	0	0
CGNL1	84952	broad.mit.edu	37	15	57815716	57815716	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:57815716G>A	ENST00000281282.5	+	11	2823	c.2745G>A	c.(2743-2745)caG>caA	p.Q915Q		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	915						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CCCAGGAGCAGAAGCAGTTGT	0.532000													43	20					0	0	0.010771	0	0
ALPPL2	251	broad.mit.edu	37	2	233272041	233272041	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:233272041A>G	ENST00000295453.3	+	3	282	c.230A>G	c.(229-231)cAg>cGg	p.Q77R		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	77					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CTAAAAGGGCAGAAGAAGGAC	0.587000													17	36					0	0	0.012319	0	0
DDI1	414301	broad.mit.edu	37	11	103908425	103908425	+	Missense_Mutation	SNP	G	G	A	rs142985363		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:103908425G>A	ENST00000302259.3	+	1	1118	c.875G>A	c.(874-876)gGa>gAa	p.G292E	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	292					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GTTGCTAAAGGAGTGGGCACA	0.512000													14	25					0	0	0.004007	0	0
PPP2R5E	5529	broad.mit.edu	37	14	63860550	63860550	+	Silent	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:63860550G>C	ENST00000337537.3	-	8	1439	c.837C>G	c.(835-837)ctC>ctG	p.L279L	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Silent_p.L203L|PPP2R5E_ENST00000555899.1_Silent_p.L279L	NM_006246.2	NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	279					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		GTGCATGGAAGAGTGATAAGC	0.348000													6	10					0	0	0.001168	0	0
ANKS1A	23294	broad.mit.edu	37	6	34949518	34949518	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:34949518G>C	ENST00000360359.3	+	4	625	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	ANKS1A_ENST00000535627.1_Missense_Mutation_p.E163Q	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	163						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGGCCACACAGAGGTGGTGAA	0.542000													21	41					0	0	0.016522	0	0
CRTAM	56253	broad.mit.edu	37	11	122724650	122724650	+	Splice_Site	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:122724650G>T	ENST00000227348.4	+	4	393		c.e4-1			NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule						cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTTTGTTCTAGCAACTCCTTT	0.398000													10	35					3.07112e-06	3.33286e-06	0.010729	1	0
IKZF1	10320	broad.mit.edu	37	7	50450284	50450284	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:50450284G>A	ENST00000331340.3	+	5	623	c.468G>A	c.(466-468)caG>caA	p.Q156Q	IKZF1_ENST00000359197.5_Silent_p.Q156Q|IKZF1_ENST00000343574.5_Silent_p.Q69Q|IKZF1_ENST00000439701.1_Silent_p.Q156Q|IKZF1_ENST00000357364.4_Silent_p.Q156Q|IKZF1_ENST00000438033.1_Silent_p.Q69Q|IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Silent_p.Q156Q	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	156	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CATTCACCCAGAAGGGCAACC	0.612000			"""D,T"""	BCL6	"""ALL, DLBCL"""								7	21					0	0	0.001984	0	0
GPR32	2854	broad.mit.edu	37	19	51273921	51273921	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:51273921G>A	ENST00000270590.4	+	1	201	c.64G>A	c.(64-66)Gat>Aat	p.D22N		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	22						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCTGACACGTGATCGCTCTTG	0.527000													11	15					0	0	0.008291	0	0
SETBP1	26040	broad.mit.edu	37	18	42530340	42530340	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr18:42530340G>A	ENST00000282030.5	+	4	1331	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	345						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGATAAGTCAGACCATACCAA	0.483000									Schinzel-Giedion syndrome				13	35					0	0	0.020292	0	0
SAMD4B	55095	broad.mit.edu	37	19	39860463	39860463	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:39860463G>A	ENST00000314471.6	+	6	1400	c.365G>A	c.(364-366)aGt>aAt	p.S122N	SAMD4B_ENST00000598913.1_Missense_Mutation_p.S122N|SAMD4B_ENST00000596368.1_Missense_Mutation_p.S122N	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	122							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATCGAGGAGAGTCGCCAGCTG	0.587000													9	22					0	0	0.004482	0	0
PRDX4	10549	broad.mit.edu	37	X	23700512	23700512	+	Splice_Site	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chrX:23700512G>A	ENST00000379341.4	+	5	724		c.e5-1			NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4						cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CTGTTTTACAGAGGTCTCTTC	0.368000													16	25					0	0	0.004990	0	0
OVGP1	5016	broad.mit.edu	37	1	111957388	111957388	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:111957388T>C	ENST00000369732.3	-	11	1790	c.1735A>G	c.(1735-1737)Aga>Gga	p.R579G		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	579					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GATATGTTTCTGGAGGGGACA	0.522000													34	61					0	0	0.005524	0	0
NCAPD2	9918	broad.mit.edu	37	12	6639016	6639016	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:6639016G>C	ENST00000315579.5	+	29	4528	c.3729G>C	c.(3727-3729)atG>atC	p.M1243I	NCAPD2_ENST00000545962.1_Missense_Mutation_p.M1198I	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1243					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						TCCGTAAGATGCTTGACAATT	0.532000													392	84					0	0	0.014410	0	0
TPO	7173	broad.mit.edu	37	2	1460007	1460007	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:1460007G>C	ENST00000345913.4	+	7	863	c.772G>C	c.(772-774)Gac>Cac	p.D258H	TPO_ENST00000382198.1_Missense_Mutation_p.D258H|TPO_ENST00000382201.3_Missense_Mutation_p.D258H|TPO_ENST00000346956.3_Missense_Mutation_p.D258H|TPO_ENST00000337415.3_Missense_Mutation_p.D258H|TPO_ENST00000329066.4_Missense_Mutation_p.D258H|TPO_ENST00000349624.3_Missense_Mutation_p.D258H|TPO_ENST00000497517.2_Intron	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	258					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GGGAGGGGCTGACTGCCAGAT	0.463000													9	40					0	0	0.010729	0	0
PRDM8	56978	broad.mit.edu	37	4	81123227	81123227	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:81123227G>A	ENST00000339711.4	+	10	1842	c.611G>A	c.(610-612)gGc>gAc	p.G204D	PRDM8_ENST00000415738.2_Missense_Mutation_p.G204D|PRDM8_ENST00000504452.1_Missense_Mutation_p.G204D	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	204	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gaccacgggggcggcggcggc	0.652000											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	53					0	0	0.021523	0	0
PTPRD	5789	broad.mit.edu	37	9	8525016	8525016	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:8525016C>G	ENST00000381196.4	-	15	1131	c.588G>C	c.(586-588)caG>caC	p.Q196H	PTPRD_ENST00000537002.1_Missense_Mutation_p.Q193H|PTPRD_ENST00000540109.1_Missense_Mutation_p.Q196H|PTPRD_ENST00000360074.4_Missense_Mutation_p.Q187H|PTPRD_ENST00000358503.5_Missense_Mutation_p.Q187H|PTPRD_ENST00000486161.1_Missense_Mutation_p.Q196H|PTPRD_ENST00000356435.5_Missense_Mutation_p.Q196H|PTPRD_ENST00000355233.5_Missense_Mutation_p.Q196H|PTPRD_ENST00000397606.3_Missense_Mutation_p.Q190H|PTPRD_ENST00000397611.3_Missense_Mutation_p.Q193H|PTPRD_ENST00000397617.3_Missense_Mutation_p.Q190H	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	196	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ACTCTTCACTCTGCTCAATCT	0.433000										TSP Lung(15;0.13)			41	115					0	0	0.013114	0	0
SIK2	23235	broad.mit.edu	37	11	111571713	111571713	+	Silent	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:111571713A>G	ENST00000304987.3	+	5	755	c.582A>G	c.(580-582)gaA>gaG	p.E194E		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	194	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AGCAGTATGAAGGACCACAGC	0.468000													8	27					0	0	0.004482	0	0
PSTK	118672	broad.mit.edu	37	10	124742535	124742535	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:124742535G>A	ENST00000405485.1	+	2	569	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	PSTK_ENST00000368887.3_Missense_Mutation_p.R168Q|PSTK_ENST00000497219.1_3'UTR			Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase	168							ATP binding|kinase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CAGCTGGCTCGGAAATGTAAT	0.313000													58	61					0	0	0.014410	0	0
KCNQ3	3786	broad.mit.edu	37	8	133153390	133153390	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:133153390C>A	ENST00000388996.4	-	10	1871	c.1451G>T	c.(1450-1452)tGg>tTg	p.W484L	KCNQ3_ENST00000519445.1_Missense_Mutation_p.W484L|KCNQ3_ENST00000521134.1_Missense_Mutation_p.W364L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	484					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			AGAACTCTGCCAGAAAGCGTA	0.493000													36	81					1.69901e-12	1.93161e-12	0.005524	1	0
MGAM	8972	broad.mit.edu	37	7	141797392	141797392	+	Splice_Site	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:141797392G>C	ENST00000475668.2	+	66	7746		c.e66-1		MGAM_ENST00000549489.2_Splice_Site			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTCATTTTAGAATGCCAGAA	0.398000													16	36					0	0	0.008871	0	0
KDM3A	55818	broad.mit.edu	37	2	86716520	86716520	+	Silent	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:86716520C>G	ENST00000409556.1	+	23	3758	c.3393C>G	c.(3391-3393)gtC>gtG	p.V1131V	KDM3A_ENST00000542128.1_Silent_p.V1079V|KDM3A_ENST00000409064.1_Silent_p.V1131V|KDM3A_ENST00000312912.5_Silent_p.V1131V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1131	JmjC.				androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						ATGTCATGGTCTATGTGGGAA	0.428000													20	43					0	0	0.008871	0	0
TOP1MT	116447	broad.mit.edu	37	8	144406249	144406249	+	Missense_Mutation	SNP	G	G	A	rs144092447		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:144406249G>A	ENST00000523676.1	-	8	991	c.586C>T	c.(586-588)Cgc>Tgc	p.R196C	TOP1MT_ENST00000521193.1_Missense_Mutation_p.R196C|TOP1MT_ENST00000519148.1_Missense_Mutation_p.R196C|TOP1MT_ENST00000329245.4_Missense_Mutation_p.R294C			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	294					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	TACTGGGAGCGGATCTCGTCC	0.527000													4	206					0	0	0.009096	0	0
USH2A	7399	broad.mit.edu	37	1	215940058	215940058	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:215940058G>A	ENST00000366943.2	-	56	11398	c.11012C>T	c.(11011-11013)cCt>cTt	p.P3671L	USH2A_ENST00000307340.3_Missense_Mutation_p.P3671L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3671	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACCTAGAAAAGGCTCGCTTGA	0.438000										HNSCC(13;0.011)			168	23					0	0	0.014410	0	0
C1orf94	84970	broad.mit.edu	37	1	34666533	34666533	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:34666533C>T	ENST00000488417.1	+	3	1290	c.1170C>T	c.(1168-1170)gcC>gcT	p.A390A	C1orf94_ENST00000373374.3_Silent_p.A200A	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	200							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CATGTCCAGCCGAGAAGAACT	0.592000													13	27					0	0	0.016723	0	0
RPTOR	57521	broad.mit.edu	37	17	78858859	78858859	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:78858859G>C	ENST00000306801.3	+	17	2256	c.1894G>C	c.(1894-1896)Gag>Cag	p.E632Q	RPTOR_ENST00000544334.2_Intron|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	632					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CAACTCTGCAGAGAGGACGGA	0.672000													4	13					0	0	0.014758	0	0
ZNF594	84622	broad.mit.edu	37	17	5085147	5085147	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:5085147C>G	ENST00000399604.4	-	1	2545	c.2405G>C	c.(2404-2406)aGa>aCa	p.R802T	ZNF594_ENST00000575779.1_Missense_Mutation_p.R802T			Q96JF6	ZN594_HUMAN	zinc finger protein 594	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTCAGAAGGTCTGAGCTCTGA	0.403000													40	114					0	0	0.010771	0	0
GPR25	2848	broad.mit.edu	37	1	200843070	200843070	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:200843070C>G	ENST00000304244.2	+	1	988	c.905C>G	c.(904-906)gCc>gGc	p.A302G		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	302						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						AACAGCTGCGCCAACCCGCTC	0.731000													9	88					0	0	0.006214	0	0
CPNE2	221184	broad.mit.edu	37	16	57149418	57149418	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:57149418C>T	ENST00000535318.2	+	5	752	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	CPNE2_ENST00000537605.1_Silent_p.L29L|CPNE2_ENST00000565874.1_Silent_p.L131L|CPNE2_ENST00000290776.8_Silent_p.L131L			Q96FN4	CPNE2_HUMAN	copine II	131										central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CACTAGGCCTCTGCTGCTGCT	0.622000													14	46					0	0	0.003163	0	0
ATG16L1	55054	broad.mit.edu	37	2	234202923	234202923	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:234202923C>T	ENST00000392017.4	+	18	2008	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	ATG16L1_ENST00000347464.5_Missense_Mutation_p.A421V|ATG16L1_ENST00000392018.1_Missense_Mutation_p.A601V|ATG16L1_ENST00000392020.4_Missense_Mutation_p.A565V|ATG16L1_ENST00000373525.5_Missense_Mutation_p.A405V	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	584					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		AATGCGGTGGCGTGGTCGCCC	0.537000													14	25					0	0	0.004007	0	0
TRAPPC9	83696	broad.mit.edu	37	8	140744287	140744287	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:140744287C>T	ENST00000389328.4	-	22	3522	c.3508G>A	c.(3508-3510)Gtg>Atg	p.V1170M	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V1063M|TRAPPC9_ENST00000522504.1_5'UTR|TRAPPC9_ENST00000438773.2_Missense_Mutation_p.V1072M	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	1072					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TAGTTGTGCACGCCGTTCTGG	0.682000													3	16					0	0	0.004672	0	0
UPF2	26019	broad.mit.edu	37	10	11994141	11994141	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:11994141C>A	ENST00000356352.2	-	14	3431	c.2958G>T	c.(2956-2958)aaG>aaT	p.K986N	UPF2_ENST00000397053.2_Missense_Mutation_p.K986N|UPF2_ENST00000357604.5_Missense_Mutation_p.K986N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	986	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				AGAGTTTGATCTTTGGTCTTA	0.368000													87	82					8.84886e-50	1.05633e-49	0.014410	1	0
EPPK1	83481	broad.mit.edu	37	8	144947143	144947143	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:144947143G>A	ENST00000525985.1	-	2	350	c.279C>T	c.(277-279)ctC>ctT	p.L93L				P58107	EPIPL_HUMAN	epiplakin 1	93						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGACACAGGGAGCAGCTGGC	0.701000													5	24					0	0	0.014758	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37451602	37451602	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:37451602C>G	ENST00000374660.1	+	16	1857	c.1758C>G	c.(1756-1758)ttC>ttG	p.F586L	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F586L|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.F586L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	642						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.F586L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCTGCCTTCGAGGTATTTA	0.328000													47	65					0	0	0.014410	0	0
PKD1L1	168507	broad.mit.edu	37	7	47924243	47924243	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:47924243T>C	ENST00000289672.2	-	19	3268	c.3218A>G	c.(3217-3219)tAt>tGt	p.Y1073C		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1073	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTCACTGTAATAGGCTTCAAA	0.448000													9	29					0	0	0.006214	0	0
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													4	226					0	0	0.001984	0	0
MTTP	4547	broad.mit.edu	37	4	100534196	100534196	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:100534196T>C	ENST00000457717.1	+	16	2372	c.2116T>C	c.(2116-2118)Ttt>Ctt	p.F706L	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000511045.1_Missense_Mutation_p.F733L|MTTP_ENST00000265517.5_Missense_Mutation_p.F706L	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	706					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ACCTGTCACCTTTTTCAACGG	0.478000													3	120					0	0	0.004672	0	0
IFT80	57560	broad.mit.edu	37	3	159997002	159997002	+	Silent	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:159997002C>G	ENST00000326448.7	-	16	2247	c.1815G>C	c.(1813-1815)gtG>gtC	p.V605V	RP11-432B6.3_ENST00000483754.1_Silent_p.V776V|IFT80_ENST00000483465.1_Silent_p.V468V|IFT80_ENST00000496589.1_Silent_p.V468V	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80 homolog (Chlamydomonas)	605						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GACAAAGTCTCACAGCATCTT	0.343000													13	117					0	0	0.003163	0	0
REG1P	5969	broad.mit.edu	37	2	79364299	79364299	+	RNA	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:79364299G>T	ENST00000444841.1	-	0	285																											GAGAGTGGCAGCTTCCCCTCC	0.493000													16	13					6.72482e-11	7.55554e-11	0.003163	1	0
FAM13A	10144	broad.mit.edu	37	4	89744151	89744151	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:89744151G>C	ENST00000395002.2	-	1	361	c.5C>G	c.(4-6)gCt>gGt	p.A2G	FAM13A_ENST00000502459.1_Intron|FAM13A_ENST00000503556.1_Missense_Mutation_p.A2G|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000264344.5_Intron|FAM13A_ENST00000513837.1_Missense_Mutation_p.A2G|FAM13A_ENST00000508369.1_Missense_Mutation_p.A2G	NM_001015045.2|NM_001265579.1	NP_001015045.1|NP_001252508.1	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	0					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GATTTCACAAGCCATTCTCGT	0.383000													41	118					0	0	0.008740	0	0
ALMS1	7840	broad.mit.edu	37	2	73716878	73716878	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:73716878G>C	ENST00000264448.6	+	10	7900	c.7789G>C	c.(7789-7791)Gat>Cat	p.D2597H	ALMS1_ENST00000409009.1_Missense_Mutation_p.D2555H	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2597					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCCACAACTAGATAGACACCC	0.473000													13	46					0	0	0.016723	0	0
THSD7B	80731	broad.mit.edu	37	2	138414381	138414381	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:138414381C>G	ENST00000409968.1	+	23	4299	c.4121C>G	c.(4120-4122)aCa>aGa	p.T1374R	THSD7B_ENST00000413152.2_Missense_Mutation_p.T1346R|THSD7B_ENST00000272643.3_Missense_Mutation_p.T1377R|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGCCATTTAACAGAATGGTCA	0.473000													5	32					0	0	0.014758	0	0
NR2C1	7181	broad.mit.edu	37	12	95451597	95451597	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:95451597G>A	ENST00000333003.5	-	6	932	c.602C>T	c.(601-603)gCc>gTc	p.A201V	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.A201V|NR2C1_ENST00000330677.7_Missense_Mutation_p.A201V	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	201					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGTTGAAGCGGCACAGTTGGA	0.343000													4	147					0	0	0.014758	0	0
RIMBP2	23504	broad.mit.edu	37	12	130921646	130921646	+	Nonsense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:130921646G>C	ENST00000261655.4	-	10	1959	c.1796C>G	c.(1795-1797)tCa>tGa	p.S599*	RIMBP2_ENST00000536002.1_Nonsense_Mutation_p.S507*|RIMBP2_ENST00000535703.1_Nonsense_Mutation_p.S507*	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	599	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TAATGGCTTTGATTGGGGTGC	0.652000													4	16					0	0	0.014758	0	0
KIAA1683	80726	broad.mit.edu	37	19	18377335	18377335	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:18377335G>C	ENST00000392413.3	-	3	1230	c.1015C>G	c.(1015-1017)Cta>Gta	p.L339V	KIAA1683_ENST00000600328.2_Missense_Mutation_p.L339V|KIAA1683_ENST00000600359.2_Missense_Mutation_p.L293V	NM_001145304.1|NM_001145305.1|NM_025249.3	NP_001138776.1|NP_001138777.1|NP_079525.1	Q9H0B3	K1683_HUMAN	KIAA1683	339	Thr-rich.					mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTCTGGAGTAGAGTCTTGGTG	0.567000													13	53					0	0	0.013537	0	0
OTOGL	283310	broad.mit.edu	37	12	80660353	80660353	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:80660353G>A	ENST00000458043.2	+	20	2326	c.2320G>A	c.(2320-2322)Gaa>Aaa	p.E774K	OTOGL_ENST00000547103.1_Missense_Mutation_p.E774K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TAATTGTCCGGAAGGCAAATT	0.463000													13	45					0	0	0.016723	0	0
SGIP1	84251	broad.mit.edu	37	1	67154866	67154866	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:67154866G>C	ENST00000371037.4	+	16	1428	c.1351G>C	c.(1351-1353)Gtt>Ctt	p.V451L	SGIP1_ENST00000371035.3_Missense_Mutation_p.V241L|SGIP1_ENST00000371036.3_Missense_Mutation_p.V251L|SGIP1_ENST00000371039.1_Missense_Mutation_p.V252L|SGIP1_ENST00000237247.6_Missense_Mutation_p.V482L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	451	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						CACTCCTTTGGTTCCTTGCAG	0.532000													87	159					0	0	0.014410	0	0
LRP5	4041	broad.mit.edu	37	11	68201226	68201226	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:68201226G>A	ENST00000294304.7	+	18	4026	c.3920G>A	c.(3919-3921)cGg>cAg	p.R1307Q		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1307	LDL-receptor class A 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGCGCGCGGGGTCAGTGT	0.711000													26	27					0	0	0.007291	0	0
ZNF827	152485	broad.mit.edu	37	4	146823888	146823888	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:146823888C>T	ENST00000508784.1	-	2	750	c.523G>A	c.(523-525)Gag>Aag	p.E175K	ZNF827_ENST00000379448.4_Missense_Mutation_p.E175K|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					TCCTGCTTCTCGGCCAACTTC	0.537000													4	93					0	0	0.009096	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								3	33					0	0	0.004672	0	0
TRIM26	7726	broad.mit.edu	37	6	30166498	30166498	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:30166498C>G	ENST00000454678.2	-	4	819	c.383G>C	c.(382-384)cGg>cCg	p.R128P	TRIM26_ENST00000453195.1_Missense_Mutation_p.R128P|TRIM26_ENST00000437089.1_Missense_Mutation_p.R128P	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	128							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CCTGTGCTCCCGGGACTCCCG	0.642000													11	14					0	0	0.010729	0	0
CTNNA2	1496	broad.mit.edu	37	2	80085146	80085146	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:80085146G>A	ENST00000466387.1	+	8	1030	c.306G>A	c.(304-306)acG>acA	p.T102T	CTNNA2_ENST00000541047.1_Silent_p.T102T|CTNNA2_ENST00000496558.1_Silent_p.T102T|CTNNA2_ENST00000540488.1_Silent_p.T102T|CTNNA2_ENST00000402739.4_Silent_p.T102T|CTNNA2_ENST00000361291.4_Silent_p.T136T			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	102					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						CAGGTGAGACGATGCGGATCG	0.552000													28	87					0	0	0.009535	0	0
HIP1	3092	broad.mit.edu	37	7	75168691	75168691	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:75168691G>A	ENST00000336926.6	-	30	3039	c.3013C>T	c.(3013-3015)Cgg>Tgg	p.R1005W	HIP1_ENST00000434438.2_Missense_Mutation_p.R954W	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	1005	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTTTTTCCGAAGCTCTCCC	0.502000			T	PDGFRB	CMML								85	293					0	0	0.014410	0	0
ANK2	287	broad.mit.edu	37	4	114275313	114275313	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:114275313C>A	ENST00000357077.4	+	38	5592	c.5539C>A	c.(5539-5541)Cca>Aca	p.P1847T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.P1814T|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1814	Repeat-rich region.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCCAGTATCACCATCAAGTAA	0.473000													56	179					2.5401e-28	2.9948e-28	0.014410	1	0
POM121	9883	broad.mit.edu	37	7	72413639	72413639	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:72413639C>T	ENST00000395270.1	+	14	3353	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	POM121_ENST00000358357.3_Missense_Mutation_p.S771L|POM121_ENST00000434423.2_Missense_Mutation_p.S1036L|POM121_ENST00000446813.1_Missense_Mutation_p.S771L|POM121_ENST00000257622.4_Missense_Mutation_p.S771L	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1036	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GCCACGCACTCGGCGTTTGGG	0.652000													10	63					0	0	0.020292	0	0
VPS26B	112936	broad.mit.edu	37	11	134095034	134095034	+	Silent	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:134095034C>T	ENST00000281187.5	+	1	496	c.18C>T	c.(16-18)ttC>ttT	p.F6F	VPS26B_ENST00000525095.2_Silent_p.F6F	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	6					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TCTTCGGCTTCGGGCAGAGCG	0.627000													5	10					0	0	0.001984	0	0
AKAP9	10142	broad.mit.edu	37	7	91695764	91695764	+	Silent	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:91695764T>C	ENST00000359028.2	+	27	6495	c.6270T>C	c.(6268-6270)caT>caC	p.H2090H	AKAP9_ENST00000356239.3_Silent_p.H2078H|AKAP9_ENST00000358100.2_Silent_p.H2090H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2090	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACAGAGAACATGAGAGAGATG	0.358000			T	BRAF	papillary thyroid								15	58					0	0	0.004990	0	0
USH2A	7399	broad.mit.edu	37	1	215824103	215824103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:215824103C>T	ENST00000366943.2	-	65	14560	c.14174G>A	c.(14173-14175)tGg>tAg	p.W4725*	USH2A_ENST00000307340.3_Nonsense_Mutation_p.W4725*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4725	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCACCATGTCCAGCTACTGGG	0.522000										HNSCC(13;0.011)			62	263					0	0	0.014410	0	0
COL5A3	50509	broad.mit.edu	37	19	10107155	10107155	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:10107155A>T	ENST00000264828.3	-	13	1461	c.1376T>A	c.(1375-1377)gTc>gAc	p.V459D	CTD-2553C6.1_ENST00000592332.1_RNA	NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	459	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CTGGAATGAGACTGGGGGGCC	0.597000													13	41					0	0	0.004007	0	0
DOCK3	1795	broad.mit.edu	37	3	51317591	51317591	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:51317591T>C	ENST00000266037.9	+	27	2901	c.2878T>C	c.(2878-2880)Ttc>Ctc	p.F960L		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	960						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)		TGACACCCATTTCCAGCACCT	0.532000													10	17					0	0	0.008291	0	0
C20orf194	25943	broad.mit.edu	37	20	3311319	3311319	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr20:3311319G>T	ENST00000252032.9	-	12	1141	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	C20orf194_ENST00000453730.2_Missense_Mutation_p.S97R	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	358										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						TGGGCAGCTTGCTGTCACCAC	0.388000													7	17					0.00307968	0.00324983	0.003080	1	0
DDX56	54606	broad.mit.edu	37	7	44610375	44610375	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:44610375C>T	ENST00000258772.5	-	7	1098	c.992G>A	c.(991-993)cGa>cAa	p.R331Q	DDX56_ENST00000431640.1_Intron|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	331	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						TTTGGGCCCTCGGCCCCGACG	0.527000													32	75					0	0	0.013726	0	0
GPR26	2849	broad.mit.edu	37	10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:125426287G>A	ENST00000284674.1	+	1	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	122					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701000													3	6					0	0	0.009096	0	0
STEAP4	79689	broad.mit.edu	37	7	87908865	87908865	+	Missense_Mutation	SNP	A	A	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:87908865A>T	ENST00000380079.4	-	5	1329	c.1228T>A	c.(1228-1230)Tca>Aca	p.S410T	AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Missense_Mutation_p.S234T	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	410					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGAGATTTGAAGGGCTGAGG	0.448000													22	32					0	0	0.010504	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432608	104432608	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:104432608C>T	ENST00000361820.3	-	3	2686	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	696					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	CTCTTCCATTCATACAGAGTG	0.488000													29	77					0	0	0.012213	0	0
GRIN3A	116443	broad.mit.edu	37	9	104375732	104375732	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:104375732C>A	ENST00000361820.3	-	6	3292	c.2692G>T	c.(2692-2694)Ggg>Tgg	p.G898W	GRIN3A_ENST00000479772.1_5'UTR	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	898					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TCCATAAACCCATGTGACTTG	0.463000													22	8					2.27525e-19	2.66609e-19	0.021523	1	0
FHL5	9457	broad.mit.edu	37	6	97063544	97063544	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:97063544A>G	ENST00000326771.2	+	7	1131	c.751A>G	c.(751-753)Aac>Gac	p.N251D	FHL5_ENST00000541107.1_Missense_Mutation_p.N251D	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	251	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CGAATGCTTTAACTGCGGGAA	0.448000													8	53					0	0	0.004990	0	0
CPNE2	221184	broad.mit.edu	37	16	57153158	57153158	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr16:57153158G>A	ENST00000535318.2	+	7	920	c.559G>A	c.(559-561)Gat>Aat	p.D187N	CPNE2_ENST00000537605.1_Missense_Mutation_p.D85N|CPNE2_ENST00000565874.1_Missense_Mutation_p.D187N|CPNE2_ENST00000290776.8_Missense_Mutation_p.D187N			Q96FN4	CPNE2_HUMAN	copine II	187	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				GCCAGGAGACGATGGCAAGTG	0.587000													30	90					0	0	0.009535	0	0
SLC15A2	6565	broad.mit.edu	37	3	121646672	121646672	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:121646672G>C	ENST00000489711.1	+	14	1580	c.1192G>C	c.(1192-1194)Gag>Cag	p.E398Q	SLC15A2_ENST00000295605.2_Missense_Mutation_p.E367Q	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	398					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GGCAGCTGTAGAGATAAAAAT	0.388000													15	43					0	0	0.004990	0	0
UPF2	26019	broad.mit.edu	37	10	11994167	11994167	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:11994167C>T	ENST00000356352.2	-	14	3405	c.2932G>A	c.(2932-2934)Gat>Aat	p.D978N	UPF2_ENST00000397053.2_Missense_Mutation_p.D978N|UPF2_ENST00000357604.5_Missense_Mutation_p.D978N			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	978	MIF4G 3.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				TCTAGTGTATCACTGATCATG	0.353000													76	66					0	0	0.014410	0	0
LRP1B	53353	broad.mit.edu	37	2	141032089	141032089	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:141032089G>A	ENST00000389484.3	-	85	14017	c.13046C>T	c.(13045-13047)aCg>aTg	p.T4349M		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4349	EGF-like 13.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATAGCGCGTTGGACAGAC	0.423000										TSP Lung(27;0.18)			17	32					0	0	0.004007	0	0
TBCK	93627	broad.mit.edu	37	4	107156504	107156504	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr4:107156504G>T	ENST00000273980.4	-	16	1818	c.1371C>A	c.(1369-1371)aaC>aaA	p.N457K	TBCK_ENST00000394706.3_Missense_Mutation_p.N418K|TBCK_ENST00000361687.4_Missense_Mutation_p.N394K|TBCK_ENST00000394708.2_Missense_Mutation_p.N457K|TBCK_ENST00000432496.2_Missense_Mutation_p.N457K			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase	457						intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						TCCAGATTTGGTTTTTTTTAT	0.363000													10	28					6.40141e-05	6.90774e-05	0.010729	1	0
ATP10A	57194	broad.mit.edu	37	15	25966813	25966813	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:25966813C>G	ENST00000356865.6	-	7	1465	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	452					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CCATTTGCATCATGAGAATAT	0.468000													17	69					0	0	0.006122	0	0
CHRD	8646	broad.mit.edu	37	3	184102418	184102418	+	Missense_Mutation	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:184102418G>T	ENST00000204604.1	+	13	1780	c.1534G>T	c.(1534-1536)Gac>Tac	p.D512Y	CHRD_ENST00000545352.1_Missense_Mutation_p.D142Y|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.D512Y|CHRD_ENST00000348986.3_Missense_Mutation_p.D472Y	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	512	CHRD 3.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGACTTCCCAGACGGAGAGCT	0.637000													23	90					1.50039e-11	1.69571e-11	0.012319	1	0
SMEK1	55671	broad.mit.edu	37	14	91948149	91948149	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:91948149G>A	ENST00000554684.1	-	4	1182	c.686C>T	c.(685-687)gCt>gTt	p.A229V	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Missense_Mutation_p.A229V|SMEK1_ENST00000337238.4_Missense_Mutation_p.A229V			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	229						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TTGTGATAAAGCAGGATCATA	0.348000													19	38					0	0	0.014323	0	0
PRAME	23532	broad.mit.edu	37	22	22892735	22892735	+	Silent	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr22:22892735C>G	ENST00000543184.1	-	4	1228	c.366G>C	c.(364-366)ctG>ctC	p.L122L	PRAME_ENST00000405655.3_Silent_p.L122L|PRAME_ENST00000424204.2_Silent_p.L106L|PRAME_ENST00000398741.1_Silent_p.L122L|PRAME_ENST00000398743.2_Silent_p.L122L|PRAME_ENST00000485532.1_5'UTR|PRAME_ENST00000402697.1_Silent_p.L122L|PRAME_ENST00000539862.1_Silent_p.L106L	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	122					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TCCGTAAATCCAGCACTTGAA	0.448000													8	47					0	0	0.010729	0	0
OC90	729330	broad.mit.edu	37	8	133048660	133048660	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:133048660C>A	ENST00000262283.5	-	13	1372	c.1273G>T	c.(1273-1275)Gca>Tca	p.A425S	OC90_ENST00000443356.2_Missense_Mutation_p.A229S|OC90_ENST00000603859.1_Intron|OC90_ENST00000254627.3_Intron			Q02509	OC90_HUMAN	otoconin 90	229	Phospholipase A2-like 3.				lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity	p.A425S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCAGTCTCTGCAGCCACTGTG	0.463000													16	100					0.000566183	0.000607534	0.004990	1	0
STAT2	6773	broad.mit.edu	37	12	56743976	56743976	+	Splice_Site	SNP	T	T	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:56743976T>A	ENST00000314128.4	-	13	1139		c.e13-2		STAT2_ENST00000418572.2_Splice_Site|STAT2_ENST00000557235.1_Splice_Site			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa						interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						TTCCGGAAGCTGTTCCAGGAG	0.423000													29	83					0	0	0.006320	0	0
NBEA	26960	broad.mit.edu	37	13	35685031	35685031	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:35685031G>C	ENST00000400445.3	+	13	2452	c.1918G>C	c.(1918-1920)Gta>Cta	p.V640L	NBEA_ENST00000379939.2_Missense_Mutation_p.V640L|NBEA_ENST00000310336.4_Missense_Mutation_p.V640L|NBEA_ENST00000540320.1_Missense_Mutation_p.V640L	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	640						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		AGTAGGAACAGTATTACAGCT	0.373000													19	43					0	0	0.007413	0	0
FHL3	2275	broad.mit.edu	37	1	38463526	38463526	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:38463526C>G	ENST00000373016.3	-	5	686	c.518G>C	c.(517-519)gGa>gCa	p.G173A	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	173	LIM zinc-binding 3.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GTATGTCACTCCACCCTGTGT	0.607000													9	31					0	0	0.006214	0	0
OR3A2	4995	broad.mit.edu	37	17	3181289	3181289	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr17:3181289A>C	ENST00000408891.2	-	1	979	c.941T>G	c.(940-942)tTt>tGt	p.F314C		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	314					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CCTCCCCAAAAATATTTGCCA	0.463000													8	48					0	0	0.006214	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987574	154987574	+	Silent	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:154987574A>C	ENST00000368426.3	+	3	575	c.438A>C	c.(436-438)ctA>ctC	p.L146L	ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Silent_p.L146L|ZBTB7B_ENST00000417934.2_Silent_p.L180L|ZBTB7B_ENST00000292176.2_Silent_p.L146L	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	146					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCAGTGGGCTAGAAGCTCCCA	0.627000													53	28					0	0	0.014410	0	0
TECTB	6975	broad.mit.edu	37	10	114044408	114044408	+	Silent	SNP	C	C	T	rs146576556		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:114044408C>T	ENST00000369422.3	+	2	192	c.192C>T	c.(190-192)caC>caT	p.H64H		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	64	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		ATGGGGTCCACGAAGGAGGTT	0.488000													25	14					0	0	0.021523	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	RNA	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269000													5	141					0	0	0.014758	0	0
TRIP10	9322	broad.mit.edu	37	19	6743214	6743214	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:6743214G>C	ENST00000600428.1	+	5	677	c.31G>C	c.(31-33)Gaa>Caa	p.E11Q	TRIP10_ENST00000313285.8_Missense_Mutation_p.E119Q|TRIP10_ENST00000313244.9_Missense_Mutation_p.E119Q|TRIP10_ENST00000596758.1_Missense_Mutation_p.E119Q			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	119	FCH.|Induction of membrane tubulation.|Required for podosome formation and interaction with AKAP9 and microtubules.|Required for translocation to the plasma membrane in response to insulin (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GCACTTCCAAGAAGGGCGGCG	0.562000													9	16					0	0	0.008291	0	0
NPR3	4883	broad.mit.edu	37	5	32789781	32789781	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:32789781C>A	ENST00000326958.1	+	1	837	c.274C>A	c.(274-276)Ccc>Acc	p.P92T	NPR3_ENST00000265074.8_3'UTR																							CCTTCTTTGCCCCAAATGCAT	0.403000													18	41					1.67942e-08	1.86493e-08	0.006122	1	0
KIFAP3	22920	broad.mit.edu	37	1	169923234	169923234	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:169923234C>T	ENST00000367765.1	-	19	3572	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	KIFAP3_ENST00000367767.1_Missense_Mutation_p.E687K|KIFAP3_ENST00000361580.2_Missense_Mutation_p.E731K|KIFAP3_ENST00000538366.1_Missense_Mutation_p.E653K|KIFAP3_ENST00000540905.1_Missense_Mutation_p.E433K	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	731					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATGGCTCCTTCAGAGGCAATT	0.358000													41	186					0	0	0.010771	0	0
PCLO	27445	broad.mit.edu	37	7	82585126	82585126	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:82585126C>G	ENST00000423517.2	-	5	5480	c.5143G>C	c.(5143-5145)Gag>Cag	p.E1715Q	PCLO_ENST00000333891.8_Missense_Mutation_p.E1715Q	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	1646					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAAGATCCCTCTCCCCTTGAC	0.463000													21	48					0	0	0.008871	0	0
CCDC114	93233	broad.mit.edu	37	19	48800482	48800482	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:48800482G>A	ENST00000315396.7	-	14	2446	c.1764C>T	c.(1762-1764)ttC>ttT	p.F588F		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	588										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TGGTGGAGCCGAAGGTCACGT	0.657000													13	18					0	0	0.013537	0	0
KMT2D	8085	broad.mit.edu	37	12	49441813	49441813	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr12:49441813C>T	ENST00000301067.7	-	14	4170	c.4171G>A	c.(4171-4173)Gag>Aag	p.E1391K		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGGTGGCCCTCTGCCCCCCGG	0.562000													31	49					0	0	0.010818	0	0
NOL8	55035	broad.mit.edu	37	9	95062242	95062242	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:95062242G>A	ENST00000545558.1	-	14	3724	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C	NOL8_ENST00000358855.4_Missense_Mutation_p.R1010C|NOL8_ENST00000542053.1_Missense_Mutation_p.R1010C|NOL8_ENST00000535387.1_Missense_Mutation_p.R1040C|NOL8_ENST00000442668.2_Missense_Mutation_p.R1078C			Q76FK4	NOL8_HUMAN	nucleolar protein 8	1078					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TCTTGTAAACGAGGGTCTTCC	0.413000													74	131					0	0	0.014410	0	0
GLT6D1	360203	broad.mit.edu	37	9	138531020	138531020	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:138531020C>G	ENST00000371763.1	-	2	267	c.14G>C	c.(13-15)aGa>aCa	p.R5T		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	5					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		TAACAGCATTCTTTTAGAATT	0.289000													13	32					0	0	0.004007	0	0
DNAAF2	55172	broad.mit.edu	37	14	50092739	50092739	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr14:50092739G>A	ENST00000298292.8	-	3	2115	c.2035C>T	c.(2035-2037)Cta>Tta	p.L679L	DNAAF2_ENST00000406043.3_Silent_p.L631L	NM_018139.2	NP_060609.2	Q9NVR5	KTU_HUMAN	dynein, axonemal, assembly factor 2	679					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TTTCCTTGTAGCTGATCAGAG	0.303000													3	8					0	0	0.009096	0	0
IKZF1	10320	broad.mit.edu	37	7	50358680	50358680	+	Missense_Mutation	SNP	A	A	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:50358680A>G	ENST00000331340.3	+	2	178	c.23A>G	c.(22-24)gAc>gGc	p.D8G	IKZF1_ENST00000359197.5_Missense_Mutation_p.D8G|IKZF1_ENST00000343574.5_Missense_Mutation_p.D8G|IKZF1_ENST00000439701.1_Missense_Mutation_p.D8G|IKZF1_ENST00000357364.4_Missense_Mutation_p.D8G|IKZF1_ENST00000438033.1_Missense_Mutation_p.D8G|IKZF1_ENST00000413698.1_Missense_Mutation_p.D8G|IKZF1_ENST00000349824.4_Missense_Mutation_p.D8G|IKZF1_ENST00000346667.4_Missense_Mutation_p.D8G|IKZF1_ENST00000492782.1_3'UTR|IKZF1_ENST00000440768.2_Missense_Mutation_p.D8G	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	8					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(41)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GAGGGTCAAGACATGTCCCAA	0.438000			"""D,T"""	BCL6	"""ALL, DLBCL"""								45	138					0	0	0.014410	0	0
SUN1	23353	broad.mit.edu	37	7	912967	912967	+	Silent	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:912967G>A	ENST00000456758.2	+	25	2924	c.2924G>A	c.(2923-2925)tGa>tAa	p.*975*	SUN1_ENST00000425407.2_Silent_p.*703*|SUN1_ENST00000405266.1_Silent_p.*823*|SUN1_ENST00000452783.2_Silent_p.*683*|SUN1_ENST00000389574.3_Silent_p.*703*|SUN1_ENST00000413514.2_Silent_p.*584*|SUN1_ENST00000401592.1_Silent_p.*786*			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1	0					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCTGTCAAGTGAAGACACTAC	0.423000											OREG0017816	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	67					0	0	0.003163	0	0
PSMC3	5702	broad.mit.edu	37	11	47444246	47444246	+	Missense_Mutation	SNP	G	G	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:47444246G>C	ENST00000298852.3	-	8	920	c.763C>G	c.(763-765)Cag>Gag	p.Q255E	PSMC3_ENST00000602866.1_Missense_Mutation_p.Q239E|PSMC3_ENST00000530912.1_Missense_Mutation_p.Q213E	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	255					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		TGCACCAGCTGGGGGCCAGCC	0.547000													29	110					0	0	0.008361	0	0
ARCN1	372	broad.mit.edu	37	11	118468432	118468432	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:118468432G>A	ENST00000359415.4	+	10	1540	c.1375G>A	c.(1375-1377)Ggc>Agc	p.G459S	ARCN1_ENST00000264028.4_Missense_Mutation_p.G418S|ARCN1_ENST00000392859.3_Missense_Mutation_p.G330S|ARCN1_ENST00000534182.2_Intron			P48444	COPD_HUMAN	archain 1	418	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GTCTGGTGTCGGCGCGCCTGT	0.493000													4	22					0	0	0.014758	0	0
TERT	7015	broad.mit.edu	37	5	1253933	1253933	+	Silent	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:1253933C>A	ENST00000310581.5	-	16	3366	c.3309G>T	c.(3307-3309)ctG>ctT	p.L1103L	TERT_ENST00000334602.6_Silent_p.L1040L|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	1103	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCTTCCGACTCAGCTGCGTCT	0.662000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				13	133					1.3612e-06	1.49419e-06	0.003163	1	0
KLHDC3	116138	broad.mit.edu	37	6	42985674	42985674	+	Missense_Mutation	SNP	A	A	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:42985674A>C	ENST00000326974.4	+	4	610	c.415A>C	c.(415-417)Atc>Ctc	p.I139L	KLHDC3_ENST00000332245.8_Missense_Mutation_p.I80L|KLHDC3_ENST00000244670.8_Intron	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	139					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CCTAGGCAAGATCATGTACAT	0.512000													27	77					0	0	0.005443	0	0
TMEM145	284339	broad.mit.edu	37	19	42827922	42827922	+	Missense_Mutation	SNP	T	T	C			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr19:42827922T>C	ENST00000301204.3	+	14	1423	c.1382T>C	c.(1381-1383)aTc>aCc	p.I461T		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	461						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				CTCTTCTCCATCCCCCCGCCC	0.706000													3	53					0	0	0.014758	0	0
FBN2	2201	broad.mit.edu	37	5	127595471	127595471	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr5:127595471C>T	ENST00000508053.1	-	71	9389	c.8415G>A	c.(8413-8415)atG>atA	p.M2805I	FBN2_ENST00000262464.4_Missense_Mutation_p.M2805I			P35556	FBN2_HUMAN	fibrillin 2	2805					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)		GGTTGAACTTCATGTTGACGG	0.517000													47	44					0	0	0.014410	0	0
PMS2	5395	broad.mit.edu	37	7	6043690	6043690	+	Splice_Site	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr7:6043690C>G	ENST00000265849.7	-	3	269		c.e3-1		PMS2_ENST00000406569.3_Splice_Site|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Splice_Site	NM_000535.5	NP_000526.1	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)						mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCTTTAGATCTAGAAAGttt	0.294000			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				33	78					0	0	0.012213	0	0
LRP1B	53353	broad.mit.edu	37	2	141116452	141116452	+	Missense_Mutation	SNP	G	G	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:141116452G>A	ENST00000389484.3	-	73	12166	c.11195C>T	c.(11194-11196)tCg>tTg	p.S3732L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3732	LDL-receptor class A 31.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATTTGCTCCGACTGTAGGCA	0.388000										TSP Lung(27;0.18)			34	42					0	0	0.013726	0	0
IFT172	26160	broad.mit.edu	37	2	27677472	27677472	+	Missense_Mutation	SNP	C	C	T	rs144121974	byFrequency	TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr2:27677472C>T	ENST00000260570.3	-	31	3530	c.3427G>A	c.(3427-3429)Gag>Aag	p.E1143K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1143					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGATGAACCTCGGGGGTTTTG	0.493000													14	43					0	0	0.004007	0	0
SLITRK3	22865	broad.mit.edu	37	3	164905937	164905937	+	Silent	SNP	G	G	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:164905937G>T	ENST00000475390.1	-	2	3125	c.2682C>A	c.(2680-2682)ccC>ccA	p.P894P	SLITRK3_ENST00000241274.3_Silent_p.P894P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	894						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCACTGTGCAGGGGGCAGGCT	0.552000										HNSCC(40;0.11)			44	59					1.7489e-18	2.02449e-18	0.011902	1	0
CSMD3	114788	broad.mit.edu	37	8	114110999	114110999	+	Missense_Mutation	SNP	C	C	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr8:114110999C>A	ENST00000297405.5	-	5	1147	c.903G>T	c.(901-903)gaG>gaT	p.E301D	CSMD3_ENST00000455883.2_Missense_Mutation_p.E301D|CSMD3_ENST00000343508.3_Missense_Mutation_p.E261D|CSMD3_ENST00000519485.1_5'UTR|CSMD3_ENST00000352409.3_Missense_Mutation_p.E301D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	301	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTAGGTGGCTCAGAACCTT	0.363000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	60					0.00909568	0.00949331	0.009096	1	0
PSIP1	11168	broad.mit.edu	37	9	15472711	15472711	+	Missense_Mutation	SNP	C	C	G			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr9:15472711C>G	ENST00000380733.4	-	10	1239	c.896G>C	c.(895-897)aGa>aCa	p.R299T	PSIP1_ENST00000380738.4_Missense_Mutation_p.R299T|PSIP1_ENST00000380715.1_Missense_Mutation_p.R299T|PSIP1_ENST00000397519.2_Missense_Mutation_p.R299T|PSIP1_ENST00000380716.4_Missense_Mutation_p.R299T			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	299					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CATATTCCTTCTGTGAGCAGT	0.373000													37	51					0	0	0.005524	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98469731	98469731	+	Missense_Mutation	SNP	C	C	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:98469731C>T	ENST00000339364.5	-	2	142	c.23G>A	c.(22-24)aGa>aAa	p.R8K		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	8						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCGCATCCTCTGGGCACCCC	0.592000													13	51					0	0	0.016723	0	0
LCE4A	199834	broad.mit.edu	37	1	152681693	152681698	+	In_Frame_Del	DEL	TGTGGT	TGTGGT	-	rs74871420		TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:152681693_152681698delTGTGGT	ENST00000368777.1	+	2	398_403	c.142_147delTGTGGT	c.(142-147)del	p.CG48del	LCE4A_ENST00000335535.3_In_Frame_Del_p.CG48del			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	48	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CTCTGGGGGCTGTGGTTGCTGCAGCT	0.578													7	203	---	---	---	---					
TMEM81	388730	broad.mit.edu	37	1	205052694	205052694	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:205052694delC	ENST00000367167.3	-	1	951	c.755delG	c.(754-756)gcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCTGCAGGCCCCCCCTTAG	0.537													7	180	---	---	---	---					
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gct>g	p.EA716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626													10	189	---	---	---	---					
SI	6476	broad.mit.edu	37	3	164733816	164733817	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr3:164733816_164733817insT	ENST00000264382.3	-	32	3873_3874	c.3811_3812insA	c.(3811-3813)tggfs	p.W1271fs		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1271	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGCTTCACCAATTGTAAAGTCT	0.366										HNSCC(35;0.089)			162	289	---	---	---	---					
NCOA7	135112	broad.mit.edu	37	6	126210254	126210258	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr6:126210254_126210258delGAGAA	ENST00000368357.3	+	10	1406_1410	c.1054_1058delGAGAA	c.(1054-1059)gfs	p.EK352fs	NCOA7_ENST00000229634.9_Frame_Shift_Del_p.EK237fs|NCOA7_ENST00000392477.2_Frame_Shift_Del_p.EK352fs	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	352					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)		AGTACCTTTGGAGAAGTCCACAGGA	0.434													41	78	---	---	---	---					
DUSP5	1847	broad.mit.edu	37	10	112266854	112266854	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr10:112266854delG	ENST00000369583.3	+	3	974	c.690delG	c.(688-690)gtfs	p.V230fs	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	230	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGATCCCTGTGGAAGACAGCC	0.542													82	102	---	---	---	---					
CWF19L2	143884	broad.mit.edu	37	11	107207441	107207442	+	Splice_Site	INS	-	-	A			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr11:107207441_107207442insA	ENST00000282251.5	-	15	2230		c.e15-2			NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)								catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCTGAACATCTAAAAAAAAAAA	0.257													2	4	---	---	---	---					
ESRRAP2	144832	broad.mit.edu	37	13	21835723	21835728	+	RNA	DEL	GGCGAG	GGCGAG	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr13:21835723_21835728delGGCGAG	ENST00000427890.1	+	0	61																											GATGGACTGAGGCGAGGGGTGGGACT	0.646													2	4	---	---	---	---					
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922																											AGTTCATCTTCTCAGAGCTGCTG	0.581													6	13	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15343746	15343749	+	RNA	DEL	TCTG	TCTG	-			TCGA-BA-6871-01A-11D-1870-08	TCGA-BA-6871-10A-01D-1870-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8a04117-0ebc-4c27-83d6-441be47e5fd3	4c569302-a5d1-4106-aec8-c3c4e815de8e	g.chr21:15343746_15343749delTCTG	ENST00000344693.5	-	0	736					NR_027270.1																						CTCTGTGCTTTCTGATGTGCTGCT	0.407													3	4	---	---	---	---					
