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
OR2G2	81470	broad.mit.edu	37	1	247752414	247752414	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:247752414C>T	ENST00000320065.1	+	1	753	c.753C>T	c.(751-753)gtC>gtT	p.V251V	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGacagtggtcaccatctttt	0.498000													39	54					0	0	1	0	0
SAP30BP	29115	broad.mit.edu	37	17	73664626	73664626	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:73664626A>G	ENST00000584667.1	+	2	394	c.137A>G	c.(136-138)tAt>tGt	p.Y46C	SAP30BP_ENST00000579864.1_3'UTR|SAP30BP_ENST00000355423.3_Missense_Mutation_p.Y46C	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	46					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCTGATGCCTATGGGGAGGAT	0.388000													12	21					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43854980	43854980	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:43854980C>A	ENST00000319294.6	+	10	1340	c.1309C>A	c.(1309-1311)Ctg>Atg	p.L437M	UBASH3A_ENST00000291535.6_Missense_Mutation_p.L399M|UBASH3A_ENST00000398367.1_Missense_Mutation_p.L399M	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	437	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CCCCTGCAGTCTGCCAAGACG	0.438000													19	43					5.35267e-07	6.22875e-07	1	1	0
FSTL4	23105	broad.mit.edu	37	5	132652223	132652223	+	Silent	SNP	G	G	A	rs148727806	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:132652223G>A	ENST00000265342.7	-	5	780	c.531C>T	c.(529-531)ctC>ctT	p.L177L		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	177	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTCCACCAGGAGGCGCTTCT	0.572000											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	34					0	0	1	0	0
COL9A3	1299	broad.mit.edu	37	20	61453160	61453160	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:61453160C>A	ENST00000343916.3	+	8	424	c.421C>A	c.(421-423)Ccg>Acg	p.P141T		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	141	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCGCGGCCCCCCGGTGAGTGG	0.682000													4	11					0.150653	0.151172	1	1	0
NELL2	4753	broad.mit.edu	37	12	45173752	45173752	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:45173752C>A	ENST00000429094.2	-	4	893	c.389G>T	c.(388-390)cGc>cTc	p.R130L	NELL2_ENST00000549027.1_Missense_Mutation_p.R129L|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.R129L|NELL2_ENST00000452445.2_Missense_Mutation_p.R130L|NELL2_ENST00000333837.4_Missense_Mutation_p.R153L|NELL2_ENST00000551601.1_Missense_Mutation_p.R129L|NELL2_ENST00000437801.2_Missense_Mutation_p.R180L	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	130	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACTGCCTGAGCGGTAATGCAG	0.468000													36	69					4.17593e-13	5.64211e-13	1	1	0
SMUG1	23583	broad.mit.edu	37	12	54576301	54576301	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:54576301C>A	ENST00000508394.2	-	3	454	c.392G>T	c.(391-393)tGc>tTc	p.C131F	SMUG1_ENST00000513838.1_Missense_Mutation_p.C131F|SMUG1_ENST00000337581.3_Missense_Mutation_p.C131F|SMUG1_ENST00000243112.5_Missense_Mutation_p.C131F|SMUG1_ENST00000506595.1_Missense_Mutation_p.C131F|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000401977.2_Missense_Mutation_p.C131F|SMUG1_ENST00000514685.1_Missense_Mutation_p.C131F|SMUG1_ENST00000505128.1_3'UTR|SMUG1_ENST00000514196.1_Missense_Mutation_p.C131F	NM_001243787.1|NM_001243788.1|NM_014311.2	NP_001230716.1|NP_001230717.1|NP_055126.1	Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	131				Missing (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						TGACTGTGGGCACTCCAGTCC	0.557000								Base excision repair (BER), DNA glycosylases					70	109					3.94896e-32	6.40402e-32	1	1	0
PCDH15	65217	broad.mit.edu	37	10	55782813	55782813	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:55782813C>A	ENST00000373965.2	-	20	2780	c.2386G>T	c.(2386-2388)Gtt>Ttt	p.V796F	PCDH15_ENST00000395433.1_Missense_Mutation_p.V767F|PCDH15_ENST00000373955.1_Missense_Mutation_p.V789F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.V789F|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.V796F|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.V789F|PCDH15_ENST00000409834.1_Missense_Mutation_p.V400F|PCDH15_ENST00000437009.1_Missense_Mutation_p.V718F|PCDH15_ENST00000320301.6_Missense_Mutation_p.V789F|PCDH15_ENST00000395430.1_Missense_Mutation_p.V789F|PCDH15_ENST00000414778.1_Missense_Mutation_p.V794F|PCDH15_ENST00000395432.2_Missense_Mutation_p.V752F|PCDH15_ENST00000373957.3_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	789	Cadherin 7.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTTGCCACAACAACAAGTTCA	0.413000										HNSCC(58;0.16)			27	25					9.39395e-14	1.29319e-13	1	1	0
RRM2	6241	broad.mit.edu	37	2	10263924	10263924	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:10263924T>C	ENST00000360566.2	+	4	851	c.560T>C	c.(559-561)aTa>aCa	p.I187T	RRM2_ENST00000304567.5_Missense_Mutation_p.I127T	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	127					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		AGATATTTTATATCCCATGTT	0.423000													47	50					0	0	1	0	0
RPGRIP1	57096	broad.mit.edu	37	14	21794285	21794285	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:21794285G>T	ENST00000206660.6	+	16	2663	c.2663G>T	c.(2662-2664)cGa>cTa	p.R888L	RPGRIP1_ENST00000307974.4_Missense_Mutation_p.R247L|RPGRIP1_ENST00000382933.4_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.R888L|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.R850L			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	888	C2.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TATCTTGGCCGAGCCCGAGTG	0.488000													12	7					0.00010058	0.00010869	1	1	0
CELSR1	9620	broad.mit.edu	37	22	46760129	46760129	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:46760129G>A	ENST00000262738.3	-	34	8798	c.8799C>T	c.(8797-8799)gtC>gtT	p.V2933V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2933					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCGGGTAGGTGACTTTATTTT	0.657000													32	99					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38906629	38906629	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:38906629A>G	ENST00000359357.3	+	77	11475	c.11221A>G	c.(11221-11223)Aca>Gca	p.T3741A	DNAH8_ENST00000441566.1_Missense_Mutation_p.T3705A|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.T3958A					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGAGTACCTGACATATGAAGT	0.363000													16	9					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18503407	18503407	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:18503407C>G	ENST00000536719.1	-	9	987	c.853G>C	c.(853-855)Gat>Cat	p.D285H	TSG101_ENST00000357193.3_Missense_Mutation_p.D180H|TSG101_ENST00000251968.3_Missense_Mutation_p.D285H			Q99816	TS101_HUMAN	tumor susceptibility 101	285					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						ATGTTTTTATCAACCTCGGCC	0.358000													4	28					0	0	1	0	0
ATP4A	495	broad.mit.edu	37	19	36047953	36047953	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:36047953C>A	ENST00000262623.3	-	12	1759	c.1731G>T	c.(1729-1731)ccG>ccT	p.P577P		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	577					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CATAGCCAGGCGGGTAGTCCT	0.592000													10	103					2.27111e-07	2.67486e-07	1	1	0
CD38	952	broad.mit.edu	37	4	15839729	15839729	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:15839729C>A	ENST00000226279.2	+	5	737	c.600C>A	c.(598-600)gcC>gcA	p.A200A		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	200					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						CAGAAGCTGCCTGTGATGTGG	0.383000													13	15					0.000422831	0.000449018	1	1	0
PCDHB4	56131	broad.mit.edu	37	5	140503075	140503075	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140503075C>A	ENST00000194152.1	+	1	1495	c.1495C>A	c.(1495-1497)Ctc>Atc	p.L499I		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		499	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACCTGCCCCTCGCCTCCCT	0.687000													96	110					3.69866e-55	6.24116e-55	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33581298	33581298	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:33581298G>C	ENST00000321505.4	+	6	3148	c.2968G>C	c.(2968-2970)Gtg>Ctg	p.V990L	KIAA1549L_ENST00000389726.3_Missense_Mutation_p.V996L|KIAA1549L_ENST00000265654.5_Missense_Mutation_p.V996L					KIAA1549-like																		GATTCAGATTGTGAGCACGTC	0.572000													22	20					0	0	1	0	0
KIRREL	55243	broad.mit.edu	37	1	158063156	158063156	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:158063156G>C	ENST00000368172.1	+	8	953	c.941G>C	c.(940-942)gGg>gCg	p.G314A	KIRREL_ENST00000359209.6_Missense_Mutation_p.G500A|KIRREL_ENST00000360089.4_Missense_Mutation_p.G336A|KIRREL_ENST00000368173.3_Missense_Mutation_p.G516A|KIRREL_ENST00000392272.2_Missense_Mutation_p.G397A|KIRREL_ENST00000416935.2_Missense_Mutation_p.G400A			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	500	Ig-like C2-type 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					ATCATAGCTGGGGCCACCATC	0.562000													73	63					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60419726	60419726	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:60419726C>A	ENST00000360469.5	+	5	667	c.579C>A	c.(577-579)atC>atA	p.I193I	CDH4_ENST00000543233.1_Silent_p.I119I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	193	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCTTTCAGATCCGGTCCGACA	0.587000													20	31					0.000132079	0.000142596	1	1	0
MUC16	94025	broad.mit.edu	37	19	9024163	9024163	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:9024163C>G	ENST00000397910.4	-	18	37312	c.37109G>C	c.(37108-37110)gGg>gCg	p.G12370A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12372					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGATGGAGTCCCTGAGGTTCT	0.473000													9	3					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110505897	110505897	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:110505897G>A	ENST00000378402.5	+	63	10348	c.10244G>A	c.(10243-10245)aGa>aAa	p.R3415K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3415					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGATAAATAGAGGGACCAAT	0.348000										HNSCC(38;0.096)			4	13					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000													8	56					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874181	48874181	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:48874181G>T	ENST00000394754.1	+	8	3204	c.3090_splice	c.e8+1	p.K1030_splice	STON1-GTF2A1L_ENST00000402114.2_Splice_Site_p.K1030_splice|LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000430487.2_Splice_Site_p.K292_splice|STON1-GTF2A1L_ENST00000309827.2_Splice_Site_p.K1030_splice|STON1-GTF2A1L_ENST00000405008.1_Splice_Site_p.K1030_splice|GTF2A1L_ENST00000403751.3_Splice_Site_p.K326_splice|STON1-GTF2A1L_ENST00000394751.3_Splice_Site_p.K983_splice	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		983					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TATCAGAGAAGGTATAGTTCT	0.358000													4	9					0.00024832	0.000264905	1	1	0
GGCX	2677	broad.mit.edu	37	2	85785588	85785588	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:85785588T>G	ENST00000233838.3	-	4	594	c.514A>C	c.(514-516)Aca>Cca	p.T172P	GGCX_ENST00000430215.3_Missense_Mutation_p.T115P	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	172					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	TCCATGAATGTTAGCTGAAAG	0.502000													13	52					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508353	14508353	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:14508353C>T	ENST00000344204.4	+	57	9140	c.9116C>T	c.(9115-9117)cCc>cTc	p.P3039L	TRIO_ENST00000344135.5_Missense_Mutation_p.P538L|TRIO_ENST00000537187.1_Missense_Mutation_p.P2863L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	3039	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCAAGCGTCCCTCGGCTGCG	0.612000													33	71					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	185962392	185962392	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:185962392C>A	ENST00000271588.4	+	23	3685	c.3456C>A	c.(3454-3456)gcC>gcA	p.A1152A	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Silent_p.A1152A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1152	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTGTGTTGCCACAAATATTG	0.418000													4	15					0.150653	0.151172	1	1	0
TIMD4	91937	broad.mit.edu	37	5	156346537	156346537	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:156346537T>A	ENST00000274532.2	-	9	1124	c.1068A>T	c.(1066-1068)ggA>ggT	p.G356G	TIMD4_ENST00000407087.3_Silent_p.G328G|TIMD4_ENST00000406964.1_Silent_p.G58G	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	356						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTTTACTATCTCCAATGTAGT	0.423000													15	19					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026732	37026732	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:37026732C>A	ENST00000358047.3	+	1	301	c.249C>A	c.(247-249)ctC>ctA	p.L83L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	83										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAATATCTCTCAGAGGTCCCC	0.542000													51	15					1.56989e-16	2.28242e-16	1	1	0
APOB	338	broad.mit.edu	37	2	21226197	21226197	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:21226197C>A	ENST00000233242.1	-	29	12224	c.12097G>T	c.(12097-12099)Gat>Tat	p.D4033Y		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	4033					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGTTTTTTATCTGGAGAGGAC	0.338000													80	121					1.04643e-32	1.70172e-32	1	1	0
CD96	10225	broad.mit.edu	37	3	111356108	111356108	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:111356108G>T	ENST00000352690.4	+	11	1627	c.1387_splice	c.e11+1	p.D463_splice	CD96_ENST00000283285.5_Splice_Site_p.D479_splice	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	479	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AACACTTCATGGTGAGTACTT	0.428000									Opitz Trigonocephaly syndrome				9	14					0.0692343	0.0698332	1	1	0
PCDHB12	56124	broad.mit.edu	37	5	140589914	140589914	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140589914G>T	ENST00000239450.2	+	1	1624	c.1435G>T	c.(1435-1437)Gac>Tac	p.D479Y	PCDHB12_ENST00000541609.1_Missense_Mutation_p.D142Y	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		479	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D479N(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CACAGACAGAGACTCGGGCAC	0.657000													58	149					3.40343e-31	5.47365e-31	1	1	0
EFNB1	1947	broad.mit.edu	37	X	68060341	68060341	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:68060341G>C	ENST00000204961.4	+	5	1665	c.885G>C	c.(883-885)gcG>gcC	p.A295A		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	295					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						GTGGCACAGCGGGCACCGAGC	0.622000													12	12					0	0	1	0	0
FAM53B	9679	broad.mit.edu	37	10	126312150	126312150	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:126312150G>C	ENST00000337318.3	-	5	1141	c.930C>G	c.(928-930)ctC>ctG	p.L310L	RP11-12J10.3_ENST00000494792.1_Intron|FAM53B_ENST00000392754.3_Silent_p.L310L	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	310										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		TCAGGCAGCTGAGGCTGCTGA	0.652000													19	1					0	0	1	0	0
PITPNB	23760	broad.mit.edu	37	22	28269790	28269790	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:28269790T>A	ENST00000335272.5	-	8	546	c.470A>T	c.(469-471)gAt>gTt	p.D157V	PITPNB_ENST00000320996.10_Missense_Mutation_p.D157V|PITPNB_ENST00000455418.3_Missense_Mutation_p.D159V	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	157					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						TGGGTCTTCATCAGCTTTGTA	0.468000													13	13					0	0	1	0	0
UBBP4	23666	broad.mit.edu	37	17	21731206	21731206	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:21731206G>T	ENST00000584755.1	+	2	905	c.508G>T	c.(508-510)Gag>Tag	p.E170*	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000578713.1_Intron																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						CCTGGAAGTGGAGCCCAGTGA	0.542000													29	25					5.8336e-16	8.42872e-16	1	1	0
VGLL3	389136	broad.mit.edu	37	3	87017812	87017812	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:87017812A>T	ENST00000398399.2	-	3	1228	c.865T>A	c.(865-867)Tct>Act	p.S289T	VGLL3_ENST00000383698.3_Missense_Mutation_p.S289T	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GAGGTAGCAGAGGTGACTGTA	0.522000													14	33					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55912943	55912943	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:55912943G>A	ENST00000373965.2	-	15	2116	c.1722C>T	c.(1720-1722)atC>atT	p.I574I	PCDH15_ENST00000395433.1_Silent_p.I545I|PCDH15_ENST00000373955.1_Silent_p.I567I|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Silent_p.I567I|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Silent_p.I574I|PCDH15_ENST00000395446.1_Silent_p.I567I|PCDH15_ENST00000361849.3_Silent_p.I567I|PCDH15_ENST00000409834.1_Silent_p.I178I|PCDH15_ENST00000437009.1_Silent_p.I567I|PCDH15_ENST00000320301.6_Silent_p.I567I|PCDH15_ENST00000395430.1_Silent_p.I567I|PCDH15_ENST00000414778.1_Silent_p.I572I|PCDH15_ENST00000395432.2_Silent_p.I530I|PCDH15_ENST00000373957.3_Silent_p.I545I	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	567	Cadherin 5.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCCTGGAGCGATGGTGATAA	0.493000										HNSCC(58;0.16)			29	22					0	0	1	0	0
LDLRAD4	753	broad.mit.edu	37	18	13645128	13645128	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:13645128C>A	ENST00000361205.4	+	7	1061	c.393C>A	c.(391-393)atC>atA	p.I131I	LDLRAD4_ENST00000587757.1_Silent_p.I94I|LDLRAD4_ENST00000585931.1_Silent_p.I54I|LDLRAD4_ENST00000586765.1_Silent_p.I76I|LDLRAD4_ENST00000399848.3_Silent_p.I113I|RP11-701H16.4_ENST00000588397.1_RNA|LDLRAD4_ENST00000592991.1_Silent_p.I33I|LDLRAD4_ENST00000359446.5_Silent_p.I131I	NM_001276249.1|NM_181481.3	NP_001263178.1|NP_852146.1			low density lipoprotein receptor class A domain containing 4																		CCTTCCAGATCATGCATGCCC	0.537000													47	7					6.03219e-31	9.68806e-31	1	1	0
ZC3H7A	29066	broad.mit.edu	37	16	11857450	11857450	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:11857450T>A	ENST00000396516.2	-	15	2083	c.1886A>T	c.(1885-1887)cAg>cTg	p.Q629L	ZC3H7A_ENST00000355758.4_Missense_Mutation_p.Q629L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	629						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAGCTGACACTGACCATGAAA	0.383000													52	32					0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65209590	65209590	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:65209590C>A	ENST00000380230.3	+	3	173	c.144C>A	c.(142-144)ggC>ggA	p.G48G	ANKDD1A_ENST00000491145.1_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000395720.1_Silent_p.G48G|ANKDD1A_ENST00000357698.3_Silent_p.G48G|ANKDD1A_ENST00000319580.8_Intron|ANKDD1A_ENST00000496660.1_Intron	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	48					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GGCAGGTGGGCAGGGTGGCCC	0.682000													4	15					0.150653	0.151172	1	1	0
CDH11	1009	broad.mit.edu	37	16	65026902	65026902	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:65026902C>T	ENST00000394156.3	-	5	1012	c.559G>A	c.(559-561)Gat>Aat	p.D187N	CDH11_ENST00000268603.4_Missense_Mutation_p.D187N|CDH11_ENST00000566827.1_Missense_Mutation_p.D61N			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	187	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GTGGGGTCATCTGCATCTGAA	0.398000			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			14	4					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15841519	15841519	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:15841519G>T	ENST00000338282.6	-	19	2425	c.2319C>A	c.(2317-2319)ggC>ggA	p.G773G	MYH11_ENST00000452625.2_Silent_p.G780G|MYH11_ENST00000300036.5_Silent_p.G773G|MYH11_ENST00000576790.1_Silent_p.G773G|MYH11_ENST00000396324.3_Silent_p.G780G	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	773	Actin-binding (By similarity).|Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.G780G(1)|p.G773G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGGCCAGGACGCCAGTTCGGA	0.502000			T	CBFB	AML								25	25					4.7796e-09	5.91615e-09	1	1	0
PARP12	64761	broad.mit.edu	37	7	139737570	139737570	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:139737570C>A	ENST00000263549.3	-	7	2142	c.1269G>T	c.(1267-1269)caG>caT	p.Q423H	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	423	WWE 2.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AGGTGGCTGCCTGGCCGTCAG	0.602000													36	9					1.90571e-15	2.72645e-15	1	1	0
RCHY1	25898	broad.mit.edu	37	4	76417106	76417106	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:76417106C>A	ENST00000324439.5	-	5	841	c.443G>T	c.(442-444)tGt>tTt	p.C148F	RCHY1_ENST00000512706.1_Missense_Mutation_p.C126F|RCHY1_ENST00000451788.1_Missense_Mutation_p.C148F|RCHY1_ENST00000513257.1_Missense_Mutation_p.C148F|RCHY1_ENST00000380840.2_Missense_Mutation_p.C108F	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	148					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TACCTCCAAACATATTGGACA	0.289000													8	21					0.000442599	0.000469155	1	1	0
ATXN1	6310	broad.mit.edu	37	6	16328532	16328532	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:16328532T>A	ENST00000244769.4	-	8	946	c.10A>T	c.(10-12)Aac>Tac	p.N4Y	ATXN1_ENST00000436367.1_Missense_Mutation_p.N4Y	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	4					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				CGCTCTTGGTTGGATTTCATT	0.552000													33	28					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77595509	77595509	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:77595509C>T	ENST00000461745.1	+	7	1855	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	ROBO2_ENST00000332191.8_Missense_Mutation_p.R319W|ROBO2_ENST00000487694.3_Missense_Mutation_p.R335W	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	319	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)		GTTTGTGGTTCGGCCAAGAGA	0.393000													52	17					0	0	1	0	0
OAS3	4940	broad.mit.edu	37	12	113385901	113385901	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:113385901G>C	ENST00000228928.7	+	5	1205	c.1026G>C	c.(1024-1026)ggG>ggC	p.G342G	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	342	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTTGGAAGGGGCCGGTAAGTG	0.567000													6	13					0	0	1	0	0
IL13RA2	3598	broad.mit.edu	37	X	114242542	114242542	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:114242542G>A	ENST00000371936.1	-	9	1199	c.950C>T	c.(949-951)tCa>tTa	p.S317L	IL13RA2_ENST00000243213.1_Missense_Mutation_p.S317L			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2	317	Fibronectin type-III 3.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TCCGTCATCTGAGCAATAAAT	0.358000													27	11					0	0	1	0	0
TRIM39	56658	broad.mit.edu	37	6	30298598	30298598	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:30298598T>C	ENST00000376659.5	+	4	1092	c.494T>C	c.(493-495)cTg>cCg	p.L165P	TRIM39_ENST00000396547.1_Missense_Mutation_p.L165P|TRIM39_ENST00000540416.1_Missense_Mutation_p.L165P|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.L77P|TRIM39_ENST00000396551.3_Missense_Mutation_p.L165P|TRIM39_ENST00000376656.4_Missense_Mutation_p.L165P|TRIM39_ENST00000396548.1_Missense_Mutation_p.L165P	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						GAACAGAAGCTGCAGGAGATC	0.532000													4	23					0	0	1	0	0
NOV	4856	broad.mit.edu	37	8	120435207	120435207	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:120435207C>A	ENST00000259526.3	+	5	1136	c.909C>A	c.(907-909)ccC>ccA	p.P303P	RP11-775B15.2_ENST00000519786.1_RNA	NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	303	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCTGCACTCCCCACAATACCA	0.552000													48	56					2.56175e-15	3.63824e-15	1	1	0
CCNJL	79616	broad.mit.edu	37	5	159680412	159680412	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:159680412C>A	ENST00000393977.3	-	7	1566	c.1281G>T	c.(1279-1281)atG>atT	p.M427I	CCNJL_ENST00000257536.7_Missense_Mutation_p.M379I|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	427						nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGTGGGGAACATGTGGCTCC	0.587000													15	21					6.72482e-11	8.69306e-11	1	1	0
TMEM131	23505	broad.mit.edu	37	2	98375500	98375500	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:98375500G>A	ENST00000186436.5	-	40	5451	c.5223C>T	c.(5221-5223)ctC>ctT	p.L1741L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1741	Ser-rich.					integral to membrane		p.L1628L(1)|p.L1741L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGATAATCCGAGTTTGCTGA	0.463000													26	59					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99786619	99786619	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:99786619G>A	ENST00000426455.1	+	7	1102	c.695G>A	c.(694-696)cGt>cAt	p.R232H	STAG3_ENST00000394018.2_Missense_Mutation_p.R174H|STAG3_ENST00000317296.5_Missense_Mutation_p.R232H			Q9UJ98	STAG3_HUMAN	stromal antigen 3	232					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGCGCCTTCCGTCACACTAGC	0.512000													6	83					0	0	1	0	0
MAP7	9053	broad.mit.edu	37	6	136686924	136686924	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:136686924C>G	ENST00000354570.3	-	10	1632	c.1222G>C	c.(1222-1224)Gaa>Caa	p.E408Q	MAP7_ENST00000432797.2_Missense_Mutation_p.E262Q|MAP7_ENST00000454590.1_Missense_Mutation_p.E430Q|MAP7_ENST00000438100.2_Missense_Mutation_p.E393Q|MAP7_ENST00000544465.1_Missense_Mutation_p.E393Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	408	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		GTGGCTTCTTCTACCTTCACT	0.512000													16	45					0	0	1	0	0
PCDHA7	56141	broad.mit.edu	37	5	140215443	140215443	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140215443A>T	ENST00000525929.1	+	1	1475	c.1475A>T	c.(1474-1476)tAc>tTc	p.Y492F	PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.Y492F	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGTCCTACTCGCTGGTG	0.662000													84	101					0	0	1	0	0
KLHL34	257240	broad.mit.edu	37	X	21675157	21675157	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:21675157G>T	ENST00000379499.2	-	1	1291	c.750C>A	c.(748-750)ggC>ggA	p.G250G		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	250										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GGATGATGAGGCCCTTGACCC	0.682000													14	11					9.31168e-06	1.03799e-05	1	1	0
LIPE	3991	broad.mit.edu	37	19	42930938	42930938	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:42930938C>T	ENST00000244289.4	-	1	640	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	122					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GTTATAGATTCTTTTCCTAGC	0.557000													15	259					0	0	1	0	0
MAP3K9	4293	broad.mit.edu	37	14	71209291	71209291	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:71209291C>A	ENST00000554752.2	-	6	1343	c.1344G>T	c.(1342-1344)gaG>gaT	p.E448D	MAP3K9_ENST00000554146.1_Missense_Mutation_p.E185D|MAP3K9_ENST00000553414.1_Missense_Mutation_p.E142D|MAP3K9_ENST00000381250.4_Missense_Mutation_p.E448D|MAP3K9_ENST00000555993.2_Missense_Mutation_p.E448D			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	448	Leucine-zipper 1.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TCAGCTCCTCCTCCCAGGTGC	0.632000													16	7					2.31682e-05	2.56788e-05	1	1	0
ZPLD1	131368	broad.mit.edu	37	3	102171840	102171840	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:102171840G>A	ENST00000306176.1	+	3	332	c.232G>A	c.(232-234)Ggt>Agt	p.G78S	ZPLD1_ENST00000491959.1_Missense_Mutation_p.G62S|ZPLD1_ENST00000466937.1_Missense_Mutation_p.G62S	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	62	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						ACTTTTCTCGGGTTATTCGGA	0.398000													20	38					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106956	234106956	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:234106956T>A	ENST00000359570.5	+	27	2873	c.2873T>A	c.(2872-2874)aTa>aAa	p.I958K	INPP5D_ENST00000450745.1_Missense_Mutation_p.I722K|INPP5D_ENST00000455936.2_Missense_Mutation_p.I722K			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	970	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CAGCCGCCCATATCACCCAAG	0.627000													27	61					0	0	1	0	0
OR2T11	127077	broad.mit.edu	37	1	248790153	248790153	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:248790153C>A	ENST00000330803.2	-	1	338	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGCCACAGGCCACAAAGGAA	0.502000													30	20					7.38237e-10	9.31585e-10	1	1	0
VNN2	8875	broad.mit.edu	37	6	133070911	133070911	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:133070911T>A	ENST00000326499.6	-	6	1418	c.1294A>T	c.(1294-1296)Agt>Tgt	p.S432C	VNN2_ENST00000525270.1_Missense_Mutation_p.S379C|VNN2_ENST00000525289.1_Missense_Mutation_p.S211C	NM_004665.2	NP_004656.2	O95498	VNN2_HUMAN	vanin 2	432					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		AATGTGCCACTGAGGGAGAAC	0.403000													6	13					0	0	1	0	0
TCERG1L	256536	broad.mit.edu	37	10	133058554	133058554	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:133058554A>G	ENST00000368642.4	-	4	909	c.824T>C	c.(823-825)aTc>aCc	p.I275T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	275										cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGGTATTTTGATGGGTGCCAA	0.697000													23	4					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154919935	154919935	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:154919935G>A	ENST00000368463.3	-	9	899	c.828C>T	c.(826-828)gcC>gcT	p.A276A	PBXIP1_ENST00000368460.3_Silent_p.A245A|PBXIP1_ENST00000542459.1_Silent_p.A121A|PBXIP1_ENST00000498553.1_5'UTR|PBXIP1_ENST00000539880.1_Silent_p.A103A|PBXIP1_ENST00000368465.1_Silent_p.A247A	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	276					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTTCTCCTTGGCCAGCTTGT	0.642000													65	53					0	0	1	0	0
PIGO	84720	broad.mit.edu	37	9	35092125	35092125	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:35092125G>A	ENST00000378617.3	-	7	2153	c.1759C>T	c.(1759-1761)Cag>Tag	p.Q587*	PIGO_ENST00000341666.3_Nonsense_Mutation_p.Q587*|PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	587					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGTGAAGCTGGACAACCAGG	0.557000													4	25					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166960577	166960577	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:166960577A>G	ENST00000061240.2	+	10	1892	c.1245A>G	c.(1243-1245)agA>agG	p.R415R	TLL1_ENST00000507499.1_Silent_p.R415R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	415	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGTACTGGAGAAAATCACCTC	0.388000													4	7					0	0	1	0	0
KAZN	23254	broad.mit.edu	37	1	15382690	15382690	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:15382690A>T	ENST00000376030.2	+	5	1124	c.830A>T	c.(829-831)cAg>cTg	p.Q277L	KAZN_ENST00000400797.3_Missense_Mutation_p.Q183L|KAZN_ENST00000422387.2_Missense_Mutation_p.Q277L|KAZN_ENST00000361144.5_Missense_Mutation_p.Q271L|KAZN_ENST00000503743.1_Missense_Mutation_p.Q277L|KAZN_ENST00000400798.2_Missense_Mutation_p.Q183L	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	277	Interaction with PPL.				keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TGGGTGGTGCAGGCGGACCTC	0.642000													34	54					0	0	1	0	0
CNTN2	6900	broad.mit.edu	37	1	205031691	205031691	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:205031691G>A	ENST00000331830.4	+	10	1518	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	412					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CGAGCTAGCCGTGCAAGGTAA	0.567000													29	31					0	0	1	0	0
AMZ1	155185	broad.mit.edu	37	7	2748864	2748864	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:2748864G>A	ENST00000312371.4	+	5	1125	c.757G>A	c.(757-759)Gtt>Att	p.V253I	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Intron	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	253							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CCTGGGGATGGTTCAGTGCTG	0.677000													5	14					0	0	1	0	0
RP11-344E13.3	0	broad.mit.edu	37	17	20805831	20805831	+	RNA	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:20805831G>C	ENST00000577537.1	+	0	1015				RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000439794.2_RNA																							AAACTTCCGGGCTTGCAGATT	0.502000													34	20					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918919	154918919	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:154918919C>A	ENST00000368463.3	-	10	1302	c.1231G>T	c.(1231-1233)Gat>Tat	p.D411Y	PBXIP1_ENST00000542459.1_Missense_Mutation_p.D256Y|PBXIP1_ENST00000539880.1_Missense_Mutation_p.D238Y|PBXIP1_ENST00000368465.1_Missense_Mutation_p.D382Y	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	411					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCTCCAGATCCTGCTGTACA	0.607000													177	155					1.03651e-72	1.7592e-72	1	1	0
GPATCH8	23131	broad.mit.edu	37	17	42476210	42476210	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:42476210C>T	ENST00000434000.1	-	9	3283	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	GPATCH8_ENST00000591680.1_Missense_Mutation_p.D1079N			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1079	Ser-rich.					intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GGACTGCAGTCACCTTCTGAC	0.502000													17	33					0	0	1	0	0
KIAA1524	57650	broad.mit.edu	37	3	108270064	108270064	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:108270064T>G	ENST00000295746.8	-	21	2726	c.2650A>C	c.(2650-2652)Atg>Ctg	p.M884L	KIAA1524_ENST00000491772.1_Missense_Mutation_p.M725L	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	884						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTGCTATCATGTGGGAGTGT	0.378000													14	15					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42866672	42866672	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:42866672C>T	ENST00000334370.4	+	33	6415	c.5780C>T	c.(5779-5781)gCt>gTt	p.A1927V	MEGF8_ENST00000251268.6_Missense_Mutation_p.A1994V	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1994	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TGCTCCGAGGCTGCGTGCGGG	0.622000													87	320					0	0	1	0	0
CCDC66	285331	broad.mit.edu	37	3	56605328	56605328	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:56605328A>T	ENST00000394672.3	+	7	1004	c.934A>T	c.(934-936)Agg>Tgg	p.R312W	CCDC66_ENST00000436465.2_Missense_Mutation_p.R312W|CCDC66_ENST00000326595.7_Missense_Mutation_p.R278W	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	312										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TGACCAATCTAGGGTAAGACA	0.234000													17	6					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94059612	94059612	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:94059612A>G	ENST00000297268.6	+	52	4479	c.4008A>G	c.(4006-4008)ccA>ccG	p.P1336P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1336	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CAAATAAGCCATCACGCCTGC	0.383000										HNSCC(75;0.22)			43	63					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124267704	124267704	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:124267704C>G	ENST00000395571.3	-	3	1100	c.483G>C	c.(481-483)gaG>gaC	p.E161D	ZHX1_ENST00000297857.2_Missense_Mutation_p.E161D|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.E161D	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	161					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTCTGCATTCTCCTCTTTAA	0.313000													28	32					0	0	1	0	0
PRR23B	389151	broad.mit.edu	37	3	138739018	138739018	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:138739018C>A	ENST00000329447.5	-	1	750	c.486G>T	c.(484-486)gaG>gaT	p.E162D	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	162										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTCCGGGAACTCGGGGTCCG	0.657000													12	60					5.50884e-06	6.17032e-06	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79029781	79029781	+	Silent	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:79029781T>C	ENST00000446378.2	+	2	5224	c.5193T>C	c.(5191-5193)tcT>tcC	p.S1731S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1731						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CACCTGCCTCTGTAGCTGAAG	0.428000													6	11					0	0	1	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70585273	70585273	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:70585273C>T	ENST00000260126.3	-	10	3084	c.2378G>A	c.(2377-2379)aGa>aAa	p.R793K	SLCO5A1_ENST00000524945.1_3'UTR|SLCO5A1_ENST00000530307.1_Missense_Mutation_p.R738K	NM_030958.2	NP_112220.2	Q9H2Y9	SO5A1_HUMAN	solute carrier organic anion transporter family, member 5A1	793						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGGCAAGATCTAGTCCGGGC	0.572000													37	43					0	0	1	0	0
PHF14	9678	broad.mit.edu	37	7	11022676	11022676	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:11022676A>T	ENST00000403050.3	+	3	1242	c.790A>T	c.(790-792)Agt>Tgt	p.S264C	PHF14_ENST00000445996.2_Intron	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	264							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TAGCCCTGCCAGTGAAGGGGG	0.458000													13	6					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1459889	1459889	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:1459889G>T	ENST00000345913.4	+	7	745	c.654G>T	c.(652-654)gaG>gaT	p.E218D	TPO_ENST00000497517.2_Intron|TPO_ENST00000329066.4_Missense_Mutation_p.E218D|TPO_ENST00000346956.3_Missense_Mutation_p.E218D|TPO_ENST00000349624.3_Missense_Mutation_p.E218D|TPO_ENST00000382198.1_Missense_Mutation_p.E218D|TPO_ENST00000382201.3_Missense_Mutation_p.E218D|TPO_ENST00000337415.3_Missense_Mutation_p.E218D	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	218					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)	TTTCAAATGAGGTTGTCACAG	0.512000													13	19					7.93312e-07	9.17661e-07	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33581296	33581296	+	Splice_Site	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:33581296T>A	ENST00000321505.4	+	6	3146	c.2964_splice	c.e6-1	p.I989_splice	KIAA1549L_ENST00000389726.3_Splice_Site_p.I995_splice|KIAA1549L_ENST00000265654.5_Splice_Site_p.I995_splice					KIAA1549-like																		TTGATTCAGATTGTGAGCACG	0.572000													22	21					0	0	1	0	0
C9	735	broad.mit.edu	37	5	39331858	39331858	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:39331858C>T	ENST00000263408.4	-	5	630	c.535G>A	c.(535-537)Gga>Aga	p.G179R	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	179	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTACAGAGTCCATTGTAGAAC	0.438000													18	61					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141986918	141986918	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:141986918G>T	ENST00000389484.3	-	6	1655	c.684C>A	c.(682-684)agC>agA	p.S228R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	228					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)		CATTGACTGAGCTTAGAGTTG	0.294000										TSP Lung(27;0.18)			9	6					0.00621372	0.00637781	1	1	0
SYNPO2L	79933	broad.mit.edu	37	10	75406790	75406790	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:75406790T>C	ENST00000394810.2	-	4	2769	c.2620A>G	c.(2620-2622)Atc>Gtc	p.I874V	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.I650V|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	874	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					CCTGAGGCGATAGGGCCAGGA	0.572000													72	48					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126373554	126373554	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:126373554G>A	ENST00000394329.3	+	9	11396	c.11383G>A	c.(11383-11385)Gga>Aga	p.G3795R	FAT4_ENST00000335110.5_Missense_Mutation_p.G2093R	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3795					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G3795R(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCGGCAGAGTGGAGTAAAGGT	0.478000													8	15					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87362372	87362372	+	Silent	SNP	C	C	T	rs3750688		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:87362372C>T	ENST00000327946.7	-	16	2773	c.2688G>A	c.(2686-2688)gcG>gcA	p.A896A	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.A467A	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	896						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCTCAATCGACGCTGGGGAAA	0.597000										Multiple Myeloma(13;0.14)			13	2					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118574344	118574344	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:118574344C>G	ENST00000336338.5	-	25	3645	c.3580G>C	c.(3580-3582)Gaa>Caa	p.E1194Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1194						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GGGTGTTCTTCTTCTTTAAGG	0.373000													19	23					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798659	55798659	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:55798659C>A	ENST00000313555.1	+	1	765	c.765C>A	c.(763-765)ctC>ctA	p.L255L		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATGGAGCGCTCCTGTTTATGT	0.438000													19	29					5.35267e-07	6.22875e-07	1	1	0
COL9A3	1299	broad.mit.edu	37	20	61455825	61455825	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:61455825C>A	ENST00000343916.3	+	11	551	c.548C>A	c.(547-549)cCa>cAa	p.P183Q		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	183	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CCAGGTCCCCCAGGGCCCCCT	0.662000													3	7					0.00909568	0.00930313	1	1	0
FLNC	2318	broad.mit.edu	37	7	128493821	128493821	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:128493821C>T	ENST00000325888.8	+	39	6675	c.6414C>T	c.(6412-6414)atC>atT	p.I2138I	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.I2105I	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2138					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGAGAGCATCACCCGGCGGA	0.637000													33	7					0	0	1	0	0
NXPE3	91775	broad.mit.edu	37	3	101540689	101540689	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:101540689G>T	ENST00000422132.1	+	5	1768	c.1571G>T	c.(1570-1572)tGg>tTg	p.W524L	NXPE3_ENST00000491511.1_Missense_Mutation_p.W524L|NXPE3_ENST00000477909.1_Missense_Mutation_p.W524L|NXPE3_ENST00000273347.5_Missense_Mutation_p.W524L					neurexophilin and PC-esterase domain family, member 3																		GTCGATGCCTGGGAGATGACC	0.512000													50	68					3.86236e-30	6.18614e-30	1	1	0
IRGC	56269	broad.mit.edu	37	19	44223855	44223855	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:44223855A>T	ENST00000244314.5	+	2	1344	c.1145A>T	c.(1144-1146)tAc>tTc	p.Y382F		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	382						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GGCGCTGTCTACACCATGCTC	0.667000													19	80					0	0	1	0	0
SLC10A1	6554	broad.mit.edu	37	14	70245175	70245175	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:70245175G>C	ENST00000216540.4	-	4	951	c.818C>G	c.(817-819)gCc>gGc	p.A273G		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	273					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)		AGGTGGAAAGGCCACATTGAG	0.493000													30	10					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129247649	129247649	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:129247649G>C	ENST00000296271.3	+	1	167	c.73G>C	c.(73-75)Gag>Cag	p.E25Q		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	25					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CAGCCCCTTCGAGTACCCACA	0.587000													47	44					0	0	1	0	0
SCYL1	57410	broad.mit.edu	37	11	65300213	65300213	+	Silent	SNP	C	C	T	rs1784222		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:65300213C>T	ENST00000524944.1	+	9	1200	c.1167C>T	c.(1165-1167)atC>atT	p.I389I	SCYL1_ENST00000279270.6_Silent_p.I389I|SCYL1_ENST00000525364.1_Silent_p.I389I|SCYL1_ENST00000533862.1_Silent_p.I389I|SCYL1_ENST00000270176.5_Silent_p.I389I|SCYL1_ENST00000527630.1_Silent_p.I389I|SCYL1_ENST00000527009.1_Silent_p.I246I|SCYL1_ENST00000420247.2_Silent_p.I389I			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	389					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						ACACCCAGATCTTCCCCCACG	0.592000													11	88					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74691631	74691631	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:74691631C>G	ENST00000233616.4	-	2	733	c.571G>C	c.(571-573)Gag>Cag	p.E191Q	MOGS_ENST00000409065.1_Missense_Mutation_p.E191Q|MOGS_ENST00000462443.1_Intron|MOGS_ENST00000452063.2_Missense_Mutation_p.E85Q|MOGS_ENST00000535045.1_Intron	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	191					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						ACCTGAGGCTCTACAGTCACT	0.612000													32	44					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711081	41711081	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:41711081C>A	ENST00000400454.1	-	7	1949	c.1472G>T	c.(1471-1473)gGa>gTa	p.G491V		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	491	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CAGGACGACTCCCGCCGAGTT	0.517000													30	13					3.00307e-07	3.52981e-07	1	1	0
ZNF780A	284323	broad.mit.edu	37	19	40580817	40580817	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:40580817C>G	ENST00000450241.2	-	6	1741	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	ZNF780A_ENST00000455521.1_Missense_Mutation_p.R512T|ZNF780A_ENST00000594395.1_Missense_Mutation_p.R512T|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.R511T|ZNF780A_ENST00000340963.5_Missense_Mutation_p.R511T			O75290	Z780A_HUMAN	zinc finger protein 780A	511					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R477I(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TAGGTAAAGTCTAAAAGCCTT	0.423000													7	113					0	0	1	0	0
POLR3GL	84265	broad.mit.edu	37	1	145459707	145459707	+	Silent	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:145459707T>C	ENST00000369314.1	-	3	307	c.201A>G	c.(199-201)ctA>ctG	p.L67L	POLR3GL_ENST00000369313.3_Silent_p.L67L	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	67										endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGCTCCTCGTAGCTCTTGCT	0.572000													54	43					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713535	222713535	+	Missense_Mutation	SNP	G	G	T	rs144328016		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:222713535G>T	ENST00000343410.6	-	4	1325	c.1267C>A	c.(1267-1269)Cgt>Agt	p.R423S		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	423					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ACAGCACAACGCCACATGTTC	0.602000													37	56					3.62531e-18	5.37117e-18	1	1	0
GPR135	64582	broad.mit.edu	37	14	59931127	59931127	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:59931127A>G	ENST00000395116.1	-	1	933	c.818T>C	c.(817-819)cTg>cCg	p.L273P		NM_022571.5	NP_072093.2	Q8IZ08	GP135_HUMAN	G protein-coupled receptor 135	273						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.134)		GGCCGCGCCCAGCTGCGCGGG	0.701000													13	2					0	0	1	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291432	141291432	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:141291432C>A	ENST00000247452.3	-	3	689	c.342G>T	c.(340-342)gaG>gaT	p.E114D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	114	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGACTCCTCACTGAATG	0.547000										HNSCC(46;0.14)			31	7					5.45727e-16	7.89476e-16	1	1	0
PCDHGA3	56112	broad.mit.edu	37	5	140724046	140724046	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140724046G>C	ENST00000253812.6	+	1	446	c.446G>C	c.(445-447)gGa>gCa	p.G149A	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGGTTCCTGGAACCCGATTT	0.373000													15	42					0	0	1	0	0
MROH7	374977	broad.mit.edu	37	1	55119308	55119308	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:55119308C>T	ENST00000414150.2	+	3	987	c.709C>T	c.(709-711)Cat>Tat	p.H237Y	MROH7_ENST00000454855.2_Intron|MROH7_ENST00000395690.2_Missense_Mutation_p.H237Y|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000472987.1_3'UTR|MROH7_ENST00000421030.2_Missense_Mutation_p.H237Y|MROH7_ENST00000339553.5_Missense_Mutation_p.H237Y|MROH7_ENST00000545244.1_Intron					maestro heat-like repeat family member 7																		TCCAGATTCTCATGGGACCCT	0.463000													19	45					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70355182	70355182	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:70355182G>A	ENST00000305107.6	-	3	1023	c.977C>T	c.(976-978)tCa>tTa	p.S326L	UGT2B4_ENST00000381096.3_Missense_Mutation_p.S190L|UGT2B4_ENST00000512583.1_Missense_Mutation_p.S326L|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	326					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GGCAAGGGCTGATGCAATTAC	0.403000													24	55					0	0	1	0	0
RDH14	57665	broad.mit.edu	37	2	18736576	18736576	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:18736576C>T	ENST00000381249.3	-	2	999	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	RDH14_ENST00000468071.1_5'UTR	NM_020905.3	NP_065956.1			retinol dehydrogenase 14 (all-trans/9-cis/11-cis)											breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)					CTTCCTGACACTCCTTCTACC	0.428000													34	49					0	0	1	0	0
WNT16	51384	broad.mit.edu	37	7	120969399	120969399	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:120969399C>A	ENST00000222462.2	+	1	343	c.53C>A	c.(52-54)gCc>gAc	p.A18D	WNT16_ENST00000361301.2_Intron	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	18					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CTGTGGGCAGCCCTGCTCGTG	0.662000													20	8					2.39187e-15	3.40528e-15	1	1	0
C1orf74	148304	broad.mit.edu	37	1	209956701	209956701	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:209956701C>A	ENST00000294811.1	-	2	535	c.279G>T	c.(277-279)ctG>ctT	p.L93L		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	93										endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GACTGACAATCAGGCTGTTTT	0.527000													21	26					8.10497e-08	9.68279e-08	1	1	0
PRMT10	90826	broad.mit.edu	37	4	148579000	148579000	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:148579000T>G	ENST00000322396.6	-	8	1515	c.1273A>C	c.(1273-1275)Agt>Cgt	p.S425R	PRMT10_ENST00000541232.1_Missense_Mutation_p.S312R|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	425						cytoplasm	binding|protein methyltransferase activity	p.S423fs*20(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TCACTAGGACTTGTGGATAAA	0.403000													11	8					0	0	1	0	0
CTNNA2	1496	broad.mit.edu	37	2	79971613	79971613	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:79971613C>T	ENST00000466387.1	+	7	927	c.203C>T	c.(202-204)aCt>aTt	p.T68I	CTNNA2_ENST00000402739.4_Missense_Mutation_p.T68I|CTNNA2_ENST00000496558.1_Missense_Mutation_p.T68I|CTNNA2_ENST00000541047.1_Missense_Mutation_p.T68I|CTNNA2_ENST00000361291.4_Missense_Mutation_p.T102I|CTNNA2_ENST00000540488.1_Missense_Mutation_p.T68I			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	68					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						GAGCAAGCCACTCAGAATTTC	0.473000													9	16					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46725314	46725314	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:46725314G>T	ENST00000454366.1	+	11	2198	c.1986G>T	c.(1984-1986)caG>caT	p.Q662H		NM_016426.6	NP_057510.4	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	643					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTGCAAGCCAGCCCCTCATTG	0.512000													43	119					1.06522e-23	1.66271e-23	1	1	0
PCDH18	54510	broad.mit.edu	37	4	138449791	138449791	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:138449791C>A	ENST00000344876.4	-	3	2967	c.2581G>T	c.(2581-2583)Gcc>Tcc	p.A861S	PCDH18_ENST00000507846.1_Missense_Mutation_p.A640S|PCDH18_ENST00000412923.2_Missense_Mutation_p.A860S|PCDH18_ENST00000511115.1_Missense_Mutation_p.A41S|PCDH18_ENST00000510305.1_Missense_Mutation_p.A72S	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	861					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCTTGAAGGGCATATCTGGAA	0.368000													31	75					7.11191e-15	1.00272e-14	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32526683	32526683	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:32526683C>T	ENST00000286827.3	-	18	3524	c.3053G>A	c.(3052-3054)aGc>aAc	p.S1018N	TIAM1_ENST00000541036.1_Missense_Mutation_p.S958N	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1018				S -> N (in Ref. 1; AAA98443).	apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGGAGATGGGCTCTGGTCAGA	0.582000													35	34					0	0	1	0	0
CDC42BPG	55561	broad.mit.edu	37	11	64603992	64603992	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:64603992C>A	ENST00000342711.5	-	12	1394	c.1395G>T	c.(1393-1395)agG>agT	p.R465S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	465					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGGCCTTGTCCCTCAGCATCT	0.637000											OREG0004017	type=REGULATORY REGION|Gene=CDC42BPG|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	26	34					1.17739e-12	1.57256e-12	1	1	0
NRXN1	9378	broad.mit.edu	37	2	50724535	50724535	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:50724535C>A	ENST00000404971.1	-	15	4274	c.2935G>T	c.(2935-2937)Gat>Tat	p.D979Y	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.D931Y|NRXN1_ENST00000406316.2_Missense_Mutation_p.D939Y|NRXN1_ENST00000402717.3_Missense_Mutation_p.D931Y|NRXN1_ENST00000401669.2_Missense_Mutation_p.D939Y|NRXN1_ENST00000406859.3_Missense_Mutation_p.D939Y	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	939	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTAATCCATCTAGGGATGTT	0.373000													5	7					1.23904e-05	1.37724e-05	1	1	0
POMK	84197	broad.mit.edu	37	8	42977312	42977312	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:42977312G>T	ENST00000331373.5	+	5	600	c.345G>T	c.(343-345)atG>atT	p.M115I		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		115	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										GCCTGGAGATGAAAGATGATT	0.483000													6	32					0.0293803	0.0297891	1	1	0
CCDC70	83446	broad.mit.edu	37	13	52439962	52439962	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:52439962C>A	ENST00000242819.4	+	2	744	c.448C>A	c.(448-450)Ctt>Att	p.L150I		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	150						extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		CCGGAACCTTCTTCAGGAGGA	0.512000													27	54					1.1804e-14	1.66024e-14	1	1	0
FLAD1	80308	broad.mit.edu	37	1	154962880	154962880	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:154962880G>T	ENST00000292180.3	+	5	1752	c.1430G>T	c.(1429-1431)cGg>cTg	p.R477L	FLAD1_ENST00000368432.1_Missense_Mutation_p.R380L|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_Missense_Mutation_p.R18L|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000315144.10_Missense_Mutation_p.R380L	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	477	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	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)			CTGCAGGCACGGCACCCCCAG	0.622000													35	70					9.17885e-22	1.41194e-21	1	1	0
NCKAP5	344148	broad.mit.edu	37	2	133542730	133542730	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:133542730G>T	ENST00000409261.1	-	14	2027	c.1654C>A	c.(1654-1656)Cca>Aca	p.P552T	NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P552T|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	552							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGCACACTTGGGCACAGCTTC	0.547000													30	55					1.08312e-15	1.55532e-15	1	1	0
COL1A2	1278	broad.mit.edu	37	7	94050358	94050358	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:94050358G>C	ENST00000297268.6	+	38	2804	c.2333G>C	c.(2332-2334)gGt>gCt	p.G778A		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	778			G -> S (in OI3).|Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGAAGTCGTGGTGATGGAGGC	0.418000										HNSCC(75;0.22)			25	39					0	0	1	0	0
C1orf226	400793	broad.mit.edu	37	1	162351690	162351690	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:162351690G>C	ENST00000426197.2	+	2	201	c.128G>C	c.(127-129)gGc>gCc	p.G43A	RP11-565P22.6_ENST00000431696.1_Missense_Mutation_p.109_109insA|C1orf226_ENST00000458626.2_5'UTR	NM_001135240.1	NP_001128712.1	A1L170	CA226_HUMAN	chromosome 1 open reading frame 226	0										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12						GTTGACCACGGCATGTTTGAG	0.557000													13	19					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48673864	48673864	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:48673864C>A	ENST00000334136.5	+	15	1401	c.1223C>A	c.(1222-1224)cCc>cAc	p.P408H	HDAC6_ENST00000376619.2_Missense_Mutation_p.P408H|HDAC6_ENST00000444343.2_Missense_Mutation_p.P422H			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	408					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GACCCTTGCCCCATGCTGGAG	0.642000													17	20					3.52763e-06	3.99342e-06	1	1	0
KY	339855	broad.mit.edu	37	3	134322915	134322915	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:134322915C>T	ENST00000508956.1	-	10	1486	c.1429G>A	c.(1429-1431)Ggg>Agg	p.G477R	KY_ENST00000423778.2_Missense_Mutation_p.G498R|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	498						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CCATCATCCCCGTGGAGGGAA	0.622000													19	14					0	0	1	0	0
PLCG1	5335	broad.mit.edu	37	20	39793983	39793983	+	Silent	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:39793983C>G	ENST00000373272.2	+	14	1890	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L	PLCG1_ENST00000373271.1_Silent_p.L495L|PLCG1_ENST00000244007.3_Silent_p.L495L	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	495	PH 2; first part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				ATGGCATCCTCTACCTGGAGG	0.572000													24	24					0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1017669	1017669	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:1017669G>T	ENST00000421673.2	-	31	5182	c.5132C>A	c.(5131-5133)aCc>aAc	p.T1711N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1711	Approximate repeats.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GATGTTGGTGGTAGAAGTTGA	0.532000													23	456					7.87624e-14	1.0907e-13	1	1	0
ZNF540	163255	broad.mit.edu	37	19	38104153	38104153	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:38104153A>T	ENST00000592533.1	+	5	2304	c.1972A>T	c.(1972-1974)Aat>Tat	p.N658Y	ZNF540_ENST00000589117.1_Missense_Mutation_p.N626Y|ZNF540_ENST00000343599.5_Missense_Mutation_p.N658Y|ZNF540_ENST00000316433.4_Missense_Mutation_p.N658Y	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAAAACTCATAATGTAATTTA	0.308000													40	5					0	0	1	0	0
FDX1L	112812	broad.mit.edu	37	19	10421534	10421534	+	Translation_Start_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:10421534C>A	ENST00000494368.1	-	0	290				FDX1L_ENST00000393708.3_Missense_Mutation_p.E130D|CTD-2369P2.10_ENST00000452032.2_Missense_Mutation_p.E130D|FDX1L_ENST00000541276.1_Missense_Mutation_p.E133D|FDX1L_ENST00000492239.1_5'UTR			Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						electron transport chain|transport	mitochondrial matrix	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			CTCACCTCTCCTCGGGAGGAG	0.612000													24	2					3.28513e-13	4.44369e-13	1	1	0
SLCO1B3	28234	broad.mit.edu	37	12	21008063	21008063	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:21008063C>T	ENST00000381545.3	+	4	405	c.186C>T	c.(184-186)tcC>tcT	p.S62S	LST3_ENST00000540229.1_Silent_p.S62S|SLCO1B3_ENST00000553473.1_Silent_p.S62S|LST3_ENST00000381541.3_Silent_p.S62S|SLCO1B3_ENST00000261196.2_Silent_p.S62S|SLCO1B7_ENST00000554957.1_Silent_p.S62S|SLCO1B3_ENST00000545880.1_3'UTR	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	62					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTGACATATCCTCTTCTCTTG	0.333000													5	3					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	94120564	94120564	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:94120564T>C	ENST00000369303.4	-	3	671	c.487A>G	c.(487-489)Aga>Gga	p.R163G	EPHA7_ENST00000369297.1_Missense_Mutation_p.R163G	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	163						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTCATCTTTCTTTCACCAAGG	0.413000													10	31					0	0	1	0	0
SNX4	8723	broad.mit.edu	37	3	125172777	125172777	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:125172777T>A	ENST00000251775.4	-	12	1091	c.1067A>T	c.(1066-1068)aAg>aTg	p.K356M	SNX4_ENST00000536067.1_Missense_Mutation_p.K211M	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	356					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						AGTCATTCCCTTCAAAGAGAA	0.383000													20	23					0	0	1	0	0
EPS8L3	79574	broad.mit.edu	37	1	110302335	110302335	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:110302335C>T	ENST00000369805.3	-	4	449	c.220G>A	c.(220-222)Gac>Aac	p.D74N	EPS8L3_ENST00000361852.4_Missense_Mutation_p.D74N|EPS8L3_ENST00000361965.4_Missense_Mutation_p.D74N|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3|NM_139053.2	NP_573444.2|NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	74						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGCCAGCCGTCCCTGACCTGC	0.602000													16	36					0	0	1	0	0
SUN3	256979	broad.mit.edu	37	7	48046906	48046906	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:48046906C>A	ENST00000453192.2	-	6	555	c.312G>T	c.(310-312)ctG>ctT	p.L104L	SUN3_ENST00000412142.1_Silent_p.L16L|SUN3_ENST00000297325.4_Silent_p.L116L|SUN3_ENST00000395572.2_Silent_p.L116L			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	116						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATTGTTTTCCAGATTCTGGC	0.408000													17	10					2.23348e-06	2.55819e-06	1	1	0
TMEM14B	81853	broad.mit.edu	37	6	10755445	10755445	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:10755445A>G	ENST00000473276.1	+	3	203	c.94A>G	c.(94-96)Agg>Ggg	p.R32G	TMEM14B_ENST00000475942.1_Silent_p.V91V|TMEM14B_ENST00000379530.3_Silent_p.V57V|TMEM14B_ENST00000379542.5_Silent_p.V91V|TMEM14B_ENST00000467317.1_Silent_p.V91V|TMEM14B_ENST00000461342.1_Silent_p.V57V|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000481240.1_Silent_p.V57V			Q9NUH8	TM14B_HUMAN	transmembrane protein 14B	0						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				TCATGCCTGTAGGTTTAATTG	0.368000													11	14					0	0	1	0	0
RGS18	64407	broad.mit.edu	37	1	192150508	192150508	+	Nonsense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:192150508A>T	ENST00000367460.3	+	4	551	c.370A>T	c.(370-372)Aaa>Taa	p.K124*		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	124	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGATTTCAAGAAAAGCAAGGG	0.328000													8	16					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56329360	56329360	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:56329360C>A	ENST00000443188.1	-	4	891	c.181G>T	c.(181-183)Gag>Tag	p.E61*	NLRP11_ENST00000589093.1_Nonsense_Mutation_p.E61*|NLRP11_ENST00000360133.3_Nonsense_Mutation_p.E61*|NLRP11_ENST00000592953.1_Intron|NLRP11_ENST00000589824.2_Nonsense_Mutation_p.E61*	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	61	DAPIN.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TACTGTCCCTCATAAGAGATT	0.418000													44	8					6.5261e-18	9.65665e-18	1	1	0
TNR	7143	broad.mit.edu	37	1	175334312	175334312	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:175334312G>C	ENST00000367674.1	-	12	3129	c.2421C>G	c.(2419-2421)aaC>aaG	p.N807K	TNR_ENST00000263525.2_Missense_Mutation_p.N807K	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	807	Fibronectin type-III 6.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGGGCTGTAGTTAAGAATGA	0.532000													15	16					0	0	1	0	0
PTH2R	5746	broad.mit.edu	37	2	209358000	209358000	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:209358000G>T	ENST00000272847.2	+	13	1482	c.1269G>T	c.(1267-1269)gaG>gaT	p.E423D	PTH2R_ENST00000413482.1_3'UTR|AC019185.4_ENST00000424628.1_RNA	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	423						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TTCAGGCAGAGGTGAAGAAGA	0.532000													19	29					2.4624e-09	3.06747e-09	1	1	0
UEVLD	55293	broad.mit.edu	37	11	18554025	18554025	+	Nonstop_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:18554025C>G	ENST00000541984.1	-	7	661	c.599G>C	c.(598-600)tGa>tCa	p.*200S	UEVLD_ENST00000320750.6_Missense_Mutation_p.M356I|UEVLD_ENST00000543987.1_Missense_Mutation_p.M378I|UEVLD_ENST00000535484.1_Missense_Mutation_p.M340I|UEVLD_ENST00000396197.3_Missense_Mutation_p.D420H|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Missense_Mutation_p.D398H	NM_001261386.1	NP_001248315.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	0					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTATTTATATCATAATATCCC	0.308000													8	3					0	0	1	0	0
PCDH18	54510	broad.mit.edu	37	4	138442738	138442738	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:138442738C>A	ENST00000344876.4	-	4	3239	c.2853G>T	c.(2851-2853)ggG>ggT	p.G951G	PCDH18_ENST00000507846.1_Silent_p.G730G|PCDH18_ENST00000412923.2_Silent_p.G950G|PCDH18_ENST00000511115.1_Silent_p.G131G|PCDH18_ENST00000510305.1_Silent_p.G162G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	951	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGAATTCTTCCCCTGGAATGA	0.532000													31	36					3.1745e-13	4.30904e-13	1	1	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103459968	103459968	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:103459968G>T	ENST00000602836.1	+	1	265	c.265G>T	c.(265-267)Gga>Tga	p.G89*	BIVM_ENST00000448849.2_Intron|BIVM_ENST00000419638.1_Silent_p.S117S|BIVM_ENST00000257336.1_Silent_p.S117S	NM_001204425.1	NP_001191354.1	Q59FZ7	Q59FZ7_HUMAN		0					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CTAGTACATCGGAAATTATCT	0.413000													9	21					3.09899e-07	3.63157e-07	1	1	0
PARP14	54625	broad.mit.edu	37	3	122414429	122414429	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:122414429A>G	ENST00000474629.2	+	5	1021	c.755A>G	c.(754-756)tAt>tGt	p.Y252C		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		GAAAATCCCTATAATGGAGGG	0.378000													2	5					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874182	48874182	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:48874182G>T	ENST00000394754.1	+	8	3204		c.e8+1		STON1-GTF2A1L_ENST00000402114.2_Splice_Site|LHCGR_ENST00000420913.3_5'UTR|GTF2A1L_ENST00000430487.2_Splice_Site|STON1-GTF2A1L_ENST00000309827.2_Splice_Site|STON1-GTF2A1L_ENST00000405008.1_Splice_Site|GTF2A1L_ENST00000403751.3_Splice_Site|STON1-GTF2A1L_ENST00000394751.3_Splice_Site	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN							endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATCAGAGAAGGTATAGTTCTG	0.358000													4	9					0.00024832	0.000264905	1	1	0
GUCY1A2	2977	broad.mit.edu	37	11	106849364	106849364	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:106849364C>A	ENST00000526355.1	-	3	936	c.468G>T	c.(466-468)caG>caT	p.Q156H	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.Q156H|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.Q156H	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	156					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TAGCAGTACACTGAAGAATTC	0.368000													9	7					1.76689e-08	2.14604e-08	1	1	0
MFAP3	4238	broad.mit.edu	37	5	153433099	153433099	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:153433099G>T	ENST00000436816.1	+	3	1134	c.915G>T	c.(913-915)ctG>ctT	p.L305L	MFAP3_ENST00000322602.5_Silent_p.L305L|MFAP3_ENST00000439768.2_Silent_p.L159L	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	305						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		ATGGCTCTCTGAATGAACAAG	0.458000													38	31					6.70999e-13	8.99292e-13	1	1	0
TRPV4	59341	broad.mit.edu	37	12	110236612	110236612	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:110236612C>T	ENST00000418703.2	-	5	1053	c.959G>A	c.(958-960)cGa>cAa	p.R320Q	TRPV4_ENST00000392719.2_Missense_Mutation_p.R273Q|TRPV4_ENST00000541794.1_Missense_Mutation_p.R273Q|TRPV4_ENST00000537083.1_Missense_Mutation_p.R320Q|TRPV4_ENST00000536838.1_Missense_Mutation_p.R286Q|TRPV4_ENST00000544971.1_Missense_Mutation_p.R273Q|TRPV4_ENST00000346520.2_Missense_Mutation_p.R320Q|TRPV4_ENST00000261740.2_Missense_Mutation_p.R320Q	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	320					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TGTGTTGCCTCGCGAGTCCTG	0.592000													28	48					0	0	1	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274379	39274379	+	Silent	SNP	G	G	T	rs411996	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:39274379G>T	ENST00000391413.2	-	1	227	c.189C>A	c.(187-189)acC>acA	p.T63T		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	63	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCGGCAGCAGGTGGGCTGGC	0.657000													6	104					0.00621372	0.00637781	1	1	0
CPZ	8532	broad.mit.edu	37	4	8609052	8609052	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:8609052C>T	ENST00000382480.2	+	7	1516	c.716C>T	c.(715-717)tCa>tTa	p.S239L	CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000360986.4_Missense_Mutation_p.S376L|CPZ_ENST00000315782.6_Missense_Mutation_p.S365L	NM_001014448.2	NP_001014448.1	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	376					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTTGTGCTCTCAGCCAGCCTT	0.612000											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	40					0	0	1	0	0
CYFIP1	23191	broad.mit.edu	37	15	22960872	22960872	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:22960872G>T	ENST00000313077.7	+	18	2190	c.2065G>T	c.(2065-2067)Gac>Tac	p.D689Y	CYFIP1_ENST00000560848.1_Missense_Mutation_p.D689Y|CYFIP1_ENST00000435939.2_Missense_Mutation_p.D258Y	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	689					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GTTCCTGTACGACGAAATTGA	0.498000													20	32					1.00905e-13	1.38093e-13	1	1	0
ATAD1	84896	broad.mit.edu	37	10	89544284	89544284	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:89544284C>A	ENST00000308448.7	-	5	904	c.526G>T	c.(526-528)Gct>Tct	p.A176S	ATAD1_ENST00000541004.1_Missense_Mutation_p.A176S|ATAD1_ENST00000328142.3_Missense_Mutation_p.A176S|ATAD1_ENST00000400215.3_Missense_Mutation_p.A118S	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	176						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GAGAAGACAGCAGCAGCCAAT	0.408000													39	9					3.43241e-23	5.33626e-23	1	1	0
LOC647264	647264	broad.mit.edu	37	13	64321026	64321026	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:64321026C>G	ENST00000453638.2	+	1	93	c.93C>G	c.(91-93)agC>agG	p.S31R																	endometrium(2)|lung(1)|urinary_tract(1)	4						atggctccagctatggctgtg	0.537000													18	28					0	0	1	0	0
MURC	347273	broad.mit.edu	37	9	103348606	103348606	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:103348606G>T	ENST00000307584.5	+	2	1033	c.968G>T	c.(967-969)aGg>aTg	p.R323M		NM_001018116.1	NP_001018126.1	Q5BKX8	MURC_HUMAN	muscle-related coiled-coil protein	323					cell differentiation|muscle organ development|transcription, DNA-dependent					endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)	16		Acute lymphoblastic leukemia(62;0.0461)				GAGGCAGCCAGGCCGGTGTAT	0.517000													26	6					1.1804e-14	1.66024e-14	1	1	0
METTL13	51603	broad.mit.edu	37	1	171752916	171752916	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:171752916G>C	ENST00000361735.3	+	2	456	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	METTL13_ENST00000362019.3_5'UTR|METTL13_ENST00000458517.1_Missense_Mutation_p.E63Q|METTL13_ENST00000367737.5_Missense_Mutation_p.E64Q	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	64							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						AGAACTGAGTGAGCAACTGTA	0.468000													11	37					0	0	1	0	0
ACTN4	81	broad.mit.edu	37	19	39207875	39207875	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:39207875G>C	ENST00000252699.2	+	10	1138	c.1062G>C	c.(1060-1062)gaG>gaC	p.E354D	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Missense_Mutation_p.E135D	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	354					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCCAGCTGGAGATCAACTTCA	0.602000													28	41					0	0	1	0	0
PRR12	57479	broad.mit.edu	37	19	50099887	50099887	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:50099887G>T	ENST00000418929.2	+	4	2307	c.2295G>T	c.(2293-2295)ccG>ccT	p.P765P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	473							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGAGCCCTCCGCCCCCACCTC	0.716000													19	7					1.67942e-08	2.04832e-08	1	1	0
HUWE1	10075	broad.mit.edu	37	X	53596787	53596787	+	Splice_Site	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:53596787C>T	ENST00000342160.3	-	47	6770	c.6312_splice	c.e47-1	p.D2105_splice	HUWE1_ENST00000262854.6_Splice_Site_p.D2105_splice			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2105					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						ACACTGCAGTCCTGAAAAGTC	0.468000													9	26					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10096562	10096562	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:10096562C>A	ENST00000264828.3	-	31	2447	c.2362G>T	c.(2362-2364)Ggg>Tgg	p.G788W		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	788	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)			CCTGGCACCCCAAGCTTGCCC	0.582000													83	23					2.88734e-31	4.65005e-31	1	1	0
PRPH2	5961	broad.mit.edu	37	6	42672234	42672234	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:42672234G>T	ENST00000230381.5	-	2	936	c.697C>A	c.(697-699)Cac>Aac	p.H233N		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	233					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			TAACTGTAGTGTGCTGAGTTG	0.602000													9	34					3.09899e-07	3.63157e-07	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5416056	5416056	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:5416056T>A	ENST00000341928.2	-	13	2168	c.1828A>T	c.(1828-1830)Aac>Tac	p.N610Y	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N610Y|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000427684.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	610	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCAGAAAGGTTGGGGAAAGAG	0.532000													16	10					0	0	1	0	0
APBB1	322	broad.mit.edu	37	11	6431857	6431857	+	Splice_Site	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:6431857C>G	ENST00000389906.2	-	2	820	c.721_splice	c.e2+1	p.D241_splice	APBB1_ENST00000533407.1_Intron|APBB1_ENST00000311051.3_Splice_Site_p.D241_splice|APBB1_ENST00000299402.6_Splice_Site_p.D241_splice	NM_001257325.1	NP_001244254.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	241					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CACAAGGTACCTGTGTCCTCT	0.592000													28	17					0	0	1	0	0
AGRN	375790	broad.mit.edu	37	1	979782	979782	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:979782G>C	ENST00000379370.2	+	12	2267	c.2217G>C	c.(2215-2217)caG>caC	p.Q739H		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	739	Kazal-like 8.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTGAGTCACAGCGAGGGCTCT	0.672000													12	14					0	0	1	0	0
IGHV1OR21-1	390530	broad.mit.edu	37	21	10862824	10862824	+	RNA	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:10862824C>T	ENST00000559480.1	+	0	120																				breast(1)|endometrium(1)|kidney(3)|lung(20)|urinary_tract(1)	26						TGAAGGTCTCCTGCAAGGCTT	0.577000													14	40					0	0	1	0	0
HOXA10	3206	broad.mit.edu	37	7	27213044	27213044	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:27213044C>A	ENST00000283921.4	-	1	881	c.882G>T	c.(880-882)gcG>gcT	p.A294A	HOXA10_ENST00000396344.4_Intron|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_018951.3	NP_061824.3	P31260	HXA10_HUMAN	homeobox A10	294					spermatogenesis		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	9						CCGAGGACGACGCGTGCGCCT	0.741000													18	17					4.63292e-17	6.7779e-17	1	1	0
PLEKHA8P1	51054	broad.mit.edu	37	12	45567728	45567728	+	RNA	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:45567728C>G	ENST00000256692.5	-	0	957					NR_037144.1															breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTATTTTCCTCACTTGATATG	0.318000													29	30					0	0	1	0	0
IGLV3-9	28804	broad.mit.edu	37	22	23162141	23162141	+	RNA	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:23162141G>T	ENST00000390316.2	+	0	349																											GGATCCCTGAGCGATTCTCTG	0.577000													155	38					1.23367e-73	2.09688e-73	1	1	0
SYT2	127833	broad.mit.edu	37	1	202574844	202574844	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:202574844G>T	ENST00000367267.1	-	2	249	c.57C>A	c.(55-57)acC>acA	p.T19T	SYT2_ENST00000367268.4_Silent_p.T19T	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	19					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GCATCGTGGCGGTGGTGGTGG	0.567000													25	17					5.35047e-06	6.03351e-06	1	1	0
PTX4	390667	broad.mit.edu	37	16	1536528	1536528	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:1536528C>A	ENST00000440447.2	-	3	475	c.404G>T	c.(403-405)tGg>tTg	p.W135L	PTX4_ENST00000293922.1_Silent_p.V278V|PTX4_ENST00000447419.2_Silent_p.V283V			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TGAGGAAGACCACGTTCCTGG	0.657000													12	31					1.08611e-07	1.28961e-07	1	1	0
ADRA2B	151	broad.mit.edu	37	2	96781255	96781255	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:96781255C>A	ENST00000409345.3	-	1	729	c.634G>T	c.(634-636)Ggg>Tgg	p.G212W		NM_000682.5	NP_000673.2	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	212					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	TGCCCAGGCCCCCCCTTGGCC	0.622000													22	30					5.26018e-13	7.08241e-13	1	1	0
AURKAIP1	54998	broad.mit.edu	37	1	1309274	1309274	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:1309274G>A	ENST00000338370.3	-	3	907	c.507C>T	c.(505-507)ttC>ttT	p.F169F	AURKAIP1_ENST00000338338.5_Silent_p.F169F|AURKAIP1_ENST00000378853.3_Silent_p.F169F|AURKAIP1_ENST00000321751.5_Silent_p.F169F			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	169					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGTCTTTCTCGAACTTGATCT	0.592000													18	36					0	0	1	0	0
SLC9A1	6548	broad.mit.edu	37	1	27440545	27440545	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:27440545C>A	ENST00000263980.3	-	2	1160	c.585G>T	c.(583-585)gtG>gtT	p.V195V	SLC9A1_ENST00000374086.3_Silent_p.V195V|SLC9A1_ENST00000545949.1_Intron	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	195					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.V195V(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	ACAGCGTGCCCACCACGGCAA	0.617000													23	36					1.22574e-08	1.50127e-08	1	1	0
ZNF280B	140883	broad.mit.edu	37	22	22843003	22843003	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:22843003T>C	ENST00000360412.2	-	4	1496	c.721A>G	c.(721-723)Aag>Gag	p.K241E	ZNF280B_ENST00000406426.1_Missense_Mutation_p.K241E	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATATTGTCCTTTGGAAAAGCT	0.353000													146	40					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101922382	101922382	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:101922382C>A	ENST00000348070.1	-	12	1443	c.1444G>T	c.(1444-1446)Gca>Tca	p.A482S	PCSK6_ENST00000331826.7_Missense_Mutation_p.A317S|PCSK6_ENST00000344273.2_Missense_Mutation_p.A482S|PCSK6_ENST00000398181.2_Missense_Mutation_p.A482S|PCSK6_ENST00000358417.3_Missense_Mutation_p.A482S|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	483					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGAGCTTCTGCGTCCACCAAA	0.562000													7	10					0.00198382	0.0020727	1	1	0
SLC34A2	10568	broad.mit.edu	37	4	25678020	25678020	+	Silent	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:25678020C>G	ENST00000382051.3	+	13	1772	c.1722C>G	c.(1720-1722)ctC>ctG	p.L574L	SLC34A2_ENST00000504570.1_Silent_p.L573L|SLC34A2_ENST00000503434.1_Silent_p.L573L	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	574					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCCTCCGACTCCTGCAGTCTC	0.637000			T	ROS1	NSCLC								67	104					0	0	1	0	0
PCDHB10	56126	broad.mit.edu	37	5	140573353	140573353	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140573353G>T	ENST00000239446.4	+	1	1412	c.1228G>T	c.(1228-1230)Gac>Tac	p.D410Y		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		410	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGCGCTGGACAGAGAGAT	0.463000													30	67					1.2476e-16	1.81611e-16	1	1	0
B9D2	80776	broad.mit.edu	37	19	41860617	41860617	+	Silent	SNP	G	G	A	rs141578342		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:41860617G>A	ENST00000243578.3	-	4	735	c.516C>T	c.(514-516)ggC>ggT	p.G172G	TMEM91_ENST00000604123.1_Intron|TMEM91_ENST00000539627.1_Intron	NM_030578.3	NP_085055.2	Q9BPU9	B9D2_HUMAN	B9 protein domain 2	172					cilium assembly|mitotic prometaphase	centrosome|cilium axoneme|cytosol|microtubule basal body|nucleus	gamma-tubulin binding			large_intestine(1)|ovary(1)	2						AGCACTCCACGCCGTAGCGGT	0.637000													123	64					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131437	110131437	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:110131437C>A	ENST00000518632.1	+	3	1301	c.950C>A	c.(949-951)cCg>cAg	p.P317Q	TRHR_ENST00000311762.2_Missense_Mutation_p.P317Q			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	317						integral to plasma membrane	thyrotropin-releasing hormone receptor activity	p.P317L(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GCCATCAACCCGGTGATTTAC	0.433000													59	125					5.19286e-32	8.39788e-32	1	1	0
AGMO	392636	broad.mit.edu	37	7	15433757	15433757	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:15433757G>T	ENST00000342526.3	-	6	826	c.657C>A	c.(655-657)agC>agA	p.S219R	AGMO_ENST00000498264.1_5'UTR	NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	219					ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CCCTATGATGGCTAGGAGTAT	0.303000													7	22					8.12818e-05	8.81624e-05	1	1	0
TMEM132A	54972	broad.mit.edu	37	11	60698110	60698110	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:60698110G>T	ENST00000005286.4	+	5	1148	c.995G>T	c.(994-996)gGg>gTg	p.G332V	TMEM132A_ENST00000453848.2_Missense_Mutation_p.G332V	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	332						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACCGTGCTGGGCTCACAGAG	0.637000													30	48					9.39395e-14	1.29319e-13	1	1	0
LARP4	113251	broad.mit.edu	37	12	50867320	50867320	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:50867320G>T	ENST00000398473.2	+	14	1779		c.e14+1		LARP4_ENST00000347328.5_Splice_Site|LARP4_ENST00000518444.1_Splice_Site|LARP4_ENST00000429001.3_Splice_Site|LARP4_ENST00000293618.8_Splice_Site	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4								nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						CTGCATTAAGGTACAAGTTAT	0.478000													14	29					3.27435e-08	3.95227e-08	1	1	0
USP37	57695	broad.mit.edu	37	2	219339353	219339353	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:219339353C>A	ENST00000258399.3	-	20	2711	c.2299_splice	c.e20+1	p.D767_splice	USP37_ENST00000415516.1_Splice_Site_p.D673_splice|USP37_ENST00000418019.1_Splice_Site_p.D767_splice|USP37_ENST00000454775.1_Splice_Site_p.D767_splice	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	767					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTAAACCTACCCAGCTCTGTG	0.368000													20	71					1.96292e-10	2.51237e-10	1	1	0
PTP4A1	7803	broad.mit.edu	37	6	64288803	64288803	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:64288803G>T	ENST00000370651.3	+	4	1352	c.198_splice	c.e4-1	p.D67_splice	PTP4A1_ENST00000370650.2_Splice_Site_p.D67_splice	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1	67					cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			TCTGACTTAGGATTGGCCTTT	0.318000													7	21					0.0477658	0.0482625	1	1	0
ASTN1	460	broad.mit.edu	37	1	176863775	176863775	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:176863775G>T	ENST00000367654.2	-	17	2900	c.2887C>A	c.(2887-2889)Cct>Act	p.P963T	ASTN1_ENST00000361833.2_Missense_Mutation_p.P955T|ASTN1_ENST00000424564.2_Missense_Mutation_p.P955T|ASTN1_ENST00000367657.3_Missense_Mutation_p.P955T			O14525	ASTN1_HUMAN	astrotactin 1	963					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GGCTCAGCAGGGGTGTCAGGG	0.612000													18	63					6.94344e-10	8.78097e-10	1	1	0
ESPNP	284729	broad.mit.edu	37	1	17046489	17046489	+	RNA	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:17046489G>T	ENST00000492551.1	-	0	163					NR_026567.1																						AAGCCTCAGGGAGGGGAAGTC	0.617000													17	131					6.94344e-10	8.78097e-10	1	1	0
ENPP2	5168	broad.mit.edu	37	8	120575108	120575108	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:120575108C>A	ENST00000427067.2	-	25	2653	c.2473G>T	c.(2473-2475)Gag>Tag	p.E825*	ENPP2_ENST00000522826.1_Nonsense_Mutation_p.E829*|ENPP2_ENST00000522167.1_Nonsense_Mutation_p.E439*|ENPP2_ENST00000259486.6_Nonsense_Mutation_p.E856*|ENPP2_ENST00000075322.6_Nonsense_Mutation_p.E804*			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	804					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGCAGCTCTCCTCGTTGTCA	0.473000													21	23					5.26018e-13	7.08241e-13	1	1	0
GON4L	54856	broad.mit.edu	37	1	155735390	155735390	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:155735390C>T	ENST00000437809.1	-	21	3996	c.3874G>A	c.(3874-3876)Gtt>Att	p.V1292I	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000368331.1_Missense_Mutation_p.V1292I|GON4L_ENST00000361040.5_Missense_Mutation_p.V1292I|GON4L_ENST00000271883.5_Missense_Mutation_p.V1292I			Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1292					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTTTCACAACGGTCCAGCGA	0.537000													11	49					0	0	1	0	0
CBLN4	140689	broad.mit.edu	37	20	54578959	54578959	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:54578959G>A	ENST00000064571.2	-	1	1569	c.269C>T	c.(268-270)aCg>aTg	p.T90M		NM_080617.4	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	90	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AATGATGCGCGTCTTGTTGCT	0.657000													69	87					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121206888	121206888	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:121206888T>A	ENST00000264233.5	-	16	5018	c.4890A>T	c.(4888-4890)atA>atT	p.I1630I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1630					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCCCTGACCATATGAATGAAT	0.378000								DNA polymerases (catalytic subunits)					57	92					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	105160889	105160889	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:105160889G>T	ENST00000436393.2	+	23	3442	c.3201G>T	c.(3199-3201)atG>atT	p.M1067I	RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	496					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGAAGAACATGACAAAAAGCA	0.468000										HNSCC(12;0.0054)			18	27					3.32936e-07	3.89371e-07	1	1	0
MYF5	4617	broad.mit.edu	37	12	81111008	81111008	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:81111008C>A	ENST00000228644.3	+	1	318	c.166C>A	c.(166-168)Cga>Aga	p.R56R		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	56					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CGAGCACGTGCGAGCGCCTAC	0.642000													15	31					0.00244969	0.00255259	1	1	0
CSMD1	64478	broad.mit.edu	37	8	3889597	3889597	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:3889597T>A	ENST00000520002.1	-	4	995	c.440A>T	c.(439-441)aAt>aTt	p.N147I	CSMD1_ENST00000537824.1_Missense_Mutation_p.N147I|CSMD1_ENST00000602557.1_Missense_Mutation_p.N147I|CSMD1_ENST00000539096.1_Missense_Mutation_p.N147I|CSMD1_ENST00000400186.3_Missense_Mutation_p.N147I|CSMD1_ENST00000542608.1_Missense_Mutation_p.N147I|CSMD1_ENST00000602723.1_Missense_Mutation_p.N147I			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	147	Sushi 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TTCTCCAGGATTTCCACAAGT	0.413000													7	9					0	0	1	0	0
MVK	4598	broad.mit.edu	37	12	110034367	110034367	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:110034367C>T	ENST00000228510.3	+	11	1252	c.1176C>T	c.(1174-1176)gcC>gcT	p.A392A	MVK_ENST00000539696.1_Silent_p.A111A|MVK_ENST00000392727.3_Silent_p.A340A|MVK_ENST00000541384.1_Silent_p.A198A|MVK_ENST00000539575.1_Silent_p.A340A	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	392					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						TCCAGCAAGCCCTGGATGGCC	0.632000													27	28					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	112998818	112998818	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:112998818C>A	ENST00000495514.1	+	13	2872	c.2168C>A	c.(2167-2169)gCg>gAg	p.A723E	BOC_ENST00000273395.4_Missense_Mutation_p.A724E|BOC_ENST00000355385.3_Missense_Mutation_p.A723E			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	723	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TTCACGGATGCGGTCAATGAG	0.632000													18	45					5.01169e-05	5.49214e-05	1	1	0
CDCA2	157313	broad.mit.edu	37	8	25340958	25340958	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:25340958G>T	ENST00000330560.3	+	9	1553	c.1076G>T	c.(1075-1077)aGc>aTc	p.S359I	CDCA2_ENST00000380665.3_Missense_Mutation_p.S344I|CDCA2_ENST00000521098.2_3'UTR	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	359					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		ACTCATCCGAGCTTAATCTCA	0.318000													5	15					0.000602214	0.000636034	1	1	0
ANO3	63982	broad.mit.edu	37	11	26484598	26484598	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:26484598A>T	ENST00000256737.3	+	4	1187	c.335A>T	c.(334-336)tAc>tTc	p.Y112F	ANO3_ENST00000525139.1_Missense_Mutation_p.Y96F|ANO3_ENST00000531646.1_Missense_Mutation_p.Y112F|ANO3_ENST00000537978.1_Missense_Mutation_p.Y96F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	112						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GATAAGGATTACACGGATGAA	0.308000													5	11					0	0	1	0	0
OR6B3	150681	broad.mit.edu	37	2	240985219	240985219	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:240985219G>A	ENST00000319423.4	-	1	270	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R91C(2)		endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		AAAGAGATGCGTTTCTGCTGG	0.557000													30	59					0	0	1	0	0
ZNF827	152485	broad.mit.edu	37	4	146770558	146770558	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:146770558C>A	ENST00000508784.1	-	6	2364	c.2137G>T	c.(2137-2139)Gag>Tag	p.E713*	ZNF827_ENST00000511534.1_5'UTR|ZNF827_ENST00000513320.1_Nonsense_Mutation_p.E363*|ZNF827_ENST00000379448.4_Nonsense_Mutation_p.E713*			Q17R98	ZN827_HUMAN	zinc finger protein 827	713					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)					ACTCTGCCCTCTGGCATCTTC	0.498000													18	38					8.34094e-07	9.62924e-07	1	1	0
PCDH12	51294	broad.mit.edu	37	5	141336368	141336368	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:141336368G>T	ENST00000231484.3	-	1	2259	c.1049C>A	c.(1048-1050)cCa>cAa	p.P350Q		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	350	Cadherin 3.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGATGCTTGGGATGTTGTC	0.512000													27	49					3.73808e-20	5.64586e-20	1	1	0
NPAS3	64067	broad.mit.edu	37	14	33684434	33684434	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:33684434C>A	ENST00000346562.2	+	2	171	c.97C>A	c.(97-99)Cgc>Agc	p.R33S	NPAS3_ENST00000548645.1_Missense_Mutation_p.R33S|NPAS3_ENST00000357798.5_Missense_Mutation_p.R33S|NPAS3_ENST00000356141.4_Missense_Mutation_p.R63S|NPAS3_ENST00000341321.4_Missense_Mutation_p.R63S|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.R70S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	63					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGCTCGCTCCCGCCGGGGAAA	0.458000													24	7					1.10923e-09	1.39521e-09	1	1	0
IFT172	26160	broad.mit.edu	37	2	27700980	27700980	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:27700980T>A	ENST00000260570.3	-	11	1152	c.1049A>T	c.(1048-1050)aAg>aTg	p.K350M	IFT172_ENST00000416524.2_Missense_Mutation_p.K329M|IFT172_ENST00000359466.6_Missense_Mutation_p.K350M	NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	350					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)					ATAGTGTGACTTGAGCACCAC	0.507000													64	77					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958503	143958503	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:143958503C>A	ENST00000292427.4	-	3	563	c.531G>T	c.(529-531)ctG>ctT	p.L177L	CYP11B1_ENST00000377675.3_Silent_p.L248L|CYP11B1_ENST00000517471.1_Silent_p.L177L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	177					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCGTTCTGCAGCACCTTCT	0.612000									Familial Hyperaldosteronism type I				9	16					0.010729	0.0109545	1	1	0
LOX	4015	broad.mit.edu	37	5	121406285	121406285	+	Splice_Site	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:121406285C>G	ENST00000231004.4	-	5	1335		c.e5-1		LOX_ENST00000513319.1_Splice_Site|SRFBP1_ENST00000504881.1_Intron	NM_001178102.1|NM_002317.5	NP_001171573.1|NP_002308.2	P28300	LYOX_HUMAN	lysyl oxidase						protein modification process	extracellular space	copper ion binding|protein-lysine 6-oxidase activity			endometrium(1)|lung(6)|prostate(1)	8		all_cancers(142;0.0124)|Prostate(80;0.0322)|Ovarian(225;0.0814)|Breast(839;0.143)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;2.14e-11)|OV - Ovarian serous cystadenocarcinoma(64;7.87e-10)|all cancers(49;2.49e-09)|COAD - Colon adenocarcinoma(49;0.02)		GACTCAATCCCTAAGATAAAC	0.299000													8	7					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164750395	164750395	+	Missense_Mutation	SNP	G	G	T	rs141329406		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:164750395G>T	ENST00000264382.3	-	24	2713	c.2651C>A	c.(2650-2652)aCa>aAa	p.T884K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	884	Isomaltase.			T -> A (in Ref. 3; AAI15035).	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)	AACACTGTCTGTCAACCCAAG	0.358000										HNSCC(35;0.089)			8	18					0.00307968	0.00319476	1	1	0
OR14A16	284532	broad.mit.edu	37	1	247978716	247978716	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:247978716C>T	ENST00000357627.1	-	1	315	c.316G>A	c.(316-318)Gca>Aca	p.A106T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCTGCAGATGCTGAAGAAAGC	0.473000													34	40					0	0	1	0	0
MXD1	4084	broad.mit.edu	37	2	70165369	70165369	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:70165369A>G	ENST00000264444.2	+	6	879	c.619A>G	c.(619-621)Aag>Gag	p.K207E	MXD1_ENST00000465446.1_3'UTR|MXD1_ENST00000540449.1_Missense_Mutation_p.K197E	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	207					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						CACCAGCATCAAGAGAATAAA	0.557000													47	64					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61511089	61511089	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:61511089G>C	ENST00000257215.5	+	20	2373	c.2257G>C	c.(2257-2259)Gac>Cac	p.D753H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	753					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		GGCCCGCCAGGACCCGGTGGA	0.711000													51	57					0	0	1	0	0
NT5C1A	84618	broad.mit.edu	37	1	40124872	40124872	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:40124872A>T	ENST00000235628.1	-	6	1027	c.1028T>A	c.(1027-1029)gTg>gAg	p.V343E		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	343					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			ATGGGCGGCCACAGTGCCCAT	0.602000													38	37					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38146170	38146170	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:38146170C>A	ENST00000317025.8	-	19	3853	c.3336G>T	c.(3334-3336)tcG>tcT	p.S1112S	WHSC1L1_ENST00000527502.1_Silent_p.S1112S|WHSC1L1_ENST00000433384.2_Silent_p.S1063S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1112	AWS.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCAGGCACTCCGATTCCAAGC	0.502000			T	NUP98	AML								15	29					1.5739e-10	2.02111e-10	1	1	0
MEMO1	51072	broad.mit.edu	37	2	32117063	32117063	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:32117063C>G	ENST00000295065.4	-	6	887	c.578G>C	c.(577-579)tGg>tCg	p.W193S	MEMO1_ENST00000379383.3_Missense_Mutation_p.W196S|MEMO1_ENST00000404530.1_Missense_Mutation_p.W193S|MEMO1_ENST00000490459.1_Intron|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000426310.2_Missense_Mutation_p.W170S	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	193					regulation of microtubule-based process	cytosol|nucleus				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GAACTTACCCCAATGGCAGAA	0.343000													27	37					0	0	1	0	0
F2RL1	2150	broad.mit.edu	37	5	76129204	76129204	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:76129204A>G	ENST00000296677.4	+	2	978	c.772A>G	c.(772-774)Aca>Gca	p.T258A		NM_005242.4	NP_005233.3	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	258					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		AGCCTTCCTCACAGCCTCTGC	0.488000													29	30					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	171010794	171010794	+	Silent	SNP	A	A	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:171010794A>C	ENST00000337664.4	-	1	324	c.48T>G	c.(46-48)ccT>ccG	p.P16P	AADAT_ENST00000353187.2_Silent_p.P16P|AADAT_ENST00000515480.1_Silent_p.P16P|AADAT_ENST00000509167.1_Silent_p.P16P	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	16					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GGATGGGAGAAGGGTTTCTGG	0.547000											OREG0016403	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	44					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142566362	142566362	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:142566362G>T	ENST00000392957.2	+	15	2938	c.2151G>T	c.(2149-2151)ctG>ctT	p.L717L	EPHB6_ENST00000411471.2_Silent_p.L440L|EPHB6_ENST00000442129.1_Silent_p.L717L	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	717	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGACCTTCCTGGGCCGGGCCG	0.697000													32	4					8.88839e-20	1.33727e-19	1	1	0
CSPG4	1464	broad.mit.edu	37	15	75980117	75980117	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:75980117C>A	ENST00000308508.5	-	3	3381	c.3289G>T	c.(3289-3291)Ggg>Tgg	p.G1097W		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1097	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGGTCAGCCCCTGAGTGCACG	0.647000													48	38					3.50607e-19	5.23441e-19	1	1	0
NFASC	23114	broad.mit.edu	37	1	204957825	204957825	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:204957825G>T	ENST00000367172.4	+	25	3307	c.2979G>T	c.(2977-2979)acG>acT	p.T993T	NFASC_ENST00000404907.1_Silent_p.T989T|NFASC_ENST00000338586.6_Silent_p.T993T|NFASC_ENST00000339876.6_Silent_p.T886T|NFASC_ENST00000404076.1_Silent_p.T972T|NFASC_ENST00000360049.4_Silent_p.T989T|NFASC_ENST00000513543.1_Silent_p.T989T|NFASC_ENST00000367170.4_Silent_p.T993T|NFASC_ENST00000338515.6_Silent_p.T993T|NFASC_ENST00000367169.4_Silent_p.T886T|NFASC_ENST00000401399.1_Silent_p.T886T|NFASC_ENST00000367171.4_Silent_p.T978T|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000539706.1_Silent_p.T989T			O94856	NFASC_HUMAN	neurofascin	993	Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCAAGTTCACGGTGCAAAGAA	0.547000													43	54					2.95478e-19	4.41701e-19	1	1	0
GAN	8139	broad.mit.edu	37	16	81388230	81388230	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:81388230A>C	ENST00000248272.3	+	3	665	c.503A>C	c.(502-504)gAa>gCa	p.E168A		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin	168	BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				AGCAGCACGGAAGAATTCTTA	0.418000													47	8					0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37707039	37707039	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:37707039G>A	ENST00000248901.6	+	10	1006	c.819G>A	c.(817-819)gtG>gtA	p.V273V		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	273	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GGGGCCGCGTGAAGACGTGGA	0.622000													45	63					0	0	1	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157881	26157881	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:26157881C>A	ENST00000325250.1	+	2	966	c.779C>A	c.(778-780)cCc>cAc	p.P260H		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	260	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CAGCAAGTGCCCAACAGTGAT	0.488000													11	9					5.50884e-06	6.17032e-06	1	1	0
GLP1R	2740	broad.mit.edu	37	6	39046976	39046976	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:39046976G>T	ENST00000373256.4	+	10	1086	c.1043_splice	c.e10+1	p.R348_splice		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	348					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	ATCAAATGCAGGTGATGTAAC	0.512000													39	45					9.8876e-21	1.50116e-20	1	1	0
SLC1A6	6511	broad.mit.edu	37	19	15067354	15067354	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:15067354C>G	ENST00000430939.2	-	6	1040	c.911G>C	c.(910-912)cGg>cCg	p.R304P	SLC1A6_ENST00000221742.3_Missense_Mutation_p.R368P|SLC1A6_ENST00000600144.1_Intron			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	368					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R368Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GAAGGGGTTCCGGTGAGTGAC	0.607000													10	7					0	0	1	0	0
WWP1	11059	broad.mit.edu	37	8	87442962	87442962	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:87442962C>T	ENST00000517970.1	+	12	1676	c.1369C>T	c.(1369-1371)Cct>Tct	p.P457S	WWP1_ENST00000341922.2_Missense_Mutation_p.P327S|WWP1_ENST00000265428.4_Missense_Mutation_p.P457S|WWP1_ENST00000349423.2_Missense_Mutation_p.P239S	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	457	WW 3.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CCCTTATGGACCTTTGCCACC	0.308000													11	20					0	0	1	0	0
MYO9A	4649	broad.mit.edu	37	15	72324907	72324907	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:72324907G>A	ENST00000356056.5	-	3	1335	c.863C>T	c.(862-864)gCt>gTt	p.A288V	MYO9A_ENST00000564571.1_Missense_Mutation_p.A288V|MYO9A_ENST00000424560.1_Missense_Mutation_p.A288V|MYO9A_ENST00000566885.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.A288V|MYO9A_ENST00000563542.1_5'UTR	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	288	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTTATTATGAGCTGTCTTTGC	0.363000													5	12					0	0	1	0	0
TLR7	51284	broad.mit.edu	37	X	12905118	12905118	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:12905118C>A	ENST00000380659.3	+	3	1630	c.1491C>A	c.(1489-1491)acC>acA	p.T497T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	497					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATGGGCAGACCTTGGATCTAA	0.353000													38	9					3.62531e-18	5.37117e-18	1	1	0
MISP	126353	broad.mit.edu	37	19	757689	757689	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:757689A>G	ENST00000215582.6	+	2	846	c.743A>G	c.(742-744)aAg>aGg	p.K248R		NM_173481.2	NP_775752.1			mitotic spindle positioning																		GTTCCCATCAAGCCCCAGGTG	0.667000													16	2					0	0	1	0	0
KIAA0101	9768	broad.mit.edu	37	15	64669084	64669084	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:64669084C>A	ENST00000300035.4	-	3	286	c.148G>T	c.(148-150)Ggg>Tgg	p.G50W	KIAA0101_ENST00000558008.1_Missense_Mutation_p.G50W|KIAA0101_ENST00000560234.1_Missense_Mutation_p.E50D|KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.G23W	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	50						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						ACGGGGTTCCCTCCTGCATAT	0.368000													18	12					2.94398e-08	3.56828e-08	1	1	0
LTK	4058	broad.mit.edu	37	15	41796625	41796625	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:41796625C>A	ENST00000263800.6	-	19	2357	c.2261G>T	c.(2260-2262)cGc>cTc	p.R754L	LTK_ENST00000453182.2_Missense_Mutation_p.R624L|LTK_ENST00000561619.1_Missense_Mutation_p.R452L|LTK_ENST00000355166.5_Missense_Mutation_p.R693L	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	754	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGTCATGATGCGGTACCTGGG	0.627000										TSP Lung(18;0.14)			21	37					3.51602e-12	4.65343e-12	1	1	0
OR51B4	79339	broad.mit.edu	37	11	5322924	5322924	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:5322924G>T	ENST00000380224.1	-	1	302	c.253C>A	c.(253-255)Cta>Ata	p.L85I	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTGGTCTAGCAGCAGGACA	0.512000													22	23					3.62473e-10	4.61906e-10	1	1	0
SPEG	10290	broad.mit.edu	37	2	220349276	220349276	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:220349276G>A	ENST00000312358.7	+	30	7223	c.7091G>A	c.(7090-7092)cGt>cAt	p.R2364H	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2364	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGCCCCTTCCGTGGGGCCGAG	0.731000													23	12					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33876265	33876265	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:33876265G>T	ENST00000300255.2	+	7	1362	c.889G>T	c.(889-891)Gtt>Ttt	p.V297F	EVA1C_ENST00000382699.3_Missense_Mutation_p.V294F|EVA1C_ENST00000485488.1_3'UTR|EVA1C_ENST00000401402.3_Missense_Mutation_p.V249F	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		CGGATCGAAGGTTCTGAGGAA	0.423000													29	33					1.39806e-14	1.95694e-14	1	1	0
ADAMTS17	170691	broad.mit.edu	37	15	100537735	100537735	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:100537735C>A	ENST00000268070.4	-	19	2756	c.2651G>T	c.(2650-2652)cGg>cTg	p.R884L		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	884	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTCACCTCCCGGTGCTGGAA	0.677000													29	12					3.65163e-15	5.1798e-15	1	1	0
ARMC1	55156	broad.mit.edu	37	8	66516684	66516684	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:66516684C>G	ENST00000276569.3	-	7	1038	c.794G>C	c.(793-795)gGa>gCa	p.G265A	ARMC1_ENST00000458464.2_Missense_Mutation_p.G163A	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	265					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CCAGCTAGCTCCACCTTCTGG	0.517000													33	28					0	0	1	0	0
CGA	1081	broad.mit.edu	37	6	87796136	87796136	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:87796136C>T	ENST00000369582.2	-	3	205	c.105G>A	c.(103-105)acG>acA	p.T35T		NM_000735.3	NP_000726.1	P01215	GLHA_HUMAN	glycoprotein hormones, alpha polypeptide	35					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TTTCCTGTAGCGTGCATTCTG	0.473000													18	55					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124856917	124856917	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:124856917G>C	ENST00000356219.3	-	21	2613	c.2458C>G	c.(2458-2460)Cct>Gct	p.P820A	NCOR2_ENST00000405201.1_Missense_Mutation_p.P820A|NCOR2_ENST00000404621.1_Missense_Mutation_p.P802A|NCOR2_ENST00000404121.2_Missense_Mutation_p.P373A|NCOR2_ENST00000397355.1_Missense_Mutation_p.P803A|NCOR2_ENST00000429285.2_Missense_Mutation_p.P802A	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	820	Pro-rich.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGACCACAGGAGGAGGTGCA	0.716000													10	18					0	0	1	0	0
NEFH	4744	broad.mit.edu	37	22	29881748	29881748	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:29881748A>G	ENST00000310624.6	+	3	1153	c.1120A>G	c.(1120-1122)Acc>Gcc	p.T374A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	374	Coil 2B.|Rod.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GCTGAGGAACACCAAGTGGGA	0.562000													22	29					0	0	1	0	0
SLAMF6	114836	broad.mit.edu	37	1	160461113	160461113	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:160461113G>A	ENST00000368059.3	-	3	517	c.448C>T	c.(448-450)Cat>Tat	p.H150Y	SLAMF6_ENST00000368055.1_Missense_Mutation_p.H39Y|SLAMF6_ENST00000368057.3_Missense_Mutation_p.H150Y	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	150	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CAAGTCAGATGGAGCTCACAG	0.438000													19	53					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16297293	16297293	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:16297293G>A	ENST00000205557.7	-	8	1001	c.972C>T	c.(970-972)ttC>ttT	p.F324F	ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	324	ABC transmembrane type-1 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CAGTGAACCTGAAGACATCAC	0.587000													10	32					0	0	1	0	0
OGFOD3	79701	broad.mit.edu	37	17	80373371	80373371	+	Silent	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:80373371C>G	ENST00000313056.5	-	2	358	c.207G>C	c.(205-207)ggG>ggC	p.G69G	OGFOD3_ENST00000329197.5_Silent_p.G69G	NM_024648.2|NM_175902.4	NP_078924.1|NP_787098.3			2-oxoglutarate and iron-dependent oxygenase domain containing 3																		CCTCTGCGACCCCGTCGTCGG	0.672000													94	109					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10469343	10469343	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:10469343G>T	ENST00000382483.3	-	4	2488	c.2265C>A	c.(2263-2265)caC>caA	p.H755Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	755					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGGGAGCGTTGTGCGGGGAGA	0.642000													17	30					1.02788e-11	1.3512e-11	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139819840	139819840	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:139819840G>A	ENST00000297183.6	+	4	878	c.754G>A	c.(754-756)Gaa>Aaa	p.E252K	ANKHD1_ENST00000360839.2_Missense_Mutation_p.E252K|ANKHD1_ENST00000394722.3_Missense_Mutation_p.E241K|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.E252K|ANKHD1_ENST00000394723.3_Missense_Mutation_p.E252K	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGTATTATGAATTAGCACA	0.318000													21	36					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	39003042	39003042	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:39003042T>A	ENST00000355481.4	+	63	9522	c.9391T>A	c.(9391-9393)Tac>Aac	p.Y3131N	RYR1_ENST00000359596.3_Missense_Mutation_p.Y3131N|RYR1_ENST00000360985.3_Missense_Mutation_p.Y3131N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3131					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAACCTCACCTACACCACTGT	0.632000													13	164					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36716866	36716866	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:36716866G>C	ENST00000216181.5	-	8	1075	c.845C>G	c.(844-846)tCt>tGt	p.S282C		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	282	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCCAGCCCCAGACAGGAGATA	0.527000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				11	9					0	0	1	0	0
EEF1A2	1917	broad.mit.edu	37	20	62122069	62122069	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:62122069C>A	ENST00000217182.3	-	6	957	c.792G>T	c.(790-792)gtG>gtT	p.V264V	EEF1A2_ENST00000298049.7_Silent_p.V264V	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	264						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACCCGGCCCACGGGCACCG	0.657000													21	21					3.8784e-16	5.62465e-16	1	1	0
ACO2	50	broad.mit.edu	37	22	41865186	41865186	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:41865186G>T	ENST00000396512.3	+	1	53	c.36_splice	c.e1+1	p.Q12_splice	ACO2_ENST00000216254.4_Splice_Site_p.Q12_splice			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	12					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTCGGCTGCAGGTGAGCGAGC	0.642000													29	37					9.80776e-20	1.47369e-19	1	1	0
VSTM2A	222008	broad.mit.edu	37	7	54617605	54617605	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:54617605G>C	ENST00000302287.3	+	4	782	c.376G>C	c.(376-378)Gag>Cag	p.E126Q	VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.E125Q|VSTM2A_ENST00000402613.3_Missense_Mutation_p.E126Q|VSTM2A_ENST00000407838.3_Missense_Mutation_p.E126Q|VSTM2A_ENST00000404951.1_Missense_Mutation_p.E126Q			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	126	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			AGGCTTATATGAGTGCAGGGT	0.478000													8	15					0	0	1	0	0
MFSD3	113655	broad.mit.edu	37	8	145736017	145736017	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:145736017C>T	ENST00000301327.4	+	3	1127	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	289	Leu-rich.				transmembrane transport	integral to membrane				central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGCTGCGCTTCCGCCTCGGGG	0.622000													77	93					0	0	1	0	0
TIGIT	201633	broad.mit.edu	37	3	114018492	114018492	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:114018492C>G	ENST00000481065.1	+	4	3256	c.641C>G	c.(640-642)gCc>gGc	p.A214G	TIGIT_ENST00000486257.1_Missense_Mutation_p.A147G|TIGIT_ENST00000383671.3_Missense_Mutation_p.A147G			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	147					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						GGAGCCATGGCCGCGACGCTG	0.582000													13	29					0	0	1	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6439176	6439176	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:6439176G>A	ENST00000162749.2	-	9	1124	c.825C>T	c.(823-825)ccC>ccT	p.P275P	TNFRSF1A_ENST00000540022.1_Silent_p.P232P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	275					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						agcctggagtgggactgaagc	0.592000													12	14					0	0	1	0	0
OR5B2	390190	broad.mit.edu	37	11	58190188	58190188	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:58190188T>C	ENST00000302581.2	-	1	598	c.547A>G	c.(547-549)Atg>Gtg	p.M183V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GACAGAGCCATGACTGCTGGA	0.383000													11	22					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32638452	32638452	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:32638452C>G	ENST00000286827.3	-	5	1308	c.837G>C	c.(835-837)gaG>gaC	p.E279D	TIAM1_ENST00000469412.1_Intron|TIAM1_ENST00000541036.1_Missense_Mutation_p.E279D	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	279					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						ACGGAGGAGTCTCTTCAGCAG	0.493000													48	39					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20738127	20738127	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:20738127G>T	ENST00000404938.2	+	17	2760	c.2108G>T	c.(2107-2109)gGa>gTa	p.G703V	ABCB5_ENST00000258738.6_Missense_Mutation_p.G258V	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	258	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTTCTAAATGGAACTGTTCAT	0.323000													7	8					2.0095e-06	2.30618e-06	1	1	0
MANBA	4126	broad.mit.edu	37	4	103579013	103579013	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:103579013C>A	ENST00000226578.4	-	12	1629	c.1530G>T	c.(1528-1530)ggG>ggT	p.G510G	MANBA_ENST00000505239.1_Silent_p.G453G	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	510					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		CAGTTTCAGCCCCATTTGTAG	0.373000													7	11					0.000157383	0.000169289	1	1	0
LY9	4063	broad.mit.edu	37	1	160783585	160783585	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:160783585C>A	ENST00000263285.5	+	3	644	c.614C>A	c.(613-615)tCc>tAc	p.S205Y	LY9_ENST00000341032.4_Missense_Mutation_p.S205Y|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368041.2_Missense_Mutation_p.S165Y	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	205	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AATGGAGGCTCCATTCTTACC	0.547000													84	71					1.45978e-39	2.4212e-39	1	1	0
CSNK2A2	1459	broad.mit.edu	37	16	58220674	58220674	+	Silent	SNP	A	A	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:58220674A>C	ENST00000262506.3	-	3	486	c.303T>G	c.(301-303)acT>acG	p.T101T	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	101	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GGTCCTTTACAGTGTCAATCA	0.433000													36	8					0	0	1	0	0
OR8H1	219469	broad.mit.edu	37	11	56057942	56057942	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:56057942G>A	ENST00000313022.2	-	1	624	c.597C>T	c.(595-597)caC>caT	p.H199H		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CAGCTAAAATGTGTATCATGA	0.413000													11	36					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95730645	95730645	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:95730645G>C	ENST00000311106.3	-	13	2044	c.1807C>G	c.(1807-1809)Cag>Gag	p.Q603E	PCSK1_ENST00000508626.1_Missense_Mutation_p.Q556E|CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	603					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACACGAGGCTGCTTCATATGC	0.473000													22	39					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237798272	237798272	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:237798272C>A	ENST00000366574.2	+	44	7089	c.6772C>A	c.(6772-6774)Cgt>Agt	p.R2258S	RYR2_ENST00000360064.6_Missense_Mutation_p.R2256S|RYR2_ENST00000542537.1_Missense_Mutation_p.R2242S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2258	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R2256C(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTAGCTCTGCGTGAGCCGGA	0.413000													3	7					0.00024832	0.000264905	1	1	0
STAB2	55576	broad.mit.edu	37	12	104134523	104134523	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:104134523G>A	ENST00000388887.2	+	55	6074	c.5870G>A	c.(5869-5871)cGa>cAa	p.R1957Q		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1957	Laminin EGF-like 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.R1957Q(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TACTTCGGGCGAGACTGTCAG	0.547000													30	45					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145625643	145625643	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:145625643G>A	ENST00000349769.3	-	9	948	c.854C>T	c.(853-855)tCg>tTg	p.S285L		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	285					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTACAACAGCGAGTTGACGGC	0.622000													13	28					0	0	1	0	0
OR2T3	343173	broad.mit.edu	37	1	248637536	248637536	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:248637536C>A	ENST00000359594.2	+	1	910	c.885C>A	c.(883-885)taC>taA	p.Y295*		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTCATTTACAGTCTCCGCA	0.498000													32	184					7.34454e-26	1.16197e-25	1	1	0
TNR	7143	broad.mit.edu	37	1	175365698	175365698	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:175365698T>A	ENST00000367674.1	-	5	1930	c.1222A>T	c.(1222-1224)Act>Tct	p.T408S	TNR_ENST00000263525.2_Missense_Mutation_p.T408S	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	408	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACCTTGGCAGTGATGGGAAGG	0.507000													23	16					0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40752995	40752995	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:40752995C>T	ENST00000381782.2	+	2	780	c.285C>T	c.(283-285)ttC>ttT	p.F95F	NSUN7_ENST00000316607.5_Silent_p.F95F	NM_024677.4	NP_078953.3			NOP2/Sun domain family, member 7											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGCTGGCTTTCAGTGCCCTGA	0.488000													43	39					0	0	1	0	0
FCN3	8547	broad.mit.edu	37	1	27697206	27697206	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:27697206C>A	ENST00000270879.4	-	7	544	c.539G>T	c.(538-540)cGg>cTg	p.R180L	FCN3_ENST00000354982.2_Missense_Mutation_p.R169L	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	180	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding	p.R180L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCTCTACCCGCAGCTCCCA	0.577000													61	70					5.86059e-21	8.9443e-21	1	1	0
GREM2	64388	broad.mit.edu	37	1	240656703	240656703	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:240656703G>A	ENST00000318160.4	-	2	339	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	25					BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			CCCGCCGGCCGGTTCTTCCGG	0.622000													15	18					0	0	1	0	0
ALS2CL	259173	broad.mit.edu	37	3	46712522	46712522	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:46712522C>G	ENST00000318962.4	-	26	2897	c.2814G>C	c.(2812-2814)atG>atC	p.M938I	ALS2CL_ENST00000383742.3_Missense_Mutation_p.M285I|ALS2CL_ENST00000415953.1_Missense_Mutation_p.M938I	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	938	VPS9.				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GGTGCAGCCTCATGTCTTCTT	0.587000													55	18					0	0	1	0	0
SF3B2	10992	broad.mit.edu	37	11	65836163	65836163	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:65836163C>G	ENST00000528302.1	+	21	2638	c.2584C>G	c.(2584-2586)Cag>Gag	p.Q862E	SF3B2_ENST00000322535.6_Missense_Mutation_p.Q879E|RP11-1167A19.2_ENST00000529036.1_Intron			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	879					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						ACGGAAAGCTCAGCCCCAGGA	0.522000											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	59					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14749075	14749075	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:14749075C>A	ENST00000253673.5	-	11	1426	c.1326G>T	c.(1324-1326)gtG>gtT	p.V442V	EMR3_ENST00000599900.1_Silent_p.V227V|EMR3_ENST00000344373.4_Silent_p.V390V|EMR3_ENST00000443157.2_Silent_p.V316V	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	442					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGAAGAGGTGCACACCCTCCA	0.567000													28	18					1.39806e-14	1.95694e-14	1	1	0
CASC3	22794	broad.mit.edu	37	17	38320071	38320071	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:38320071G>A	ENST00000264645.7	+	7	1349	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	375					mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						TGGCAGTCCTGAGAAGGAAGA	0.557000													75	100					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87196164	87196164	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:87196164A>T	ENST00000265724.3	-	7	884	c.467T>A	c.(466-468)aTg>aAg	p.M156K	ABCB1_ENST00000543898.1_Intron	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	156	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTCCTGTCGCATTATAGCATG	0.428000													21	33					0	0	1	0	0
UBQLN2	29978	broad.mit.edu	37	X	56590574	56590574	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:56590574C>A	ENST00000338222.5	+	1	549	c.268C>A	c.(268-270)Cat>Aat	p.H90N		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	90	Ubiquitin-like.					cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						CTTGATCCAGCATGGCATCCA	0.483000													22	19					7.41877e-09	9.14407e-09	1	1	0
ZNF131	7690	broad.mit.edu	37	5	43161541	43161541	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:43161541G>C	ENST00000509634.1	+	4	1018	c.562G>C	c.(562-564)Gag>Cag	p.E188Q	ZNF131_ENST00000399534.1_Missense_Mutation_p.E188Q|ZNF131_ENST00000505606.2_Missense_Mutation_p.E188Q|ZNF131_ENST00000306938.4_Missense_Mutation_p.E188Q|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000509156.1_Missense_Mutation_p.E188Q			P52739	ZN131_HUMAN	zinc finger protein 131	188						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						CGAAACATTAGAGGAAGTGGC	0.458000													16	26					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799522	45799522	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:45799522C>A	ENST00000553795.1	-	4	657	c.349G>T	c.(349-351)Gcc>Tcc	p.A117S	OR13A1_ENST00000374401.2_Missense_Mutation_p.A117S|OR13A1_ENST00000536058.1_Missense_Mutation_p.A117S	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TAGAGCTGGGCCATGCAGCCC	0.587000													6	19					2.0095e-06	2.30618e-06	1	1	0
OSM	5008	broad.mit.edu	37	22	30661033	30661033	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:30661033C>A	ENST00000215781.2	-	2	175	c.135G>T	c.(133-135)caG>caT	p.Q45H	OSM_ENST00000403463.1_Intron|OSM_ENST00000403389.1_Missense_Mutation_p.Q24H	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	45					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			TGAGATCTGTCTGCTTCTGGA	0.572000													72	102					5.62145e-24	8.82181e-24	1	1	0
PHF20	51230	broad.mit.edu	37	20	34526625	34526625	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:34526625G>T	ENST00000374012.3	+	16	2436	c.2307G>T	c.(2305-2307)cgG>cgT	p.R769R	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	769					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					ACAGAAGCCGGGAGCATCCTG	0.537000													27	96					7.01153e-11	9.04364e-11	1	1	0
CCDC138	165055	broad.mit.edu	37	2	109455678	109455678	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:109455678C>T	ENST00000295124.4	+	11	1304	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	CCDC138_ENST00000412964.2_Missense_Mutation_p.P415L	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	415										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CAGTGGATGCCATTTGTGAAT	0.338000													13	20					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83095861	83095861	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:83095861C>A	ENST00000307792.3	-	4	860	c.393G>T	c.(391-393)ctG>ctT	p.L131L	SEMA3E_ENST00000427262.1_Silent_p.L71L	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	131	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TACCACAGGTCAGAAGGTGTG	0.378000													11	10					0.010729	0.0109545	1	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70016573	70016573	+	Missense_Mutation	SNP	G	G	A	rs3748384	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:70016573G>A	ENST00000325845.7	-	22	2361	c.292C>T	c.(292-294)Cgt>Tgt	p.R98C	RP11-419C5.2_ENST00000525562.1_5'UTR|PDXDC2P_ENST00000531894.1_RNA|RP11-419C5.2_ENST00000532298.1_Missense_Mutation_p.R113C																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TCCTGTCTACGGCGGTTGGAC	0.483000													5	55					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7579538	7579538	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:7579538G>C	ENST00000379802.3	+	23	3456	c.3115G>C	c.(3115-3117)Gag>Cag	p.E1039Q	DSP_ENST00000418664.2_Missense_Mutation_p.E1039Q	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1039	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGTTTTGGAAGAGGAGCTCAG	0.413000													14	1					0	0	1	0	0
PAK2	5062	broad.mit.edu	37	3	196509691	196509691	+	Silent	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:196509691A>T	ENST00000327134.3	+	2	496	c.174A>T	c.(172-174)tcA>tcT	p.S58S		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	58					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)		CCATATTCTCAGGCACAGAGA	0.413000													37	74					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169648925	169648925	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:169648925C>T	ENST00000366787.3	-	4	445	c.196G>A	c.(196-198)Gtg>Atg	p.V66M		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	66	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCTGCGTTCACCGGTGGGATG	0.622000													34	13					0	0	1	0	0
IQSEC1	9922	broad.mit.edu	37	3	12977840	12977840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:12977840C>A	ENST00000273221.4	-	3	934	c.718G>T	c.(718-720)Gag>Tag	p.E240*		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	240					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAGGCGTCCTCCAGCTCGGTG	0.647000													43	16					4.67007e-22	7.19326e-22	1	1	0
DGKD	8527	broad.mit.edu	37	2	234343477	234343477	+	Silent	SNP	G	G	A	rs143682023	byFrequency	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:234343477G>A	ENST00000264057.2	+	5	528	c.516G>A	c.(514-516)gcG>gcA	p.A172A	DGKD_ENST00000409813.3_Silent_p.A128A	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	172					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GTTCCCACGCGAGGCCGACCT	0.567000													68	149					0	0	1	0	0
FBXL16	146330	broad.mit.edu	37	16	746839	746839	+	Silent	SNP	C	C	T	rs142135051		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:746839C>T	ENST00000397621.1	-	2	898	c.567G>A	c.(565-567)gcG>gcA	p.A189A	FBXL16_ENST00000324361.5_Silent_p.A189A	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	189										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				TCTTGGAGAGCGCATAGTTGT	0.612000													12	43					0	0	1	0	0
ARMC12	221481	broad.mit.edu	37	6	35715382	35715382	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:35715382G>T	ENST00000373866.3	+	5	670	c.648G>T	c.(646-648)ctG>ctT	p.L216L	ARMC12_ENST00000373869.3_Silent_p.L216L|ARMC12_ENST00000288065.2_Silent_p.L243L			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	216							binding										TGAGCTACCTGGCACAGAAGA	0.483000													25	67					2.44723e-14	3.41324e-14	1	1	0
PDE3A	5139	broad.mit.edu	37	12	20774299	20774299	+	Silent	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:20774299T>G	ENST00000359062.3	+	5	1534	c.1494T>G	c.(1492-1494)gcT>gcG	p.A498A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	498					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CATCCTATGCTATTTCTGCAG	0.398000													5	22					0	0	1	0	0
CENPI	2491	broad.mit.edu	37	X	100402993	100402993	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:100402993C>T	ENST00000372927.1	+	19	2214	c.1937C>T	c.(1936-1938)tCa>tTa	p.S646L	CENPI_ENST00000423383.1_Missense_Mutation_p.S646L|CENPI_ENST00000218507.5_Missense_Mutation_p.S646L	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	646					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TATTTGACATCAATGGTTGGT	0.348000													23	13					0	0	1	0	0
GPC4	2239	broad.mit.edu	37	X	132458535	132458535	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:132458535C>T	ENST00000370828.3	-	3	873	c.349G>A	c.(349-351)Gag>Aag	p.E117K	GPC4_ENST00000535467.1_Missense_Mutation_p.E47K	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	117					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					AGGGATTTCTCTGCATTTTCA	0.303000													54	24					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23510028	23510028	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:23510028G>T	ENST00000296682.3	+	4	375		c.e4-1			NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.?(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTTCTTTTCAGGTCTCAGAGC	0.483000										HNSCC(3;0.000094)			12	21					1.5842e-08	1.93422e-08	1	1	0
TOX3	27324	broad.mit.edu	37	16	52473611	52473611	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:52473611C>A	ENST00000219746.9	-	7	1541	c.1257G>T	c.(1255-1257)atG>atT	p.M419I	TOX3_ENST00000407228.3_Missense_Mutation_p.M414I	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	419					apoptosis|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|estrogen response element binding|phosphoprotein binding|protein homodimerization activity			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						TGGTCGTTCCCATGGAGCTTA	0.542000													36	10					4.3181e-19	6.43027e-19	1	1	0
PLCB2	5330	broad.mit.edu	37	15	40591092	40591092	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:40591092G>C	ENST00000260402.3	-	9	1006	c.757C>G	c.(757-759)Cgg>Ggg	p.R253G	PLCB2_ENST00000456256.2_Missense_Mutation_p.R253G|PLCB2_ENST00000557821.1_Missense_Mutation_p.R253G	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	253					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GAGTTAAGCCGGGAGTCCCGC	0.567000													45	42					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155099351	155099351	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:155099351C>G	ENST00000392825.3	+	6	1186	c.619C>G	c.(619-621)Ctt>Gtt	p.L207V	GALNT13_ENST00000409237.1_Missense_Mutation_p.L207V	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	207	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CATAACTTTTCTTGATGCACA	0.453000													15	12					0	0	1	0	0
ZNF280C	55609	broad.mit.edu	37	X	129363013	129363013	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:129363013T>A	ENST00000370978.4	-	10	1238	c.1085A>T	c.(1084-1086)tAt>tTt	p.Y362F		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGGTGTGGGATATTGCCGGTA	0.438000													65	14					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284697	52284697	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:52284697G>T	ENST00000301190.6	+	5	1194	c.967G>T	c.(967-969)Gcc>Tcc	p.A323S	ANKRD33_ENST00000538991.1_Missense_Mutation_p.A129S|ANKRD33_ENST00000340970.4_Missense_Mutation_p.A198S|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	198										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CGTCACCACTGCCTGCCACAC	0.642000													18	30					1.00905e-13	1.38093e-13	1	1	0
SSH2	85464	broad.mit.edu	37	17	27993912	27993912	+	Silent	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:27993912A>T	ENST00000269033.3	-	10	1075	c.924T>A	c.(922-924)ccT>ccA	p.P308P	SSH2_ENST00000540801.1_Silent_p.P335P|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	308	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATATCTGTGTAGGGCTATCCA	0.403000													22	37					0	0	1	0	0
SOX18	54345	broad.mit.edu	37	20	62680582	62680582	+	Silent	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:62680582T>C	ENST00000340356.7	-	1	412	c.288A>G	c.(286-288)gcA>gcG	p.A96A		NM_018419.2	NP_060889.1	P35713	SOX18_HUMAN	SRY (sex determining region Y)-box 18	96					angiogenesis|blood vessel endothelial cell migration|endocardial cell differentiation|endocardium formation|establishment of endothelial barrier|heart looping|lymphangiogenesis|lymphatic endothelial cell differentiation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|positive regulation of transcription from RNA polymerase II promoter|vasculogenesis	nucleus	transcription regulatory region DNA binding			lung(3)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					GCTCGTCCTTTGCCCACACCA	0.711000													19	26					0	0	1	0	0
C2orf49	79074	broad.mit.edu	37	2	105954045	105954045	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:105954045A>G	ENST00000437250.2	+	1	230	c.115A>G	c.(115-117)Atg>Gtg	p.M39V	C2orf49_ENST00000410049.1_Start_Codon_SNP_p.M1V|C2orf49_ENST00000258457.2_Start_Codon_SNP_p.M1V			Q9BVC5	ASHWN_HUMAN	chromosome 2 open reading frame 49	1						tRNA-splicing ligase complex				endometrium(1)|kidney(1)|large_intestine(3)|lung(1)	6						GGCGACGACCATGGCGGGGGA	0.652000													16	16					0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40847736	40847736	+	Missense_Mutation	SNP	C	C	T	rs143542325		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:40847736C>T	ENST00000264638.4	+	19	3407	c.3190C>T	c.(3190-3192)Cgg>Tgg	p.R1064W	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	1064					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGACTACCCCCGGCCTGGTCG	0.657000													27	46					0	0	1	0	0
BMX	660	broad.mit.edu	37	X	15568067	15568067	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:15568067C>A	ENST00000357607.2	+	18	2088	c.1900C>A	c.(1900-1902)Ccc>Acc	p.P634T	BMX_ENST00000342014.6_Missense_Mutation_p.P634T|BMX_ENST00000348343.6_Missense_Mutation_p.P634T			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	634	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCTTTACCGGCCCCACCTGGC	0.587000													64	30					3.8688e-20	5.83574e-20	1	1	0
MAP2K4	6416	broad.mit.edu	37	17	12043179	12043179	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:12043179G>C	ENST00000415385.3	+	11	1150	c.1097G>C	c.(1096-1098)aGg>aCg	p.R366T	MAP2K4_ENST00000353533.5_Missense_Mutation_p.R355T			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	355	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(2)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GAATCCAAAAGGCCAAAGTAT	0.363000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								44	14					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103173822	103173822	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:103173822G>T	ENST00000375735.2	+	76	11240	c.11095_splice	c.e76-1	p.G3699_splice	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.G3706_splice	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3699	AAA 6 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		tatattttaGGACTGAAAGAG	0.294000													4	3					0.00909568	0.00930313	1	1	0
MS4A2	2206	broad.mit.edu	37	11	59861506	59861506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:59861506G>T	ENST00000278888.3	+	6	709	c.607G>T	c.(607-609)Gga>Tga	p.G203*		NM_000139.4	NP_000130.1	Q01362	FCERB_HUMAN	membrane-spanning 4-domains, subfamily A, member 2	203					cell proliferation|humoral immune response	integral to plasma membrane	calcium channel activity			endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)	17		all_epithelial(135;0.245)			Omalizumab(DB00043)	CACAATCTGTGGAGCTGGGGA	0.383000													8	21					1.06961e-07	1.27262e-07	1	1	0
MIR206	406989	broad.mit.edu	37	6	52009181	52009181	+	RNA	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:52009181A>G	ENST00000384872.1	+	0	35					NR_029713.1																						TTATATCCCCATATGGATTAC	0.542000													17	18					0	0	1	0	0
GABRA1	2554	broad.mit.edu	37	5	161324408	161324408	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:161324408G>T	ENST00000428797.2	+	11	1706	c.1351G>T	c.(1351-1353)Gcc>Tcc	p.A451S	GABRA1_ENST00000023897.6_Missense_Mutation_p.A451S|GABRA1_ENST00000437025.2_Missense_Mutation_p.A451S|GABRA1_ENST00000420560.1_Missense_Mutation_p.A451S|GABRA1_ENST00000444819.1_Missense_Mutation_p.A451S|GABRA1_ENST00000393943.4_Missense_Mutation_p.A451S	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	451					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TCAGCTAAAAGCCCCCACACC	0.418000													14	43					0.000219431	0.000234947	1	1	0
PTPRU	10076	broad.mit.edu	37	1	29630484	29630484	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:29630484G>A	ENST00000373779.3	+	16	2723	c.2594G>A	c.(2593-2595)cGt>cAt	p.R865H	PTPRU_ENST00000356870.3_Missense_Mutation_p.R865H|PTPRU_ENST00000345512.3_Missense_Mutation_p.R875H|PTPRU_ENST00000323874.8_Missense_Mutation_p.R865H|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Missense_Mutation_p.R865H|PTPRU_ENST00000428026.2_Missense_Mutation_p.R865H	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	875	Mediates interaction with CTNNB1 (By similarity).				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)		CCTGCGGTGCGTGTCGCAGAC	0.682000													33	68					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158298764	158298764	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:158298764T>C	ENST00000368168.3	-	5	1034	c.927A>G	c.(925-927)atA>atG	p.I309M		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	309					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					AGGAAGGCACTATTATTGCCA	0.418000													9	13					0	0	1	0	0
LST3	0	broad.mit.edu	37	12	21242857	21242857	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:21242857C>A	ENST00000540229.1	+	16	2129	c.2064C>A	c.(2062-2064)ggC>ggA	p.G688G	SLCO1B3_ENST00000553473.1_Silent_p.G688G|LST3_ENST00000381541.3_Silent_p.G627G|SLCO1B7_ENST00000421593.2_Silent_p.G580G|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.G627G														p.G580G(1)									CCTTCTTCGGCTTGAAGGTAG	0.299000													5	6					1.024e-07	1.22209e-07	1	1	0
BAI3	577	broad.mit.edu	37	6	70070860	70070860	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:70070860C>A	ENST00000370598.1	+	29	4516	c.3695C>A	c.(3694-3696)cCt>cAt	p.P1232H	BAI3_ENST00000238918.8_Missense_Mutation_p.P438H|BAI3_ENST00000546190.1_Missense_Mutation_p.P196H	NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1232					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GGAACAAACCCTGAAGGGCTA	0.423000													13	19					7.93312e-07	9.17661e-07	1	1	0
C1orf87	127795	broad.mit.edu	37	1	60456394	60456394	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:60456394C>G	ENST00000371201.3	-	12	1699	c.1592G>C	c.(1591-1593)gGa>gCa	p.G531A	C1orf87_ENST00000486478.1_5'UTR|C1orf87_ENST00000450089.2_Missense_Mutation_p.G302A|C1orf87_ENST00000395552.1_Missense_Mutation_p.G165A	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	531							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CATATTTTCTCCCGAACGGAA	0.473000													91	91					0	0	1	0	0
TIGD5	84948	broad.mit.edu	37	8	144681377	144681377	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:144681377G>T	ENST00000504548.2	+	1	1304	c.1304G>T	c.(1303-1305)cGa>cTa	p.R435L	TIGD5_ENST00000321385.3_Missense_Mutation_p.R386L	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	435					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GAGCTGCTGCGACTGGCTGTG	0.647000													11	21					2.68362e-12	3.5558e-12	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25490644	25490644	+	RNA	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:25490644T>A	ENST00000453082.2	+	0	2719				SNORD115-41_ENST00000363608.1_RNA	NR_003343.1																						ATGAGAACCTTCTATTGTCCT	0.512000													142	88					0	0	1	0	0
KLHL7	55975	broad.mit.edu	37	7	23213686	23213686	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:23213686G>T	ENST00000322231.7	+	12	1954	c.1464G>T	c.(1462-1464)atG>atT	p.M488I	KLHL7_ENST00000409689.1_Missense_Mutation_p.M462I|KLHL7_ENST00000339077.4_Missense_Mutation_p.M510I|KLHL7_ENST00000545443.1_Missense_Mutation_p.M488I|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000539124.1_Missense_Mutation_p.M434I|KLHL7_ENST00000542558.1_Missense_Mutation_p.M285I			Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7	510						Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AATGGAAGATGGTCTCACCAA	0.388000													43	38					8.20599e-20	1.2362e-19	1	1	0
OR8U1	219417	broad.mit.edu	37	11	56143282	56143282	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:56143282C>A	ENST00000302270.1	+	1	183	c.183C>A	c.(181-183)ttC>ttA	p.F61L		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					CAATGTACTTCTTTCTTAGCA	0.383000													32	44					5.60225e-13	7.5256e-13	1	1	0
CNST	163882	broad.mit.edu	37	1	246754854	246754854	+	Translation_Start_Site	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:246754854A>T	ENST00000366513.4	+	0	259				CNST_ENST00000366512.3_De_novo_Start_OutOfFrame|CNST_ENST00000483271.1_3'UTR	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein						positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GGTTCACCAAAGGATGCTCTA	0.388000													25	44					0	0	1	0	0
ZNF252P	286101	broad.mit.edu	37	8	146202659	146202659	+	RNA	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:146202659C>T	ENST00000426361.2	-	0	1525					NR_023392.1															endometrium(1)	1						TTTCCACACTCATTGCAGATA	0.393000													2	1					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30703455	30703455	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:30703455C>T	ENST00000256246.2	-	1	3153	c.3079G>A	c.(3079-3081)Ggc>Agc	p.G1027S		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1027										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GGTAATGGGCCCTTTCTTTCT	0.333000													7	20					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196636407	196636407	+	Missense_Mutation	SNP	C	C	A	rs113133988		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:196636407C>A	ENST00000312428.6	-	61	11510	c.11410G>T	c.(11410-11412)Gta>Tta	p.V3804L	DNAH7_ENST00000409063.1_Missense_Mutation_p.V287L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3804					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.V3804L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGAATATTTACGCACGAATCT	0.353000													23	52					6.21321e-17	9.07845e-17	1	1	0
DAOA	267012	broad.mit.edu	37	13	106125025	106125025	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:106125025C>A	ENST00000329625.5	+	3	337	c.59C>A	c.(58-60)cCc>cAc	p.P20H	DAOA-AS1_ENST00000448407.1_RNA|DAOA_ENST00000375936.3_Missense_Mutation_p.P91H			P59103	DAOA_HUMAN	D-amino acid oxidase activator	91						Golgi apparatus				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	13	Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTTCCTCAGCCCTATGCAGAG	0.403000													12	15					7.03913e-09	8.69451e-09	1	1	0
MICAL2	9645	broad.mit.edu	37	11	12183738	12183738	+	Silent	SNP	G	G	T	rs142020972		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:12183738G>T	ENST00000256194.4	+	3	324	c.36G>T	c.(34-36)gcG>gcT	p.A12A	MICAL2_ENST00000527546.1_Silent_p.A12A|MICAL2_ENST00000342902.5_Silent_p.A12A|MICAL2_ENST00000379612.3_Silent_p.A12A|MICAL2_ENST00000537344.1_Silent_p.A12A	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	12						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGGCCCAGGCGGGGCAGGTTT	0.572000													19	14					8.28177e-16	1.19364e-15	1	1	0
C3orf58	205428	broad.mit.edu	37	3	143691784	143691784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:143691784C>T	ENST00000315691.3	+	1	1145	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	C3orf58_ENST00000493396.1_3'UTR	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	204						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGAGCGCATGCAGCTGCTGCT	0.701000													3	12					0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31358376	31358376	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:31358376G>A	ENST00000542188.1	-	6	1057	c.744C>T	c.(742-744)ttC>ttT	p.F248F	TRPM1_ENST00000397795.2_Silent_p.F209F|TRPM1_ENST00000256552.6_Silent_p.F231F	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	209					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CAGCCAGGATGAAGTGGGTGT	0.522000													10	51					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136112985	136112985	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:136112985G>T	ENST00000298110.1	-	1	848	c.849C>A	c.(847-849)agC>agA	p.S283R		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	283						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TGGCCTTCAGGCTGCCGTCCT	0.607000													105	37					8.16033e-55	1.37499e-54	1	1	0
TAF5L	27097	broad.mit.edu	37	1	229730442	229730442	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:229730442C>A	ENST00000258281.2	-	5	1537	c.1372G>T	c.(1372-1374)Ggg>Tgg	p.G458W	TAF5L_ENST00000366676.1_Missense_Mutation_p.G458W	NM_014409.3	NP_055224.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	458					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				ACCGAGTTCCCCTGCTGAGCG	0.587000													83	104					1.91593e-42	3.18684e-42	1	1	0
RNF139	11236	broad.mit.edu	37	8	125487417	125487417	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:125487417G>T	ENST00000303545.3	+	1	439	c.67G>T	c.(67-69)Gaa>Taa	p.E23*		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	23					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCGGCGCTCGAAGTGGCGCT	0.672000													32	56					2.70662e-09	3.36811e-09	1	1	0
IFT74	80173	broad.mit.edu	37	9	26990141	26990141	+	Missense_Mutation	SNP	C	C	G	rs150219690	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:26990141C>G	ENST00000443698.1	+	8	706	c.535C>G	c.(535-537)Caa>Gaa	p.Q179E	IFT74_ENST00000429045.2_Missense_Mutation_p.Q179E|IFT74_ENST00000433700.1_Missense_Mutation_p.Q179E|IFT74_ENST00000380062.5_Missense_Mutation_p.Q179E	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	179						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GCTTAAAGCTCAAAATGATCG	0.264000													5	1					0	0	1	0	0
TRIM36	55521	broad.mit.edu	37	5	114472804	114472804	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:114472804T>C	ENST00000513154.1	-	7	1429	c.1103A>G	c.(1102-1104)gAa>gGa	p.E368G	TRIM36_ENST00000514154.1_Missense_Mutation_p.E225G|TRIM36_ENST00000282369.3_Missense_Mutation_p.E380G			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	380	COS.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CTTCAAAGATTCTGTGGCTTT	0.308000													5	9					0	0	1	0	0
RAPH1	65059	broad.mit.edu	37	2	204304470	204304470	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:204304470A>T	ENST00000319170.5	-	14	3742	c.3443T>A	c.(3442-3444)gTg>gAg	p.V1148E	RAPH1_ENST00000457812.1_Intron|RAPH1_ENST00000374493.3_Missense_Mutation_p.V1200E	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1148					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CACTTGTGGCACAACTGTGGC	0.557000													34	58					0	0	1	0	0
FLRT2	23768	broad.mit.edu	37	14	86088637	86088637	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:86088637A>T	ENST00000330753.4	+	2	1546	c.779A>T	c.(778-780)cAg>cTg	p.Q260L	FLRT2_ENST00000554746.1_Missense_Mutation_p.Q260L	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	260					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTCTATTTGCAGGACAACCAG	0.483000													60	25					0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88652178	88652178	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:88652178C>G	ENST00000340700.5	-	7	1769	c.1318G>C	c.(1318-1320)Gag>Cag	p.E440Q	KCNK10_ENST00000312350.5_Missense_Mutation_p.E445Q|KCNK10_ENST00000319231.5_Missense_Mutation_p.E445Q	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	440					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						ATGTTGTCCTCGGACGCACCC	0.557000													48	67					0	0	1	0	0
ASH1L	55870	broad.mit.edu	37	1	155451143	155451143	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:155451143G>C	ENST00000368346.3	-	3	2157	c.1518C>G	c.(1516-1518)ttC>ttG	p.F506L	ASH1L_ENST00000392403.3_Missense_Mutation_p.F506L			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	506					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CACTGGATGAGAAACTGTCTT	0.368000													8	27					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121262880	121262880	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:121262880T>G	ENST00000297848.3	+	22	2897	c.2627T>G	c.(2626-2628)tTt>tGt	p.F876C	COL14A1_ENST00000309791.4_Missense_Mutation_p.F876C|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.F781C	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	876	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CTGGAAACGTTTGTGGGAGCT	0.408000													20	32					0	0	1	0	0
CSNK2A2	1459	broad.mit.edu	37	16	58220672	58220672	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:58220672A>T	ENST00000262506.3	-	3	488	c.305T>A	c.(304-306)gTa>gAa	p.V102E	CSNK2A2_ENST00000566813.1_5'UTR	NM_001896.2	NP_001887.1	P19784	CSK22_HUMAN	casein kinase 2, alpha prime polypeptide	102	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|nucleus	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			central_nervous_system(1)	1						GGGGTCCTTTACAGTGTCAAT	0.428000													35	8					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42150892	42150892	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:42150892C>A	ENST00000320955.6	-	49	8361	c.8134G>T	c.(8134-8136)Gac>Tac	p.D2712Y		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2712					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATGGCTGTGTCCAGCAAACCC	0.627000													6	12					0.0215528	0.0219098	1	1	0
DLG4	1742	broad.mit.edu	37	17	7100242	7100242	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:7100242T>A	ENST00000399510.2	-	11	1898	c.1046A>T	c.(1045-1047)gAc>gTc	p.D349V	DLG4_ENST00000302955.6_Missense_Mutation_p.D303V|DLG4_ENST00000399506.2_Missense_Mutation_p.D306V	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	306	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TCGGGGAATGTCTTCCTCCCC	0.632000													17	2					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130832599	130832599	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:130832599G>T	ENST00000357462.5	-	15	2539	c.2446C>A	c.(2446-2448)Cgc>Agc	p.R816S	POTEF_ENST00000409914.2_Missense_Mutation_p.R816S			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	816	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						ATCTTCTCGCGGTTGGCCTTA	0.597000													65	117					4.90955e-16	7.11123e-16	1	1	0
NEB	4703	broad.mit.edu	37	2	152521350	152521350	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:152521350C>A	ENST00000397345.3	-	43	5468	c.5266G>T	c.(5266-5268)Gac>Tac	p.D1756Y	NEB_ENST00000172853.10_Missense_Mutation_p.D1756Y|NEB_ENST00000603639.1_Missense_Mutation_p.D1756Y|NEB_ENST00000427231.2_Missense_Mutation_p.D1756Y|NEB_ENST00000409198.1_Missense_Mutation_p.D1756Y|NEB_ENST00000604864.1_Missense_Mutation_p.D1756Y	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	1756					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTGGTCTTGTCCTTGTTCCAT	0.423000													5	6					0.014758	0.015055	1	1	0
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:21806573A>G	ENST00000318220.6	+	14	2118	c.1070A>G	c.(1069-1071)gAg>gGg	p.E357G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 2.					cytoplasm		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463000													3	17					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44926436	44926436	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:44926436A>T	ENST00000429094.2	-	16	2236	c.1732T>A	c.(1732-1734)Tgg>Agg	p.W578R	NELL2_ENST00000549027.1_Missense_Mutation_p.W577R|NELL2_ENST00000395487.2_Missense_Mutation_p.W577R|NELL2_ENST00000452445.2_Missense_Mutation_p.W578R|NELL2_ENST00000333837.4_Missense_Mutation_p.W601R|NELL2_ENST00000551601.1_Intron|NELL2_ENST00000437801.2_Missense_Mutation_p.W628R	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	578	EGF-like 5; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CAGTGGTACCATCCAGGCAGG	0.408000													20	44					0	0	1	0	0
PTP4A1	7803	broad.mit.edu	37	6	64288802	64288802	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:64288802G>T	ENST00000370651.3	+	4	1351		c.e4-1		PTP4A1_ENST00000370650.2_Splice_Site	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1						cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			TTCTGACTTAGGATTGGCCTT	0.318000													7	20					0.0477658	0.0482625	1	1	0
BTN2A3P	54718	broad.mit.edu	37	6	26423303	26423303	+	RNA	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:26423303G>T	ENST00000466808.2	+	0	222																											CCCCTGCAGTGTTTGTGTATA	0.547000													43	33					2.2871e-25	3.6086e-25	1	1	0
RAP1GAP	5909	broad.mit.edu	37	1	21936134	21936134	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:21936134A>G	ENST00000542643.2	-	16	1307	c.1005T>C	c.(1003-1005)tcT>tcC	p.S335S	RAP1GAP_ENST00000290101.4_Silent_p.S399S|RAP1GAP_ENST00000374763.2_Silent_p.S335S|RAP1GAP_ENST00000374761.2_Silent_p.S366S|RAP1GAP_ENST00000374765.4_Silent_p.S335S	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	335	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TTGCAGTGACAGAGACCTGGA	0.647000													36	58					0	0	1	0	0
ADD2	119	broad.mit.edu	37	2	70933550	70933550	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:70933550G>T	ENST00000430656.1	-	2	336	c.39C>A	c.(37-39)ccC>ccA	p.P13P	ADD2_ENST00000473232.1_5'UTR|ADD2_ENST00000264436.3_5'UTR|ADD2_ENST00000407644.2_5'UTR|ADD2_ENST00000413157.2_5'UTR|ADD2_ENST00000355733.3_5'UTR	NM_001185055.1	NP_001171984.1	P35612	ADDB_HUMAN	adducin 2 (beta)	0					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TTTTCCCGGTGGGTTTGCAAT	0.622000													43	59					8.01111e-26	1.26571e-25	1	1	0
COL6A6	131873	broad.mit.edu	37	3	130282481	130282481	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:130282481G>T	ENST00000358511.6	+	2	665	c.634G>T	c.(634-636)Gga>Tga	p.G212*	COL6A6_ENST00000453409.2_Nonsense_Mutation_p.G212*	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	212	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GTACAAGGAGGGAGCAGTTGA	0.393000													17	24					3.99206e-14	5.54136e-14	1	1	0
AFM	173	broad.mit.edu	37	4	74349987	74349987	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:74349987A>G	ENST00000226355.3	+	3	243	c.150A>G	c.(148-150)gcA>gcG	p.A50A		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	50	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATCATTGCATTTGCTCAGT	0.423000													10	25					0	0	1	0	0
AMER1	139285	broad.mit.edu	37	X	63412081	63412081	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:63412081C>T	ENST00000330258.3	-	2	1358	c.1086G>A	c.(1084-1086)ctG>ctA	p.L362L	AMER1_ENST00000403336.1_Silent_p.L362L|AMER1_ENST00000374869.3_Silent_p.L362L	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									GGTAGGTCACCAGGCAGGAAC	0.537000													40	64					0	0	1	0	0
MTFR2	113115	broad.mit.edu	37	6	136562751	136562751	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:136562751C>A	ENST00000420702.1	-	5	734	c.345G>T	c.(343-345)cgG>cgT	p.R115R	MTFR2_ENST00000451457.2_Silent_p.R115R	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		ACAGTGGATCCCGAACTAGTC	0.378000													12	15					4.93089e-13	6.65442e-13	1	1	0
KRTAP13-1	140258	broad.mit.edu	37	21	31768760	31768760	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:31768760C>T	ENST00000355459.2	+	1	369	c.356C>T	c.(355-357)tCa>tTa	p.S119L		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	119						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCTGCTACTCAGTGGGCTGT	0.592000													14	37					0	0	1	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161147009	161147009	+	RNA	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:161147009A>G	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CCGAATCAGGATGTTGACCTT	0.438000													6	63					0	0	1	0	0
MIOS	54468	broad.mit.edu	37	7	7612605	7612605	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:7612605G>C	ENST00000340080.4	+	4	920	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	MIOS_ENST00000405785.1_Missense_Mutation_p.E167Q	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	167								p.E167K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCAGCAGGTGAAACTGAAAC	0.383000													7	15					0	0	1	0	0
SLIT2	9353	broad.mit.edu	37	4	20611679	20611679	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:20611679C>G	ENST00000504154.1	+	34	3988	c.3736C>G	c.(3736-3738)Ctt>Gtt	p.L1246V	SLIT2_ENST00000503837.1_Missense_Mutation_p.L1242V|SLIT2_ENST00000503823.1_Missense_Mutation_p.L1238V|SLIT2_ENST00000273739.5_Missense_Mutation_p.L1259V	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1246	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGTGGAACTACTTGCCTTGGA	0.408000													15	23					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106513315	106513315	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:106513315A>T	ENST00000359195.3	+	4	2529	c.2219A>T	c.(2218-2220)gAg>gTg	p.E740V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.E740V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.E740V	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	740					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAAGTAATCGAGATGTTACAA	0.458000													33	55					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	73000426	73000426	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:73000426G>C	ENST00000521978.1	+	25	3599	c.3599G>C	c.(3598-3600)aGa>aCa	p.R1200T	RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000520567.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1200					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GCAGCCCCAAGAGCAACTGAT	0.468000													7	16					0	0	1	0	0
ZNF100	163227	broad.mit.edu	37	19	21910334	21910334	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:21910334G>A	ENST00000358296.6	-	5	978	c.780C>T	c.(778-780)ccC>ccT	p.P260P	ZNF100_ENST00000305570.6_Silent_p.P196P	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CACATTTGTAGGGTTTCTCTC	0.388000													18	8					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152821831	152821831	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:152821831G>A	ENST00000370186.1	+	13	2565	c.2239G>A	c.(2239-2241)Gtg>Atg	p.V747M	ATP2B3_ENST00000263519.4_Missense_Mutation_p.V761M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.V761M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V761M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V747M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.V747M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	761					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAAGCTGAGGGTGCTGGCCCG	0.657000													4	3					0	0	1	0	0
MAG	4099	broad.mit.edu	37	19	35786760	35786760	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:35786760G>C	ENST00000361922.4	+	4	441	c.291G>C	c.(289-291)ctG>ctC	p.L97L	MAG_ENST00000537831.2_Silent_p.L72L|MAG_ENST00000597035.1_Intron|MAG_ENST00000392213.3_Silent_p.L97L	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	97	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACCTGGGCCTGCGAAACTGCA	0.647000													351	69					0	0	1	0	0
ARNT2	9915	broad.mit.edu	37	15	80867376	80867376	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:80867376G>T	ENST00000533983.1	+	15	1744	c.1405G>T	c.(1405-1407)Gtg>Ttg	p.V469L	ARNT2_ENST00000303329.4_Missense_Mutation_p.V480L|ARNT2_ENST00000527771.1_Missense_Mutation_p.V469L			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	480					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CGGGAAGTCCGTGGAAAAGGC	0.478000													25	80					1.17739e-12	1.57256e-12	1	1	0
LZTS1	11178	broad.mit.edu	37	8	20107619	20107619	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:20107619T>A	ENST00000381569.1	-	4	1762	c.1405A>T	c.(1405-1407)Aac>Tac	p.N469Y	LZTS1_ENST00000522290.1_Intron|LZTS1_ENST00000265801.6_Missense_Mutation_p.N469Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	469					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCAGCAGGTTCACCTTCTCC	0.706000													48	40					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145139778	145139778	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:145139778G>T	ENST00000355091.4	+	8	1285	c.1164_splice	c.e8+1	p.K388_splice	GPAA1_ENST00000361036.6_Splice_Site_p.K328_splice	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	388					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGGTCTCAAGATATCCTCTG	0.602000													23	168					7.87624e-14	1.0907e-13	1	1	0
ACO2	50	broad.mit.edu	37	22	41865168	41865168	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:41865168A>G	ENST00000396512.3	+	1	35	c.18A>G	c.(16-18)ctA>ctG	p.L6L	ACO2_ENST00000216254.4_Silent_p.L6L			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	6					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	p.L6L(1)		breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCTACAGCCTACTGGTGACTC	0.647000													31	36					0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455571	62455571	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:62455571C>G	ENST00000317449.4	-	2	887	c.410G>C	c.(409-411)aGa>aCa	p.R137T		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	137	Fibronectin type-III.					integral to membrane				cervix(1)|kidney(1)	2						CAGTTCGGCTCTGCGGACCGT	0.672000													14	25					0	0	1	0	0
ZNF420	147923	broad.mit.edu	37	19	37619293	37619293	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:37619293G>A	ENST00000337995.3	+	5	1615	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	ZNF420_ENST00000304239.7_Missense_Mutation_p.R467Q|ZNF585A_ENST00000588723.1_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CAACATGAGCGAATTCACACA	0.418000													74	8					0	0	1	0	0
RNF103	7844	broad.mit.edu	37	2	86831549	86831549	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:86831549C>T	ENST00000237455.4	-	4	2443	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	492					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GAAAGCTAAGCGCTCCAAGAA	0.443000													9	77					0	0	1	0	0
PPIB	5479	broad.mit.edu	37	15	64452333	64452333	+	Nonsense_Mutation	SNP	C	C	A	rs137853866		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:64452333C>A	ENST00000300026.3	-	3	531	c.313G>T	c.(313-315)Gga>Tga	p.G105*	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	105	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	GTGAAGTCTCCGCCCTGGATC	0.512000													22	12					9.57634e-11	1.23245e-10	1	1	0
BRCA2	675	broad.mit.edu	37	13	32953976	32953976	+	Nonsense_Mutation	SNP	A	A	T	rs80359736		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:32953976A>T	ENST00000544455.1	+	23	9270	c.9043A>T	c.(9043-9045)Aaa>Taa	p.K3015*	BRCA2_ENST00000380152.3_Nonsense_Mutation_p.K3015*	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN	breast cancer 2, early onset	3015					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGCAACTTCAAAATCTAAAAG	0.328000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			4	10					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262532	45262532	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:45262532G>T	ENST00000303230.4	-	8	2221	c.2164C>A	c.(2164-2166)Ccc>Acc	p.P722T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	722						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P722S(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAGGCGGTGGGGGAGGCATAG	0.662000													10	36					0.00621372	0.00637781	1	1	0
GLS	2744	broad.mit.edu	37	2	191792096	191792096	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:191792096G>T	ENST00000320717.3	+	12	1571	c.1313G>T	c.(1312-1314)gGt>gTt	p.G438V	GLS_ENST00000409626.1_Missense_Mutation_p.G9V|GLS_ENST00000338435.4_Missense_Mutation_p.G438V	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	438					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCTAATGGTGGTTTCTGCCCA	0.448000													11	23					3.07112e-06	3.49699e-06	1	1	0
MAGEE1	57692	broad.mit.edu	37	X	75649195	75649195	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:75649195G>A	ENST00000361470.2	+	1	1150	c.872G>A	c.(871-873)gGa>gAa	p.G291E		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	291	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CGCGGTAAGGGATCAAGCACC	0.701000													13	27					0	0	1	0	0
ZHX1	11244	broad.mit.edu	37	8	124268027	124268027	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:124268027C>T	ENST00000395571.3	-	3	777	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ZHX1_ENST00000522595.1_5'UTR|ZHX1_ENST00000297857.2_Missense_Mutation_p.E54K|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.E54K	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	54					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TCCACAGATTCATGAACCTCT	0.358000													35	35					0	0	1	0	0
MYO9B	4650	broad.mit.edu	37	19	17306108	17306108	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:17306108C>T	ENST00000595618.1	+	22	4024	c.3872C>T	c.(3871-3873)cCc>cTc	p.P1291L	MYO9B_ENST00000594824.1_Missense_Mutation_p.P1291L|MYO9B_ENST00000397274.2_Missense_Mutation_p.P1291L	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1291	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCCGACAGCCCCGGAGGCTCC	0.706000													43	14					0	0	1	0	0
RBBP8	5932	broad.mit.edu	37	18	20573238	20573238	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:20573238G>C	ENST00000399722.2	+	11	1799	c.1448G>C	c.(1447-1449)gGa>gCa	p.G483A	RBBP8_ENST00000327155.5_Missense_Mutation_p.G483A|RBBP8_ENST00000399725.2_Missense_Mutation_p.G483A|RBBP8_ENST00000360790.5_Missense_Mutation_p.G483A	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	483					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TCCATGAATGGAGACTGTGTG	0.388000								Homologous recombination					14	5					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120499907	120499907	+	Missense_Mutation	SNP	G	G	C	rs140000454		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:120499907G>C	ENST00000283875.5	+	5	1003	c.910G>C	c.(910-912)Gca>Cca	p.A304P		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	304					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AGATATGGACGCATTTCAGGA	0.428000													16	20					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47552430	47552430	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:47552430C>A	ENST00000300527.4	+	28	3128	c.3024C>A	c.(3022-3024)ccC>ccA	p.P1008P		NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	1008	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGCGCAACCCGGCTTCTTCG	0.687000													12	23					3.07112e-06	3.49699e-06	1	1	0
MAD1L1	8379	broad.mit.edu	37	7	2252891	2252891	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:2252891C>A	ENST00000406869.1	-	10	1499	c.942G>T	c.(940-942)ctG>ctT	p.L314L	MAD1L1_ENST00000402746.1_Silent_p.L222L|MAD1L1_ENST00000486340.1_5'UTR|MAD1L1_ENST00000399654.2_Silent_p.L314L|MAD1L1_ENST00000265854.7_Silent_p.L314L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	314					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		CCCAGCTTTGCAGCTTGGCCA	0.552000													23	15					1.37878e-21	2.11534e-21	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144931680	144931680	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:144931680C>A	ENST00000529945.1	-	1	468	c.29G>T	c.(28-30)cGa>cTa	p.R10L	PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R10L|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACACAGCTCTCGGGCACAGAT	0.622000			T	PDGFRB	MPD								16	89					9.16793e-09	1.12524e-08	1	1	0
ARMC9	80210	broad.mit.edu	37	2	232209773	232209773	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:232209773C>T	ENST00000349938.4	+	21	2159	c.1965C>T	c.(1963-1965)acC>acT	p.T655T	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	655							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGCCCGTCACCCCCGGCGGCC	0.537000													46	101					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121498470	121498470	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:121498470G>T	ENST00000260197.7	+	47	6700	c.6571G>T	c.(6571-6573)Gac>Tac	p.D2191Y	SORL1_ENST00000532694.1_Missense_Mutation_p.D1037Y|SORL1_ENST00000527934.1_Missense_Mutation_p.D806Y|SORL1_ENST00000534286.1_Missense_Mutation_p.D1101Y|SORL1_ENST00000525532.1_Missense_Mutation_p.D1135Y	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2191					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CTCTGGGGATGACCTGGGTAA	0.602000													7	19					2.0095e-06	2.30618e-06	1	1	0
ATP10B	23120	broad.mit.edu	37	5	159992723	159992723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:159992723G>A	ENST00000327245.5	-	26	4969	c.4123C>T	c.(4123-4125)Cag>Tag	p.Q1375*		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1375					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAAGTCCTGTCCTGTGATA	0.547000													37	100					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56043655	56043655	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:56043655T>C	ENST00000313033.2	+	1	627	c.541T>C	c.(541-543)Tgt>Cgt	p.C181R		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					CCTGTCCTTCTGTGGATCCAA	0.413000													33	47					0	0	1	0	0
GNAS	2778	broad.mit.edu	37	20	57429579	57429579	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:57429579C>A	ENST00000371100.4	+	1	1811	c.1259C>A	c.(1258-1260)cCt>cAt	p.P420H	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371102.4_Missense_Mutation_p.P420H|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.P420H|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.L357M	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCAGCCGATCCTGACTCCGGG	0.731000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)			6	6					0.00116845	0.00122299	1	1	0
STK40	83931	broad.mit.edu	37	1	36824430	36824430	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:36824430C>A	ENST00000373130.3	-	3	294	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	STK40_ENST00000359297.2_Intron|STK40_ENST00000482458.1_5'UTR|STK40_ENST00000373129.3_Intron|STK40_ENST00000373132.3_Intron			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	37	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GGACCTACGGCACAGAGAGCT	0.542000													20	28					8.00594e-06	8.95007e-06	1	1	0
SF3B1	23451	broad.mit.edu	37	2	198274703	198274703	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:198274703C>T	ENST00000335508.5	-	7	786	c.695G>A	c.(694-696)tGg>tAg	p.W232*		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	232	Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTCTCATCCCATCTTAAGGA	0.433000			Mis		myelodysplastic syndrome								17	41					0	0	1	0	0
RHO	6010	broad.mit.edu	37	3	129251438	129251438	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:129251438G>T	ENST00000296271.3	+	4	853	c.759G>T	c.(757-759)atG>atT	p.M253I		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	253					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	TCACCCGCATGGTCATCATCA	0.612000													42	35					4.32679e-17	6.33799e-17	1	1	0
RP1L1	94137	broad.mit.edu	37	8	10468122	10468122	+	Missense_Mutation	SNP	G	G	C	rs112361777		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:10468122G>C	ENST00000382483.3	-	4	3709	c.3486C>G	c.(3484-3486)gaC>gaG	p.D1162E		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1162					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCCCCAACGTCACATCCTG	0.597000													18	25					0	0	1	0	0
MMP1	4312	broad.mit.edu	37	11	102661500	102661500	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:102661500G>A	ENST00000315274.6	-	9	1301	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	412	Hemopexin-like 3.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		ATCATTTTGGGATAACCTGGA	0.363000													15	20					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226574074	226574074	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:226574074C>A	ENST00000366794.5	-	6	930	c.787G>T	c.(787-789)Gag>Tag	p.E263*		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	263					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding	p.E263K(1)		breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		ATGAGTAGCTCCTTCAGGTCA	0.527000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					25	42					4.26978e-12	5.63185e-12	1	1	0
GABRG2	2566	broad.mit.edu	37	5	161569249	161569249	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:161569249C>A	ENST00000356592.3	+	7	1309	c.849C>A	c.(847-849)tgC>tgA	p.C283*	GABRG2_ENST00000393933.4_Nonsense_Mutation_p.C188*|GABRG2_ENST00000361925.4_Nonsense_Mutation_p.C283*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.C323*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	283					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATATCCCCTGCACACTCATTG	0.438000													11	32					1.50538e-07	1.782e-07	1	1	0
ADAMTSL2	9719	broad.mit.edu	37	9	136403486	136403486	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:136403486G>C	ENST00000393061.3	+	4	1008	c.576G>C	c.(574-576)ccG>ccC	p.P192P	ADAMTSL2_ENST00000354484.4_Silent_p.P83P|ADAMTSL2_ENST00000393060.1_Silent_p.P83P			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	83					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		AGTCCGTCCCGGGCCCCGGGA	0.682000													47	16					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51901909	51901909	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:51901909C>G	ENST00000268919.4	+	1	1671	c.1515C>G	c.(1513-1515)gaC>gaG	p.D505E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	505					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGCTCCGGGACTCCTTTATAG	0.478000													15	23					0	0	1	0	0
TRPV3	162514	broad.mit.edu	37	17	3432260	3432260	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:3432260C>A	ENST00000301365.4	-	10	1403	c.1272G>T	c.(1270-1272)ccG>ccT	p.P424P	TRPV3_ENST00000572519.1_Silent_p.P424P|TRPV3_ENST00000576742.1_Silent_p.P424P			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	424						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GCGTGTGCAGCGGCTCCAGGG	0.522000													57	13					5.19286e-32	8.39788e-32	1	1	0
SLC39A12	221074	broad.mit.edu	37	10	18280167	18280167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:18280167G>T	ENST00000377369.2	+	8	1630	c.1357G>T	c.(1357-1359)Gga>Tga	p.G453*	SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.G319*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.G453*|SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.G453*	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	453					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GGGATTAATTGGAGGCATCCA	0.343000													11	18					4.68919e-08	5.64251e-08	1	1	0
IGDCC4	57722	broad.mit.edu	37	15	65702623	65702623	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:65702623C>A	ENST00000352385.2	-	3	665	c.456G>T	c.(454-456)caG>caT	p.Q152H		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	152	Ig-like C2-type 2.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						CCTCCACCGTCTGAGACTCCG	0.567000													8	35					0.000274275	0.000291793	1	1	0
CEBPZ	10153	broad.mit.edu	37	2	37455421	37455421	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:37455421C>T	ENST00000234170.5	-	2	1060	c.915G>A	c.(913-915)agG>agA	p.R305R		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	305					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				GGCTGAAAATCCTCAGCTTCC	0.433000													8	12					0	0	1	0	0
SAMD1	90378	broad.mit.edu	37	19	14199296	14199296	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:14199296T>A	ENST00000533683.2	-	5	1519	c.1232A>T	c.(1231-1233)gAg>gTg	p.E411V		NM_138352.1	NP_612361.1	Q6SPF0	SAMD1_HUMAN	sterile alpha motif domain containing 1	517						cytoplasm|extracellular region				endometrium(3)	3		Renal(1328;0.00183)|Hepatocellular(1079;0.00826)		GBM - Glioblastoma multiforme(1328;0.000411)|STAD - Stomach adenocarcinoma(1328;0.00644)|Lung(535;0.199)		GATGTGGTGCTCGTAGATTTT	0.592000													42	16					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125671838	125671838	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:125671838C>T	ENST00000431078.1	+	24	4258	c.3894C>T	c.(3892-3894)agC>agT	p.S1298S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1298					cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACACAGTGAGCGAGTGTAAAC	0.413000													7	18					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103163924	103163924	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:103163924C>A	ENST00000424685.2	-	47	7563	c.7404G>T	c.(7402-7404)caG>caT	p.Q2468H	RELN_ENST00000343529.5_Missense_Mutation_p.Q2468H|RELN_ENST00000428762.1_Missense_Mutation_p.Q2468H			P78509	RELN_HUMAN	reelin	2468					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGCCCATGTCTGCTGCTTGT	0.463000													33	78					5.6714e-07	6.59308e-07	1	1	0
TMPRSS15	5651	broad.mit.edu	37	21	19701494	19701494	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:19701494A>G	ENST00000284885.3	-	15	1805	c.1772T>C	c.(1771-1773)tTg>tCg	p.L591S		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	591	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACCTAAGAGCAAGGAATCAGC	0.323000													10	9					0	0	1	0	0
ZCCHC5	203430	broad.mit.edu	37	X	77913662	77913662	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:77913662G>C	ENST00000321110.1	-	2	551	c.256C>G	c.(256-258)Cag>Gag	p.Q86E		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	86	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGTGGCTTCTGGGGTTCCTTG	0.642000													9	5					0	0	1	0	0
DLGAP2	9228	broad.mit.edu	37	8	1575002	1575002	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:1575002G>T	ENST00000421627.2	+	4	1433	c.1299G>T	c.(1297-1299)caG>caT	p.Q433H		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	512					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGGAACCAGAGCTACATGA	0.642000													3	7					6.4e-05	6.97574e-05	1	1	0
CFHR4	10877	broad.mit.edu	37	1	196887427	196887427	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:196887427G>T	ENST00000367416.2	+	10	1762	c.1625G>T	c.(1624-1626)gGg>gTg	p.G542V	CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.G296V|CFHR4_ENST00000251424.4_Missense_Mutation_p.G296V	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GCAAAAACAGGGGATACCATT	0.318000													9	41					1.76689e-08	2.14604e-08	1	1	0
SLC17A3	10786	broad.mit.edu	37	6	25850766	25850766	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:25850766C>T	ENST00000397060.4	-	8	1023	c.914G>A	c.(913-915)aGc>aAc	p.S305N	SLC17A3_ENST00000361703.6_Missense_Mutation_p.S227N|SLC17A3_ENST00000360657.3_Missense_Mutation_p.S227N	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	227					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						CCATTGATGGCTGAAACAGCC	0.418000													26	25					0	0	1	0	0
RASGRF2	5924	broad.mit.edu	37	5	80409606	80409606	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:80409606A>G	ENST00000265080.4	+	15	2404	c.2337A>G	c.(2335-2337)ccA>ccG	p.P779P	CTD-2193P3.2_ENST00000508993.1_RNA	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	779					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		CTCCACCACCACACACTGGTC	0.552000													19	31					0	0	1	0	0
KAT8	84148	broad.mit.edu	37	16	31142140	31142140	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:31142140G>A	ENST00000543774.2	+	11	1566	c.1231G>A	c.(1231-1233)Ggc>Agc	p.G411S	KAT8_ENST00000219797.4_Missense_Mutation_p.G411S|KAT8_ENST00000448516.2_Missense_Mutation_p.G411S			Q9H7Z6	MYST1_HUMAN	K(lysine) acetyltransferase 8	411					histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex|MSL complex	histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding										GTACTGGAAGGGCCAGCACGT	0.522000													10	23					0	0	1	0	0
ISOC1	51015	broad.mit.edu	37	5	128440754	128440754	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:128440754G>T	ENST00000173527.5	+	2	431	c.415G>T	c.(415-417)Gtg>Ttg	p.V139L		NM_016048.2	NP_057132.2	Q96CN7	ISOC1_HUMAN	isochorismatase domain containing 1	139						peroxisome	catalytic activity			kidney(2)|lung(7)	9		all_cancers(142;0.0813)|Prostate(80;0.0865)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.138)|OV - Ovarian serous cystadenocarcinoma(64;0.164)		TATTATTAGCGTGGGACAGAG	0.358000													10	39					3.86212e-05	4.24833e-05	1	1	0
PCDHB5	26167	broad.mit.edu	37	5	140516074	140516074	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140516074G>A	ENST00000231134.5	+	1	1275	c.1058G>A	c.(1057-1059)aGc>aAc	p.S353N		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		353	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGCTCTCCAGCCCTACCCCA	0.522000													33	41					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45246106	45246106	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:45246106G>T	ENST00000263765.4	+	8	1432	c.1183G>T	c.(1183-1185)Ggg>Tgg	p.G395W	PRDM11_ENST00000424263.2_Missense_Mutation_p.G361W|PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.G395W			Q9NQV5	PRD11_HUMAN	PR domain containing 11	395										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						CCAGACCCAGGGGGAGGGGGA	0.562000													59	46					2.69953e-25	4.25359e-25	1	1	0
ADAD1	132612	broad.mit.edu	37	4	123317442	123317442	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:123317442A>T	ENST00000296513.2	+	7	819	c.634A>T	c.(634-636)Atc>Ttc	p.I212F	ADAD1_ENST00000388724.2_Missense_Mutation_p.I212F|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.I194F	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	212					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						GATTTCACAGATCGTTAAAGA	0.313000													15	8					0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136155	40136155	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:40136155G>C	ENST00000278198.2	-	2	3651	c.1688C>G	c.(1687-1689)aCa>aGa	p.T563R	LRRC4C_ENST00000527150.1_Missense_Mutation_p.T563R|LRRC4C_ENST00000530763.1_Missense_Mutation_p.T563R|LRRC4C_ENST00000528697.1_Missense_Mutation_p.T563R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	563					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AACAGTCCTTGTTGGGGCGTG	0.483000													14	29					0	0	1	0	0
VSTM2A	222008	broad.mit.edu	37	7	54617747	54617747	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:54617747G>T	ENST00000302287.3	+	4	924	c.518G>T	c.(517-519)cGc>cTc	p.R173L	VSTM2A_ENST00000498834.1_3'UTR|VSTM2A_ENST00000402026.2_Missense_Mutation_p.R172L|VSTM2A_ENST00000402613.3_Missense_Mutation_p.R173L|VSTM2A_ENST00000407838.3_Missense_Mutation_p.R173L|VSTM2A_ENST00000404951.1_Missense_Mutation_p.R173L			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	173						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			ATGAAGCCCCGCAAGAACGTC	0.587000													7	7					8.12818e-05	8.81624e-05	1	1	0
TKT	7086	broad.mit.edu	37	3	53275235	53275235	+	Silent	SNP	C	C	T	rs11556006		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:53275235C>T	ENST00000462138.1	-	3	340	c.252G>A	c.(250-252)gcG>gcA	p.A84A	TKT_ENST00000296289.6_Silent_p.A37A|TKT_ENST00000423516.1_Silent_p.A84A|TKT_ENST00000423525.2_Silent_p.A84A			P29401	TKT_HUMAN	transketolase	84					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CAGCCCAGACCGCGTAGAGGA	0.637000													9	21					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11696965	11696965	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:11696965T>A	ENST00000262442.3	+	42	8275	c.8207T>A	c.(8206-8208)cTc>cAc	p.L2736H	DNAH9_ENST00000454412.2_Missense_Mutation_p.L2736H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2736					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACAGAAGTGCTCAAGAAAACT	0.318000													18	8					0	0	1	0	0
FLCN	201163	broad.mit.edu	37	17	17120384	17120384	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:17120384C>A	ENST00000285071.4	-	10	1629	c.1176_splice	c.e10+1	p.R392_splice	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	392			R -> G (in a primary colorectal cancer; somatic mutation).		regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGTTCTCACCCGAAGTACTTC	0.582000									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				8	26					0.000157383	0.000169289	1	1	0
TOM1L1	10040	broad.mit.edu	37	17	52990140	52990140	+	Silent	SNP	A	A	T	rs141029614	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:52990140A>T	ENST00000575882.1	+	4	689	c.336A>T	c.(334-336)ccA>ccT	p.P112P	TOM1L1_ENST00000572405.1_Silent_p.P77P|TOM1L1_ENST00000570371.1_Silent_p.P112P|TOM1L1_ENST00000540336.1_Silent_p.P35P|TOM1L1_ENST00000575333.1_Silent_p.P112P|TOM1L1_ENST00000572158.1_Silent_p.P105P|TOM1L1_ENST00000536554.1_Silent_p.P35P|TOM1L1_ENST00000445275.2_Silent_p.P112P|TOM1L1_ENST00000348161.4_Silent_p.P35P	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	112	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ACAACTTGCCATTAGACATTC	0.353000													6	7					0	0	1	0	0
RNFT2	84900	broad.mit.edu	37	12	117290463	117290463	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:117290463G>A	ENST00000407967.3	+	11	1442	c.1209G>A	c.(1207-1209)ttG>ttA	p.L403L	RNFT2_ENST00000392549.2_3'UTR|RNFT2_ENST00000319176.7_3'UTR|RNFT2_ENST00000551251.1_3'UTR	NM_032814.3	NP_116203.2	Q96EX2	RNFT2_HUMAN	ring finger protein, transmembrane 2	0						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGATGCTGTTGAAGGGGCACA	0.468000													12	38					0	0	1	0	0
SLC41A3	54946	broad.mit.edu	37	3	125727577	125727577	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:125727577G>T	ENST00000383598.2	-	9	1459	c.1174C>A	c.(1174-1176)Cag>Aag	p.Q392K	SLC41A3_ENST00000508835.1_Missense_Mutation_p.Q301K|SLC41A3_ENST00000360370.4_Missense_Mutation_p.Q418K|SLC41A3_ENST00000346785.5_Missense_Mutation_p.Q382K|SLC41A3_ENST00000315891.6_Missense_Mutation_p.Q418K	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	418						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		AGGCTTACCTGGATCAGGCCT	0.557000													31	33					1.80694e-10	2.31782e-10	1	1	0
GJA10	84694	broad.mit.edu	37	6	90604758	90604758	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:90604758C>G	ENST00000369352.1	+	1	571	c.571C>G	c.(571-573)Caa>Gaa	p.Q191E		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	191					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CAAATGCACTCAACCTCCTTG	0.438000													59	42					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118342823	118342823	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:118342823G>T	ENST00000534358.1	+	3	972	c.949G>T	c.(949-951)Ggt>Tgt	p.G317C	KMT2A_ENST00000354520.4_Missense_Mutation_p.G317C|KMT2A_ENST00000389506.5_Missense_Mutation_p.G317C	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		GACCCCTTCGGGTCTCCTCAT	0.448000													32	45					5.77227e-19	8.58478e-19	1	1	0
SLC25A38	54977	broad.mit.edu	37	3	39431919	39431919	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:39431919G>T	ENST00000273158.4	+	3	574	c.197G>T	c.(196-198)aGa>aTa	p.R66I		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	66			R -> G (in dbSNP:rs34127778).		erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TTCAGGTCTAGACGTGTTGGG	0.458000													33	5					5.09552e-08	6.10624e-08	1	1	0
ACSM5	54988	broad.mit.edu	37	16	20451149	20451149	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:20451149C>A	ENST00000331849.4	+	13	1711	c.1564C>A	c.(1564-1566)Cca>Aca	p.P522T		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	522					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AGTCCTTACTCCAGCCTACTC	0.458000													29	30					2.08457e-15	2.97504e-15	1	1	0
JAG1	182	broad.mit.edu	37	20	10625014	10625014	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:10625014G>C	ENST00000254958.5	-	19	2878	c.2363C>G	c.(2362-2364)cCt>cGt	p.P788R	JAG1_ENST00000423891.2_Missense_Mutation_p.P629R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	788	EGF-like 15; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CCAGGGATGAGGGCTGCAGTC	0.453000									Alagille Syndrome				3	13					0	0	1	0	0
PLXNB2	23654	broad.mit.edu	37	22	50727272	50727272	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:50727272G>A	ENST00000449103.1	-	5	1420	c.1280C>T	c.(1279-1281)tCa>tTa	p.S427L	PLXNB2_ENST00000359337.4_Missense_Mutation_p.S427L			O15031	PLXB2_HUMAN	plexin B2	427	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCGTACTCTGAGGAGGTGCC	0.622000													28	25					0	0	1	0	0
NRCAM	4897	broad.mit.edu	37	7	107791175	107791175	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:107791175G>A	ENST00000379022.4	-	34	4171	c.3701C>T	c.(3700-3702)gCa>gTa	p.A1234V	NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000425651.2_Intron|NRCAM_ENST00000379028.3_Intron|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	0					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTAAAAGGATGCAGAAGAAAC	0.303000													5	3					0	0	1	0	0
PRSS36	146547	broad.mit.edu	37	16	31157277	31157277	+	Splice_Site	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:31157277C>G	ENST00000268281.4	-	6	612		c.e6-1		PRSS36_ENST00000418068.2_Splice_Site|PRSS36_ENST00000569305.1_Splice_Site	NM_001258290.1|NM_173502.4	NP_001245219.1|NP_775773.2	Q5K4E3	POLS2_HUMAN	protease, serine, 36						proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GGCAGAGGATCTGGAGGCAGA	0.602000													7	17					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39919517	39919517	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:39919517G>C	ENST00000564288.1	+	88	21658	c.20881G>C	c.(20881-20883)Gag>Cag	p.E6961Q	MACF1_ENST00000317713.7_Missense_Mutation_p.E4902Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E6860Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E4902Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E6998Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E5404Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E4902Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E4772Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6860					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGCTCGCTTCGAGGAGGTGAG	0.493000													63	93					0	0	1	0	0
TTLL1	25809	broad.mit.edu	37	22	43435881	43435881	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:43435881C>T	ENST00000331018.7	-	10	1326	c.1086G>A	c.(1084-1086)ggG>ggA	p.G362G	AL022476.2_ENST00000443063.1_RNA|TTLL1_ENST00000266254.7_Silent_p.G391G			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	391	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CCCGGTCAGCCCCGTCACCCT	0.622000													54	79					0	0	1	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43483839	43483839	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:43483839G>A	ENST00000300213.4	+	8	1068	c.826G>A	c.(826-828)Gac>Aac	p.D276N	CCNDBP1_ENST00000356633.5_Missense_Mutation_p.D115N|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	276	Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		ACAGCTGGATGACATTGTGGA	0.488000													17	23					0	0	1	0	0
PTCHD3P1	387647	broad.mit.edu	37	10	29710361	29710361	+	RNA	SNP	C	C	T	rs67692254	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:29710361C>T	ENST00000427063.2	+	0	1085				PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000537908.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000438202.1_RNA	NR_003930.1																						CTTCCTCGTCCCTCCCACCTT	0.488000													3	21					0	0	1	0	0
AGBL4	84871	broad.mit.edu	37	1	49128906	49128906	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:49128906G>C	ENST00000371839.1	-	7	758	c.642C>G	c.(640-642)ctC>ctG	p.L214L	AGBL4_ENST00000371838.1_Silent_p.L214L|AGBL4_ENST00000334103.7_5'UTR	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	214					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CCCCTTCCCGGAGATTGTCTG	0.522000													23	37					0	0	1	0	0
STK11IP	114790	broad.mit.edu	37	2	220476337	220476337	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:220476337G>T	ENST00000456909.1	+	18	2206	c.2116G>T	c.(2116-2118)Gtg>Ttg	p.V706L	STK11IP_ENST00000295641.10_Missense_Mutation_p.V717L			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	717					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATCTCCTGCTGTGTGTCCTAA	0.607000													66	55					3.57465e-26	5.67853e-26	1	1	0
CLTCL1	8218	broad.mit.edu	37	22	19184014	19184014	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:19184014C>T	ENST00000263200.10	-	25	4099	c.4027G>A	c.(4027-4029)Gtc>Atc	p.V1343I	CLTCL1_ENST00000427926.1_Missense_Mutation_p.V1343I|CLTCL1_ENST00000353891.5_Missense_Mutation_p.V1343I|CLTCL1_ENST00000442042.2_5'UTR	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1343	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GGGATGTTGACACGGGACCAG	0.587000			T	?	ALCL								26	35					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87570333	87570333	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:87570333C>T	ENST00000376214.1	+	19	3011	c.2073C>T	c.(2071-2073)cgC>cgT	p.R691R	NTRK2_ENST00000277120.3_Silent_p.R691R|NTRK2_ENST00000376213.1_Silent_p.R675R|NTRK2_ENST00000323115.4_Silent_p.R675R	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	675	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TCGTGCACCGCGATTTGGCCA	0.612000										TSP Lung(25;0.17)			6	26					0	0	1	0	0
EEF2	1938	broad.mit.edu	37	19	3982316	3982316	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:3982316C>A	ENST00000309311.6	-	5	807	c.719G>T	c.(718-720)gGg>gTg	p.G240V		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	240						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGGCCCTCCCCCTTGGCGGC	0.632000													30	5					2.14196e-07	2.53041e-07	1	1	0
DDC	1644	broad.mit.edu	37	7	50597015	50597015	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:50597015A>G	ENST00000444124.2	-	5	661	c.461T>C	c.(460-462)gTg>gCg	p.V154A	DDC_ENST00000357936.5_Missense_Mutation_p.V154A|DDC_ENST00000426377.1_Missense_Mutation_p.V76A|DDC_ENST00000380984.4_Missense_Mutation_p.V154A|DDC_ENST00000431062.1_Intron|DDC_ENST00000489162.1_5'UTR	NM_001082971.1	NP_001076440.1	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	154	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	CAGCAGGGCCACCAGGGTGGC	0.537000													39	36					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28909950	28909950	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:28909950G>C	ENST00000257192.4	+	5	680	c.468G>C	c.(466-468)gtG>gtC	p.V156V		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	156	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACCCTCCAGTGTTTTCAATGG	0.438000													20	3					0	0	1	0	0
SUSD4	55061	broad.mit.edu	37	1	223402656	223402656	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:223402656C>A	ENST00000343846.3	-	5	1432	c.799G>T	c.(799-801)Gga>Tga	p.G267*	SUSD4_ENST00000366878.4_Nonsense_Mutation_p.G267*|SUSD4_ENST00000454695.2_Nonsense_Mutation_p.G107*|SUSD4_ENST00000478605.1_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	267	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ACCACAGTTCCGTGGTTGTAG	0.522000													19	38					6.94344e-10	8.78097e-10	1	1	0
IGFL1	374918	broad.mit.edu	37	19	46733711	46733711	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:46733711T>A	ENST00000437936.1	+	3	283	c.260T>A	c.(259-261)aTg>aAg	p.M87K		NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	87						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		TGGACCTTCATGGTGAAGCTG	0.582000													259	71					0	0	1	0	0
CTNND2	1501	broad.mit.edu	37	5	10992687	10992687	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:10992687G>A	ENST00000304623.8	-	19	3376	c.3187C>T	c.(3187-3189)Cgc>Tgc	p.R1063C	CTNND2_ENST00000359640.2_Missense_Mutation_p.R1005C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Missense_Mutation_p.R972C|CTNND2_ENST00000503622.1_Missense_Mutation_p.R726C|CTNND2_ENST00000458100.2_Missense_Mutation_p.R630C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1063					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGAGACACGCGCACAGGGGAG	0.592000													23	45					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140625940	140625940	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140625940C>A	ENST00000231173.3	+	1	794	c.794C>A	c.(793-795)tCt>tAt	p.S265Y		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		265	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCAAGGTCTCTGCTAGGGAT	0.502000													10	18					0.00621372	0.00637781	1	1	0
GLI3	2737	broad.mit.edu	37	7	42004817	42004817	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:42004817G>T	ENST00000395925.3	-	15	3938	c.3854C>A	c.(3853-3855)cCc>cAc	p.P1285H	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1285					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCCTTGCATGGGGGTGCTCTT	0.617000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				36	39					1.90571e-15	2.72645e-15	1	1	0
ATG16L1	55054	broad.mit.edu	37	2	234181620	234181620	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:234181620A>T	ENST00000392017.4	+	7	973	c.716A>T	c.(715-717)gAc>gTc	p.D239V	ATG16L1_ENST00000498620.1_3'UTR|ATG16L1_ENST00000347464.5_Missense_Mutation_p.D95V|ATG16L1_ENST00000373525.5_Missense_Mutation_p.D95V|ATG16L1_ENST00000392018.1_Missense_Mutation_p.D239V|ATG16L1_ENST00000392020.4_Missense_Mutation_p.D239V	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)	239					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)		AGGGATGATGACATTGAGGTC	0.453000													43	34					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49598332	49598332	+	RNA	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:49598332C>A	ENST00000527477.1	+	0	936																											CATCATGGATCTGAGTGACAA	0.473000													8	13					3.86212e-05	4.24833e-05	1	1	0
PTK7	5754	broad.mit.edu	37	6	43106878	43106878	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:43106878C>T	ENST00000230419.4	+	9	1588	c.1367C>T	c.(1366-1368)tCa>tTa	p.S456L	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Missense_Mutation_p.S456L|PTK7_ENST00000352931.2_Missense_Mutation_p.S456L|PTK7_ENST00000481273.1_Missense_Mutation_p.S464L	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	456	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGCAGGACTCACGGTTCGAG	0.592000													3	14					0	0	1	0	0
CLPTM1L	81037	broad.mit.edu	37	5	1323949	1323949	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:1323949G>C	ENST00000320895.5	-	12	1490	c.1233C>G	c.(1231-1233)ctC>ctG	p.L411L	CLPTM1L_ENST00000507807.1_Silent_p.L242L|CLPTM1L_ENST00000506641.1_5'UTR|CLPTM1L_ENST00000320927.6_Silent_p.L375L	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	411					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		CCCCGACACAGAGAGGGTACA	0.517000													12	32					0	0	1	0	0
CSF3	1440	broad.mit.edu	37	17	38171996	38171996	+	Silent	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:38171996C>G	ENST00000331769.2	+	1	297	c.81C>G	c.(79-81)acC>acG	p.T27T	CSF3_ENST00000394148.3_Silent_p.T31T|CSF3_ENST00000577675.1_Silent_p.T27T|CSF3_ENST00000394149.3_Silent_p.T31T|CSF3_ENST00000225474.2_Silent_p.T31T			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	31					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	AGGAAGCCACCCCCCTGGGCC	0.642000													5	5					0	0	1	0	0
TAF1	6872	broad.mit.edu	37	X	70674707	70674707	+	Splice_Site	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:70674707G>C	ENST00000449580.1	+	34	4986	c.4935_splice	c.e34+1	p.Q1645_splice	TAF1_ENST00000373790.4_Splice_Site_p.Q1645_splice|TAF1_ENST00000423759.1_Splice_Site_p.Q1666_splice|TAF1_ENST00000276072.3_Splice_Site_p.Q1666_splice|TAF1_ENST00000461764.1_3'UTR			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1645	Asp/Glu-rich (acidic tail).|Protein kinase 2.			Q -> QAK (in Ref. 6; CAD87527).	G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACACGCCTCAGGTGAGTCTGA	0.438000													13	15					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063165	21063165	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:21063165G>A	ENST00000261383.3	-	29	4063	c.4064C>T	c.(4063-4065)tCt>tTt	p.S1355F	DNAH3_ENST00000415178.1_Missense_Mutation_p.S1355F	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1355	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCTGTCCTCAGATAACTTGGC	0.512000													20	74					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121417266	121417266	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:121417266C>A	ENST00000393667.3	-	13	2214	c.2104G>T	c.(2104-2106)Gag>Tag	p.E702*	GOLGB1_ENST00000340645.5_Nonsense_Mutation_p.E697*	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	697					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AAGTTTAGCTCGAGCTCCAAA	0.358000													13	19					0.00010058	0.00010869	1	1	0
ZNF488	118738	broad.mit.edu	37	10	48371148	48371148	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:48371148C>T	ENST00000395702.2	+	2	843	c.616C>T	c.(616-618)Cga>Tga	p.R206*	ZNF488_ENST00000586537.1_Nonsense_Mutation_p.R99*|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						TTGTTGGGGTCGACTTTCAAC	0.537000													16	75					0	0	1	0	0
OR14K1	343170	broad.mit.edu	37	1	247902674	247902674	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:247902674G>T	ENST00000283225.2	+	1	758	c.758G>T	c.(757-759)gGt>gTt	p.G253V	RP11-634B7.4_ENST00000449298.1_RNA					olfactory receptor, family 14, subfamily K, member 1											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1)	27						CTTGTAACAGGTGCTGTTGCT	0.448000													7	23					8.12818e-05	8.81624e-05	1	1	0
SLC27A5	10998	broad.mit.edu	37	19	59021275	59021275	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:59021275C>A	ENST00000263093.2	-	3	1105	c.996G>T	c.(994-996)acG>acT	p.T332T	SLC27A5_ENST00000601355.1_Silent_p.T248T	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	332					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GAGGCAGGACCGTGTAAACCA	0.567000													20	4					1.28384e-07	1.5213e-07	1	1	0
CD180	4064	broad.mit.edu	37	5	66479055	66479055	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:66479055G>C	ENST00000256447.4	-	3	1773	c.1616C>G	c.(1615-1617)tCt>tGt	p.S539C		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	539					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		ATGGCTAAGAGAATCAATGCT	0.483000													4	17					0	0	1	0	0
GJC3	349149	broad.mit.edu	37	7	99526503	99526503	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:99526503G>T	ENST00000312891.2	-	1	740	c.741C>A	c.(739-741)agC>agA	p.S247R		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	247						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CCACTGGGAGGCTATCGGTTG	0.488000													17	40					2.39187e-15	3.40528e-15	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189906373	189906373	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:189906373C>A	ENST00000374866.3	-	50	3846	c.3572G>T	c.(3571-3573)gGg>gTg	p.G1191V		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1191					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCCAAGTGGCCCAGGGTTTCC	0.453000													23	35					4.26978e-12	5.63185e-12	1	1	0
GLRA1	2741	broad.mit.edu	37	5	151231155	151231155	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:151231155G>C	ENST00000274576.4	-	7	1000	c.708C>G	c.(706-708)acC>acG	p.T236T	GLRA1_ENST00000455880.2_Silent_p.T236T|GLRA1_ENST00000545569.1_Silent_p.T153T|GLRA1_ENST00000471351.2_5'UTR	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	236					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTCAATGCAGGTGAATTTAC	0.488000													17	27					0	0	1	0	0
MRPS18B	28973	broad.mit.edu	37	6	30585657	30585657	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:30585657A>G	ENST00000259873.4	+	1	172	c.15A>G	c.(13-15)gtA>gtG	p.V5V	MRPS18B_ENST00000472229.1_3'UTR|MRPS18B_ENST00000506373.2_Silent_p.V5V	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	5					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CGGCGTCTGTATTAAACACCG	0.517000													28	19					0	0	1	0	0
ZNF567	163081	broad.mit.edu	37	19	37203335	37203335	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:37203335G>T	ENST00000536254.2	+	4	279	c.57G>T	c.(55-57)gaG>gaT	p.E19D	ZNF567_ENST00000392163.2_5'UTR|ZNF567_ENST00000588311.1_5'UTR|ZNF567_ENST00000585696.1_5'UTR|ZNF567_ENST00000360729.4_5'UTR			Q8N184	ZN567_HUMAN	zinc finger protein 567	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTCAGGAGGAGTGGCAGCACC	0.448000													86	5					1.07134e-49	1.79738e-49	1	1	0
ITGAD	3681	broad.mit.edu	37	16	31426312	31426312	+	Splice_Site	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:31426312T>A	ENST00000389202.2	+	18	2332	c.2283_splice	c.e18+1	p.S761_splice		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	761					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACTGCTTCTGTGAGTCTTC	0.542000													17	46					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023409	31023409	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:31023409G>C	ENST00000375687.4	+	13	3318	c.2894G>C	c.(2893-2895)cGa>cCa	p.R965P	ASXL1_ENST00000306058.5_Missense_Mutation_p.R960P	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	965					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTGCCATCTCGAGGAGGCAGT	0.527000			"""F, N, Mis"""		"""MDS, CMML"""								17	36					0	0	1	0	0
SFTPA2	729238	broad.mit.edu	37	10	81319086	81319086	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:81319086C>T	ENST00000372325.2	-	3	238	c.154G>A	c.(154-156)Gga>Aga	p.G52R	SFTPA2_ENST00000372327.5_Missense_Mutation_p.G52R	NM_001098668.2	NP_001092138.1	Q8IWL1	SFPA2_HUMAN	surfactant protein A2	52	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	sugar binding			endometrium(1)|kidney(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCAGGGTCTCCTTTGACACCA	0.627000									Pulmonary Fibrosis, Idiopathic				18	46					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99897182	99897182	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:99897182G>T	ENST00000421999.2	+	10	936	c.790G>T	c.(790-792)Gga>Tga	p.G264*	CMSS1_ENST00000489081.1_Nonsense_Mutation_p.G246*	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		TCTGGAAATGGGAGTGCTCAG	0.393000													5	15					0.248553	0.24898	1	1	0
ZC3H13	23091	broad.mit.edu	37	13	46543485	46543485	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:46543485C>A	ENST00000242848.4	-	14	3542	c.3194G>T	c.(3193-3195)aGt>aTt	p.S1065I	ZC3H13_ENST00000282007.3_Missense_Mutation_p.S1065I|ZC3H13_ENST00000378921.2_Missense_Mutation_p.S21I			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1065							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGACCAGTCACTGAATGCTGT	0.478000													29	39					1.12875e-08	1.38394e-08	1	1	0
GPR158	57512	broad.mit.edu	37	10	25883229	25883229	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:25883229T>A	ENST00000376351.3	+	9	2260	c.1901T>A	c.(1900-1902)cTt>cAt	p.L634H	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	634						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AGATTTGTTCTTGCCTCAAGA	0.358000													15	13					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103491088	103491088	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:103491088C>A	ENST00000358392.2	-	7	1332	c.1015G>T	c.(1015-1017)Ggg>Tgg	p.G339W	COL11A1_ENST00000353414.4_Missense_Mutation_p.G288W|COL11A1_ENST00000370096.3_Missense_Mutation_p.G327W|COL11A1_ENST00000512756.1_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	327	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCATTTGTCCCAGAAACATGC	0.328000													12	16					0.00136819	0.00143078	1	1	0
CD163	9332	broad.mit.edu	37	12	7655116	7655116	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:7655116C>A	ENST00000359156.4	-	2	293	c.91G>T	c.(91-93)Gtg>Ttg	p.V31L	CD163_ENST00000541972.1_Missense_Mutation_p.V19L|CD163_ENST00000432237.2_Missense_Mutation_p.V31L|CD163_ENST00000396620.3_Missense_Mutation_p.V31L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	31					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						agtaagaccacagtaatggtg	0.403000													7	8					5.18039e-06	5.84737e-06	1	1	0
WDR72	256764	broad.mit.edu	37	15	54025290	54025290	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:54025290G>A	ENST00000396328.1	-	2	296	c.57C>T	c.(55-57)agC>agT	p.S19S	WDR72_ENST00000559418.1_Silent_p.S19S|WDR72_ENST00000557913.1_Silent_p.S19S|WDR72_ENST00000360509.5_Silent_p.S19S	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	19										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGGCAGTGATGCTGTGGGGAG	0.507000													8	56					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166999059	166999059	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:166999059G>A	ENST00000061240.2	+	18	2966	c.2319G>A	c.(2317-2319)gaG>gaA	p.E773E	TLL1_ENST00000507499.1_Silent_p.E796E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	773					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GTGCAGCTGAGTGTGAACAGA	0.502000													14	7					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010583	70010583	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:70010583G>T	ENST00000532298.1	-	7	694	c.695C>A	c.(694-696)cCc>cAc	p.P232H	PDXDC2P_ENST00000531894.1_RNA																breast(2)|endometrium(2)|kidney(6)|lung(2)|prostate(1)	13						TGTGAGGTAGGGCCAGTAGGG	0.488000													17	24					4.35082e-09	5.40261e-09	1	1	0
DENND4A	10260	broad.mit.edu	37	15	65962504	65962504	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:65962504C>T	ENST00000443035.3	-	26	4699	c.4484G>A	c.(4483-4485)cGg>cAg	p.R1495Q	DENND4A_ENST00000431932.2_Missense_Mutation_p.R1452Q	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						AGTTCTACACCGAGAGCAACT	0.378000													3	3					0	0	1	0	0
FADS2	9415	broad.mit.edu	37	11	61608001	61608001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:61608001C>T	ENST00000278840.4	+	3	1144	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	FADS2_ENST00000522056.1_Nonsense_Mutation_p.Q141*|FADS2_ENST00000521849.1_Nonsense_Mutation_p.Q172*|FADS2_ENST00000257261.6_Nonsense_Mutation_p.Q150*	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	172					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TGCTACCTCTCAGGTGAGGCG	0.567000													46	59					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436566	248436566	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:248436566C>T	ENST00000318021.2	-	1	572	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184L(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACAAGCCAAACGCACCAGCAC	0.542000													10	52					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157454264	157454264	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:157454264A>T	ENST00000346085.5	+	8	2475	c.2474A>T	c.(2473-2475)cAt>cTt	p.H825L	ARID1B_ENST00000350026.5_Missense_Mutation_p.H812L|ARID1B_ENST00000367148.1_Missense_Mutation_p.H812L|ARID1B_ENST00000275248.4_Missense_Mutation_p.H754L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	812					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCAGATGCATGCTGGAATC	0.498000													21	4					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24419551	24419551	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:24419551G>A	ENST00000330966.7	-	10	1141	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000374434.3_Missense_Mutation_p.R326C|MYOM3_ENST00000329601.7_Missense_Mutation_p.R326C			Q5VTT5	MYOM3_HUMAN	myomesin 3	326	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GATGCCTGGCGGTCTGTGTAG	0.632000													14	12					0	0	1	0	0
NBR1	4077	broad.mit.edu	37	17	41341693	41341693	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:41341693C>T	ENST00000422280.1	+	8	1028	c.569C>T	c.(568-570)tCt>tTt	p.S190F	NBR1_ENST00000542611.1_Missense_Mutation_p.S169F|NBR1_ENST00000341165.6_Missense_Mutation_p.S190F|NBR1_ENST00000589872.1_Missense_Mutation_p.S190F|NBR1_ENST00000389312.4_Missense_Mutation_p.S190F|NBR1_ENST00000590996.1_Missense_Mutation_p.S190F	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	190					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		TCCTTGGGTTCTTGTCCCTCA	0.423000													38	33					0	0	1	0	0
RBM33	155435	broad.mit.edu	37	7	155499568	155499568	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:155499568G>T	ENST00000401878.3	+	7	952	c.754G>T	c.(754-756)Gcc>Tcc	p.A252S	RBM33_ENST00000486747.1_3'UTR	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	252	Glu-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TTCAGCAGAGGCCAAGGCAGC	0.502000													7	2					8.12818e-05	8.81624e-05	1	1	0
USP16	10600	broad.mit.edu	37	21	30407158	30407158	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:30407158G>T	ENST00000334352.4	+	5	472	c.240_splice	c.e5-1	p.G81_splice	USP16_ENST00000399975.3_Splice_Site_p.G81_splice|USP16_ENST00000399976.2_Splice_Site_p.G81_splice|USP16_ENST00000535828.1_Intron	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	81					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						ATTTTTTTAGGGCTGTGGCAG	0.418000													24	20					2.70639e-06	3.09378e-06	1	1	0
GDF10	2662	broad.mit.edu	37	10	48429502	48429502	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:48429502G>T	ENST00000224605.2	-	2	649	c.384C>A	c.(382-384)atC>atA	p.I128I		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	128					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						TGGCCGTAAGGATCATTTCCG	0.582000													27	19					7.38237e-10	9.31585e-10	1	1	0
DNAJB2	3300	broad.mit.edu	37	2	220147942	220147942	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:220147942G>C	ENST00000336576.5	+	7	821	c.533G>C	c.(532-534)cGc>cCc	p.R178P	DNAJB2_ENST00000392086.4_Missense_Mutation_p.R178P|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	178					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding	p.R178H(1)		endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAAGGACGCCGCATCACCACA	0.552000													22	52					0	0	1	0	0
LINC00293	497634	broad.mit.edu	37	8	47760428	47760428	+	RNA	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:47760428T>C	ENST00000521715.1	+	0	497					NR_027013.1																						GATGAAATTGTGCAATATGTG	0.393000													2	1					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579439	140579439	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140579439G>T	ENST00000354757.3	+	1	92	c.92G>T	c.(91-93)tGg>tTg	p.W31L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		31					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGAAACCTGGAGCTTTTCT	0.527000													22	36					3.5997e-14	5.00268e-14	1	1	0
KNG1	3827	broad.mit.edu	37	3	186460053	186460053	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:186460053G>C	ENST00000265023.4	+	10	2080	c.1868G>C	c.(1867-1869)aGt>aCt	p.S623T	KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	623					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AAGTCAGTTAGTGAAATTAAT	0.388000													30	63					0	0	1	0	0
RBM15	64783	broad.mit.edu	37	1	110884036	110884036	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:110884036C>T	ENST00000369784.3	+	1	2909	c.2009C>T	c.(2008-2010)tCt>tTt	p.S670F	RBM15_ENST00000602849.1_Missense_Mutation_p.S670F|RBM15_ENST00000487146.2_Missense_Mutation_p.S670F	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	670	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		TGCGCTCCTTCTCCTGACCGC	0.557000			T	MKL1	acute megakaryocytic leukemia								22	25					0	0	1	0	0
RANBP2	5903	broad.mit.edu	37	2	109382946	109382946	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:109382946G>T	ENST00000283195.6	+	20	6077	c.5951G>T	c.(5950-5952)gGt>gTt	p.G1984V		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1984					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCACAATACGGTAAAATGGCC	0.393000													81	162					6.21051e-42	1.03155e-41	1	1	0
USP51	158880	broad.mit.edu	37	X	55513962	55513962	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:55513962C>A	ENST00000500968.3	-	2	1493	c.1411G>T	c.(1411-1413)Ggg>Tgg	p.G471W	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	471					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GCCTCCTGCCCACCACTATCA	0.473000													35	39					2.47316e-13	3.36488e-13	1	1	0
ADAMTS13	11093	broad.mit.edu	37	9	136323185	136323185	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:136323185G>T	ENST00000371929.3	+	28	4490	c.4046G>T	c.(4045-4047)gGg>gTg	p.G1349V	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.G145V|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.G1293V|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.G1262V	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1349	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		ATGGGCGCTGGGACCGAGGGA	0.617000													18	8					3.52763e-06	3.99342e-06	1	1	0
AC096579.13	0	broad.mit.edu	37	2	89160156	89160156	+	RNA	SNP	C	C	T	rs139226454	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:89160156C>T	ENST00000452230.1	-	0	39				AC096579.7_ENST00000430694.1_RNA																							TAACAAAAATCTCTTTTCGCT	0.403000													9	9					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357552	13357552	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:13357552C>A	ENST00000276297.4	-	2	438	c.29G>T	c.(28-30)tGg>tTg	p.W10L	DLC1_ENST00000316609.5_Missense_Mutation_p.W10L|DLC1_ENST00000511869.1_Missense_Mutation_p.W10L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	10					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						ATGTTCTTCCCAGCTTCTCTT	0.428000													10	28					1.08611e-07	1.28961e-07	1	1	0
M1AP	130951	broad.mit.edu	37	2	74789528	74789528	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:74789528G>T	ENST00000290536.5	-	8	1213	c.1097C>A	c.(1096-1098)gCc>gAc	p.A366D	M1AP_ENST00000358434.2_Intron|M1AP_ENST00000536235.1_Missense_Mutation_p.A366D|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000409585.1_Missense_Mutation_p.A366D	NM_138804.3	NP_620159.2			meiosis 1 associated protein																		TTCCCCCTTGGCTAACAGCAG	0.498000													38	56					2.52637e-11	3.29502e-11	1	1	0
TYR	7299	broad.mit.edu	37	11	88911242	88911242	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:88911242G>C	ENST00000263321.5	+	1	623	c.121G>C	c.(121-123)Ggg>Cgg	p.G41R	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	41					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ACCGTGGAGCGGGGACAGGAG	0.562000													12	42					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18687494	18687494	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:18687494C>T	ENST00000406451.3	+	10	1263	c.1113C>T	c.(1111-1113)agC>agT	p.S371S	HDAC9_ENST00000405010.3_Silent_p.S371S|HDAC9_ENST00000417496.2_Silent_p.S369S|HDAC9_ENST00000441542.2_Silent_p.S374S|HDAC9_ENST00000428307.2_Silent_p.S327S|HDAC9_ENST00000456174.2_Silent_p.S343S|HDAC9_ENST00000524023.1_Silent_p.S294S|HDAC9_ENST00000432645.2_Silent_p.S371S|HDAC9_ENST00000401921.1_Silent_p.S330S|HDAC9_ENST00000406072.1_Silent_p.S358S	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	371					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATGGAGGCAGCATCCCGGCAT	0.498000													10	7					0	0	1	0	0
NMB	4828	broad.mit.edu	37	15	85198534	85198534	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:85198534G>T	ENST00000394588.3	-	3	842	c.432C>A	c.(430-432)acC>acA	p.T144T	NMB_ENST00000360476.3_3'UTR	NM_021077.3|NM_205858.1	NP_066563.2|NP_995580.1	P08949	NMB_HUMAN	neuromedin B	0					cell-cell signaling|neuropeptide signaling pathway	extracellular region|soluble fraction	hormone activity			endometrium(1)	1				all cancers(203;3.5e-06)		CCATCAACAGGGTCCCATTCA	0.493000													30	107					1.2476e-16	1.81611e-16	1	1	0
ZNF564	163050	broad.mit.edu	37	19	12637860	12637860	+	Silent	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:12637860T>C	ENST00000339282.7	-	4	1258	c.1062A>G	c.(1060-1062)acA>acG	p.T354T	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCCTTTCATGTGTTCGAACAT	0.418000													36	12					0	0	1	0	0
SYT11	23208	broad.mit.edu	37	1	155838152	155838152	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:155838152G>T	ENST00000368324.4	+	2	684	c.431G>T	c.(430-432)aGc>aTc	p.S144I	SYT11_ENST00000539162.1_Intron	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	144						cell junction|synaptic vesicle membrane	protein binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			CCTGGGGAGAGCAAAACCACC	0.502000													28	75					2.48779e-11	3.24834e-11	1	1	0
SIGLEC12	89858	broad.mit.edu	37	19	52004819	52004819	+	Missense_Mutation	SNP	C	C	A	rs144207303	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:52004819C>A	ENST00000291707.3	-	1	224	c.169G>T	c.(169-171)Gat>Tat	p.D57Y		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	57	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TGAACTGGATCGGAGGCAGTC	0.577000													39	11					4.00102e-26	6.34719e-26	1	1	0
WDR88	126248	broad.mit.edu	37	19	33647391	33647391	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:33647391G>T	ENST00000361680.2	+	7	1018	c.940G>T	c.(940-942)Gtg>Ttg	p.V314L	WDR88_ENST00000355868.3_Missense_Mutation_p.V314L			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	314										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TGGAGCCTGTGTGACTCTGAT	0.473000													92	20					1.68082e-61	2.8486e-61	1	1	0
ZNF318	24149	broad.mit.edu	37	6	43306102	43306102	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:43306102G>C	ENST00000361428.2	-	10	5711	c.5634C>G	c.(5632-5634)ctC>ctG	p.L1878L	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1878					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTGTGGGTTGAGTAAAGACC	0.423000													10	33					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168103465	168103465	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:168103465A>C	ENST00000409195.1	+	9	5652	c.5563A>C	c.(5563-5565)Aaa>Caa	p.K1855Q	XIRP2_ENST00000295237.9_Missense_Mutation_p.K1855Q|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.K1633Q	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1680					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGTAAATCAGAAAACAGTGAC	0.393000													17	20					0	0	1	0	0
DMD	1756	broad.mit.edu	37	X	32407768	32407768	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:32407768C>A	ENST00000357033.4	-	32	4574	c.4368G>T	c.(4366-4368)atG>atT	p.M1456I	DMD_ENST00000378677.2_Missense_Mutation_p.M1452I	NM_000109.3|NM_004006.2|NM_004007.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997.1|NP_003998.1|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1456	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCGAAACTTCATGGAGACAT	0.343000													25	9					3.28513e-13	4.44369e-13	1	1	0
POLQ	10721	broad.mit.edu	37	3	121206886	121206886	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:121206886C>A	ENST00000264233.5	-	16	5020	c.4892G>T	c.(4891-4893)tGg>tTg	p.W1631L		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1631					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	p.W1766S(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCCCCTGACCATATGAATGA	0.383000								DNA polymerases (catalytic subunits)					58	90					1.88225e-35	3.08245e-35	1	1	0
SPATA31D4	389761	broad.mit.edu	37	9	84547502	84547502	+	RNA	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:84547502T>A	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA																							ATGATGCATCTGTCAGGGAAT	0.448000													10	4					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210557884	210557884	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:210557884G>T	ENST00000360351.4	+	7	1496	c.990G>T	c.(988-990)aaG>aaT	p.K330N	MAP2_ENST00000447185.1_Missense_Mutation_p.K326N|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	330					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATGTCATGAAGAATGAAATAG	0.438000													14	26					1.3612e-06	1.56989e-06	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62198671	62198671	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:62198671C>A	ENST00000467148.1	-	6	2109	c.2040G>T	c.(2038-2040)ccG>ccT	p.P680P	HELZ2_ENST00000427522.2_Silent_p.P111P	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		CATAGGCCAGCGGGGTGAGGG	0.706000													9	18					7.48243e-07	8.68975e-07	1	1	0
HELZ2	85441	broad.mit.edu	37	20	62198210	62198210	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:62198210G>A	ENST00000467148.1	-	6	2570	c.2501C>T	c.(2500-2502)tCc>tTc	p.S834F	HELZ2_ENST00000427522.2_Missense_Mutation_p.S265F	NM_001037335.2	NP_001032412.2			helicase with zinc finger 2, transcriptional coactivator																		GGCACCGTGGGAAACGACACA	0.711000													17	23					0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178030861	178030861	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:178030861C>A	ENST00000316308.4	-	12	1457	c.1289G>T	c.(1288-1290)cGc>cTc	p.R430L		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	430	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CGGTTTGCAGCGTCTCCTAAC	0.333000													8	16					0.00307968	0.00319476	1	1	0
SLC25A36	55186	broad.mit.edu	37	3	140689816	140689816	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:140689816C>G	ENST00000446041.2	+	5	658	c.433C>G	c.(433-435)Cgg>Ggg	p.R145G	SLC25A36_ENST00000453248.2_Missense_Mutation_p.R119G|SLC25A36_ENST00000324194.6_Missense_Mutation_p.R145G	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	145					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TATAAAGACTCGGTTACAGCT	0.303000													12	14					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520948	131520948	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:131520948G>T	ENST00000423981.1	+	2	1413	c.1303G>T	c.(1303-1305)Ggc>Tgc	p.G435C	AMER3_ENST00000321420.4_Missense_Mutation_p.G435C	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGGTCCTCTTGGCCCCAGCCC	0.662000													18	39					5.3912e-06	6.06771e-06	1	1	0
TGFBR3	7049	broad.mit.edu	37	1	92262844	92262844	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:92262844C>A	ENST00000212355.4	-	3	711	c.246_splice	c.e3+1	p.E82_splice	TGFBR3_ENST00000370399.2_Splice_Site_p.E82_splice|TGFBR3_ENST00000525962.1_Splice_Site_p.E82_splice	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	82					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTGCACCTACCTCTCTCTGTA	0.562000													68	196					4.83814e-26	7.66477e-26	1	1	0
OR4A15	81328	broad.mit.edu	37	11	55135759	55135759	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:55135759T>G	ENST00000314706.3	+	1	400	c.400T>G	c.(400-402)Tta>Gta	p.L134V		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TATGGATCATTTATTTGCTGG	0.408000													35	38					0	0	1	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091062	11091062	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:11091062T>C	ENST00000537503.1	-	1	800	c.745A>G	c.(745-747)Ata>Gta	p.I249V	TAS2R14_ENST00000381852.4_5'UTR|PRR4_ENST00000536668.1_Intron	NM_023922.1	NP_076411.1	Q9NYV8	T2R14_HUMAN	taste receptor, type 2, member 14	249					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						CAAACTGATATGAAAAAAGAC	0.413000													31	35					0	0	1	0	0
KRTAP4-4	84616	broad.mit.edu	37	17	39316756	39316756	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:39316756G>T	ENST00000390661.3	-	1	227	c.188C>A	c.(187-189)cCc>cAc	p.P63H		NM_032524.1	NP_115913.1	Q9BYR3	KRA44_HUMAN	keratin associated protein 4-4	63	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].		Missing (in allele KAP4.13).|Missing (in allele KAP4.4-v1).			keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGCAGCTGGGGTGGCAGCA	0.657000													53	79					9.87224e-16	1.41936e-15	1	1	0
TBC1D28	254272	broad.mit.edu	37	17	18541184	18541184	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:18541184C>T	ENST00000345096.4	-	8	1189	c.490G>A	c.(490-492)Gga>Aga	p.G164R	TBC1D28_ENST00000405044.1_Missense_Mutation_p.G164R			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	164	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G164R(1)		breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						TACTTGACTCCGAATCTTTGT	0.547000													40	42					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149864513	149864513	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:149864513G>T	ENST00000435030.1	+	23	2850	c.2482G>T	c.(2482-2484)Gct>Tct	p.A828S	KIF5C_ENST00000414838.2_Missense_Mutation_p.A733S|KIF5C_ENST00000397413.1_Missense_Mutation_p.A596S|KIF5C_ENST00000464066.1_3'UTR			O60282	KIF5C_HUMAN	kinesin family member 5C	828					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGGGGGCAGTGCTGCCCAGAA	0.557000													11	15					0.000673444	0.000709978	1	1	0
LGALS9B	284194	broad.mit.edu	37	17	20358644	20358644	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:20358644G>T	ENST00000423676.3	-	5	575	c.512C>A	c.(511-513)cCa>cAa	p.P171Q	LGALS9B_ENST00000324290.5_Missense_Mutation_p.P171Q			Q3B8N2	LEG9B_HUMAN	lectin, galactoside-binding, soluble, 9B	171							sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						GGGCCTGGGTGGGAAACAGAC	0.617000													6	24					9.31168e-06	1.03799e-05	1	1	0
PLCB3	5331	broad.mit.edu	37	11	64023285	64023285	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:64023285G>A	ENST00000540288.1	+	8	793	c.690G>A	c.(688-690)ctG>ctA	p.L230L	PLCB3_ENST00000325234.5_Silent_p.L163L|PLCB3_ENST00000279230.6_Silent_p.L230L	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	230					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						ACAAGATCCTGCTGGAGATGT	0.557000													10	58					0	0	1	0	0
SYT6	148281	broad.mit.edu	37	1	114680653	114680653	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:114680653G>T	ENST00000393296.1	-	3	612	c.535C>A	c.(535-537)Ctg>Atg	p.L179M	SYT6_ENST00000369547.1_Missense_Mutation_p.L94M			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	179					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCTTGGCAGGTGGCGCTTG	0.607000													14	21					0.000219431	0.000234947	1	1	0
CUBN	8029	broad.mit.edu	37	10	16989353	16989353	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:16989353C>A	ENST00000377833.4	-	36	5288	c.5223G>T	c.(5221-5223)acG>acT	p.T1741T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1741	CUB 12.				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)	CCATGTAGAACGTTCCACCAC	0.448000													13	11					4.36969e-10	5.56229e-10	1	1	0
OR51D1	390038	broad.mit.edu	37	11	4661421	4661421	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:4661421A>T	ENST00000357605.2	+	1	477	c.401A>T	c.(400-402)gAc>gTc	p.D134V		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCTTTTGACCGCTTTGTG	0.552000													16	53					0	0	1	0	0
UMOD	7369	broad.mit.edu	37	16	20348614	20348614	+	Splice_Site	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:20348614G>C	ENST00000396134.2	-	9	1961	c.1839_splice	c.e9+1	p.P613_splice	UMOD_ENST00000570331.1_5'UTR|UMOD_ENST00000424589.1_Splice_Site_p.P613_splice|UMOD_ENST00000570689.1_Splice_Site_p.P580_splice|UMOD_ENST00000396138.4_Splice_Site_p.P629_splice|UMOD_ENST00000396142.2_Splice_Site_p.P580_splice|UMOD_ENST00000302509.4_Splice_Site_p.P580_splice	NM_001278614.1	NP_001265543.1	P07911	UROM_HUMAN	uromodulin	580					cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCAACTCACAGGCTTGCACTT	0.453000													10	11					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27204733	27204733	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:27204733G>T	ENST00000343483.6	-	1	416	c.344C>A	c.(343-345)aCg>aAg	p.T115K	HOXA9_ENST00000497089.1_Intron|HOXA9_ENST00000396345.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	115							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CGCACCGGGCGTGGGCTCCAG	0.692000			T	"""NUP98, MSI2"""	AML*								10	12					2.17888e-05	2.41729e-05	1	1	0
ZNF347	84671	broad.mit.edu	37	19	53645322	53645322	+	Silent	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:53645322T>C	ENST00000452676.2	-	5	1188	c.762A>G	c.(760-762)aaA>aaG	p.K254K	ZNF347_ENST00000334197.7_Silent_p.K253K|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.K254K	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AATTATTTGCTTTTTGCCCCT	0.363000													38	9					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13339891	13339891	+	RNA	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:13339891T>A	ENST00000602906.1	+	0	1242																				kidney(3)|lung(1)	4						CACCTACAGCTGGACAGCCAA	0.488000													11	18					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228493055	228493055	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:228493055A>T	ENST00000570156.2	+	54	14572	c.14498A>T	c.(14497-14499)cAg>cTg	p.Q4833L	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.Q1510L|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3876					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTATGTGGTCAGGAGAAGACG	0.562000													56	62					0	0	1	0	0
GTDC1	79712	broad.mit.edu	37	2	144710380	144710380	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:144710380T>A	ENST00000409214.1	-	10	1439	c.1161A>T	c.(1159-1161)ccA>ccT	p.P387P	GTDC1_ENST00000392867.3_Silent_p.P302P|GTDC1_ENST00000344850.4_Silent_p.P387P|GTDC1_ENST00000241391.5_Silent_p.P302P|GTDC1_ENST00000463875.2_Silent_p.P258P|GTDC1_ENST00000542155.1_Silent_p.P387P|GTDC1_ENST00000392869.1_Silent_p.P387P|GTDC1_ENST00000409298.1_Silent_p.P269P|AC016910.1_ENST00000422799.1_RNA	NM_001006636.3	NP_001006637.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1	387					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		TAGGACAAAGTGGGTAACACC	0.323000													7	16					0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156498364	156498364	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:156498364T>A	ENST00000361170.2	-	36	4620	c.4610A>T	c.(4609-4611)tAc>tTc	p.Y1537F		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1537					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGCAGCAGTGTAATGAAGAGA	0.478000													11	13					0	0	1	0	0
MMS22L	253714	broad.mit.edu	37	6	97677032	97677032	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:97677032C>T	ENST00000275053.4	-	14	2042	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	MMS22L_ENST00000369251.2_Missense_Mutation_p.E553K	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	593					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GAAAATTTCTCAGCCAAAACA	0.448000													21	13					0	0	1	0	0
ITSN1	6453	broad.mit.edu	37	21	35166647	35166647	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:35166647A>T	ENST00000381318.3	+	17	2115	c.1827A>T	c.(1825-1827)gaA>gaT	p.E609D	ITSN1_ENST00000437442.2_Missense_Mutation_p.E609D|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.E609D|ITSN1_ENST00000399349.1_Missense_Mutation_p.E609D|ITSN1_ENST00000399352.1_Missense_Mutation_p.E609D|ITSN1_ENST00000399353.1_Missense_Mutation_p.E572D|ITSN1_ENST00000399355.2_Missense_Mutation_p.E609D|ITSN1_ENST00000399367.3_Missense_Mutation_p.E609D|ITSN1_ENST00000399326.3_Missense_Mutation_p.E609D|ITSN1_ENST00000399338.4_Missense_Mutation_p.E609D|ITSN1_ENST00000381291.4_Missense_Mutation_p.E609D|ITSN1_ENST00000379960.5_Missense_Mutation_p.E609D	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	609	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AATTATAGGAACTAAGAGAAA	0.388000													12	13					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3583002	3583002	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:3583002G>T	ENST00000550383.1	-	11	1329	c.1141C>A	c.(1141-1143)Cca>Aca	p.P381T	P2RX5_ENST00000552050.1_Missense_Mutation_p.P321T|P2RX5_ENST00000225328.5_Missense_Mutation_p.P381T|P2RX5_ENST00000547178.1_Missense_Mutation_p.P380T|P2RX5_ENST00000551178.1_Missense_Mutation_p.P356T|P2RX5_ENST00000435558.1_Missense_Mutation_p.P381T|P2RX5_ENST00000345901.3_Missense_Mutation_p.P357T|P2RX5_ENST00000552276.1_Missense_Mutation_p.P380T																							AGCAGCCCTGGCCCAGATGTG	0.632000													19	8					5.35267e-07	6.22875e-07	1	1	0
SLC25A36	55186	broad.mit.edu	37	3	140689815	140689815	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:140689815T>A	ENST00000446041.2	+	5	657	c.432T>A	c.(430-432)acT>acA	p.T144T	SLC25A36_ENST00000453248.2_Silent_p.T118T|SLC25A36_ENST00000324194.6_Silent_p.T144T	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	144					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTATAAAGACTCGGTTACAGC	0.299000													12	13					0	0	1	0	0
NPRL3	8131	broad.mit.edu	37	16	162775	162775	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:162775C>A	ENST00000399953.3	-	5	796		c.e5-1		NPRL3_ENST00000399951.3_Splice_Site|NPRL3_ENST00000405960.3_Splice_Site	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)								protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CTGCGTTGGCCTGCAGGAGAG	0.547000													8	12					0.000274275	0.000291793	1	1	0
ACAN	176	broad.mit.edu	37	15	89398273	89398273	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:89398273C>T	ENST00000439576.2	+	12	2831	c.2457C>T	c.(2455-2457)ccC>ccT	p.P819P	ACAN_ENST00000561243.1_Silent_p.P819P|ACAN_ENST00000559004.1_Silent_p.P819P|ACAN_ENST00000352105.7_Silent_p.P819P	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	819					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGCTGTTCCCCTCAGAGGAGC	0.617000													5	4					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10096561	10096561	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:10096561C>A	ENST00000264828.3	-	31	2448	c.2363G>T	c.(2362-2364)gGg>gTg	p.G788V		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	788	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)			GCCTGGCACCCCAAGCTTGCC	0.582000													84	22					2.61628e-32	4.24871e-32	1	1	0
PCDHB11	56125	broad.mit.edu	37	5	140581526	140581526	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140581526G>T	ENST00000354757.3	+	1	2179	c.2179G>T	c.(2179-2181)Gtg>Ttg	p.V727L	PCDHB11_ENST00000536699.1_Missense_Mutation_p.V362L	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		727					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAGCTGCTCGGTGCCTAAGGG	0.652000													89	191					8.40228e-50	1.41168e-49	1	1	0
GABRA6	2559	broad.mit.edu	37	5	161128585	161128585	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:161128585G>T	ENST00000523217.1	+	9	1380	c.1138G>T	c.(1138-1140)Gtg>Ttg	p.V380L	GABRA6_ENST00000274545.5_Missense_Mutation_p.V390L	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	390					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCCAATAAAGTGCTCACGAG	0.453000										TCGA Ovarian(5;0.080)			17	39					2.94398e-08	3.56828e-08	1	1	0
FSIP2	401024	broad.mit.edu	37	2	186697907	186697907	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:186697907C>A	ENST00000343098.5	+	23	20945	c.20945C>A	c.(20944-20946)aCc>aAc	p.T6982N	FSIP2_ENST00000424728.1_Missense_Mutation_p.T6893N	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CAATGTAACACCAATATTTCC	0.373000													10	16					5.50884e-06	6.17032e-06	1	1	0
AASS	10157	broad.mit.edu	37	7	121756808	121756808	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:121756808C>T	ENST00000393376.1	-	7	868	c.773G>A	c.(772-774)aGa>aAa	p.R258K	AASS_ENST00000473553.1_Intron|AASS_ENST00000417368.2_Missense_Mutation_p.R258K			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	258	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATACACTTTTCTGAGGTCTTG	0.348000													4	45					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368726	22368726	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:22368726C>A	ENST00000332663.2	+	1	249	c.151C>A	c.(151-153)Cta>Ata	p.L51I	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACCATCAGTCTAGACCCTCA	0.413000													27	408					2.12542e-12	2.82259e-12	1	1	0
MED13L	23389	broad.mit.edu	37	12	116420268	116420268	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:116420268C>A	ENST00000281928.3	-	22	5302	c.5096G>T	c.(5095-5097)tGg>tTg	p.W1699L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1699					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCTCAACAGCCAAAAGTTCCC	0.468000													22	29					2.21704e-12	2.94091e-12	1	1	0
SPAG7	9552	broad.mit.edu	37	17	4863609	4863609	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:4863609C>T	ENST00000573366.1	-	4	952	c.94G>A	c.(94-96)Gat>Aat	p.D32N	SPAG7_ENST00000575142.1_Missense_Mutation_p.D72N|SPAG7_ENST00000206020.3_Missense_Mutation_p.D83N			O75391	SPAG7_HUMAN	sperm associated antigen 7	83						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						TCCACCACATCATGTCTGGGA	0.567000													32	6					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237802396	237802396	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:237802396G>A	ENST00000366574.2	+	46	7327	c.7010G>A	c.(7009-7011)gGa>gAa	p.G2337E	RYR2_ENST00000360064.6_Missense_Mutation_p.G2335E|RYR2_ENST00000542537.1_Missense_Mutation_p.G2321E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2337	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCTTTGAGAGGAGAAGGTGGG	0.502000													6	16					0	0	1	0	0
INPP1	3628	broad.mit.edu	37	2	191235767	191235767	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:191235767G>T	ENST00000392329.2	+	7	1539	c.839G>T	c.(838-840)tGt>tTt	p.C280F	INPP1_ENST00000322522.4_Missense_Mutation_p.C280F|INPP1_ENST00000541441.1_Missense_Mutation_p.C280F	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	280					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding	p.C280F(1)		cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	TCACGTGTGTGTGGAGATCGC	0.468000													21	47					0.000175454	0.000188553	1	1	0
TRIM10	10107	broad.mit.edu	37	6	30124746	30124746	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:30124746G>T	ENST00000449742.2	-	5	940	c.865C>A	c.(865-867)Ccg>Acg	p.P289T	TRIM10_ENST00000376704.3_Missense_Mutation_p.P289T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	289						cytoplasm	zinc ion binding			ovary(1)	1						CTCTGCAGCGGGAGGGCCTGC	0.602000													28	24					1.75199e-13	2.38926e-13	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79027122	79027122	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:79027122C>T	ENST00000446378.2	+	2	2565	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	845						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGACCATCTTCCCCAGATTTG	0.468000													11	25					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146818184	146818184	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:146818184C>A	ENST00000361727.3	+	6	1384	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	290	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GAGCATTAACCTCACTCTGGA	0.502000										HNSCC(39;0.1)			29	9					6.38683e-12	8.41474e-12	1	1	0
PPFIA3	8541	broad.mit.edu	37	19	49652572	49652572	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:49652572G>A	ENST00000334186.4	+	27	3693	c.3344G>A	c.(3343-3345)cGg>cAg	p.R1115Q	PPFIA3_ENST00000602351.1_Missense_Mutation_p.R1106Q	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1115						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		ACAGACAGGCGGCTGGACGAG	0.632000													12	28					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31197637	31197637	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:31197637C>T	ENST00000362065.4	+	2	1062	c.771C>T	c.(769-771)ttC>ttT	p.F257F	FAN1_ENST00000561607.1_Silent_p.F257F|FAN1_ENST00000565466.1_Silent_p.F257F|FAN1_ENST00000561594.1_Silent_p.F257F	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	257					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CCCCTGGATTCTCAGATAATG	0.408000								Direct reversal of damage					5	16					0	0	1	0	0
OR56A4	120793	broad.mit.edu	37	11	6024302	6024302	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:6024302C>A	ENST00000330728.4	-	1	122	c.77G>T	c.(76-78)aGa>aTa	p.R26I		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGTACATTCTAGACGTAGT	0.393000													37	14					1.07121e-22	1.65874e-22	1	1	0
EDARADD	128178	broad.mit.edu	37	1	236631573	236631573	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:236631573C>A	ENST00000359362.5	+	5	446	c.232C>A	c.(232-234)Cca>Aca	p.P78T	EDARADD_ENST00000334232.4_Missense_Mutation_p.P88T	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	88					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGATCCTCTTCCAGGTAAATG	0.388000													35	41					9.45814e-24	1.47831e-23	1	1	0
ZBTB41	360023	broad.mit.edu	37	1	197141362	197141362	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:197141362G>A	ENST00000367405.4	-	9	2070	c.2002C>T	c.(2002-2004)Cat>Tat	p.H668Y	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						TCACATTGATGAAATGTTGCT	0.214000													3	3					0	0	1	0	0
OR5V1	81696	broad.mit.edu	37	6	29323760	29323760	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:29323760G>T	ENST00000377154.1	-	4	512	c.213C>A	c.(211-213)atC>atA	p.I71I	OR5V1_ENST00000543825.1_Silent_p.I71I			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGGTGTAGCAGATGTCAATAA	0.413000													14	33					2.61681e-11	3.40157e-11	1	1	0
COL28A1	340267	broad.mit.edu	37	7	7483254	7483254	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:7483254G>T	ENST00000399429.3	-	20	1752	c.1612C>A	c.(1612-1614)Cca>Aca	p.P538T		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	538	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		GGTCCTTCTGGGCCTCTTGCT	0.537000													20	25					8.34094e-07	9.62924e-07	1	1	0
NFASC	23114	broad.mit.edu	37	1	204913514	204913514	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:204913514C>G	ENST00000367172.4	+	3	399	c.71C>G	c.(70-72)gCc>gGc	p.A24G	NFASC_ENST00000404907.1_Missense_Mutation_p.A24G|NFASC_ENST00000338586.6_Missense_Mutation_p.A24G|NFASC_ENST00000339876.6_Missense_Mutation_p.A24G|NFASC_ENST00000404076.1_Missense_Mutation_p.A24G|NFASC_ENST00000360049.4_Missense_Mutation_p.A24G|NFASC_ENST00000513543.1_Missense_Mutation_p.A24G|NFASC_ENST00000367170.4_Missense_Mutation_p.A24G|NFASC_ENST00000338515.6_Missense_Mutation_p.A24G|NFASC_ENST00000367169.4_Missense_Mutation_p.A24G|NFASC_ENST00000401399.1_Missense_Mutation_p.A24G|NFASC_ENST00000403080.1_Missense_Mutation_p.A24G|NFASC_ENST00000367171.4_Missense_Mutation_p.A24G|NFASC_ENST00000539706.1_Missense_Mutation_p.A24G			O94856	NFASC_HUMAN	neurofascin	24					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTTGGCGGAGCCATCGAAATT	0.607000													13	17					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76938718	76938718	+	Nonsense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:76938718G>C	ENST00000373344.5	-	9	2244	c.2030C>G	c.(2029-2031)tCa>tGa	p.S677*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S639*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	677					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTCTTCATCTGAATTAGATGT	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						32	50					0	0	1	0	0
PTPRO	5800	broad.mit.edu	37	12	15637083	15637083	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:15637083T>G	ENST00000281171.4	+	2	581	c.251T>G	c.(250-252)tTc>tGc	p.F84C	PTPRO_ENST00000543886.1_Missense_Mutation_p.F84C|PTPRO_ENST00000348962.2_Missense_Mutation_p.F84C	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	84	Fibronectin type-III 1.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCTGTTATTTTCAAGGCCAGT	0.383000													19	15					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813686	123813686	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:123813686G>T	ENST00000321252.2	-	1	894	c.860C>A	c.(859-861)cCa>cAa	p.P287Q		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAAGATGAATGGGTTCAAGAG	0.517000													44	99					8.00217e-19	1.1886e-18	1	1	0
NFKB1	4790	broad.mit.edu	37	4	103534719	103534719	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:103534719C>T	ENST00000226574.4	+	23	3197	c.2730C>T	c.(2728-2730)gcC>gcT	p.A910A	NFKB1_ENST00000394820.4_Silent_p.A909A|NFKB1_ENST00000600343.1_Silent_p.A729A|NFKB1_ENST00000505458.1_Silent_p.A909A	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	909	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTCGCCTGCCTCCACAAGGC	0.512000													4	23					0	0	1	0	0
TRPC1	7220	broad.mit.edu	37	3	142511803	142511803	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:142511803A>G	ENST00000273482.6	+	8	1864	c.1473A>G	c.(1471-1473)ccA>ccG	p.P491P	TRPC1_ENST00000476941.1_Silent_p.P525P	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	525					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						TCTTGGGTCCATTACAGGTAA	0.338000													9	7					0	0	1	0	0
TNKS	8658	broad.mit.edu	37	8	9567471	9567471	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:9567471G>T	ENST00000310430.6	+	10	1611	c.1585G>T	c.(1585-1587)Gct>Tct	p.A529S	TNKS_ENST00000518281.1_Missense_Mutation_p.A292S|TNKS_ENST00000520408.1_Missense_Mutation_p.A529S	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	529					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATAGCACTGTGCTGTGGCCTC	0.328000													10	9					0.00621372	0.00637781	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7981421	7981421	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:7981421G>T	ENST00000328600.2	-	2	1899	c.1738C>A	c.(1738-1740)Cag>Aag	p.Q580K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	580							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGTTCATCTGAATACCTTTT	0.343000													14	7					1.5842e-08	1.93422e-08	1	1	0
WT1-AS	51352	broad.mit.edu	37	11	32460577	32460577	+	RNA	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:32460577A>T	ENST00000395900.1	+	0	1455				WT1-AS_ENST00000525436.1_RNA|WT1-AS_ENST00000442957.1_RNA|WT1-AS_ENST00000426618.2_RNA	NR_023920.1															endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTCAACCCTTACTTTCACCCC	0.607000													10	23					0	0	1	0	0
UBA2	10054	broad.mit.edu	37	19	34949813	34949813	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:34949813T>C	ENST00000439527.2	+	13	1595	c.1097T>C	c.(1096-1098)cTc>cCc	p.L366P	UBA2_ENST00000592791.1_5'UTR|UBA2_ENST00000246548.4_Missense_Mutation_p.L462P			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	462					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GTGACTGTTCTCACCTTACAA	0.463000													25	64					0	0	1	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99621041	99621041	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:99621041G>T	ENST00000324306.6	+	2	146		c.e2-1		ZKSCAN1_ENST00000426572.1_Splice_Site|ZKSCAN1_ENST00000535170.1_Intron	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1						viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			TTATACTTCAGGAATAGTAAA	0.413000													14	21					0.0167234	0.017045	1	1	0
OR13J1	392309	broad.mit.edu	37	9	35869666	35869666	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:35869666G>A	ENST00000377981.2	-	1	795	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ACTACAGCCAGGTGTGCCAAG	0.552000													26	5					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82817918	82817918	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:82817918G>T	ENST00000265077.3	+	7	4358	c.3793G>T	c.(3793-3795)Gat>Tat	p.D1265Y	VCAN_ENST00000512590.2_Missense_Mutation_p.D1217Y|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.D1265Y	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1265	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TACCCTTGAAGATATTGTAGC	0.453000													27	28					4.59853e-10	5.8472e-10	1	1	0
DCHS1	8642	broad.mit.edu	37	11	6661434	6661434	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:6661434C>A	ENST00000299441.3	-	2	1822	c.1411G>T	c.(1411-1413)Gcc>Tcc	p.A471S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	471	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTCAAAGGCAGGTGCATTG	0.597000													4	15					1.23904e-05	1.37724e-05	1	1	0
ARHGDIG	398	broad.mit.edu	37	16	332518	332518	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:332518C>A	ENST00000219409.3	+	5	541	c.466C>A	c.(466-468)Cgg>Agg	p.R156R		NM_001176.3	NP_001167.2	Q99819	GDIR3_HUMAN	Rho GDP dissociation inhibitor (GDI) gamma	156					negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(1)|central_nervous_system(1)|large_intestine(1)	3		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CACCTACCGCCGGGGCCTGCG	0.692000													3	13					0.115264	0.11606	1	1	0
OR2T1	26696	broad.mit.edu	37	1	248569800	248569800	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:248569800G>T	ENST00000366474.1	+	1	505	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGCCTCATGGCCTATGACCG	0.542000													57	87					3.84483e-29	6.1412e-29	1	1	0
WT1	7490	broad.mit.edu	37	11	32439180	32439180	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:32439180G>A	ENST00000332351.3	-	4	1177	c.893C>T	c.(892-894)aCa>aTa	p.T298I	WT1_ENST00000530998.1_Missense_Mutation_p.T86I|WT1_ENST00000448076.3_Missense_Mutation_p.T298I|WT1_ENST00000379079.2_Missense_Mutation_p.T86I	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744.3	P19544	WT1_HUMAN	Wilms tumor 1	230					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			AAGCTGGGATGTCATTTGGTA	0.358000			"""D, Mis, N, F, S"""	EWSR1	"""Wilms, desmoplastic small round cell tumor"""	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				4	14					0	0	1	0	0
NRG2	9542	broad.mit.edu	37	5	139231208	139231208	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:139231208C>A	ENST00000541337.1	-	7	1784	c.1555G>T	c.(1555-1557)Gac>Tac	p.D519Y	NRG2_ENST00000394770.1_3'UTR|NRG2_ENST00000340391.3_Missense_Mutation_p.D382Y|NRG2_ENST00000289422.7_Missense_Mutation_p.D593Y|NRG2_ENST00000289409.4_Missense_Mutation_p.D579Y|NRG2_ENST00000545385.1_Missense_Mutation_p.D587Y|NRG2_ENST00000361474.1_Missense_Mutation_p.D585Y|CTB-35F21.4_ENST00000504413.1_RNA|NRG2_ENST00000358522.3_Missense_Mutation_p.D587Y	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	585					embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGGGGAGTCGCGAAGGGAG	0.667000													28	48					8.58068e-18	1.26647e-17	1	1	0
ARHGAP24	83478	broad.mit.edu	37	4	86491827	86491827	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:86491827G>T	ENST00000395184.1	+	2	599	c.133G>T	c.(133-135)Ggg>Tgg	p.G45W	ARHGAP24_ENST00000506421.1_3'UTR|ARHGAP24_ENST00000503995.1_Missense_Mutation_p.G45W	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	45	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		TGTGCTCAAGGGGGATCAGCT	0.473000													13	22					0.000219431	0.000234947	1	1	0
USP29	57663	broad.mit.edu	37	19	57642009	57642009	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:57642009G>T	ENST00000254181.4	+	4	2420	c.1966G>T	c.(1966-1968)Gac>Tac	p.D656Y	USP29_ENST00000598197.1_Missense_Mutation_p.D656Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	656					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGACCAGGGAGACATTTCTCT	0.498000													24	3					3.28513e-13	4.44369e-13	1	1	0
USH2A	7399	broad.mit.edu	37	1	216062177	216062177	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:216062177G>T	ENST00000366943.2	-	41	8200	c.7814C>A	c.(7813-7815)tCa>tAa	p.S2605*	RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.S2605*			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2605	Fibronectin type-III 12.				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)		ACATCCTTTTGAAGTGCAGGC	0.488000										HNSCC(13;0.011)			27	31					1.42536e-11	1.87158e-11	1	1	0
OR6C1	390321	broad.mit.edu	37	12	55714950	55714950	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:55714950C>A	ENST00000379668.2	+	1	605	c.567C>A	c.(565-567)gaC>gaA	p.D189E		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						CTTGTTCAGACACAAAATTCT	0.348000													13	18					7.03913e-09	8.69451e-09	1	1	0
LOC401127	401127	broad.mit.edu	37	4	39482763	39482763	+	RNA	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:39482763G>C	ENST00000513652.1	+	0	770																											CCGAAGGGTGGATACATCGTG	0.547000													22	37					0	0	1	0	0
ALDOB	229	broad.mit.edu	37	9	104193180	104193180	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:104193180C>A	ENST00000374855.4	-	2	115		c.e2-1		ALDOB_ENST00000468981.2_Splice_Site	NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate						fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GGTGACAGGTCTGGAAAAGAG	0.547000													17	3					8.60227e-14	1.18842e-13	1	1	0
WBSCR17	64409	broad.mit.edu	37	7	71134963	71134963	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:71134963G>T	ENST00000333538.5	+	8	1907	c.1273G>T	c.(1273-1275)Gga>Tga	p.G425*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	425						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TCAGAATCCGGGAATTGACAT	0.473000													24	6					2.39556e-15	3.40638e-15	1	1	0
MARCH11	441061	broad.mit.edu	37	5	16091111	16091111	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:16091111C>A	ENST00000332432.8	-	3	972	c.773G>T	c.(772-774)aGt>aTt	p.S258I	MARCH11_ENST00000505509.1_5'UTR	NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	258						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CCAAGTCACACTGGCTATTAA	0.438000													4	8					0.150653	0.151172	1	1	0
MTFR2	113115	broad.mit.edu	37	6	136562750	136562750	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:136562750C>A	ENST00000420702.1	-	5	735	c.346G>T	c.(346-348)Gat>Tat	p.D116Y	MTFR2_ENST00000451457.2_Missense_Mutation_p.D116Y	NM_001099286.1	NP_001092756.1			mitochondrial fission regulator 2																		GACAGTGGATCCCGAACTAGT	0.378000													14	15					2.62699e-14	3.65958e-14	1	1	0
FER1L6	654463	broad.mit.edu	37	8	124992820	124992820	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:124992820C>T	ENST00000522917.1	+	11	1385	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	FER1L6_ENST00000399018.1_Silent_p.F393F	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	393						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GTGTGTCATTCAGGGGCAGAA	0.507000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	56	54					0	0	1	0	0
VCAM1	7412	broad.mit.edu	37	1	101198057	101198057	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:101198057C>A	ENST00000294728.2	+	7	1710	c.1609C>A	c.(1609-1611)Cag>Aag	p.Q537K	VCAM1_ENST00000370119.4_Missense_Mutation_p.Q475K|VCAM1_ENST00000370115.1_Missense_Mutation_p.Q338K|VCAM1_ENST00000347652.2_Missense_Mutation_p.Q445K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	537	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	ATGCTTGAGCCAGGGCTTTCC	0.517000													22	32					4.35082e-09	5.40261e-09	1	1	0
CUL4B	8450	broad.mit.edu	37	X	119666435	119666435	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:119666435T>A	ENST00000371322.5	-	18	2342	c.2281A>T	c.(2281-2283)Agg>Tgg	p.R761W	CUL4B_ENST00000404115.3_Missense_Mutation_p.R779W|CUL4B_ENST00000336592.6_Missense_Mutation_p.R766W	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	779					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTGTTCTCCTTAACTCTCCA	0.423000													31	10					0	0	1	0	0
SPTBN4	57731	broad.mit.edu	37	19	41076607	41076607	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:41076607T>A	ENST00000352632.3	+	33	7378	c.7292T>A	c.(7291-7293)cTc>cAc	p.L2431H	SPTBN4_ENST00000598249.1_Missense_Mutation_p.L2431H|SPTBN4_ENST00000392025.1_Missense_Mutation_p.L1174H			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	2431	PH.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAGCGCGAGCTCGACGCTAAC	0.711000													40	8					0	0	1	0	0
OR13A1	79290	broad.mit.edu	37	10	45799523	45799523	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:45799523C>T	ENST00000553795.1	-	4	656	c.348G>A	c.(346-348)atG>atA	p.M116I	OR13A1_ENST00000374401.2_Missense_Mutation_p.M116I|OR13A1_ENST00000536058.1_Missense_Mutation_p.M116I	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AGAGCTGGGCCATGCAGCCCC	0.587000													5	20					0	0	1	0	0
OPRM1	4988	broad.mit.edu	37	6	154412360	154412360	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:154412360C>G	ENST00000414028.2	+	3	967	c.917C>G	c.(916-918)gCc>gGc	p.A306G	OPRM1_ENST00000522555.1_Missense_Mutation_p.A206G|OPRM1_ENST00000419506.2_Missense_Mutation_p.A306G|OPRM1_ENST00000360422.4_Missense_Mutation_p.A306G|OPRM1_ENST00000452687.2_Missense_Mutation_p.A306G|OPRM1_ENST00000428397.2_Missense_Mutation_p.A306G|OPRM1_ENST00000435918.2_Missense_Mutation_p.A306G|OPRM1_ENST00000518759.1_Missense_Mutation_p.A225G|OPRM1_ENST00000520708.1_Missense_Mutation_p.A206G|OPRM1_ENST00000434900.2_Missense_Mutation_p.A399G|OPRM1_ENST00000524163.1_Missense_Mutation_p.A306G|OPRM1_ENST00000337049.4_Missense_Mutation_p.A306G|OPRM1_ENST00000229768.5_Missense_Mutation_p.A306G|OPRM1_ENST00000330432.7_Missense_Mutation_p.A306G|OPRM1_ENST00000522236.1_Missense_Mutation_p.A206G	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	306					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATCATTAAAGCCTTGGTTACA	0.478000													37	7					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65479982	65479982	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:65479982C>G	ENST00000519389.1	+	19	3418	c.3239C>G	c.(3238-3240)cCa>cGa	p.P1080R	HEPH_ENST00000343002.2_Missense_Mutation_p.P1026R|HEPH_ENST00000419594.1_Missense_Mutation_p.P837R|HEPH_ENST00000441993.2_Missense_Mutation_p.P1029R|HEPH_ENST00000374727.3_Missense_Mutation_p.P1029R|HEPH_ENST00000336279.5_Missense_Mutation_p.P759R			Q9BQS7	HEPH_HUMAN	hephaestin	1026	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GATCTGTTCCCAGGGACTTTT	0.527000													11	19					0	0	1	0	0
ANAPC5	51433	broad.mit.edu	37	12	121764982	121764982	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:121764982C>A	ENST00000261819.3	-	11	1478	c.1357G>T	c.(1357-1359)Gcg>Tcg	p.A453S	ANAPC5_ENST00000344395.4_Missense_Mutation_p.A341S|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A119S|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A341S|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A440S|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	453					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCATTCACCGCCTCCAGGCTG	0.612000													23	29					4.16121e-05	4.57302e-05	1	1	0
ACIN1	22985	broad.mit.edu	37	14	23528402	23528402	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:23528402G>C	ENST00000262710.1	-	19	4308	c.3981C>G	c.(3979-3981)agC>agG	p.S1327R	ACIN1_ENST00000555053.1_Missense_Mutation_p.S1314R|ACIN1_ENST00000457657.1_Missense_Mutation_p.S1287R|ACIN1_ENST00000357481.2_Missense_Mutation_p.S569R|ACIN1_ENST00000338631.6_Missense_Mutation_p.S600R|ACIN1_ENST00000557515.1_Missense_Mutation_p.S568R|ACIN1_ENST00000397341.3_Missense_Mutation_p.S569R|ACIN1_ENST00000605057.1_Missense_Mutation_p.S1269R	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1327	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCGACTCCGGCTTCTGCTGT	0.657000											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	51	17					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161569248	161569248	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:161569248G>C	ENST00000356592.3	+	7	1308	c.848G>C	c.(847-849)tGc>tCc	p.C283S	GABRG2_ENST00000393933.4_Missense_Mutation_p.C188S|GABRG2_ENST00000361925.4_Missense_Mutation_p.C283S|GABRG2_ENST00000414552.2_Missense_Mutation_p.C323S	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	283					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TATATCCCCTGCACACTCATT	0.438000													11	31					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75812366	75812366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:75812366G>A	ENST00000322507.8	-	56	8671	c.8362C>T	c.(8362-8364)Cag>Tag	p.Q2788*	COL12A1_ENST00000416123.2_Nonsense_Mutation_p.Q2712*|COL12A1_ENST00000345356.6_Nonsense_Mutation_p.Q1624*|COL12A1_ENST00000483888.2_Nonsense_Mutation_p.Q2788*	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2788	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGAGGACCCTGGGGGCCTGGA	0.502000													12	32					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120628540	120628540	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:120628540C>A	ENST00000273666.6	+	2	386	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	STXBP5L_ENST00000497029.1_Missense_Mutation_p.P39T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P39T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P39T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P39T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	39					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TTCCGTACATCCGGCGGGGAC	0.502000													14	25					1.5842e-08	1.93422e-08	1	1	0
PAPD7	11044	broad.mit.edu	37	5	6753097	6753097	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:6753097G>C	ENST00000230859.6	+	12	1510	c.1381G>C	c.(1381-1383)Gcc>Ccc	p.A461P		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	461					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GTCTTCCCCGGCCATTCCCTC	0.552000													52	57					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161569247	161569247	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:161569247T>C	ENST00000356592.3	+	7	1307	c.847T>C	c.(847-849)Tgc>Cgc	p.C283R	GABRG2_ENST00000393933.4_Missense_Mutation_p.C188R|GABRG2_ENST00000361925.4_Missense_Mutation_p.C283R|GABRG2_ENST00000414552.2_Missense_Mutation_p.C323R	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	283					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTATATCCCCTGCACACTCAT	0.438000													12	32					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69972209	69972209	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:69972209G>T	ENST00000355303.5	+	10	1310	c.1005G>T	c.(1003-1005)ctG>ctT	p.L335L	ANO1_ENST00000398543.2_Silent_p.L219L|ANO1_ENST00000538023.1_Silent_p.L335L|ANO1_ENST00000530676.1_Silent_p.L219L|ANO1_ENST00000531349.1_Silent_p.L70L|ANO1_ENST00000316296.5_Silent_p.L307L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	335					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TCGCCTGGCTGGGCGTGTACA	0.547000													60	29					4.88506e-25	7.68688e-25	1	1	0
PDILT	204474	broad.mit.edu	37	16	20373761	20373761	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:20373761G>C	ENST00000302451.4	-	10	1629	c.1381C>G	c.(1381-1383)Cca>Gca	p.P461A		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	461					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTGAAGAATGGGTACCGGTCC	0.468000													12	28					0	0	1	0	0
SLC39A13	91252	broad.mit.edu	37	11	47436401	47436401	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:47436401C>T	ENST00000362021.4	+	8	902	c.860C>T	c.(859-861)gCg>gTg	p.A287V	SLC39A13_ENST00000533076.1_Missense_Mutation_p.A287V|SLC39A13_ENST00000524928.1_3'UTR|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A287V	NM_001128225.2	NP_001121697.1	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	287					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		CTCTCAACAGCGCTGGGGGGC	0.657000													25	76					0	0	1	0	0
LY6G5C	80741	broad.mit.edu	37	6	31648052	31648052	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:31648052C>T	ENST00000375858.3	-	1	98	c.90G>A	c.(88-90)ctG>ctA	p.L30L	LY6G5C_ENST00000375860.2_Silent_p.L31L|LY6G5C_ENST00000474395.1_Intron|LY6G5C_ENST00000383237.4_Silent_p.L33L	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	33						extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						TCATCATGACCAGCACTATTA	0.567000													19	25					0	0	1	0	0
NPHP4	261734	broad.mit.edu	37	1	6008259	6008259	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:6008259C>A	ENST00000378156.4	-	8	1128	c.863G>T	c.(862-864)cGt>cTt	p.R288L	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	288					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CACGCCCACACGCAGGCGCCG	0.637000													6	16					0.00116845	0.00122299	1	1	0
ELFN2	114794	broad.mit.edu	37	22	37769305	37769305	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:37769305G>A	ENST00000402918.1	-	3	3055	c.2270C>T	c.(2269-2271)tCc>tTc	p.S757F	ELFN2_ENST00000349653.3_Missense_Mutation_p.S757F|RP1-63G5.5_ENST00000430883.1_RNA	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	757						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					CTCGGGGCTGGAGGAGTACCC	0.632000													18	45					0	0	1	0	0
PSG1	5669	broad.mit.edu	37	19	43373185	43373185	+	Splice_Site	SNP	C	C	T	rs4030951		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:43373185C>T	ENST00000244296.2	-	4	848	c.709_splice	c.e4-1	p.P237_splice	PSG1_ENST00000595356.1_Splice_Site_p.P237_splice|PSG1_ENST00000595124.1_Splice_Site_p.P144_splice|PSG1_ENST00000436291.2_Splice_Site_p.P237_splice|PSG1_ENST00000312439.6_Splice_Site_p.P237_splice|PSG1_ENST00000403380.3_Splice_Site_p.P144_splice	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1									p.P237P(3)		breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGGGCAGCTTCGCTGTGTGGA	0.473000													52	273					0	0	1	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508623	106508623	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:106508623C>A	ENST00000359195.3	+	2	927	c.617C>A	c.(616-618)cCc>cAc	p.P206H	PIK3CG_ENST00000496166.1_Missense_Mutation_p.P206H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.P206H	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	206					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACGTCCAAGCCCCTCCCGGAG	0.627000													75	63					4.81439e-37	7.90646e-37	1	1	0
FER1L6	654463	broad.mit.edu	37	8	125061922	125061922	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:125061922C>A	ENST00000522917.1	+	22	3005	c.2799C>A	c.(2797-2799)ccC>ccA	p.P933P	FER1L6_ENST00000399018.1_Silent_p.P933P|FER1L6-AS2_ENST00000601180.1_RNA|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	933						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGAGCCCCCCAGGTTATGCT	0.502000													20	44					1.00905e-13	1.38093e-13	1	1	0
LRP2	4036	broad.mit.edu	37	2	170150674	170150674	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:170150674A>G	ENST00000263816.3	-	6	921	c.636T>C	c.(634-636)agT>agC	p.S212S	LRP2_ENST00000443831.1_Silent_p.S212S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	212	LDL-receptor class A 5.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATGTTCGTCACTGCCGTCTT	0.453000													24	44					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10600329	10600329	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:10600329C>A	ENST00000171111.5	-	4	2073	c.1526G>T	c.(1525-1527)gGg>gTg	p.G509V	KEAP1_ENST00000393623.2_Missense_Mutation_p.G509V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	509					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			CCCACCTGCCCCGCTTCGGAT	0.597000													33	9					1.69901e-12	2.26147e-12	1	1	0
OR2W5	441932	broad.mit.edu	37	1	247655347	247655347	+	RNA	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:247655347G>T	ENST00000522351.1	+	0	978							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AAACTTCTGGGGTGGGAGAAA	0.502000													37	37					1.03484e-13	1.41456e-13	1	1	0
SHC3	53358	broad.mit.edu	37	9	91793333	91793333	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:91793333C>A	ENST00000375835.4	-	1	349	c.43G>T	c.(43-45)Gtg>Ttg	p.V15L	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	15					central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						ACCGATGTCACCGAGTCATTC	0.701000													37	5					1.49673e-21	2.29329e-21	1	1	0
SI	6476	broad.mit.edu	37	3	164735586	164735586	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:164735586C>A	ENST00000264382.3	-	30	3658	c.3596G>T	c.(3595-3597)gGc>gTc	p.G1199V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1199	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)	TGGAGTTGGGCCCAAAAACAT	0.333000										HNSCC(35;0.089)			8	13					0.0381472	0.0386108	1	1	0
MED12	9968	broad.mit.edu	37	X	70357793	70357793	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:70357793G>T	ENST00000333646.6	+	41	6252	c.6053_splice	c.e41+1	p.R2018_splice	MED12_ENST00000374102.1_Splice_Site_p.R2014_splice|MED12_ENST00000374080.3_Splice_Site_p.R2015_splice|MED12_ENST00000478889.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2015	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCACTCAAAGGTACCCAAAG	0.547000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						11	32					4.68919e-08	5.64251e-08	1	1	0
CMYA5	202333	broad.mit.edu	37	5	79031291	79031291	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:79031291G>A	ENST00000446378.2	+	2	6734	c.6703G>A	c.(6703-6705)Gat>Aat	p.D2235N		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2235						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAAACCAGCTGATCATTCATT	0.383000													10	35					0	0	1	0	0
CLEC6A	93978	broad.mit.edu	37	12	8629983	8629983	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:8629983A>T	ENST00000382073.3	+	6	739	c.553A>T	c.(553-555)Aca>Tca	p.T185S		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	185	C-type lectin.				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					CTGGAAACCTACAGGATGGGG	0.383000													24	23					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65390483	65390483	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:65390483C>A	ENST00000519389.1	+	2	412	c.233C>A	c.(232-234)gCc>gAc	p.A78D	HEPH_ENST00000343002.2_Missense_Mutation_p.A24D|HEPH_ENST00000419594.1_Missense_Mutation_p.A27D|HEPH_ENST00000441993.2_Missense_Mutation_p.A27D|HEPH_ENST00000374727.3_Missense_Mutation_p.A27D|HEPH_ENST00000336279.5_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	24	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ACTGATGGAGCCACTCGAGTC	0.542000													8	11					0.00448238	0.00463338	1	1	0
AOC4P	90586	broad.mit.edu	37	17	41019892	41019892	+	RNA	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:41019892C>T	ENST00000585538.1	+	0	731					NR_002773.1																						ACTGTTGCTTCTACAAGCGCC	0.572000													23	34					0	0	1	0	0
LPAR3	23566	broad.mit.edu	37	1	85331316	85331316	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:85331316G>T	ENST00000440886.1	-	1	526	c.488C>A	c.(487-489)cCc>cAc	p.P163H	LPAR3_ENST00000491034.1_Intron|LPAR3_ENST00000370611.3_Missense_Mutation_p.P163H			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	163					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GCCCAGTGTGGGGACCGCCCC	0.532000													106	85					4.58063e-37	7.53317e-37	1	1	0
SCN10A	6336	broad.mit.edu	37	3	38805007	38805007	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:38805007G>A	ENST00000449082.2	-	5	679	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	227					sensory perception	voltage-gated sodium channel complex		p.S227Y(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGGATCACAGAAACTGTTTT	0.443000													30	6					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20230091	20230091	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:20230091G>A	ENST00000418063.2	+	4	1840	c.1728G>A	c.(1726-1728)ttG>ttA	p.L576L	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	576						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CTTTTAACTTGTCCTCAGACC	0.378000													9	2					0	0	1	0	0
GPAA1	8733	broad.mit.edu	37	8	145138862	145138862	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:145138862G>C	ENST00000355091.4	+	5	656	c.535G>C	c.(535-537)Gat>Cat	p.D179H	GPAA1_ENST00000361036.6_Missense_Mutation_p.D119H|GPAA1_ENST00000527144.1_3'UTR	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	179					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding	p.D179Y(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TTGGGCCAAAGATATCGTCTT	0.562000													11	118					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676177	54676177	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:54676177G>C	ENST00000474759.1	+	11	1124	c.1076G>C	c.(1075-1077)aGt>aCt	p.S359T	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.S359T|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.S359T|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.S265T	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	359	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGACAAGGAAGTATCTGCAGT	0.403000													5	0					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163374645	163374645	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:163374645G>A	ENST00000332142.5	-	4	586	c.487C>T	c.(487-489)Cct>Tct	p.P163S	KCNH7_ENST00000328032.4_Missense_Mutation_p.P163S|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	163					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CTCAGACCAGGGAATTTGAAC	0.393000													10	26					0	0	1	0	0
SCG3	29106	broad.mit.edu	37	15	51974715	51974715	+	Splice_Site	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:51974715C>G	ENST00000220478.3	+	2	487	c.82_splice	c.e2-1	p.D28_splice	SCG3_ENST00000542355.2_Intron	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	28					platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTATTCTAGACAAATCTCTAC	0.254000													6	4					0	0	1	0	0
PHLDA3	23612	broad.mit.edu	37	1	201437799	201437799	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:201437799T>A	ENST00000367311.3	-	1	513	c.116A>T	c.(115-117)cAg>cTg	p.Q39L	PHLDA3_ENST00000367309.1_Missense_Mutation_p.Q39L	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	39	PH.				anatomical structure morphogenesis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of protein kinase B signaling cascade	cytoplasm|intracellular membrane-bounded organelle|plasma membrane	identical protein binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-5-phosphate binding			lung(1)|prostate(1)	2						CTCGAAGAGCTGCAGCCCGCG	0.697000													8	32					0	0	1	0	0
LINS	55180	broad.mit.edu	37	15	101120802	101120802	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:101120802C>T	ENST00000314742.8	-	2	468	c.246G>A	c.(244-246)atG>atA	p.M82I	LINS_ENST00000559149.1_5'UTR|LINS_ENST00000561308.1_Missense_Mutation_p.M82I|LINS_ENST00000560133.1_Intron	NM_001040616.2	NP_001035706.1	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	82										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TGGAACCGCTCATCTGAGAGT	0.498000													4	17					0	0	1	0	0
ASTL	431705	broad.mit.edu	37	2	96795700	96795700	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:96795700C>A	ENST00000342380.2	-	8	736	c.737G>T	c.(736-738)cGt>cTt	p.R246L		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	246					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GGGCAGCCCACGCCGGCTGAA	0.647000													41	42					2.66277e-13	3.61863e-13	1	1	0
MUC16	94025	broad.mit.edu	37	19	9062812	9062812	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:9062812C>T	ENST00000397910.4	-	3	24837	c.24634G>A	c.(24634-24636)Gag>Aag	p.E8212K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8214	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAGTACTCTCTGGTGTAGAC	0.458000													21	8					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75070272	75070272	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:75070272C>A	ENST00000453279.2	-	5	1051	c.187G>T	c.(187-189)Gaa>Taa	p.E63*	POM121C_ENST00000257665.5_Nonsense_Mutation_p.E305*	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	305	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						ATTTGGTCTTCTTCCTCCACT	0.473000													73	22					7.68447e-34	1.25492e-33	1	1	0
KIF4A	24137	broad.mit.edu	37	X	69637807	69637807	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:69637807G>T	ENST00000374403.3	+	29	3407	c.3325G>T	c.(3325-3327)Gac>Tac	p.D1109Y		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1109	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CTGTGGTGTGGACTGTTGCTG	0.522000													19	35					7.41877e-09	9.14407e-09	1	1	0
GJB4	127534	broad.mit.edu	37	1	35227227	35227227	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:35227227G>A	ENST00000339480.1	+	2	742	c.372G>A	c.(370-372)cgG>cgA	p.R124R	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	124			R -> Q (may be associated with deafness).		cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCAAGAAGCGGGGCGGACTGT	0.592000													20	53					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471245	4471245	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:4471245G>A	ENST00000325719.4	+	1	721	c.676G>A	c.(676-678)Gca>Aca	p.A226T		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TATTCTTCAGGCAGTTCTACT	0.463000													83	52					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122641414	122641414	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:122641414T>G	ENST00000303924.4	-	2	704	c.167A>C	c.(166-168)cAc>cCc	p.H56P		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	56						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GATGATGAGGTGTGATGCCAA	0.408000													59	51					0	0	1	0	0
SAGE1	55511	broad.mit.edu	37	X	134989482	134989482	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:134989482C>A	ENST00000535938.1	+	9	1055	c.888C>A	c.(886-888)gtC>gtA	p.V296V	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Silent_p.V296V|SAGE1_ENST00000370709.3_Silent_p.V296V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	296										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					ATTCCACCGTCCCTCACAATG	0.418000													29	13					9.78306e-22	1.50291e-21	1	1	0
HPS5	11234	broad.mit.edu	37	11	18308238	18308238	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:18308238G>C	ENST00000396253.3	-	18	2857	c.2395C>G	c.(2395-2397)Ctt>Gtt	p.L799V	HPS5_ENST00000349215.3_Missense_Mutation_p.L913V|HPS5_ENST00000537258.1_Missense_Mutation_p.L20V|HPS5_ENST00000438420.2_Missense_Mutation_p.L799V|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	913						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGTTGCAGAAGGGACTCAAGA	0.448000									Hermansky-Pudlak syndrome				4	11					0	0	1	0	0
SPTAN1	6709	broad.mit.edu	37	9	131388123	131388123	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:131388123C>G	ENST00000372739.3	+	48	6255	c.6145C>G	c.(6145-6147)Ctc>Gtc	p.L2049V	SPTAN1_ENST00000372731.4_Missense_Mutation_p.L2044V|SPTAN1_ENST00000358161.5_Missense_Mutation_p.L2049V	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2044					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGATCAGCTTCTCGCCGCCAA	0.577000													68	29					0	0	1	0	0
BCAS2	10286	broad.mit.edu	37	1	115124237	115124237	+	Translation_Start_Site	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:115124237G>A	ENST00000369541.3	-	0	23				BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2						mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTTGCCTGCGTTTTCTGCGT	0.507000													3	8					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37618986	37618986	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:37618986G>A	ENST00000447079.4	+	1	695	c.662G>A	c.(661-663)aGg>aAg	p.R221K	CDK12_ENST00000430627.2_Missense_Mutation_p.R221K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	221					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CGGAGATCCAGGAGCCCCCAC	0.502000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			40	64					0	0	1	0	0
C5orf54	63920	broad.mit.edu	37	5	159822492	159822492	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:159822492C>T	ENST00000408953.3	-	2	513	c.6G>A	c.(4-6)tcG>tcA	p.S2S	C5orf54_ENST00000523213.1_Silent_p.S2S	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	2										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						tgcgtttcttcgacatggcac	0.428000													16	38					0	0	1	0	0
SETDB2	83852	broad.mit.edu	37	13	50051171	50051171	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:50051171G>C	ENST00000354234.4	+	6	1771	c.865G>C	c.(865-867)Gac>Cac	p.D289H	SETDB2_ENST00000317257.8_Missense_Mutation_p.D301H|SETDB2_ENST00000258672.5_Missense_Mutation_p.D289H	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	301					cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		GGGCTGCATAGACATGTGAGT	0.378000													9	15					0	0	1	0	0
OR51B5	282763	broad.mit.edu	37	11	5364574	5364574	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:5364574G>C	ENST00000300773.2	-	1	235	c.181C>G	c.(181-183)Ctg>Gtg	p.L61V	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGCCAGAAAGAAGTAC	0.512000													16	15					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513529	78513529	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:78513529G>A	ENST00000397909.2	+	15	3726	c.3553G>A	c.(3553-3555)Ggg>Agg	p.G1185R	NAV3_ENST00000266692.7_Missense_Mutation_p.G1185R|NAV3_ENST00000536525.2_Missense_Mutation_p.G1185R|NAV3_ENST00000228327.6_Missense_Mutation_p.G1185R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1185	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AACTAAAATTGGGTCAGGGCG	0.507000										HNSCC(70;0.22)			29	42					0	0	1	0	0
HIST1H1D	3007	broad.mit.edu	37	6	26235144	26235144	+	Silent	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:26235144T>C	ENST00000244534.5	-	1	72	c.18A>G	c.(16-18)ccA>ccG	p.P6P		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	6					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				TAGGAGCAAGTGGAGCAGTCT	0.498000													43	22					0	0	1	0	0
FAM92B	339145	broad.mit.edu	37	16	85141550	85141550	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:85141550C>T	ENST00000539556.1	-	4	483	c.328G>A	c.(328-330)Gag>Aag	p.E110K		NM_198491.1	NP_940893.1	Q6ZTR7	FA92B_HUMAN	family with sequence similarity 92, member B	110										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						TTCTTGATCTCAGCCTGCAGA	0.512000													75	16					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45148539	45148539	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:45148539C>A	ENST00000258770.3	-	2	419	c.298G>T	c.(298-300)Gca>Tca	p.A100S	TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Missense_Mutation_p.A100S|TBRG4_ENST00000494076.1_Missense_Mutation_p.A100S|TBRG4_ENST00000395655.4_Missense_Mutation_p.A100S	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	100					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						ACCATTGCTGCTTGATTGCTG	0.507000													20	45					2.4624e-09	3.06747e-09	1	1	0
UBN2	254048	broad.mit.edu	37	7	138946159	138946159	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:138946159A>G	ENST00000288561.8	+	6	1067	c.818A>G	c.(817-819)aAt>aGt	p.N273S	UBN2_ENST00000473989.2_Missense_Mutation_p.N356S	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	356	Lys-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CCTTCTCTGAATAAACCCCCA	0.468000													18	25					0	0	1	0	0
MCPH1	79648	broad.mit.edu	37	8	6272336	6272336	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:6272336C>T	ENST00000344683.5	+	3	241	c.165C>T	c.(163-165)ggC>ggT	p.G55G	MCPH1_ENST00000522905.1_Silent_p.G55G|MCPH1_ENST00000519480.1_Silent_p.G55G	NM_024596.3	NP_078872.2	Q8NEM0	MCPH1_HUMAN	microcephalin 1	55	BRCT 1.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TCAAAGATGGCTACCAGAGCA	0.383000													5	11					0	0	1	0	0
CYSLTR2	57105	broad.mit.edu	37	13	49281497	49281497	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:49281497G>C	ENST00000282018.3	+	1	547	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	182					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	TGAGCAGAACGGCAGTGTCAC	0.483000													27	44					0	0	1	0	0
OR6C74	254783	broad.mit.edu	37	12	55641515	55641515	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:55641515G>T	ENST00000343870.4	+	1	534	c.444G>T	c.(442-444)atG>atT	p.M148I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CTTCATGGATGGCTGGCTTCC	0.483000													48	50					6.61955e-31	1.06168e-30	1	1	0
POLQ	10721	broad.mit.edu	37	3	121151853	121151853	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:121151853C>A	ENST00000264233.5	-	29	7699	c.7571G>T	c.(7570-7572)gGg>gTg	p.G2524V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2524					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GCAGAACATCCCTTGCAGTTT	0.403000								DNA polymerases (catalytic subunits)					5	16					0.00116845	0.00122299	1	1	0
ARAP3	64411	broad.mit.edu	37	5	141035435	141035435	+	Splice_Site	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:141035435C>T	ENST00000239440.4	-	30	4038		c.e30+1		ARAP3_ENST00000513878.1_Splice_Site|ARAP3_ENST00000508305.1_Splice_Site|ARAP3_ENST00000512390.1_Splice_Site	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3						cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTTCCCCTCACCTGGGCTTTA	0.577000													29	55					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18284628	18284628	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:18284628G>T	ENST00000377369.2	+	10	1850	c.1577G>T	c.(1576-1578)aGt>aTt	p.S526I	SLC39A12_ENST00000539911.1_Missense_Mutation_p.S392I|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S489I|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S525I	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	526					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCTATAGGCAGTATGACAGCC	0.333000													13	9					0.00244969	0.00255259	1	1	0
MACF1	23499	broad.mit.edu	37	1	39801864	39801864	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:39801864C>G	ENST00000564288.1	+	37	10381	c.9604C>G	c.(9604-9606)Cta>Gta	p.L3202V	MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.L3207V|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.L3239V|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.L1642V|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3207					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTCAGGTATCTAGAATTCTC	0.368000													19	23					0	0	1	0	0
SYT2	127833	broad.mit.edu	37	1	202574833	202574833	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:202574833G>T	ENST00000367267.1	-	2	260	c.68C>A	c.(67-69)cCc>cAc	p.P23H	SYT2_ENST00000367268.4_Missense_Mutation_p.P23H	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	23					neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGGTCCAATGGGCATCGTGGC	0.547000													24	23					3.83957e-06	4.34233e-06	1	1	0
CARD11	84433	broad.mit.edu	37	7	2979524	2979524	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:2979524C>A	ENST00000396946.4	-	6	1126	c.723G>T	c.(721-723)gaG>gaT	p.E241D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	241					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)		GCTTACATTCCTCCTCCATCT	0.478000			Mis		DLBCL								44	43					9.9998e-32	1.61493e-31	1	1	0
GCLC	2729	broad.mit.edu	37	6	53365075	53365075	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:53365075G>C	ENST00000229416.6	-	14	2034	c.1551C>G	c.(1549-1551)ctC>ctG	p.L517L		NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	517					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	CTATGCTCATGAGGGTGTACT	0.582000													16	52					0	0	1	0	0
C17orf78	284099	broad.mit.edu	37	17	35734819	35734819	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:35734819C>A	ENST00000300618.4	+	2	111	c.61C>A	c.(61-63)Ctc>Atc	p.L21I	ACACA_ENST00000353139.5_Intron|ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.L21I	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	21						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				ACCCCCAGACCTCAGAGATAG	0.502000													16	22					9.16793e-09	1.12524e-08	1	1	0
MGST2	4258	broad.mit.edu	37	4	140599756	140599756	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:140599756G>A	ENST00000265498.1	+	2	370	c.118G>A	c.(118-120)Gtc>Atc	p.V40I	MGST2_ENST00000515137.1_Intron|MGST2_ENST00000506797.1_Missense_Mutation_p.V40I	NM_001204366.1|NM_002413.4	NP_001191295.1|NP_002404.1	Q99735	MGST2_HUMAN	microsomal glutathione S-transferase 2	40					glutathione biosynthetic process|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane|plasma membrane	enzyme activator activity|glutathione peroxidase activity|glutathione transferase activity|leukotriene-C4 synthase activity			lung(1)|ovary(1)	2	all_hematologic(180;0.162)				Glutathione(DB00143)	GCCCCCAGCAGTCACTGGGTC	0.453000													6	16					0	0	1	0	0
NNT	23530	broad.mit.edu	37	5	43645476	43645476	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:43645476C>T	ENST00000264663.5	+	10	1529	c.1308C>T	c.(1306-1308)ttC>ttT	p.F436F	NNT_ENST00000512996.2_Silent_p.F305F|NNT_ENST00000344920.4_Silent_p.F436F	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	436					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	AAGTGATTTTCCCAGCTCCCA	0.363000													26	19					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924361	24924361	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:24924361T>C	ENST00000329468.2	+	1	3821	c.3347T>C	c.(3346-3348)gTt>gCt	p.V1116A		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		GGCCCTTGTGTTCCTGCTTTT	0.488000													24	59					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140784470	140784470	+	Nonsense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140784470C>T	ENST00000573521.1	+	1	1951	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCATGGCCAGCCCCCTCT	0.607000													30	36					0	0	1	0	0
NAPEPLD	222236	broad.mit.edu	37	7	102755587	102755587	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:102755587C>T	ENST00000417955.1	-	4	1130	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	NAPEPLD_ENST00000465647.1_Missense_Mutation_p.E326K|NAPEPLD_ENST00000341533.4_Missense_Mutation_p.E326K|NAPEPLD_ENST00000455523.2_Missense_Mutation_p.E399K|NAPEPLD_ENST00000427257.1_Missense_Mutation_p.E326K			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	326					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTTACAGCTTCTTCTGGGTCT	0.358000													12	54					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43625285	43625285	+	RNA	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:43625285T>A	ENST00000586348.1	+	0	45																											ACTTTCAGACTGCACCAGTGA	0.507000													42	64					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2203259	2203259	+	Missense_Mutation	SNP	C	C	A	rs143294643		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:2203259C>A	ENST00000544865.1	-	2	1205	c.695G>T	c.(694-696)gGc>gTc	p.G232V	SMG6_ENST00000263073.5_Missense_Mutation_p.G263V			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	263	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTTGTTGCTGCCAGCTGAGCT	0.642000													73	20					2.26907e-38	3.7422e-38	1	1	0
OR6X1	390260	broad.mit.edu	37	11	123624918	123624918	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:123624918G>T	ENST00000327930.2	-	1	335	c.309C>A	c.(307-309)ttC>ttA	p.F103L		NM_001005188.1	NP_001005188.1	Q8NH79	OR6X1_HUMAN	olfactory receptor, family 6, subfamily X, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TGCCCACGAAGAAGTGGAAGA	0.527000													17	25					3.52763e-06	3.99342e-06	1	1	0
SEMA6C	10500	broad.mit.edu	37	1	151109458	151109458	+	Silent	SNP	A	A	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:151109458A>C	ENST00000341697.3	-	11	2540	c.849T>G	c.(847-849)ctT>ctG	p.L283L				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	283	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGTTGAGCCGAAGCTTCAGGA	0.572000													78	354					0	0	1	0	0
ROCK1	6093	broad.mit.edu	37	18	18586686	18586686	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:18586686C>T	ENST00000399799.1	-	15	2552	c.1612G>A	c.(1612-1614)Gag>Aag	p.E538K		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1	538	Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					GACAGCTTCTCATTAGCAAGC	0.299000													47	9					0	0	1	0	0
DDX11	1663	broad.mit.edu	37	12	31249672	31249672	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:31249672G>A	ENST00000407793.2	+	16	1874	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	DDX11_ENST00000545668.1_Silent_p.T541T|DDX11_ENST00000542838.1_Silent_p.T541T|DDX11_ENST00000539673.1_3'UTR|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.T515T|DDX11_ENST00000350437.4_Silent_p.T541T	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	541					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)					AGCCCAGGACGACTGAAGGTG	0.602000										Multiple Myeloma(12;0.14)			27	21					0	0	1	0	0
THNSL2	55258	broad.mit.edu	37	2	88484868	88484868	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:88484868G>T	ENST00000324166.5	+	7	2790	c.1099G>T	c.(1099-1101)Gtg>Ttg	p.V367L	THNSL2_ENST00000496844.1_Intron|THNSL2_ENST00000449349.1_Intron|THNSL2_ENST00000377254.3_Intron|THNSL2_ENST00000358591.2_Missense_Mutation_p.V367L|THNSL2_ENST00000402102.1_Intron|THNSL2_ENST00000343544.4_Intron	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	367					threonine biosynthetic process		threonine synthase activity			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						AGTGACATCCGTGTCAGTGTC	0.577000													18	35					1.33834e-09	1.67796e-09	1	1	0
OR52R1	119695	broad.mit.edu	37	11	4825129	4825129	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:4825129G>A	ENST00000380382.1	-	1	718	c.719C>T	c.(718-720)cCc>cTc	p.P240L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.P161L			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCAGAAGGGGCTCACCCA	0.557000													12	59					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158583517	158583517	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:158583517G>C	ENST00000368148.3	-	50	7163	c.6983C>G	c.(6982-6984)cCa>cGa	p.P2328R	SPTA1_ENST00000368147.3_Missense_Mutation_p.P2325R	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	2328	EF-hand 2.				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTACCTCCCTGGATCCACAGC	0.498000													10	29					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7579311	7579311	+	Splice_Site	SNP	C	C	A	rs68140816		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:7579311C>A	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGGCAACTGACCGTGCAAGTC	0.532000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			32	16					7.11191e-15	1.00272e-14	1	1	0
MAP3K3	4215	broad.mit.edu	37	17	61759152	61759152	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:61759152C>T	ENST00000361357.3	+	8	940	c.622C>T	c.(622-624)Cct>Tct	p.P208S	MAP3K3_ENST00000584573.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000579585.1_Missense_Mutation_p.P208S|MAP3K3_ENST00000577395.1_Missense_Mutation_p.P177S|MAP3K3_ENST00000361733.3_Missense_Mutation_p.P177S	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	177					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CCGAAGCTCACCTCCCCCTGG	0.607000													11	105					0	0	1	0	0
KLK6	5653	broad.mit.edu	37	19	51465018	51465018	+	Nonsense_Mutation	SNP	G	G	T	rs143557050	byFrequency	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:51465018G>T	ENST00000376851.3	-	5	1003	c.564C>A	c.(562-564)taC>taA	p.Y188*	KLK6_ENST00000310157.2_Nonsense_Mutation_p.Y188*|KLK6_ENST00000391808.1_Nonsense_Mutation_p.Y81*|KLK6_ENST00000594641.1_Nonsense_Mutation_p.Y188*|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Nonsense_Mutation_p.Y81*	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	188	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AATCCTTCCCGTACTTCTCAT	0.557000													19	8					1.33834e-09	1.67796e-09	1	1	0
ABCB11	8647	broad.mit.edu	37	2	169780262	169780262	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:169780262G>A	ENST00000263817.6	-	28	3960	c.3836C>T	c.(3835-3837)aCc>aTc	p.T1279I		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1279	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	GTTCTGGATGGTGGACAAGCG	0.507000													9	25					0	0	1	0	0
PRB3	5544	broad.mit.edu	37	12	11420643	11420643	+	RNA	SNP	C	C	T	rs71057717		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:11420643C>T	ENST00000381842.3	-	0	577				PRB3_ENST00000538488.1_RNA|PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding	p.P180P(1)|p.P159P(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTGGCTTTCCCGGATGAGGCG	0.632000													26	411					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201332529	201332529	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:201332529C>G	ENST00000509001.1	-	11	751	c.465G>C	c.(463-465)gaG>gaC	p.E155D	TNNT2_ENST00000236918.7_Missense_Mutation_p.E160D|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367317.4_Missense_Mutation_p.E155D|TNNT2_ENST00000367320.2_Missense_Mutation_p.E125D|TNNT2_ENST00000367315.2_Missense_Mutation_p.E155D|TNNT2_ENST00000360372.4_Missense_Mutation_p.E150D|TNNT2_ENST00000458432.2_Missense_Mutation_p.E167D|TNNT2_ENST00000367318.5_Missense_Mutation_p.E155D|TNNT2_ENST00000367322.1_Missense_Mutation_p.E155D|TNNT2_ENST00000421663.2_Missense_Mutation_p.E157D	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	165					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GTCGAGCCCTCTCTTCCTGAT	0.507000													61	50					0	0	1	0	0
GPR148	344561	broad.mit.edu	37	2	131486960	131486960	+	Missense_Mutation	SNP	G	G	A	rs74772195		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:131486960G>A	ENST00000309926.4	+	1	318	c.236G>A	c.(235-237)cGg>cAg	p.R79Q		NM_207364.2	NP_997247.2	Q8TDV2	GP148_HUMAN	G protein-coupled receptor 148	79						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					CGGAACCAACGGCTGCGACAG	0.612000													26	39					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87051465	87051465	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:87051465A>T	ENST00000265723.4	-	18	2399	c.2288T>A	c.(2287-2289)aTt>aAt	p.I763N	ABCB4_ENST00000545634.1_Missense_Mutation_p.I763N|ABCB4_ENST00000453593.1_Missense_Mutation_p.I763N|ABCB4_ENST00000359206.3_Missense_Mutation_p.I763N|ABCB4_ENST00000358400.3_Missense_Mutation_p.I763N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	763	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAAAGAAATAATTCCCAGAAA	0.318000													4	11					0	0	1	0	0
NEU2	4759	broad.mit.edu	37	2	233898955	233898955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:233898955G>T	ENST00000233840.3	+	2	331	c.331G>T	c.(331-333)Gag>Tag	p.E111*		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	111							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCAAGTCACGGAGCAACAGCA	0.627000													77	65					5.61366e-43	9.35075e-43	1	1	0
TNK2	10188	broad.mit.edu	37	3	195594534	195594534	+	Nonsense_Mutation	SNP	C	C	A	rs143850445		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:195594534C>A	ENST00000333602.6	-	12	3207	c.2590G>T	c.(2590-2592)Gag>Tag	p.E864*	TNK2_ENST00000428187.1_Nonsense_Mutation_p.E896*|TNK2_ENST00000392400.1_Nonsense_Mutation_p.E864*|TNK2_ENST00000381916.2_Nonsense_Mutation_p.E942*	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	864	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	GATGGTCGCTCGGGCAGCAAG	0.682000													20	28					2.70639e-06	3.09378e-06	1	1	0
PACRG	135138	broad.mit.edu	37	6	163735955	163735955	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:163735955G>T	ENST00000337019.3	+	7	1051	c.827G>T	c.(826-828)gGa>gTa	p.G276V	PACRG_ENST00000366889.2_Missense_Mutation_p.G237V|PACRG_ENST00000366888.2_Missense_Mutation_p.G237V	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	276										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CGCTACGGAGGAGAAAATGCC	0.527000													22	4					1.96292e-10	2.51237e-10	1	1	0
SALL3	27164	broad.mit.edu	37	18	76753602	76753602	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:76753602G>T	ENST00000536229.3	+	1	1921	c.1212G>T	c.(1210-1212)gcG>gcT	p.A404A	SALL3_ENST00000537592.2_Silent_p.A537A|SALL3_ENST00000575389.2_Silent_p.A537A			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	537					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCCCTGGCGCGCACGGCTACG	0.741000													15	2					2.32078e-09	2.90347e-09	1	1	0
NFASC	23114	broad.mit.edu	37	1	204943867	204943867	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:204943867C>A	ENST00000367172.4	+	14	1802	c.1474C>A	c.(1474-1476)Cgc>Agc	p.R492S	NFASC_ENST00000404907.1_Missense_Mutation_p.R503S|NFASC_ENST00000338586.6_Missense_Mutation_p.R492S|NFASC_ENST00000339876.6_Missense_Mutation_p.R492S|NFASC_ENST00000404076.1_Missense_Mutation_p.R486S|NFASC_ENST00000360049.4_Missense_Mutation_p.R503S|NFASC_ENST00000513543.1_Missense_Mutation_p.R503S|NFASC_ENST00000367170.4_Missense_Mutation_p.R492S|NFASC_ENST00000338515.6_Missense_Mutation_p.R492S|NFASC_ENST00000367169.4_Missense_Mutation_p.R492S|NFASC_ENST00000401399.1_Missense_Mutation_p.R492S|NFASC_ENST00000403080.1_Missense_Mutation_p.R492S|NFASC_ENST00000367171.4_Missense_Mutation_p.R492S|NFASC_ENST00000539706.1_Missense_Mutation_p.R503S			O94856	NFASC_HUMAN	neurofascin	492	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.R492S(2)|p.R503C(1)|p.R503S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TAAGATGATCCGCAAAGAGGA	0.507000													36	67					6.90743e-12	9.09036e-12	1	1	0
SPEG	10290	broad.mit.edu	37	2	220349275	220349275	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:220349275C>G	ENST00000312358.7	+	30	7222	c.7090C>G	c.(7090-7092)Cgt>Ggt	p.R2364G	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2364	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGGCCCCTTCCGTGGGGCCGA	0.731000													23	12					0	0	1	0	0
PRKAG2	51422	broad.mit.edu	37	7	151573652	151573652	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:151573652G>T	ENST00000287878.4	-	1	558	c.54C>A	c.(52-54)ggC>ggA	p.G18G		NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	18					ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		CGCCGCTCCCGCCGGGGCTGG	0.587000													54	9					5.57489e-27	8.89237e-27	1	1	0
KCNA4	3739	broad.mit.edu	37	11	30033836	30033836	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:30033836C>T	ENST00000328224.6	-	2	1623	c.390G>A	c.(388-390)gaG>gaA	p.E130E		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	130	Poly-Glu.					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						cctcttcctcctcctcctcat	0.552000													12	21					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38273860	38273860	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:38273860G>T	ENST00000412331.2	+	11	1839	c.1257G>T	c.(1255-1257)aaG>aaT	p.K419N	EIF3L_ENST00000406934.1_Missense_Mutation_p.K321N|EIF3L_ENST00000381683.6_Missense_Mutation_p.K371N	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	419						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCTGCCCCAAGTTCCTGTCGC	0.498000													23	36					6.44725e-10	8.18008e-10	1	1	0
OR13A1	79290	broad.mit.edu	37	10	45799502	45799502	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:45799502C>A	ENST00000553795.1	-	4	677	c.369G>T	c.(367-369)acG>acT	p.T123T	OR13A1_ENST00000374401.2_Silent_p.T123T|OR13A1_ENST00000536058.1_Silent_p.T123T	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						ATGCAGCCCACGTGAGGAAAT	0.602000													5	23					3.59834e-05	3.9807e-05	1	1	0
ZNF451	26036	broad.mit.edu	37	6	57012484	57012484	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:57012484G>A	ENST00000370706.4	+	10	1845	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q	RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.R534Q|RP11-203B9.4_ENST00000592038.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.R534Q|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTGGTGTCGGACATGCAAA	0.403000													19	92					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207790119	207790119	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:207790119C>A	ENST00000367049.4	+	41	6861	c.6861C>A	c.(6859-6861)gcC>gcA	p.A2287A	CR1_ENST00000367052.1_Silent_p.A1837A|CR1_ENST00000367051.1_Silent_p.A1837A|CR1_ENST00000400960.2_Silent_p.A1837A|CR1_ENST00000367053.1_Silent_p.A1837A	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1837					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCAGCCCTGCCCCTCGCTGTG	0.507000													51	73					1.51926e-22	2.34629e-22	1	1	0
SLC35G1	159371	broad.mit.edu	37	10	95660568	95660568	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:95660568G>A	ENST00000371408.3	+	3	477	c.416G>A	c.(415-417)gGt>gAt	p.G139D	SLC35G1_ENST00000427197.1_Missense_Mutation_p.G140D			Q2M3R5	TMM20_HUMAN	solute carrier family 35, member G1	140	DUF6 1.					integral to membrane											GGAGTCCTTGGTTCTACCGCC	0.388000													18	4					0	0	1	0	0
SEC16A	9919	broad.mit.edu	37	9	139361417	139361417	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:139361417G>T	ENST00000313050.7	-	4	3994	c.3921C>A	c.(3919-3921)ttC>ttA	p.F1307L	SEC16A_ENST00000371706.3_Missense_Mutation_p.F1129L|SEC16A_ENST00000290037.6_Missense_Mutation_p.F1129L|SEC16A_ENST00000431893.2_Missense_Mutation_p.F1129L	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1129					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		ACCTGTCCCCGAAGGCAGAGT	0.592000													9	4					2.17888e-05	2.41729e-05	1	1	0
RRP8	23378	broad.mit.edu	37	11	6623082	6623082	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:6623082C>A	ENST00000254605.6	-	2	580	c.463_splice	c.e2+1	p.G155_splice	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	155					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						CCAATGGTACCTGTTTGGTCA	0.463000													6	9					0.00116845	0.00122299	1	1	0
GPR155	151556	broad.mit.edu	37	2	175346303	175346303	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:175346303C>G	ENST00000392552.2	-	2	620	c.382G>C	c.(382-384)Gat>Cat	p.D128H	GPR155_ENST00000392551.2_Missense_Mutation_p.D128H|GPR155_ENST00000295500.4_Missense_Mutation_p.D128H	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	128					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						AATCGACTATCAGGACTGGCA	0.338000													26	62					0	0	1	0	0
CCDC92	80212	broad.mit.edu	37	12	124421890	124421890	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:124421890C>A	ENST00000545135.1	-	3	3956	c.660G>T	c.(658-660)gtG>gtT	p.V220V	CCDC92_ENST00000238156.3_Silent_p.V237V|CCDC92_ENST00000545891.1_Silent_p.V220V|CCDC92_ENST00000544798.1_Intron			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	237										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GCATAGCATCCACTGGTTCCC	0.602000													35	43					1.22384e-17	1.80176e-17	1	1	0
PANX3	116337	broad.mit.edu	37	11	124487245	124487245	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:124487245C>G	ENST00000284288.2	+	3	467	c.400C>G	c.(400-402)Cca>Gca	p.P134A		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	134					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCAGCTGTGCCAGCCCTCAG	0.597000													12	24					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17522656	17522656	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:17522656G>T	ENST00000005226.7	-	23	2321	c.2322C>A	c.(2320-2322)tcC>tcA	p.S774S	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Silent_p.S443S|USH1C_ENST00000527020.1_Silent_p.S455S|USH1C_ENST00000318024.4_Silent_p.S474S	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	474					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TCCCAATGGGGGAGTCCACAC	0.592000													8	19					1.06961e-07	1.27262e-07	1	1	0
FAM92A1P2	403315	broad.mit.edu	37	4	183959023	183959023	+	RNA	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:183959023C>T	ENST00000502308.1	+	0	206					NR_003612.1																						CAAGTCTTTGCTGCCTATGTG	0.498000													3	2					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46357678	46357678	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:46357678C>A	ENST00000245934.7	-	2	320	c.76G>T	c.(76-78)Ggc>Tgc	p.G26C		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	26	Interaction with HSF1.				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CCATCGATGCCCGGCCCCTCC	0.617000													31	155					5.60225e-13	7.5256e-13	1	1	0
PCDHB14	56122	broad.mit.edu	37	5	140605134	140605134	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140605134T>A	ENST00000239449.4	+	1	2057	c.2057T>A	c.(2056-2058)cTc>cAc	p.L686H	PCDHB14_ENST00000515856.2_Missense_Mutation_p.L533H	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		686					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCGACTCCCTCACCGTCTAC	0.706000													96	209					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177070978	177070978	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:177070978C>A	ENST00000393643.2	+	14	2170	c.1918C>A	c.(1918-1920)Cgc>Agc	p.R640S	WDR17_ENST00000507824.2_Missense_Mutation_p.R647S|WDR17_ENST00000508596.1_Missense_Mutation_p.R640S|WDR17_ENST00000280190.4_Missense_Mutation_p.R664S	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	664										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CCATCCCAGTCGCCCCTTCAC	0.373000													23	21					3.85864e-22	5.95129e-22	1	1	0
ZBTB16	7704	broad.mit.edu	37	11	113934754	113934754	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:113934754G>C	ENST00000335953.4	+	2	1112	c.732G>C	c.(730-732)gaG>gaC	p.E244D	ZBTB16_ENST00000392996.2_Missense_Mutation_p.E244D	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	244					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		TGAAGACGGAGATGATGCAGG	0.642000													20	15					0	0	1	0	0
ALPL	249	broad.mit.edu	37	1	21889729	21889729	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:21889729A>T	ENST00000374840.3	+	5	674	c.424A>T	c.(424-426)Acc>Tcc	p.T142S	ALPL_ENST00000468526.1_3'UTR|ALPL_ENST00000425315.2_Missense_Mutation_p.T142S|ALPL_ENST00000539907.1_Missense_Mutation_p.T65S|ALPL_ENST00000540617.1_Missense_Mutation_p.T87S|ALPL_ENST00000374832.1_Missense_Mutation_p.T142S	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	142					response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)	GTGCAACACCACCCAGGGGAA	0.682000													21	56					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100239261	100239261	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:100239261G>T	ENST00000305046.8	-	3	268	c.201C>A	c.(199-201)ggC>ggA	p.G67G	ADH1B_ENST00000394887.3_Silent_p.G27G|ADH1B_ENST00000504498.1_5'UTR			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	67					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTGCCTCATGGCCTAAAATCA	0.522000													32	71					5.91797e-21	9.00829e-21	1	1	0
ST14	6768	broad.mit.edu	37	11	130069858	130069858	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:130069858G>A	ENST00000278742.5	+	16	2238	c.1820G>A	c.(1819-1821)cGg>cAg	p.R607Q		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	607					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TGTGGGCTGCGGTCATTCACG	0.617000													17	66					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103290798	103290798	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:103290798G>T	ENST00000424685.2	-	16	2084	c.1925C>A	c.(1924-1926)gCa>gAa	p.A642E	RELN_ENST00000343529.5_Missense_Mutation_p.A642E|RELN_ENST00000428762.1_Missense_Mutation_p.A642E			P78509	RELN_HUMAN	reelin	642					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTTAGTGCTGCGTTAGGAAG	0.408000													26	31					1.17739e-12	1.57256e-12	1	1	0
WDR45	11152	broad.mit.edu	37	X	48933083	48933083	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:48933083C>A	ENST00000356463.3	-	10	1208	c.770G>T	c.(769-771)aGt>aTt	p.S257I	WDR45_ENST00000376368.2_Missense_Mutation_p.S257I|WDR45_ENST00000376372.3_Missense_Mutation_p.S256I|WDR45_ENST00000473974.1_Intron|WDR45_ENST00000376358.3_Missense_Mutation_p.S154I|WDR45_ENST00000470270.1_5'UTR|WDR45_ENST00000553851.1_Missense_Mutation_p.S154I|WDR45_ENST00000322995.8_Missense_Mutation_p.S267I|WDR45_ENST00000485908.1_Missense_Mutation_p.S221I|WDR45_ENST00000396681.4_Splice_Site	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	256					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						ACCCTTATCACTGGAAGCGCA	0.577000													18	21					5.35267e-07	6.22875e-07	1	1	0
WASF3	10810	broad.mit.edu	37	13	27241707	27241707	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:27241707G>T	ENST00000361042.4	+	5	547	c.322G>T	c.(322-324)Gac>Tac	p.D108Y	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000335327.5_Missense_Mutation_p.D108Y			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	108					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CACAGTCCAAGACCAGCAAGT	0.383000													12	21					3.41278e-10	4.35372e-10	1	1	0
DRD5	1816	broad.mit.edu	37	4	9784742	9784742	+	Silent	SNP	C	C	T	rs143226097		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:9784742C>T	ENST00000304374.2	+	1	1485	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	363					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.A363A(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTTCAACGCCGACTTTCAGA	0.597000													9	107					0	0	1	0	0
SMOC1	64093	broad.mit.edu	37	14	70490164	70490164	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:70490164G>T	ENST00000381280.4	+	11	1544	c.1291_splice	c.e11+1	p.G431_splice	SMOC1_ENST00000361956.3_Splice_Site_p.V431_splice	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	431	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		TAGCAAAGAAGGTGAGTGCTC	0.522000													53	19					6.30371e-39	1.04109e-38	1	1	0
KIAA0513	9764	broad.mit.edu	37	16	85106571	85106571	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:85106571G>T	ENST00000566428.1	+	4	1101	c.470G>T	c.(469-471)cGc>cTc	p.R157L	KIAA0513_ENST00000538274.1_Missense_Mutation_p.R157L|KIAA0513_ENST00000567328.1_Missense_Mutation_p.R157L|KIAA0513_ENST00000258180.3_Missense_Mutation_p.R157L			O60268	K0513_HUMAN	KIAA0513	157						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCTTCTACCGCCTGGTGCAG	0.567000													46	15					1.61863e-15	2.32143e-15	1	1	0
FBXO24	26261	broad.mit.edu	37	7	100198377	100198377	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:100198377A>T	ENST00000241071.6	+	10	1920	c.1598A>T	c.(1597-1599)cAg>cTg	p.Q533L	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000427939.2_Missense_Mutation_p.Q571L|FBXO24_ENST00000468962.1_Missense_Mutation_p.Q521L|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	533						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAAACGTTGCAGGACCGCACG	0.647000													69	72					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67081770	67081770	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:67081770C>A	ENST00000284425.2	-	31	4199	c.4025G>T	c.(4024-4026)gGa>gTa	p.G1342V	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1342	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CACTACCTCTCCAGCAGTTGG	0.343000													10	14					0.000673444	0.000709978	1	1	0
GDF5	8200	broad.mit.edu	37	20	34025155	34025155	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:34025155C>G	ENST00000374372.1	-	3	1057	c.554G>C	c.(553-555)aGa>aCa	p.R185T	GDF5_ENST00000374369.3_Missense_Mutation_p.R185T			P43026	GDF5_HUMAN	growth differentiation factor 5	185					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			GCCTCCCTTTCTGTCAGCATC	0.637000													38	33					0	0	1	0	0
NXPE4	54827	broad.mit.edu	37	11	114442056	114442056	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:114442056C>A	ENST00000375478.3	-	6	1419	c.1239G>T	c.(1237-1239)atG>atT	p.M413I	NXPE4_ENST00000424261.2_Missense_Mutation_p.M129I	NM_001077639.1	NP_001071107.1			neurexophilin and PC-esterase domain family, member 4																		TGAGGTACTCCATCTCTTTGA	0.428000													56	56					5.2118e-15	7.37495e-15	1	1	0
FAM47C	442444	broad.mit.edu	37	X	37028630	37028630	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:37028630C>A	ENST00000358047.3	+	1	2199	c.2147C>A	c.(2146-2148)gCg>gAg	p.A716E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	716										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTCTCCACGCGGAGCCTCCT	0.632000													52	15					2.0833e-19	3.12629e-19	1	1	0
URB2	9816	broad.mit.edu	37	1	229794938	229794938	+	Missense_Mutation	SNP	G	G	T	rs138399002		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:229794938G>T	ENST00000258243.2	+	10	4605	c.4469G>T	c.(4468-4470)cGg>cTg	p.R1490L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1490						nucleolus		p.R1490L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CAGTTCCTGCGGGCCTCGCTG	0.498000													68	107					2.19297e-23	3.41388e-23	1	1	0
ADNP2	22850	broad.mit.edu	37	18	77894149	77894149	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:77894149G>T	ENST00000262198.4	+	4	1308	c.853G>T	c.(853-855)Gct>Tct	p.A285S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	285	Pro-rich.				cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGCTCCAAGCGCTCCAGCGCA	0.557000													38	16					4.32679e-17	6.33799e-17	1	1	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678586	37678586	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:37678586C>G	ENST00000379800.3	-	1	1217	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	270	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TCTGGGACTTCCTCAAAGCGC	0.448000													22	35					0	0	1	0	0
GEMIN5	25929	broad.mit.edu	37	5	154278851	154278851	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:154278851T>A	ENST00000285873.7	-	22	3109	c.3034A>T	c.(3034-3036)Aag>Tag	p.K1012*		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1012					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCCGGGCCTTGGCAATCGCA	0.547000													35	67					0	0	1	0	0
CBWD2	150472	broad.mit.edu	37	2	114202629	114202629	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:114202629C>T	ENST00000433343.2	+	5	631	c.319C>T	c.(319-321)Cca>Tca	p.P107S	CBWD2_ENST00000416503.2_Missense_Mutation_p.P143S|CBWD2_ENST00000259199.4_Missense_Mutation_p.P143S			Q8IUF1	CBWD2_HUMAN	COBW domain containing 2	143							ATP binding|protein binding			endometrium(1)|lung(1)	2						ATTGGCAGACCCAGGTAAGAA	0.368000													6	95					0	0	1	0	0
INPP1	3628	broad.mit.edu	37	2	191231510	191231510	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:191231510G>A	ENST00000392329.2	+	5	1055	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	INPP1_ENST00000322522.4_Missense_Mutation_p.E119K|INPP1_ENST00000541441.1_Missense_Mutation_p.E119K	NM_001128928.1	NP_001122400.1	P49441	INPP_HUMAN	inositol polyphosphate-1-phosphatase	119					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	GGTGGCATCTGAAGCATTAGC	0.453000													23	46					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181725098	181725098	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:181725098C>A	ENST00000526775.1	+	28	4104	c.3939C>A	c.(3937-3939)aaC>aaA	p.N1313K	CACNA1E_ENST00000367570.1_Missense_Mutation_p.N1332K|CACNA1E_ENST00000367573.2_Missense_Mutation_p.N1332K|CACNA1E_ENST00000358338.5_Missense_Mutation_p.N1264K|CACNA1E_ENST00000360108.3_Missense_Mutation_p.N1313K|CACNA1E_ENST00000357570.5_Missense_Mutation_p.N1283K|CACNA1E_ENST00000367567.4_Missense_Mutation_p.N939K	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1332					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TTAGAGGCAACTATGTAGATC	0.478000													10	11					6.40141e-05	6.97574e-05	1	1	0
FANCM	57697	broad.mit.edu	37	14	45642257	45642257	+	Splice_Site	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:45642257G>C	ENST00000267430.5	+	13	2245		c.e13-1		FANCM_ENST00000542564.2_Splice_Site	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M						DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	p.?(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAATAATTAAGGCTCAAGAAT	0.313000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				23	4					0	0	1	0	0
IQCF3	401067	broad.mit.edu	37	3	51864790	51864790	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:51864790G>A	ENST00000456080.1	+	8	1603	c.438G>A	c.(436-438)gaG>gaA	p.E146E	IQCF3_ENST00000444293.1_3'UTR|IQCF3_ENST00000462079.1_3'UTR|IQCF3_ENST00000437810.2_Silent_p.E146E|IQCF3_ENST00000446775.1_Silent_p.E146E|IQCF3_ENST00000440739.2_Silent_p.E146E			P0C7M6	IQCF3_HUMAN	IQ motif containing F3	146										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCAGCCAGAGTTCCACATTG	0.488000													37	5					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78419417	78419417	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:78419417C>G	ENST00000278550.7	-	27	4660	c.4198G>C	c.(4198-4200)Gat>Cat	p.D1400H		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		TGGGAAATATCCATGACAGAA	0.537000													18	24					0	0	1	0	0
STARD5	80765	broad.mit.edu	37	15	81615291	81615291	+	Splice_Site	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:81615291T>C	ENST00000302824.6	-	2	125		c.e2-2		STARD5_ENST00000559913.1_Splice_Site	NM_181900.2	NP_871629.1	Q9NSY2	STAR5_HUMAN	StAR-related lipid transfer (START) domain containing 5						C21-steroid hormone biosynthetic process|lipid transport	cytosol	lipid binding			large_intestine(3)|ovary(1)|skin(1)|stomach(1)	6						AACTCCATTCTGTCAAAAGGC	0.502000													3	17					0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	58147019	58147019	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:58147019G>A	ENST00000282878.4	+	5	694	c.525G>A	c.(523-525)aaG>aaA	p.K175K	CTD-2176I21.2_ENST00000510198.1_RNA	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	175					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CAAGTGCCAAGGACAACATTA	0.403000													13	62					0	0	1	0	0
IGF2BP3	10643	broad.mit.edu	37	7	23358804	23358804	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:23358804C>A	ENST00000258729.3	-	11	1629	c.1273G>T	c.(1273-1275)Ggc>Tgc	p.G425C		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	425	KH 3.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						ATGTGCTGGCCCTGCTTGCCG	0.458000													30	62					1.75199e-13	2.38926e-13	1	1	0
SV2B	9899	broad.mit.edu	37	15	91811691	91811691	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:91811691G>T	ENST00000394232.1	+	9	1699	c.1229G>T	c.(1228-1230)tGg>tTg	p.W410L	SV2B_ENST00000545111.2_Missense_Mutation_p.W259L|SV2B_ENST00000330276.4_Missense_Mutation_p.W410L	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	410					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CTGACAGTTTGGTTTCCTGAT	0.418000													18	62					1.33834e-09	1.67796e-09	1	1	0
WNK4	65266	broad.mit.edu	37	17	40940344	40940344	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:40940344G>T	ENST00000246914.5	+	10	1980	c.1959G>T	c.(1957-1959)gtG>gtT	p.V653V	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	653					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTAGCGATGTGGGAGAAGGGA	0.572000													18	38					3.52763e-06	3.99342e-06	1	1	0
POP1	10940	broad.mit.edu	37	8	99168328	99168328	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:99168328C>T	ENST00000401707.2	+	15	2189	c.2108C>T	c.(2107-2109)cCt>cTt	p.P703L	POP1_ENST00000349693.3_Missense_Mutation_p.P703L	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	703					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			ACTCTGGCACCTTTCTGCTGT	0.468000													45	79					0	0	1	0	0
SKAP1	8631	broad.mit.edu	37	17	46257476	46257476	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:46257476C>A	ENST00000336915.6	-	9	835	c.766G>T	c.(766-768)Gtg>Ttg	p.V256L	SKAP1_ENST00000584924.1_Missense_Mutation_p.V256L	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	256					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						TTTATCCCCACACTCCCAGGC	0.413000													18	27					0.00074312	0.000782726	1	1	0
EXOC3L2	90332	broad.mit.edu	37	19	45716518	45716518	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:45716518C>T	ENST00000413988.1	-	10	1079	c.1039G>A	c.(1039-1041)Gag>Aag	p.E347K	AC006126.3_ENST00000591569.1_Intron|EXOC3L2_ENST00000252482.3_Missense_Mutation_p.E347K	NM_138568.3	NP_612635.3	Q2M3D2	EX3L2_HUMAN	exocyst complex component 3-like 2	347										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GCTCCCTCCTCAGAGAGTTCC	0.672000													28	137					0	0	1	0	0
SPIRE1	56907	broad.mit.edu	37	18	12479841	12479841	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:12479841G>A	ENST00000409402.4	-	10	1528	c.1261C>T	c.(1261-1263)Ctt>Ttt	p.L421F	SPIRE1_ENST00000453447.2_Missense_Mutation_p.L287F|SPIRE1_ENST00000410092.3_Missense_Mutation_p.L407F|SPIRE1_ENST00000383356.2_Missense_Mutation_p.L248F|SPIRE1_ENST00000309836.5_Missense_Mutation_p.L210F|SPIRE1_ENST00000464481.1_5'UTR	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	421						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GACTCCACAAGATTCTTTGTA	0.433000													30	7					0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20964402	20964402	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:20964402G>A	ENST00000321556.4	+	2	549	c.455G>A	c.(454-456)cGg>cAg	p.R152Q		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	152					cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGGGCTTTCGGCTGGAGGAG	0.552000													39	45					0	0	1	0	0
SLFN11	91607	broad.mit.edu	37	17	33680924	33680924	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:33680924C>T	ENST00000394566.1	-	6	1625	c.1353G>A	c.(1351-1353)ttG>ttA	p.L451L	SLFN11_ENST00000308377.4_Silent_p.L451L	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	451						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCTTCTCCTGCAAGTTCAGGT	0.488000													21	38					0	0	1	0	0
SPG11	80208	broad.mit.edu	37	15	44890971	44890971	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:44890971T>A	ENST00000261866.7	-	22	3766	c.3750A>T	c.(3748-3750)atA>atT	p.I1250I	SPG11_ENST00000427534.2_Silent_p.I1250I|SPG11_ENST00000558319.1_Silent_p.I1250I|SPG11_ENST00000535302.2_Silent_p.I1250I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1250					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATGCAGCTCCTATTGAAGGTA	0.418000													25	28					0	0	1	0	0
HEATR5B	54497	broad.mit.edu	37	2	37255973	37255973	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:37255973C>A	ENST00000233099.5	-	23	3547	c.3452G>T	c.(3451-3453)gGa>gTa	p.G1151V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G1151V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1151							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAAAAGAAGTCCCTCAAGACC	0.428000													26	54					7.07758e-08	8.47275e-08	1	1	0
TRIM6	117854	broad.mit.edu	37	11	5624725	5624725	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:5624725C>T	ENST00000380097.3	+	2	509	c.267C>T	c.(265-267)acC>acT	p.T89T	TRIM6_ENST00000380107.1_Silent_p.T61T|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000506134.1_Intron|HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000278302.5_Silent_p.T61T|TRIM6_ENST00000507320.1_Intron|TRIM6_ENST00000515022.1_Intron|TRIM6-TRIM34_ENST00000354852.5_Silent_p.T89T	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTGCCAGACCAGCTACCAGC	0.572000													9	37					0	0	1	0	0
ZZZ3	26009	broad.mit.edu	37	1	78047685	78047685	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:78047685C>T	ENST00000370801.3	-	7	2246	c.1771G>A	c.(1771-1773)Gtt>Att	p.V591I	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.V97I	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACTAGCTTAACTCTTCTAGTA	0.318000													11	31					0	0	1	0	0
PTCD3	55037	broad.mit.edu	37	2	86350836	86350836	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:86350836G>A	ENST00000254630.7	+	9	733	c.667G>A	c.(667-669)Gat>Aat	p.D223N	PTCD3_ENST00000409277.3_Missense_Mutation_p.M181I	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	223						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						AGAGGAAAATGATGAGACATC	0.388000													23	38					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31852761	31852761	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:31852761T>C	ENST00000543095.2	-	10	1746	c.1562A>G	c.(1561-1563)cAt>cGt	p.H521R	HEATR5A_ENST00000389961.3_Missense_Mutation_p.H515R|HEATR5A_ENST00000404677.3_Missense_Mutation_p.H521R|HEATR5A_ENST00000439727.1_Missense_Mutation_p.H228R|HEATR5A_ENST00000439348.1_Missense_Mutation_p.H515R	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	515							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TAAAGGACAATGTTTTACTGC	0.398000													5	53					0	0	1	0	0
IDO2	169355	broad.mit.edu	37	8	39872952	39872952	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:39872952C>A	ENST00000502986.2	+	11	1336	c.1094C>A	c.(1093-1095)aCc>aAc	p.T365N	IDO2_ENST00000343295.4_3'UTR|IDO2_ENST00000389060.4_Missense_Mutation_p.T352N	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	352					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						ACCATGGTCACCAAATACCTC	0.547000													19	22					2.35188e-11	3.07432e-11	1	1	0
FAM155A	728215	broad.mit.edu	37	13	108518883	108518883	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:108518883G>C	ENST00000375915.2	-	1	200	c.62C>G	c.(61-63)gCa>gGa	p.A21G		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	21						integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCTCGGGGTGCTGCCAACCA	0.537000													127	88					0	0	1	0	0
PDPN	10630	broad.mit.edu	37	1	13936943	13936943	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:13936943G>C	ENST00000294489.6	+	3	832	c.491G>C	c.(490-492)aGc>aCc	p.S164T	PDPN_ENST00000513143.1_Missense_Mutation_p.S46T|PDPN_ENST00000509009.1_Missense_Mutation_p.S83T|PDPN_ENST00000376057.4_Missense_Mutation_p.S164T|PDPN_ENST00000487038.1_Missense_Mutation_p.S46T|PDPN_ENST00000475043.1_Missense_Mutation_p.S46T|PDPN_ENST00000376061.4_Missense_Mutation_p.S46T			Q86YL7	PDPN_HUMAN	podoplanin	88					cell morphogenesis|lymphangiogenesis|regulation of cell shape	filopodium membrane|integral to plasma membrane|lamellipodium membrane|microvillus membrane|ruffle membrane				endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(185;0.249)	all_lung(284;2.29e-05)|Lung NSC(185;4.37e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00969)|Colorectal(212;4.48e-06)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000347)|Kidney(185;0.00087)|KIRC - Kidney renal clear cell carcinoma(229;0.0027)|STAD - Stomach adenocarcinoma(313;0.00802)|READ - Rectum adenocarcinoma(331;0.0678)		ACTTCAGAAAGCACAGTCCAC	0.507000													44	56					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73296463	73296463	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:73296463T>G	ENST00000377110.2	-	9	1547	c.1304A>C	c.(1303-1305)cAc>cCc	p.H435P	TRPM3_ENST00000408909.2_Missense_Mutation_p.H282P|TRPM3_ENST00000396280.5_Missense_Mutation_p.H282P|TRPM3_ENST00000377111.2_Missense_Mutation_p.H435P|TRPM3_ENST00000396285.1_Missense_Mutation_p.H282P|TRPM3_ENST00000360823.2_Missense_Mutation_p.H307P|TRPM3_ENST00000377106.1_Missense_Mutation_p.H307P|TRPM3_ENST00000396292.4_Missense_Mutation_p.H307P|TRPM3_ENST00000357533.2_Missense_Mutation_p.H437P|TRPM3_ENST00000358082.3_Missense_Mutation_p.H307P|TRPM3_ENST00000423814.3_Missense_Mutation_p.H462P|TRPM3_ENST00000377105.1_Missense_Mutation_p.H282P	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	460						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AATGTCCTGGTGTCCTTCTGA	0.388000													24	6					0	0	1	0	0
UBIAD1	29914	broad.mit.edu	37	1	11345711	11345711	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:11345711C>T	ENST00000376810.5	+	2	866	c.540C>T	c.(538-540)ttC>ttT	p.F180F	UBIAD1_ENST00000376804.2_Intron	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	180					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAATTGGATTCAAGTACGTGG	0.557000													26	19					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237819155	237819155	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:237819155C>A	ENST00000366574.2	+	53	8317	c.8000C>A	c.(7999-8001)cCt>cAt	p.P2667H	RYR2_ENST00000360064.6_Missense_Mutation_p.P2665H|RYR2_ENST00000542537.1_Missense_Mutation_p.P2651H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2667	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGGCACTGCCTTGCCTGAGT	0.403000													6	5					0.00116845	0.00122299	1	1	0
ZNF527	84503	broad.mit.edu	37	19	37870072	37870072	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:37870072G>T	ENST00000436120.2	+	3	191	c.84G>T	c.(82-84)tgG>tgT	p.W28C	ZNF527_ENST00000587349.1_Missense_Mutation_p.W28C|ZNF527_ENST00000483919.1_Missense_Mutation_p.W28C|ZNF527_ENST00000589615.1_3'UTR	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGAAGAGTGGGAATGGCTGA	0.448000													8	127					0.0381472	0.0386108	1	1	0
SLC25A3	5250	broad.mit.edu	37	12	98987860	98987860	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:98987860G>T	ENST00000188376.5	+	1	458	c.104G>T	c.(103-105)gGg>gTg	p.G35V	SLC25A3_ENST00000401722.3_Missense_Mutation_p.G35V|SLC25A3_ENST00000547534.1_Missense_Mutation_p.G35V|SLC25A3_ENST00000548847.1_Missense_Mutation_p.G35V|SLC25A3_ENST00000551265.1_Missense_Mutation_p.G35V|SLC25A3_ENST00000228318.3_Missense_Mutation_p.G35V|SLC25A3_ENST00000552981.1_Missense_Mutation_p.G35V|SLC25A3_ENST00000551917.1_Missense_Mutation_p.G35V|SLC25A3_ENST00000549338.1_Missense_Mutation_p.G35V	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	35					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		AGCTCCCCAGGGCCCACGGGC	0.687000													13	23					5.50884e-06	6.17032e-06	1	1	0
SAMSN1	64092	broad.mit.edu	37	21	15858433	15858433	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:15858433T>A	ENST00000285670.2	-	9	1300	c.1126A>T	c.(1126-1128)Att>Ttt	p.I376F	SAMSN1_ENST00000400564.1_Missense_Mutation_p.I140F|SAMSN1_ENST00000400566.1_Missense_Mutation_p.I308F	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	308					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TGCTCTTGAATAACTGTAAAT	0.378000													3	10					0	0	1	0	0
GAGE10	643832	broad.mit.edu	37	X	49173666	49173666	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:49173666A>T	ENST00000407599.3	+	4	320	c.227A>T	c.(226-228)cAg>cTg	p.Q76L		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	76										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					GCTGATAGCCAGGAACAGGTT	0.418000													112	130					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980794	121980794	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:121980794G>C	ENST00000498619.1	+	4	1350	c.912G>C	c.(910-912)ctG>ctC	p.L304L	CASR_ENST00000296154.5_Silent_p.L304L|CASR_ENST00000490131.1_Silent_p.L304L	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	304					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTCCTCCCTGATCGCCATGC	0.607000													51	46					0	0	1	0	0
OR6C2	341416	broad.mit.edu	37	12	55846486	55846486	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:55846486G>T	ENST00000322678.1	+	1	489	c.489G>T	c.(487-489)caG>caT	p.Q163H	RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TAGGCCTCCAGCTCGAATTCT	0.453000													43	65					2.95478e-19	4.41701e-19	1	1	0
KRT10	3858	broad.mit.edu	37	17	38978439	38978439	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:38978439A>G	ENST00000269576.5	-	1	408	c.399T>C	c.(397-399)ggT>ggC	p.G133G	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	133	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctccaaatccaccaccaaagc	0.557000													7	51					0	0	1	0	0
SMARCA1	6594	broad.mit.edu	37	X	128599691	128599691	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:128599691G>A	ENST00000371122.4	-	23	2965	c.2836C>T	c.(2836-2838)Cca>Tca	p.P946S	SMARCA1_ENST00000371123.1_Missense_Mutation_p.P934S|SMARCA1_ENST00000371121.3_Missense_Mutation_p.P934S	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	946					ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex	ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						TGATGAAATGGAGCCTTGTAT	0.348000													14	3					0	0	1	0	0
KANSL1	284058	broad.mit.edu	37	17	44249276	44249276	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:44249276C>A	ENST00000262419.6	-	2	704	c.234G>T	c.(232-234)ctG>ctT	p.L78L	KANSL1_ENST00000432791.1_Silent_p.L78L|KANSL1_ENST00000393476.3_5'UTR|KANSL1_ENST00000575318.1_Silent_p.L78L|KANSL1_ENST00000574590.1_Silent_p.L78L|KANSL1_ENST00000572904.1_Silent_p.L78L	NM_001193466.1	NP_001180395.1	Q7Z3B3	K1267_HUMAN	KAT8 regulatory NSL complex subunit 1	78						MLL1 complex	protein binding										AAGATGCCACCAGTGGTTGCA	0.468000													44	94					1.62957e-23	2.54021e-23	1	1	0
WDR6	11180	broad.mit.edu	37	3	49049964	49049964	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:49049964C>T	ENST00000395474.3	+	2	1367	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.R282W	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	333					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCGTGGGTACCGGGGATTGGG	0.622000													31	11					0	0	1	0	0
OR4D5	219875	broad.mit.edu	37	11	123810326	123810326	+	Translation_Start_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:123810326G>T	ENST00000307033.2	+	1	77	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCAACCAGATGAATCCAGCAA	0.433000													17	34					2.35188e-11	3.07432e-11	1	1	0
AMER1	139285	broad.mit.edu	37	X	63412080	63412080	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:63412080C>A	ENST00000330258.3	-	2	1359	c.1087G>T	c.(1087-1089)Gtg>Ttg	p.V363L	AMER1_ENST00000403336.1_Missense_Mutation_p.V363L|AMER1_ENST00000374869.3_Missense_Mutation_p.V363L	NM_152424.3	NP_689637.3			APC membrane recruitment protein 1									p.0?(67)									TGGTAGGTCACCAGGCAGGAA	0.532000													39	64					4.62619e-21	7.07892e-21	1	1	0
MCTP2	55784	broad.mit.edu	37	15	94884137	94884137	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:94884137G>A	ENST00000357742.4	+	6	953	c.953G>A	c.(952-954)gGt>gAt	p.G318D	MCTP2_ENST00000451018.3_Missense_Mutation_p.G318D|MCTP2_ENST00000543482.1_Missense_Mutation_p.G318D|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	318					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GTAAAACAGGGTGATTTCAAG	0.373000													6	6					0	0	1	0	0
OR6K2	81448	broad.mit.edu	37	1	158670292	158670292	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:158670292A>C	ENST00000359610.2	-	1	194	c.151T>G	c.(151-153)Ttg>Gtg	p.L51V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGAGTATTCAACTGGACCACT	0.438000													19	16					0	0	1	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361050	70361050	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:70361050C>T	ENST00000305107.6	-	1	576	c.530G>A	c.(529-531)gGc>gAc	p.G177D	UGT2B4_ENST00000381096.3_Missense_Mutation_p.G41D|UGT2B4_ENST00000512583.1_Missense_Mutation_p.G177D|UGT2B4_ENST00000506580.1_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	177					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AATTGCGTAGCCAGGAGAGAA	0.453000													6	6					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308963	248308963	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:248308963C>A	ENST00000366476.1	+	1	514	c.514C>A	c.(514-516)Cgg>Agg	p.R172R		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R172W(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			CTGTGGGTCTCGGGAAATAGC	0.433000													114	138					1.26781e-57	2.14242e-57	1	1	0
REG1P	5969	broad.mit.edu	37	2	79363199	79363199	+	RNA	SNP	A	A	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:79363199A>C	ENST00000444841.1	-	0	1139																											TGATAATGGCAGTTCTAGATG	0.512000													3	8					0	0	1	0	0
TMOD3	29766	broad.mit.edu	37	15	52155205	52155205	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:52155205G>T	ENST00000308580.7	+	2	405	c.124G>T	c.(124-126)Gag>Tag	p.E42*	TMOD3_ENST00000544199.1_Nonsense_Mutation_p.E42*	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	42						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		TCTTGACCCCGAGGTAGGTGC	0.408000													29	39					8.58068e-18	1.26647e-17	1	1	0
SLC25A31	83447	broad.mit.edu	37	4	128688336	128688336	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:128688336G>T	ENST00000281154.4	+	4	762	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	198					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GCATCATTGTGTACCGAGCCT	0.353000													16	11					9.16793e-09	1.12524e-08	1	1	0
SAMD9L	219285	broad.mit.edu	37	7	92761348	92761348	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:92761348A>G	ENST00000318238.4	-	5	5153	c.3937T>C	c.(3937-3939)Tgt>Cgt	p.C1313R	SAMD9L_ENST00000411955.1_Missense_Mutation_p.C1313R|SAMD9L_ENST00000437805.1_Missense_Mutation_p.C1313R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1313										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TGTAATAGACATGGATCCAAA	0.378000													18	30					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020595	73020595	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:73020595G>T	ENST00000263674.3	+	1	1262	c.912G>T	c.(910-912)caG>caT	p.Q304H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	304					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TATTGGATCAGGACTGCAGGC	0.637000													16	75					2.35188e-11	3.07432e-11	1	1	0
ZFYVE26	23503	broad.mit.edu	37	14	68229448	68229448	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:68229448C>G	ENST00000347230.4	-	33	6238	c.6100G>C	c.(6100-6102)Gca>Cca	p.A2034P	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A2034P	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2034					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGGTTACTGCAGCTGGCTGC	0.493000													9	20					0	0	1	0	0
AKAP1	8165	broad.mit.edu	37	17	55184117	55184117	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:55184117C>T	ENST00000337714.3	+	2	1525	c.1292C>T	c.(1291-1293)cCa>cTa	p.P431L	AKAP1_ENST00000571629.1_Missense_Mutation_p.P431L|AKAP1_ENST00000314126.3_Missense_Mutation_p.P431L|AKAP1_ENST00000539273.1_Missense_Mutation_p.P431L|AKAP1_ENST00000572557.1_Missense_Mutation_p.P431L	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	431					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GGCTCACCACCACCAAAGACC	0.627000													48	60					0	0	1	0	0
PCYOX1	51449	broad.mit.edu	37	2	70504289	70504289	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:70504289C>G	ENST00000433351.2	+	6	1311	c.1283C>G	c.(1282-1284)gCt>gGt	p.A428G	PCYOX1_ENST00000264441.5_3'UTR|PCYOX1_ENST00000545138.1_Missense_Mutation_p.A350G|PCYOX1_ENST00000505044.2_Missense_Mutation_p.A351G	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	428					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						TATGATTATGCTGTGAAGAAG	0.413000													27	35					0	0	1	0	0
LRRK1	79705	broad.mit.edu	37	15	101593270	101593270	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:101593270A>G	ENST00000284395.5	+	26	4224	c.3824A>G	c.(3823-3825)aAg>aGg	p.K1275R	LRRK1_ENST00000388948.3_Missense_Mutation_p.K1278R|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1278	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAAAAATTCAAGAACTTTGCT	0.597000													23	17					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234363	8234363	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:8234363T>G	ENST00000520004.1	-	3	1820	c.1556A>C	c.(1555-1557)cAg>cCg	p.Q519P	SGK223_ENST00000330777.4_Missense_Mutation_p.Q519P			Q86YV5	SG223_HUMAN		519							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCTCAGCCCCTGCCCAGCCGA	0.622000													5	24					0	0	1	0	0
LOC101243545	101243545	broad.mit.edu	37	3	161147038	161147038	+	RNA	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:161147038G>C	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						CAATGTCATAGAGCTTCTTCA	0.448000													5	63					0	0	1	0	0
POMK	84197	broad.mit.edu	37	8	42977316	42977316	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:42977316G>T	ENST00000331373.5	+	5	604	c.349G>T	c.(349-351)Gat>Tat	p.D117Y		NM_001277971.1|NM_032237.3	NP_001264900.1|NP_115613.1	Q9H5K3	SG196_HUMAN		117	Protein kinase.					integral to membrane	ATP binding|protein kinase activity										GGAGATGAAAGATGATTTCCT	0.483000													7	32					0.00307968	0.00319476	1	1	0
SEMA7A	8482	broad.mit.edu	37	15	74707046	74707046	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:74707046T>A	ENST00000261918.4	-	10	1684	c.1136A>T	c.(1135-1137)cAg>cTg	p.Q379L	SEMA7A_ENST00000542748.1_Missense_Mutation_p.Q214L|SEMA7A_ENST00000543145.2_Missense_Mutation_p.Q365L	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	379	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GTCAGCCACCTGGAAGGTCTC	0.627000													19	94					0	0	1	0	0
SLC4A10	57282	broad.mit.edu	37	2	162735675	162735675	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:162735675G>T	ENST00000375514.5	+	9	1213	c.926G>T	c.(925-927)gGt>gTt	p.G309V	SLC4A10_ENST00000446997.1_Missense_Mutation_p.G328V|SLC4A10_ENST00000272716.5_Missense_Mutation_p.G298V|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000415876.2_Missense_Mutation_p.G298V|SLC4A10_ENST00000421911.1_Missense_Mutation_p.G328V|SLC4A10_ENST00000535165.1_Missense_Mutation_p.G328V	NM_001178016.1	NP_001171487.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	328					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTCCTCCAGGTGCTGAAGCA	0.403000													19	17					9.7654e-05	0.000105822	1	1	0
USP2	9099	broad.mit.edu	37	11	119228471	119228471	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:119228471C>A	ENST00000260187.2	-	10	1791	c.1497G>T	c.(1495-1497)gtG>gtT	p.V499V	USP2_ENST00000455332.2_Silent_p.V256V|USP2_ENST00000525735.1_Silent_p.V290V	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	499	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		GGATACGGAGCACCAAGATCT	0.502000													128	148					2.02856e-45	3.38384e-45	1	1	0
TENM2	57451	broad.mit.edu	37	5	167420050	167420050	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:167420050G>T	ENST00000519204.1	+	4	804	c.686G>T	c.(685-687)cGc>cTc	p.R229L	TENM2_ENST00000403607.2_Missense_Mutation_p.R183L|TENM2_ENST00000545108.1_Missense_Mutation_p.R350L|TENM2_ENST00000520394.1_Missense_Mutation_p.R159L|TENM2_ENST00000518659.1_Missense_Mutation_p.R350L					teneurin transmembrane protein 2																		CCCCCGCCCCGCCTGCTGCCC	0.587000													20	40					4.96729e-08	5.9587e-08	1	1	0
FGF18	8817	broad.mit.edu	37	5	170883633	170883633	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:170883633T>C	ENST00000274625.5	+	5	992	c.448T>C	c.(448-450)Tac>Cac	p.Y150H		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	150					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCCGGCTGGTACGTGGGCTT	0.617000													32	70					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92987900	92987900	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:92987900G>T	ENST00000268164.3	+	5	820	c.583G>T	c.(583-585)Gat>Tat	p.D195Y	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.D174Y	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	195					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GTATGCCCGGGATGTGGGGCT	0.567000													14	47					2.61681e-11	3.40157e-11	1	1	0
ACVRL1	94	broad.mit.edu	37	12	52307367	52307367	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:52307367C>G	ENST00000550683.1	+	3	481	c.380C>G	c.(379-381)cCg>cGg	p.P127R	ACVRL1_ENST00000419526.2_Intron|ACVRL1_ENST00000388922.4_Missense_Mutation_p.P113R	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	113					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TCGGAGCAGCCGGGAACAGAT	0.687000													19	22					0	0	1	0	0
AK5	26289	broad.mit.edu	37	1	78024306	78024306	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:78024306C>A	ENST00000344720.5	+	14	2588	c.1562C>A	c.(1561-1563)cCa>cAa	p.P521Q	AK5_ENST00000478255.1_Missense_Mutation_p.P62Q|AK5_ENST00000354567.2_Missense_Mutation_p.P547Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	547					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GAGGGAACACCAGAGGACGTT	0.313000													3	19					6.4e-05	6.97574e-05	1	1	0
PTMS	5763	broad.mit.edu	37	12	6879567	6879567	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:6879567G>T	ENST00000309083.6	+	5	597	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	PTMS_ENST00000538057.1_3'UTR|PTMS_ENST00000389462.4_3'UTR	NM_002824.4	NP_002815.3	P20962	PTMS_HUMAN	parathymosin	90	Asp/Glu-rich (acidic).				DNA replication	nucleus				endometrium(2)|large_intestine(2)|liver(1)	5						GGATGAAGCGGATCCCAAACG	0.652000													33	81					2.47316e-13	3.36488e-13	1	1	0
DEFB119	245932	broad.mit.edu	37	20	29978350	29978350	+	Translation_Start_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:29978350G>T	ENST00000339144.3	-	0	43				DEFB119_ENST00000376321.3_De_novo_Start_OutOfFrame|DEFB119_ENST00000492344.1_5'UTR			Q8N690	DB119_HUMAN	defensin, beta 119						defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GTTCCCTGCAGCACGGCAGAG	0.522000													7	30					0.0293803	0.0297891	1	1	0
NLRP10	338322	broad.mit.edu	37	11	7981413	7981413	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:7981413G>T	ENST00000328600.2	-	2	1907	c.1746C>A	c.(1744-1746)aaC>aaA	p.N582K		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	582							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATGATACATTGTTCATCTGAA	0.363000													5	15					1.23904e-05	1.37724e-05	1	1	0
PHF20	51230	broad.mit.edu	37	20	34526626	34526626	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:34526626G>T	ENST00000374012.3	+	16	2437	c.2308G>T	c.(2308-2310)Gag>Tag	p.E770*	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	770					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CAGAAGCCGGGAGCATCCTGA	0.532000													27	95					7.01153e-11	9.04364e-11	1	1	0
CCNB3	85417	broad.mit.edu	37	X	50094260	50094260	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:50094260C>A	ENST00000376042.1	+	12	4279	c.3981C>A	c.(3979-3981)taC>taA	p.Y1327*	CCNB3_ENST00000348603.2_Nonsense_Mutation_p.Y223*|CCNB3_ENST00000376038.1_Nonsense_Mutation_p.Y223*|CCNB3_ENST00000276014.7_Nonsense_Mutation_p.Y1327*			Q8WWL7	CCNB3_HUMAN	cyclin B3	1327					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGGAGCATTACAGTGGCTACA	0.458000													69	73					1.74474e-33	2.8413e-33	1	1	0
HNRNPAB	3182	broad.mit.edu	37	5	177633748	177633748	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:177633748G>A	ENST00000358344.3	+	4	651	c.394G>A	c.(394-396)Gag>Aag	p.E132K	HNRNPAB_ENST00000515193.1_Missense_Mutation_p.E132K|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.E132K|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.E132K|HNRNPAB_ENST00000506339.1_Missense_Mutation_p.E132K|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.E132K|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.E132K	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN	heterogeneous nuclear ribonucleoprotein A/B	131	RRM 1.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			large_intestine(4)|prostate(1)|urinary_tract(1)	6						AGACCAGAAGGAGCACAGGCT	0.527000													25	51					0	0	1	0	0
DGUOK	1716	broad.mit.edu	37	2	74184313	74184313	+	Missense_Mutation	SNP	A	A	G	rs137902450	byFrequency	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:74184313A>G	ENST00000264093.4	+	5	738	c.653A>G	c.(652-654)tAt>tGt	p.Y218C	DGUOK_ENST00000348222.1_Intron|DGUOK-AS1_ENST00000453103.1_RNA|DGUOK_ENST00000462685.1_Intron|DGUOK_ENST00000356837.6_Missense_Mutation_p.Y196C	NM_080916.2	NP_550438.1	Q16854	DGUOK_HUMAN	deoxyguanosine kinase	218					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						GAGCTGGCCTATCTAGAGCAG	0.507000													24	20					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24924299	24924299	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:24924299C>A	ENST00000329468.2	+	1	3759	c.3285C>A	c.(3283-3285)acC>acA	p.T1095T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ACCCACCTACCCAGAATTCAT	0.527000													37	35					9.8876e-21	1.50116e-20	1	1	0
OR2T3	343173	broad.mit.edu	37	1	248637245	248637245	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:248637245C>A	ENST00000359594.2	+	1	619	c.594C>A	c.(592-594)tcC>tcA	p.S198S		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGACGTCTCCCTCTATAAGA	0.522000													108	150					7.56076e-47	1.26301e-46	1	1	0
GTF2IRD1	9569	broad.mit.edu	37	7	73929692	73929692	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:73929692A>T	ENST00000455841.2	+	4	496	c.283A>T	c.(283-285)Agg>Tgg	p.R95W	GTF2IRD1_ENST00000265755.3_Intron|GTF2IRD1_ENST00000489094.1_Intron|GTF2IRD1_ENST00000476977.1_Intron|GTF2IRD1_ENST00000424337.2_Intron	NM_001199207.1	NP_001186136.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	89						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGCTCAGCACAGGGCAGCGAC	0.577000													3	1					0	0	1	0	0
PRNT	149830	broad.mit.edu	37	20	4713094	4713094	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:4713094G>T	ENST00000326539.2	-	2	1166	c.229C>A	c.(229-231)Cag>Aag	p.Q77K	PRNT_ENST00000423718.2_Missense_Mutation_p.Q77K|PRNT_ENST00000418528.1_Missense_Mutation_p.Q77K																endometrium(2)|lung(5)	7						actggaatctgcagatgccac	0.453000													5	9					0.000602214	0.000636034	1	1	0
CFDP1	10428	broad.mit.edu	37	16	75448534	75448534	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:75448534C>T	ENST00000283882.3	-	2	256	c.124G>A	c.(124-126)Gaa>Aaa	p.E42K	CFDP1_ENST00000564286.1_5'UTR|RP11-77K12.1_ENST00000567194.1_Missense_Mutation_p.E99K|RP11-77K12.1_ENST00000561887.1_Intron	NM_006324.2	NP_006315.1	Q9UEE9	CFDP1_HUMAN	craniofacial development protein 1	42	Glu-rich.				multicellular organismal development					endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5						GTCTGCTCTTCACCATCCACT	0.438000													38	6					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152423892	152423892	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:152423892C>T	ENST00000397345.3	-	114	18148	c.17946G>A	c.(17944-17946)caG>caA	p.Q5982Q	NEB_ENST00000172853.10_Silent_p.Q4281Q|NEB_ENST00000603639.1_Silent_p.Q5982Q|NEB_ENST00000427231.2_Silent_p.Q5982Q|NEB_ENST00000409198.1_Silent_p.Q4281Q|NEB_ENST00000604864.1_Silent_p.Q5982Q	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	6004					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTCTGAATCTGGCCTGCAT	0.443000													7	14					0	0	1	0	0
SCD5	79966	broad.mit.edu	37	4	83602009	83602009	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:83602009C>T	ENST00000319540.4	-	3	739	c.420G>A	c.(418-420)acG>acA	p.T140T	SCD5_ENST00000273908.4_Silent_p.T140T	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	140					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GGTCAGCATCCGTCTCTGAGT	0.552000													19	64					0	0	1	0	0
PEAR1	375033	broad.mit.edu	37	1	156883222	156883222	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:156883222C>T	ENST00000338302.3	+	21	2776	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	PEAR1_ENST00000292357.7_Missense_Mutation_p.R851W			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	851	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAACCCTGAGCGGCCAGGTGG	0.647000													30	29					0	0	1	0	0
PPP1R3F	89801	broad.mit.edu	37	X	49127236	49127236	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:49127236C>G	ENST00000055335.6	+	1	920	c.904C>G	c.(904-906)Cag>Gag	p.Q302E	PPP1R3F_ENST00000438316.1_5'UTR|PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_5'UTR	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	302						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCTGCCCCAGCAGCAGCAGCT	0.672000													11	9					0	0	1	0	0
VAMP8	8673	broad.mit.edu	37	2	85808749	85808749	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:85808749G>A	ENST00000263864.5	+	3	369	c.213G>A	c.(211-213)tgG>tgA	p.W71*	VAMP8_ENST00000432071.1_Nonsense_Mutation_p.W45*|VAMP8_ENST00000409760.1_3'UTR	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	71	v-SNARE coiled-coil homology.				post-Golgi vesicle-mediated transport	early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane				breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						AATTCTGGTGGAAGAACGTGA	0.478000													74	100					0	0	1	0	0
S100A9	6280	broad.mit.edu	37	1	153333232	153333232	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:153333232G>A	ENST00000368738.3	+	3	306	c.263G>A	c.(262-264)tGg>tAg	p.W88*		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	88	EF-hand 2.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCTAACCTGGGCCTCCCAC	0.572000													18	43					0	0	1	0	0
RFTN2	130132	broad.mit.edu	37	2	198498471	198498471	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:198498471G>T	ENST00000295049.3	-	4	1225	c.689C>A	c.(688-690)cCt>cAt	p.P230H		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	230						plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						AGAGGAAGTAGGGCTGCCATT	0.358000													12	37					2.27111e-07	2.67486e-07	1	1	0
CD5L	922	broad.mit.edu	37	1	157804439	157804439	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:157804439C>A	ENST00000368174.4	-	4	572	c.476G>T	c.(475-477)tGg>tTg	p.W159L		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	159	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACGGTATACCACTGGTTCTG	0.622000													28	71					2.12542e-12	2.82259e-12	1	1	0
GTSF1L	149699	broad.mit.edu	37	20	42355158	42355158	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:42355158A>T	ENST00000373003.1	-	1	480	c.177T>A	c.(175-177)caT>caA	p.H59Q	GTSF1L_ENST00000373005.2_Missense_Mutation_p.H59Q	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	59							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AAACAGCCTCATGTTCCTCCA	0.522000													15	38					0	0	1	0	0
SFTPA1	653509	broad.mit.edu	37	10	81371735	81371735	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:81371735G>A	ENST00000398636.3	+	3	292	c.154G>A	c.(154-156)Gga>Aga	p.G52R	SFTPA1_ENST00000428376.2_Missense_Mutation_p.G52R|SFTPA1_ENST00000372313.5_Intron|SFTPA1_ENST00000372308.3_Missense_Mutation_p.G52R|SFTPA1_ENST00000419470.2_Missense_Mutation_p.G67R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	52	Collagen-like.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			TGGTCTCAAAGGAGACCCTGG	0.622000													17	4					0	0	1	0	0
SLC26A5	375611	broad.mit.edu	37	7	103061818	103061818	+	Translation_Start_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:103061818C>A	ENST00000354356.4	-	0	310				SLC26A5_ENST00000306312.3_Missense_Mutation_p.Q48H|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Q48H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Q48H|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Q48H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Q48H|SLC26A5_ENST00000393735.2_Missense_Mutation_p.Q48H|SLC26A5_ENST00000356767.4_Missense_Mutation_p.Q48H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Q48H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Q48H			P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5						regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						ACGTGAATGCCTGTTTCAGCT	0.423000													11	28					5.16669e-11	6.69373e-11	1	1	0
ROS1	6098	broad.mit.edu	37	6	117710577	117710577	+	Silent	SNP	C	C	A	rs138192393		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:117710577C>A	ENST00000368508.3	-	12	1893	c.1695G>T	c.(1693-1695)tcG>tcT	p.S565S	ROS1_ENST00000368507.3_Silent_p.S574S|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	565	Fibronectin type-III 3.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAAACAGCACCGAAAGCTCCT	0.562000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								38	33					1.66425e-11	2.18281e-11	1	1	0
RIN1	9610	broad.mit.edu	37	11	66103128	66103128	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:66103128G>C	ENST00000311320.4	-	4	534	c.408C>G	c.(406-408)ctC>ctG	p.L136L	RIN1_ENST00000424433.2_Silent_p.L31L|RIN1_ENST00000530056.1_Silent_p.L31L|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	136	SH2.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CTGGGAACATGAGCTCCGAGC	0.657000													12	6					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40730905	40730905	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:40730905G>T	ENST00000373198.3	-	27	3874	c.3639C>A	c.(3637-3639)ccC>ccA	p.P1213P	PTPRT_ENST00000356100.2_Silent_p.P1200P|PTPRT_ENST00000373184.1_Silent_p.P1201P|PTPRT_ENST00000373187.1_Silent_p.P1191P|PTPRT_ENST00000373190.1_Silent_p.P1190P|PTPRT_ENST00000373201.1_Silent_p.P1181P|PTPRT_ENST00000373193.3_Silent_p.P1194P	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1191	Tyrosine-protein phosphatase 2.		P -> L (in an acute myeloid leukemia sample; somatic mutation).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGCAGTCCTCGGGCCGCACAC	0.567000													17	18					5.3912e-06	6.06771e-06	1	1	0
BEST2	54831	broad.mit.edu	37	19	12866459	12866459	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:12866459C>A	ENST00000549706.1	+	7	1069	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	BEST2_ENST00000553030.1_Missense_Mutation_p.L249M|BEST2_ENST00000042931.1_Missense_Mutation_p.L249M			Q8NFU1	BEST2_HUMAN	bestrophin 2	249					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						CAGCTACTTCCTGGCTTGCCT	0.577000													40	11					8.16904e-11	1.0525e-10	1	1	0
TRIM17	51127	broad.mit.edu	37	1	228602674	228602674	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:228602674T>C	ENST00000366697.2	-	1	1056	c.100A>G	c.(100-102)Aac>Gac	p.N34D	TRIM17_ENST00000456946.2_Missense_Mutation_p.N34D|TRIM17_ENST00000295033.3_Missense_Mutation_p.N34D|TRIM17_ENST00000366698.2_Missense_Mutation_p.N34D			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	34					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CGGCAGAAGTTGTGGCCACAG	0.597000													18	29					0	0	1	0	0
ELANE	1991	broad.mit.edu	37	19	852341	852341	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:852341C>A	ENST00000590230.1	+	2	154	c.13C>A	c.(13-15)Cgc>Agc	p.R5S	ELANE_ENST00000263621.1_Missense_Mutation_p.R5S			P08246	ELNE_HUMAN	elastase, neutrophil expressed	5					cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GACCCTCGGCCGCCGACTCGC	0.682000													10	3					9.31168e-06	1.03799e-05	1	1	0
GPR125	166647	broad.mit.edu	37	4	22389997	22389997	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:22389997T>A	ENST00000334304.5	-	19	3566	c.3297A>T	c.(3295-3297)acA>acT	p.T1099T	GPR125_ENST00000282943.5_5'UTR	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	1099					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CACTTTTGTTTGTGCATGAAG	0.498000													15	26					0	0	1	0	0
SPEN	23013	broad.mit.edu	37	1	16259230	16259230	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:16259230A>G	ENST00000375759.3	+	11	6699	c.6495A>G	c.(6493-6495)ttA>ttG	p.L2165L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2165	Interaction with MSX2 (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCACCCAGTTAGCCAAGCAGA	0.557000													44	90					0	0	1	0	0
FAM83A	84985	broad.mit.edu	37	8	124204100	124204100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:124204100G>T	ENST00000518448.1	+	3	2552	c.538G>T	c.(538-540)Gag>Tag	p.E180*	FAM83A_ENST00000536633.1_Nonsense_Mutation_p.E180*|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000276699.6_Nonsense_Mutation_p.E180*|FAM83A_ENST00000318462.6_Nonsense_Mutation_p.E180*			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	180										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TGACATTCTAGAGGCAGCCAA	0.547000													75	88					1.15773e-35	1.89861e-35	1	1	0
ZNF721	170960	broad.mit.edu	37	4	437352	437352	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:437352C>T	ENST00000338977.5	-	2	916	c.868G>A	c.(868-870)Gag>Aag	p.E290K	ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.E302K|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TAGGGTTTCTCTCCAGTATGA	0.393000													22	30					0	0	1	0	0
ZNF408	79797	broad.mit.edu	37	11	46726465	46726465	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:46726465G>T	ENST00000311764.2	+	5	1445	c.1215G>T	c.(1213-1215)ggG>ggT	p.G405G		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCACCGTGGGGTGCGGCCCT	0.582000													19	43					2.4624e-09	3.06747e-09	1	1	0
ASIC4	55515	broad.mit.edu	37	2	220379609	220379609	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:220379609G>C	ENST00000358078.4	+	1	558	c.544G>C	c.(544-546)Ggc>Cgc	p.G182R	AC053503.11_ENST00000429882.1_RNA|ASIC4_ENST00000347842.3_Missense_Mutation_p.G182R			Q96FT7	ACCN4_HUMAN	acid-sensing (proton-gated) ion channel family member 4	182						integral to plasma membrane	sodium channel activity|sodium ion transmembrane transporter activity										GCATGGACTGGGCCGGGCCTG	0.706000													37	109					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10231254	10231254	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:10231254G>T	ENST00000418404.3	-	21	2783	c.2620C>A	c.(2620-2622)Cgg>Agg	p.R874R	MYH13_ENST00000252172.4_Silent_p.R874R|MYH13_ENST00000570743.1_Silent_p.R874R|RP11-401O9.3_ENST00000577743.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	874					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCTCCTTCCGGCGAGCCTCA	0.537000											OREG0024177	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	6					1.45105e-14	2.02869e-14	1	1	0
TMPRSS11D	9407	broad.mit.edu	37	4	68708299	68708299	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:68708299G>T	ENST00000283916.6	-	4	392	c.294C>A	c.(292-294)atC>atA	p.I98I	RP11-453E17.1_ENST00000500538.2_RNA|TMPRSS11D_ENST00000509584.1_5'UTR|TMPRSS11D_ENST00000545541.1_5'UTR	NM_004262.2	NP_004253.1	O60235	TM11D_HUMAN	transmembrane protease, serine 11D	98	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CATGAGCTCTGATGAACTGAT	0.338000													7	8					0.000157383	0.000169289	1	1	0
TRAV12-3	28672	broad.mit.edu	37	14	22434023	22434023	+	RNA	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:22434023G>T	ENST00000390442.3	+	0	132																											ACAGAAGGAGGTGGAGCAGGA	0.473000													20	9					2.4624e-09	3.06747e-09	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38357316	38357316	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:38357316A>G	ENST00000379705.3	-	2	1012	c.155T>C	c.(154-156)cTa>cCa	p.L52P	TRPC4_ENST00000338947.5_Missense_Mutation_p.L52P|TRPC4_ENST00000426868.2_Missense_Mutation_p.L52P|TRPC4_ENST00000379681.3_Missense_Mutation_p.L52P|TRPC4_ENST00000379679.1_Missense_Mutation_p.L52P|TRPC4_ENST00000447043.1_Missense_Mutation_p.L52P|TRPC4_ENST00000379673.2_Missense_Mutation_p.L52P|TRPC4_ENST00000355779.2_Missense_Mutation_p.L52P|TRPC4_ENST00000358477.2_Missense_Mutation_p.L52P			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	52					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGCTTCCTCTAGGGATTTCTT	0.393000													31	37					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1551498	1551498	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:1551498G>T	ENST00000262319.6	+	10	1638	c.1359G>T	c.(1357-1359)gcG>gcT	p.A453A		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	453						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CCTCGGAGGCGGGGTGAGGGT	0.667000													8	21					4.68919e-08	5.64251e-08	1	1	0
AHCYL1	10768	broad.mit.edu	37	1	110553964	110553964	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:110553964G>A	ENST00000369799.5	+	3	728	c.361G>A	c.(361-363)Gag>Aag	p.E121K	AHCYL1_ENST00000359172.3_Missense_Mutation_p.E74K|AHCYL1_ENST00000393614.4_Missense_Mutation_p.E74K|AHCYL1_ENST00000475081.1_3'UTR	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	121					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		CCGGGAGATTGAGATTGCAGA	0.483000													18	32					0	0	1	0	0
PSG11	5680	broad.mit.edu	37	19	43522990	43522990	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:43522990G>A	ENST00000401740.1	-	3	744	c.641C>T	c.(640-642)cCc>cTc	p.P214L	PSG11_ENST00000403486.1_Missense_Mutation_p.P92L|PSG11_ENST00000595312.1_5'UTR|PSG11_ENST00000320078.7_Missense_Mutation_p.P214L|PSG11_ENST00000306322.7_Missense_Mutation_p.P92L			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	214	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACATTCATAGGGTCCTGCAGT	0.502000													592	221					0	0	1	0	0
CYP4A11	1579	broad.mit.edu	37	1	47400767	47400767	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:47400767A>G	ENST00000310638.4	-	6	726	c.695T>C	c.(694-696)gTg>gCg	p.V232A	CYP4A11_ENST00000457840.2_Intron|CYP4A11_ENST00000475477.1_Intron|CYP4A11_ENST00000371905.1_Missense_Mutation_p.V232A|CYP4A11_ENST00000371904.4_Missense_Mutation_p.V232A	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	232					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GGCATTCCTCACACGGGAAAA	0.552000													56	46					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56467786	56467786	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:56467786T>C	ENST00000370754.5	-	42	11101	c.11102A>G	c.(11101-11103)aAg>aGg	p.K3701R	DST_ENST00000361203.3_Missense_Mutation_p.K3523R|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.K3197R|DST_ENST00000370769.4_Missense_Mutation_p.K3523R|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Missense_Mutation_p.K3523R			Q03001	DYST_HUMAN	dystonin	3523					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAGAATGACTTAAGTTTATG	0.328000													8	3					0	0	1	0	0
CAPRIN2	65981	broad.mit.edu	37	12	30872088	30872088	+	Silent	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:30872088T>C	ENST00000251071.5	-	13	2970	c.2220A>G	c.(2218-2220)gaA>gaG	p.E740E	CAPRIN2_ENST00000395805.2_Silent_p.E705E|CAPRIN2_ENST00000417045.1_Silent_p.E740E|CAPRIN2_ENST00000298892.5_Intron|CAPRIN2_ENST00000308433.5_Silent_p.E407E	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	740					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GGAAGCCCTGTTCAGAGCCCT	0.498000													28	74					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1137353	1137353	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:1137353G>T	ENST00000397203.2	+	2	690	c.284G>T	c.(283-285)gGg>gTg	p.G95V	ERC1_ENST00000589028.1_Missense_Mutation_p.G95V|ERC1_ENST00000546231.2_Missense_Mutation_p.G95V|ERC1_ENST00000543086.3_Missense_Mutation_p.G95V|ERC1_ENST00000360905.4_Missense_Mutation_p.G95V|ERC1_ENST00000355446.5_Missense_Mutation_p.G95V			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	95					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)			GGCCGTTCTGGGGGACGTCTG	0.493000													42	20					6.33695e-27	1.00941e-26	1	1	0
ZNF91	7644	broad.mit.edu	37	19	23543765	23543765	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:23543765G>A	ENST00000300619.7	-	4	2221	c.2016C>T	c.(2014-2016)acC>acT	p.T672T	ZNF91_ENST00000397082.2_Silent_p.T640T|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	672						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GATTAGCAAGGGTTGAGGAAT	0.353000													15	3					0	0	1	0	0
CACNG8	59283	broad.mit.edu	37	19	54485520	54485520	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:54485520G>A	ENST00000270458.2	+	4	798	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_031895.5	NP_114101.4	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	232					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		GAGCGCAGCCGCGAGGCGCAC	0.692000													14	3					0	0	1	0	0
LCTL	197021	broad.mit.edu	37	15	66857109	66857109	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:66857109G>T	ENST00000341509.5	-	2	318	c.187C>A	c.(187-189)Cct>Act	p.P63T	LCTL_ENST00000563438.1_5'UTR|LCTL_ENST00000537670.1_Intron	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	63					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGATGCTAGGCCCTTTCCCG	0.627000													56	57					1.59911e-31	2.57893e-31	1	1	0
ZNF770	54989	broad.mit.edu	37	15	35274094	35274094	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:35274094C>A	ENST00000356321.4	-	3	1886	c.1542G>T	c.(1540-1542)caG>caT	p.Q514H		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		AGTGAGCTGACTGTCTAAAAG	0.343000													8	25					5.18039e-06	5.84737e-06	1	1	0
SUN3	256979	broad.mit.edu	37	7	48046905	48046905	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:48046905C>A	ENST00000453192.2	-	6	556	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	SUN3_ENST00000412142.1_Nonsense_Mutation_p.E17*|SUN3_ENST00000297325.4_Nonsense_Mutation_p.E117*|SUN3_ENST00000395572.2_Nonsense_Mutation_p.E117*			Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	117						integral to membrane		p.E117K(1)		central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAATTGTTTTCCAGATTCTGG	0.413000													17	10					2.23348e-06	2.55819e-06	1	1	0
FLG2	388698	broad.mit.edu	37	1	152327855	152327855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:152327855G>A	ENST00000388718.5	-	3	2479	c.2407C>T	c.(2407-2409)Caa>Taa	p.Q803*	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	803	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTGGATTGACTTGAGCCT	0.527000													178	678					0	0	1	0	0
OLFM4	10562	broad.mit.edu	37	13	53603157	53603157	+	Silent	SNP	C	C	T	rs140500009		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:53603157C>T	ENST00000219022.2	+	1	264	c.186C>T	c.(184-186)agC>agT	p.S62S		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	62	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		gcTTAGGCAGCGGAGGTTCTG	0.562000													26	46					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64116851	64116851	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:64116851G>A	ENST00000356786.5	+	15	2709	c.2665G>A	c.(2665-2667)Gag>Aag	p.E889K	CCDC88B_ENST00000359902.2_Missense_Mutation_p.E41K|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	889					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGACCGGCTGGAGCATTTGCA	0.642000													6	11					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238275574	238275574	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:238275574T>A	ENST00000295550.4	-	11	5708	c.5256A>T	c.(5254-5256)ggA>ggT	p.G1752G	COL6A3_ENST00000346358.4_Silent_p.G1552G|COL6A3_ENST00000353578.4_Silent_p.G1546G|COL6A3_ENST00000409809.1_Silent_p.G1546G|COL6A3_ENST00000472056.1_Silent_p.G1145G|COL6A3_ENST00000347401.3_Silent_p.G1551G	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1752	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCGACTTTCCTCCCGTGATCA	0.592000													64	39					0	0	1	0	0
GAD2	2572	broad.mit.edu	37	10	26559626	26559626	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:26559626G>T	ENST00000376261.3	+	10	1536	c.1033G>T	c.(1033-1035)Gac>Tac	p.D345Y	GAD2_ENST00000259271.3_Missense_Mutation_p.D345Y	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	345					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CGGAGCATTTGACCCCCTCTT	0.488000													62	33					2.66076e-39	4.40063e-39	1	1	0
C1orf127	148345	broad.mit.edu	37	1	11008659	11008659	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:11008659C>A	ENST00000377004.4	-	12	1532	c.1533G>T	c.(1531-1533)gtG>gtT	p.V511V	C1orf127_ENST00000377008.4_Silent_p.V344V	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	362										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		CATCTGAGGACACGGGCAGGG	0.637000													18	54					3.32936e-07	3.89371e-07	1	1	0
USP37	57695	broad.mit.edu	37	2	219418392	219418392	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:219418392C>G	ENST00000258399.3	-	5	624	c.212G>C	c.(211-213)cGc>cCc	p.R71P	USP37_ENST00000415516.1_5'UTR|USP37_ENST00000338465.5_Missense_Mutation_p.R71P|USP37_ENST00000454775.1_Missense_Mutation_p.R71P|USP37_ENST00000418019.1_Missense_Mutation_p.R71P	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	71					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TAACATTAGGCGGCTTTGTTT	0.378000													13	29					0	0	1	0	0
FGF5	2250	broad.mit.edu	37	4	81188165	81188165	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:81188165C>G	ENST00000456523.3	+	1	373	c.187C>G	c.(187-189)Ccc>Gcc	p.P63A	FGF5_ENST00000312465.7_Missense_Mutation_p.P63A	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	63					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						CTCCTCCTCCCCCGCAGCTTC	0.642000													26	38					0	0	1	0	0
ZNF90	7643	broad.mit.edu	37	19	20229627	20229627	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:20229627G>C	ENST00000418063.2	+	4	1376	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	422						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						TCATACTGAAGAGAAACCCTA	0.388000													4	1					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155099300	155099300	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:155099300C>A	ENST00000392825.3	+	6	1135	c.568C>A	c.(568-570)Cgt>Agt	p.R190S	GALNT13_ENST00000409237.1_Missense_Mutation_p.R190S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	190	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGGGTTAATACGTGCCCGTCT	0.428000													9	20					0.0581538	0.0587076	1	1	0
HERC2P3	283755	broad.mit.edu	37	15	20643874	20643874	+	RNA	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:20643874G>A	ENST00000428453.1	-	0	3585																				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						GGGCAAACGTGACACGTCCGC	0.488000													21	52					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178378634	178378634	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:178378634C>T	ENST00000264167.4	+	17	1841	c.1695C>T	c.(1693-1695)tgC>tgT	p.C565C	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	565					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			TTTCTACATGCAGGTAAGTTT	0.313000													7	16					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55104056	55104056	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:55104056G>T	ENST00000491143.2	+	1	1140	c.1108G>T	c.(1108-1110)Gac>Tac	p.D370Y		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	370					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		GACTCTCTCCGACCTGCTCCG	0.602000													14	8					2.32078e-09	2.90347e-09	1	1	0
EVC2	132884	broad.mit.edu	37	4	5570314	5570314	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:5570314C>A	ENST00000310917.2	-	20	3905	c.3174G>T	c.(3172-3174)acG>acT	p.T1058T	EVC2_ENST00000344408.5_Silent_p.T1138T|EVC2_ENST00000344938.1_Silent_p.T1138T	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1138						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCCGGCGAAGCGTGGCCCCGG	0.637000													6	15					0.248553	0.24898	1	1	0
RELN	5649	broad.mit.edu	37	7	103341357	103341357	+	Splice_Site	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:103341357C>T	ENST00000424685.2	-	9	1061	c.902_splice	c.e9+1	p.R301_splice	RELN_ENST00000343529.5_Splice_Site_p.R301_splice|RELN_ENST00000428762.1_Splice_Site_p.R301_splice			P78509	RELN_HUMAN	reelin	301					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TACAACAAACCTAATTTTCTC	0.373000													26	23					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112455721	112455721	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:112455721G>A	ENST00000230538.7	-	26	3902	c.3505C>T	c.(3505-3507)Cct>Tct	p.P1169S	LAMA4_ENST00000389463.4_Missense_Mutation_p.P1162S|LAMA4_ENST00000424408.2_Missense_Mutation_p.P1162S|LAMA4_ENST00000522006.1_Missense_Mutation_p.P1162S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1169	Laminin G-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCTGTAAAAGGTATTTTCATC	0.378000													17	15					0	0	1	0	0
SLC25A31	83447	broad.mit.edu	37	4	128688334	128688334	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:128688334G>T	ENST00000281154.4	+	4	760	c.592G>T	c.(592-594)Gtg>Ttg	p.V198L		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	198					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						GGGCATCATTGTGTACCGAGC	0.358000													16	10					9.16793e-09	1.12524e-08	1	1	0
SPTBN1	6711	broad.mit.edu	37	2	54872492	54872492	+	Nonsense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:54872492A>T	ENST00000333896.5	+	20	4742	c.4357A>T	c.(4357-4359)Aag>Tag	p.K1453*	SPTBN1_ENST00000356805.4_Nonsense_Mutation_p.K1466*	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1466					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGTGCAGACCAAGTTCATGGA	0.557000													30	50					0	0	1	0	0
KCNQ4	9132	broad.mit.edu	37	1	41285080	41285080	+	Missense_Mutation	SNP	A	A	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:41285080A>C	ENST00000347132.5	+	5	852	c.770A>C	c.(769-771)tAc>tCc	p.Y257S	KCNQ4_ENST00000509682.2_Missense_Mutation_p.Y257S|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	257					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TTCCTGGTCTACCTGGCTGAG	0.652000													44	76					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113672268	113672268	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:113672268C>A	ENST00000003302.4	-	24	3063	c.2995G>T	c.(2995-2997)Gat>Tat	p.D999Y	USP28_ENST00000260188.5_Missense_Mutation_p.D967Y|USP28_ENST00000545540.1_Missense_Mutation_p.D842Y|USP28_ENST00000544967.1_Missense_Mutation_p.D675Y	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	999					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GCATCCAGATCATCCTTGGAA	0.393000													18	17					3.41278e-10	4.35372e-10	1	1	0
CPO	130749	broad.mit.edu	37	2	207824396	207824396	+	Silent	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:207824396C>G	ENST00000272852.3	+	5	460	c.414C>G	c.(412-414)ctC>ctG	p.L138L		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	138					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		TACGCAAGCTCCTTAGGAACC	0.358000													12	10					0	0	1	0	0
ARID1B	57492	broad.mit.edu	37	6	157495203	157495203	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:157495203A>T	ENST00000346085.5	+	11	3088	c.3087A>T	c.(3085-3087)aaA>aaT	p.K1029N	ARID1B_ENST00000350026.5_Missense_Mutation_p.K1016N|ARID1B_ENST00000367148.1_Missense_Mutation_p.K1016N|ARID1B_ENST00000478761.1_3'UTR|ARID1B_ENST00000275248.4_Missense_Mutation_p.K958N	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1016					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGCCTCTCAAAGCAGACGGCA	0.502000													23	9					0	0	1	0	0
PDE6A	5145	broad.mit.edu	37	5	149274854	149274854	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:149274854C>A	ENST00000255266.5	-	13	1740		c.e13-1			NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha						cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			GCACCAGGGCCTGTGAACACA	0.542000													28	51					2.79863e-10	3.57808e-10	1	1	0
FZD10	11211	broad.mit.edu	37	12	130647970	130647970	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:130647970C>G	ENST00000539839.1	+	1	967	c.385C>G	c.(385-387)Ctc>Gtc	p.L129V	FZD10_ENST00000229030.4_Silent_p.G161G	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	570	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCACCCGGGGCTCGGGCCTGT	0.731000													41	51					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190362170	190362170	+	Silent	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:190362170A>T	ENST00000412504.2	+	9	1437	c.1185A>T	c.(1183-1185)acA>acT	p.T395T	IL1RAP_ENST00000443369.2_Silent_p.T395T|IL1RAP_ENST00000317757.3_Silent_p.T395T|IL1RAP_ENST00000439062.1_Silent_p.T395T|IL1RAP_ENST00000072516.3_Silent_p.T395T|IL1RAP_ENST00000447382.1_Silent_p.T395T			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	395					inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATTTTGGAACAGATGAAACCA	0.358000													8	18					0	0	1	0	0
NCSTN	23385	broad.mit.edu	37	1	160325484	160325484	+	Silent	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:160325484T>C	ENST00000368063.1	+	13	1612	c.1332T>C	c.(1330-1332)aaT>aaC	p.N444N	NCSTN_ENST00000368065.4_Silent_p.N206N|NCSTN_ENST00000535857.1_Silent_p.N326N|NCSTN_ENST00000392212.4_Silent_p.N444N|NCSTN_ENST00000294785.5_Silent_p.N464N|NCSTN_ENST00000459963.1_3'UTR			Q92542	NICA_HUMAN	nicastrin	464					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGAACATTAATGTGAGCTATC	0.542000													21	24					0	0	1	0	0
ZMYM2	7750	broad.mit.edu	37	13	20577162	20577162	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:20577162G>C	ENST00000382869.3	+	4	1271	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	ZMYM2_ENST00000382874.2_Missense_Mutation_p.K340N|ZMYM2_ENST00000382881.3_Missense_Mutation_p.K253N|ZMYM2_ENST00000382871.2_Missense_Mutation_p.K340N	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTTTACAGAAGGGCCAGACAG	0.463000													9	21					0	0	1	0	0
RPL11	6135	broad.mit.edu	37	1	24021163	24021163	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:24021163A>T	ENST00000374550.3	+	4	323	c.278A>T	c.(277-279)gAg>gTg	p.E93V	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	93					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CGGGAGTATGAGTTAAGAAAA	0.428000													26	46					0	0	1	0	0
GPR173	54328	broad.mit.edu	37	X	53106628	53106628	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:53106628G>T	ENST00000332582.4	+	2	1316	c.825G>T	c.(823-825)atG>atT	p.M275I		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	275						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						TACTGGGCATGGACGAGGTCA	0.627000													5	24					0.000602214	0.000636034	1	1	0
C17orf64	124773	broad.mit.edu	37	17	58506911	58506911	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:58506911C>A	ENST00000269127.4	+	5	702	c.618C>A	c.(616-618)gtC>gtA	p.V206V		NM_181707.2	NP_859058.2	Q86WR6	CQ064_HUMAN	chromosome 17 open reading frame 64	206										breast(2)|large_intestine(1)|lung(3)	6	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;5.81e-13)|all cancers(12;2.17e-11)|Colorectal(3;0.01)			AGGACCATGTCAAGAAAGGTA	0.572000													15	41					0.000219431	0.000234947	1	1	0
FGFBP1	9982	broad.mit.edu	37	4	15938236	15938236	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:15938236G>T	ENST00000382333.1	-	3	314	c.20C>A	c.(19-21)aCc>aAc	p.T7N	FGFBP1_ENST00000259988.2_Missense_Mutation_p.T7N	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	7					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						GGAGAGCAGGGTGAGGCTACA	0.522000													30	33					1.88708e-17	2.77121e-17	1	1	0
DIAPH2	1730	broad.mit.edu	37	X	96194343	96194343	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:96194343A>G	ENST00000324765.8	+	12	1634	c.1287A>G	c.(1285-1287)ctA>ctG	p.L429L	DIAPH2_ENST00000355827.4_Silent_p.L429L|DIAPH2_ENST00000373061.3_Silent_p.L429L|DIAPH2_ENST00000373054.4_Silent_p.L425L|DIAPH2_ENST00000373049.4_Silent_p.L429L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	429	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TATCTATTCTACAACATTTTT	0.284000													17	31					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128359203	128359203	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:128359203G>A	ENST00000392668.3	-	5	585	c.517C>T	c.(517-519)Cta>Tta	p.L173L	ETS1_ENST00000319397.5_Silent_p.L129L|ETS1_ENST00000526145.1_Silent_p.L129L|ETS1_ENST00000345075.4_Silent_p.L129L|ETS1_ENST00000531611.1_Silent_p.L129L|ETS1_ENST00000535549.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	129					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGGATCTCTAGATGTTCCCAT	0.522000													16	121					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112450136	112450136	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:112450136A>T	ENST00000230538.7	-	31	4672	c.4275T>A	c.(4273-4275)agT>agA	p.S1425R	LAMA4_ENST00000389463.4_Missense_Mutation_p.S1418R|LAMA4_ENST00000424408.2_Missense_Mutation_p.S1418R|LAMA4_ENST00000522006.1_Missense_Mutation_p.S1418R	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1425					cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTTATTCTGACTTGCTTTAG	0.368000													5	17					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34158616	34158616	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:34158616C>G	ENST00000373381.4	-	25	4142	c.3966G>C	c.(3964-3966)caG>caC	p.Q1322H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.Q195H	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1282	CUB 8.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGACAGCACCTGCCCCGACA	0.577000													40	99					0	0	1	0	0
RLF	6018	broad.mit.edu	37	1	40703843	40703843	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:40703843G>C	ENST00000372771.4	+	8	3496	c.3469G>C	c.(3469-3471)Gaa>Caa	p.E1157Q		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	1157					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTATTCAAAAGAAAAAGTCCT	0.363000													32	30					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242035581	242035581	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:242035581G>T	ENST00000366548.3	+	12	2107		c.e12+1		EXO1_ENST00000348581.5_Splice_Site|EXO1_ENST00000518483.1_Splice_Site	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1						meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			CCAGAAGCAGGTATAGTTATG	0.323000								Editing and processing nucleases					28	50					2.08457e-15	2.97504e-15	1	1	0
SOD2	6648	broad.mit.edu	37	6	160106029	160106029	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:160106029G>A	ENST00000538183.1	-	4	540	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SOD2_ENST00000444946.2_Intron|SOD2_ENST00000367055.4_Missense_Mutation_p.S127F|SOD2_ENST00000367054.2_Missense_Mutation_p.S88F|SOD2_ENST00000337404.4_Missense_Mutation_p.S88F|SOD2_ENST00000546087.1_Missense_Mutation_p.S81F	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial	127					age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		CTTGTCAAAGGAACCAAAGTC	0.418000													32	6					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277807	113277807	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:113277807C>G	ENST00000297405.5	-	60	9765	c.9521G>C	c.(9520-9522)gGa>gCa	p.G3174A	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3005A|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3104A|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3134A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3174	Sushi 24.					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						ACCTGGGTCTCCACAACTGAT	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			15	24					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9440374	9440374	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:9440374C>T	ENST00000378501.2	+	31	3144	c.3129C>T	c.(3127-3129)ctC>ctT	p.L1043L	PLCB4_ENST00000334005.3_Silent_p.L1043L|PLCB4_ENST00000378473.3_Silent_p.L1055L|PLCB4_ENST00000278655.4_Silent_p.L1043L|PLCB4_ENST00000414679.2_Silent_p.L1055L|PLCB4_ENST00000492632.1_Intron|PLCB4_ENST00000378493.1_Silent_p.L1043L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	1043					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ACCTGCACCTCAGCCAGCAGT	0.512000													5	8					0	0	1	0	0
SLC30A6	55676	broad.mit.edu	37	2	32445404	32445404	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:32445404G>C	ENST00000282587.5	+	14	1045	c.1008G>C	c.(1006-1008)tgG>tgC	p.W336C	SLC30A6_ENST00000538303.1_Missense_Mutation_p.W307C|SLC30A6_ENST00000379343.2_Missense_Mutation_p.W376C|SLC30A6_ENST00000357055.3_Missense_Mutation_p.W139C|SLC30A6_ENST00000435660.1_Missense_Mutation_p.W313C|SLC30A6_ENST00000406369.1_Missense_Mutation_p.W262C	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	336						Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AGGATGACTGGATTAGGCCTG	0.428000													32	57					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44266242	44266242	+	Splice_Site	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:44266242G>C	ENST00000395749.2	-	20	1546	c.1468_splice	c.e20-1	p.S490_splice	CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000440254.2_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	490					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						AGATCCTGGGGGCTGGGGCGG	0.662000													33	25					0	0	1	0	0
TRERF1	55809	broad.mit.edu	37	6	42196328	42196328	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:42196328G>T	ENST00000541110.1	-	18	3986	c.3418C>A	c.(3418-3420)Cag>Aag	p.Q1140K	TRERF1_ENST00000372917.4_Missense_Mutation_p.Q1049K|TRERF1_ENST00000372922.4_Missense_Mutation_p.Q1120K|TRERF1_ENST00000340840.2_Missense_Mutation_p.Q1049K|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q1037K			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1120	Interacts with CREBBP.				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCGCCTTCTGAGCCTTTTGC	0.542000													268	216					1.44275e-132	2.46664e-132	1	1	0
ALS2CR12	130540	broad.mit.edu	37	2	202211265	202211265	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:202211265C>A	ENST00000405148.2	-	5	811	c.368_splice	c.e5+1	p.R123_splice	ALS2CR12_ENST00000439709.1_Splice_Site_p.R123_splice|ALS2CR12_ENST00000286190.5_Splice_Site_p.R123_splice|ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000392257.3_Splice_Site_p.R123_splice	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	123					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACAGCATTACCTGGAAAATCT	0.557000													24	51					2.98393e-07	3.51086e-07	1	1	0
RIMS1	22999	broad.mit.edu	37	6	73000441	73000441	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:73000441C>T	ENST00000521978.1	+	25	3614	c.3614C>T	c.(3613-3615)cCa>cTa	p.P1205L	RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000520567.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1205					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACTGATCAGCCAGTCATTAGG	0.507000													7	18					0	0	1	0	0
ANKRD33	341405	broad.mit.edu	37	12	52284676	52284676	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:52284676G>T	ENST00000301190.6	+	5	1173	c.946G>T	c.(946-948)Gcc>Tcc	p.A316S	ANKRD33_ENST00000538991.1_Missense_Mutation_p.A122S|ANKRD33_ENST00000340970.4_Missense_Mutation_p.A191S|ANKRD33_ENST00000547119.1_3'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	191										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACCAGCCTGGCCAGTCCCTT	0.622000													15	29					4.14922e-12	5.48525e-12	1	1	0
GPR98	84059	broad.mit.edu	37	5	89988567	89988567	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:89988567A>G	ENST00000405460.2	+	32	7193	c.7097A>G	c.(7096-7098)gAa>gGa	p.E2366G		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2366					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGCCTCTGGAAAGAAGTTCC	0.438000													5	3					0	0	1	0	0
FSTL4	23105	broad.mit.edu	37	5	132652222	132652222	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:132652222G>A	ENST00000265342.7	-	5	781	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	178	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GATTCCACCAGGAGGCGCTTC	0.567000											OREG0016777	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	35					0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42861727	42861727	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:42861727C>G	ENST00000334370.4	+	27	5436	c.4801C>G	c.(4801-4803)Ccc>Gcc	p.P1601A	MEGF8_ENST00000251268.6_Missense_Mutation_p.P1668A	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1668						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GAGTGGGACACCCCCCACAGG	0.672000													12	39					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113662579	113662579	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:113662579C>A	ENST00000297405.5	-	19	3249		c.e19-1		CSMD3_ENST00000455883.2_Splice_Site|CSMD3_ENST00000352409.3_Splice_Site|CSMD3_ENST00000343508.3_Splice_Site	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3							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						ACTGTAACACCTGGAAAACAA	0.388000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			21	32					1.00905e-13	1.38093e-13	1	1	0
MUC17	140453	broad.mit.edu	37	7	100678989	100678989	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:100678989C>A	ENST00000306151.4	+	3	4356	c.4292C>A	c.(4291-4293)gCt>gAt	p.A1431D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACCACTTCTGCTGAAGCCACT	0.488000													262	279					4.66897e-105	7.97075e-105	1	1	0
ASPDH	554235	broad.mit.edu	37	19	51017835	51017835	+	Translation_Start_Site	SNP	G	G	A	rs889131	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:51017835G>A	ENST00000376916.3	-	0	112				ASPDH_ENST00000597030.1_5'UTR	NM_001024656.2	NP_001019827.2	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing						NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding			endometrium(1)|large_intestine(1)|lung(1)	3						CCCAGCTCGCGTCAGCCCAGG	0.637000													5	59					0	0	1	0	0
ZNF41	7592	broad.mit.edu	37	X	47308730	47308730	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:47308730G>C	ENST00000377065.4	-	5	1078	c.439C>G	c.(439-441)Cgt>Ggt	p.R147G	ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Missense_Mutation_p.R157G|ZNF41_ENST00000313116.7_Missense_Mutation_p.R147G	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	189						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTTCCTGACGTTGCTCTAGC	0.343000													17	29					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7640235	7640235	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:7640235G>T	ENST00000359156.4	-	8	1972	c.1770C>A	c.(1768-1770)acC>acA	p.T590T	CD163_ENST00000541972.1_Silent_p.T578T|CD163_ENST00000432237.2_Silent_p.T590T|CD163_ENST00000396620.3_Silent_p.T623T	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	590	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTCACACGGGGTCTTGCCAT	0.512000													14	89					6.72482e-11	8.69306e-11	1	1	0
DENND5A	23258	broad.mit.edu	37	11	9163530	9163530	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:9163530C>G	ENST00000328194.3	-	22	3957	c.3637G>C	c.(3637-3639)Ggc>Cgc	p.G1213R	DENND5A_ENST00000527700.1_Missense_Mutation_p.G556R|DENND5A_ENST00000530044.1_Missense_Mutation_p.G1213R	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1213	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCATCCTTGCCGATGTTCCGG	0.527000													24	17					0	0	1	0	0
IGKV1-5	28299	broad.mit.edu	37	2	89247025	89247025	+	RNA	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:89247025G>T	ENST00000496168.1	-	0	325																											CTAATACTCTGACTGGCCCGG	0.517000													61	78					5.86059e-21	8.9443e-21	1	1	0
POU2F1	5451	broad.mit.edu	37	1	167358827	167358827	+	Silent	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:167358827A>T	ENST00000367862.5	+	9	1018	c.783A>T	c.(781-783)ccA>ccT	p.P261P	POU2F1_ENST00000452019.1_3'UTR|POU2F1_ENST00000420254.3_Silent_p.P249P|POU2F1_ENST00000541643.3_Silent_p.P249P|POU2F1_ENST00000429375.2_Silent_p.P209P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_Silent_p.P272P	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	249					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCAACAGCCAGCAACCCCAA	0.443000													15	13					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080279	5080279	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:5080279G>T	ENST00000321522.2	-	1	578	c.579C>A	c.(577-579)agC>agA	p.S193R		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGATTTTGATGCTGGCACAAG	0.393000													20	12					4.96729e-08	5.9587e-08	1	1	0
ACAD11	84129	broad.mit.edu	37	3	132347227	132347227	+	Translation_Start_Site	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:132347227T>C	ENST00000545291.1	-	0	1341				ACAD11_ENST00000481970.2_Missense_Mutation_p.I343V|ACAD11_ENST00000264990.6_Missense_Mutation_p.I343V|ACAD11_ENST00000355458.3_Missense_Mutation_p.I343V					acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GGTTGCACAATATTGGCAAAT	0.343000													24	21					0	0	1	0	0
PAK4	10298	broad.mit.edu	37	19	39665598	39665598	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:39665598G>A	ENST00000599386.1	+	5	848	c.667G>A	c.(667-669)Gag>Aag	p.E223K	PAK4_ENST00000599470.1_Missense_Mutation_p.E223K|PAK4_ENST00000435673.2_Missense_Mutation_p.E376K|PAK4_ENST00000360442.3_Missense_Mutation_p.E376K|PAK4_ENST00000358301.3_Missense_Mutation_p.E376K|PAK4_ENST00000321944.4_Missense_Mutation_p.E286K|PAK4_ENST00000593690.1_Missense_Mutation_p.E376K	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	376	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CTACCAGCACGAGAATGTGGT	0.637000													72	102					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76808016	76808016	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:76808016T>C	ENST00000286719.7	-	7	924	c.568A>G	c.(568-570)Ata>Gta	p.I190V		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	190	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTATAAAATATAAAGATTAAG	0.284000													11	12					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158606438	158606438	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:158606438G>T	ENST00000368148.3	-	37	5483	c.5303C>A	c.(5302-5304)gCc>gAc	p.A1768D	SPTA1_ENST00000368147.3_Missense_Mutation_p.A1768D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1768					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TACCTGGATGGCAGGCTCATG	0.478000													29	55					1.39806e-14	1.95694e-14	1	1	0
MAGEB18	286514	broad.mit.edu	37	X	26157882	26157882	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:26157882C>A	ENST00000325250.1	+	2	967	c.780C>A	c.(778-780)ccC>ccA	p.P260P		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	260	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCAAGTGCCCAACAGTGATC	0.483000													11	9					5.50884e-06	6.17032e-06	1	1	0
FAM131A	131408	broad.mit.edu	37	3	184062428	184062428	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:184062428G>T	ENST00000310585.4	+	3	2042	c.678G>T	c.(676-678)ctG>ctT	p.L226L	EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000340957.5_Silent_p.L172L|FAM131A_ENST00000383847.2_Silent_p.L257L|FAM131A_ENST00000450976.1_Silent_p.L172L|FAM131A_ENST00000453072.1_Silent_p.L172L|FAM131A_ENST00000418281.1_Silent_p.L134L			Q6UXB0	F131A_HUMAN	family with sequence similarity 131, member A	226						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1)	14	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCTCTAGTCTGTGCAGCCTGG	0.682000													79	60					4.38691e-48	7.33879e-48	1	1	0
RRP1B	23076	broad.mit.edu	37	21	45113215	45113215	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:45113215C>T	ENST00000340648.4	+	16	2345	c.2228C>T	c.(2227-2229)cCc>cTc	p.P743L		NM_015056.2	NP_055871.1	Q14684	RRP1B_HUMAN	ribosomal RNA processing 1B	743					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCCAAGAAGCCCCTGACCACC	0.577000													4	11					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28993288	28993288	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:28993288T>A	ENST00000359747.4	+	15	2939	c.2910T>A	c.(2908-2910)tgT>tgA	p.C970*	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Nonsense_Mutation_p.C951*	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	951					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAATATTTGTGTACCTGCTG	0.433000													43	14					0	0	1	0	0
MFSD6	54842	broad.mit.edu	37	2	191301723	191301723	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:191301723G>T	ENST00000392328.1	+	3	1292	c.968G>T	c.(967-969)cGc>cTc	p.R323L	MFSD6_ENST00000281416.7_Missense_Mutation_p.R323L	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	323					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CACAGAGATCGCTATGGGTTG	0.527000													64	60					5.82218e-30	9.31229e-30	1	1	0
LOC440040	440040	broad.mit.edu	37	11	49598333	49598333	+	RNA	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:49598333T>A	ENST00000527477.1	+	0	937																											ATCATGGATCTGAGTGACAAG	0.473000													8	14					0	0	1	0	0
HDAC6	10013	broad.mit.edu	37	X	48661318	48661318	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:48661318C>G	ENST00000334136.5	+	3	312	c.134C>G	c.(133-135)cCc>cGc	p.P45R	HDAC6_ENST00000376619.2_Missense_Mutation_p.P45R|HDAC6_ENST00000444343.2_Missense_Mutation_p.P59R|HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_5'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	45					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.P45H(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CGCTCTATCCCCAATCTAGCG	0.522000													16	16					0	0	1	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45524411	45524411	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:45524411C>T	ENST00000359600.5	-	4	1327	c.1122G>A	c.(1120-1122)atG>atA	p.M374I		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	374							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGAATCTCTCATCCGCAGCA	0.488000													15	39					0	0	1	0	0
RAB3C	115827	broad.mit.edu	37	5	57913567	57913567	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:57913567T>A	ENST00000282878.4	+	2	291	c.122T>A	c.(121-123)gTg>gAg	p.V41E		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	41					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		AATAGCAGTGTGGGGAAAACA	0.428000													14	12					0	0	1	0	0
PRND	23627	broad.mit.edu	37	20	4705434	4705434	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:4705434G>A	ENST00000305817.2	+	2	308	c.237G>A	c.(235-237)gaG>gaA	p.E79E		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	79	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						GGTACTACGAGGCCAACTACT	0.592000													15	22					0	0	1	0	0
BTAF1	9044	broad.mit.edu	37	10	93741445	93741445	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:93741445G>A	ENST00000265990.6	+	16	2109	c.1801G>A	c.(1801-1803)Gca>Aca	p.A601T	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	601					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GTATGTGGTAGCAGCTGCTTG	0.408000													38	10					0	0	1	0	0
OR2C3	81472	broad.mit.edu	37	1	247695460	247695460	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:247695460G>C	ENST00000366487.3	-	2	715	c.354C>G	c.(352-354)acC>acG	p.T118T	GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron	NM_198074.4	NP_932340.3	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CATAGGACATGGTGGCCAGCA	0.557000													18	23					0	0	1	0	0
SPATA6	54558	broad.mit.edu	37	1	48825358	48825358	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:48825358G>A	ENST00000371847.3	-	10	1158	c.994C>T	c.(994-996)Ccc>Tcc	p.P332S	SPATA6_ENST00000396199.3_Missense_Mutation_p.P260S|SPATA6_ENST00000371843.3_Missense_Mutation_p.P332S	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	332					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GAATGCCGGGGCTTACTACAC	0.453000													29	17					0	0	1	0	0
FAM168B	130074	broad.mit.edu	37	2	131840192	131840192	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:131840192A>G	ENST00000409185.1	-	2	135	c.28T>C	c.(28-30)Tct>Cct	p.S10P	FAM168B_ENST00000389915.3_Missense_Mutation_p.S10P	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	10										endometrium(3)|lung(2)	5						GGAACCCCAGAAGATCCAGGA	0.328000													6	8					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38299801	38299801	+	RNA	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:38299801G>A	ENST00000443402.2	-	0	408					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					GTAATATGCAGAGGTGTTTGT	0.423000													8	29					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10551906	10551906	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:10551906T>A	ENST00000583535.1	-	8	790	c.703A>T	c.(703-705)Aag>Tag	p.K235*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.K235*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	235	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTCACAGTCTTGGCGTTCCCA	0.463000													50	14					0	0	1	0	0
VMO1	284013	broad.mit.edu	37	17	4688711	4688711	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:4688711G>A	ENST00000328739.5	-	3	634	c.555C>T	c.(553-555)ggC>ggT	p.G185G	VMO1_ENST00000354194.4_3'UTR|VMO1_ENST00000416307.2_3'UTR|VMO1_ENST00000441199.2_3'UTR	NM_182566.2	NP_872372.1	Q7Z5L0	VMO1_HUMAN	vitelline membrane outer layer 1 homolog (chicken)	185					vitelline membrane formation	extracellular region				kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|pancreas(1)	11						CATCGCCGAGGCCTCTAGGTC	0.677000													4	35					0	0	1	0	0
LRRK2	120892	broad.mit.edu	37	12	40749980	40749980	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:40749980G>C	ENST00000298910.7	+	46	6892	c.6834G>C	c.(6832-6834)aaG>aaC	p.K2278N		NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2278					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTGAAGATAAGACTGTTAAGG	0.294000													3	3					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121981074	121981074	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:121981074G>A	ENST00000498619.1	+	4	1630	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	CASR_ENST00000296154.5_Missense_Mutation_p.D398N|CASR_ENST00000490131.1_Missense_Mutation_p.D398N	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	398					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTGTACAGGGGATGAGAACAT	0.493000													28	31					0	0	1	0	0
LARP4	113251	broad.mit.edu	37	12	50867319	50867319	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:50867319G>T	ENST00000398473.2	+	14	1779	c.1667_splice	c.e14+1	p.S556_splice	LARP4_ENST00000347328.5_Splice_Site_p.S485_splice|LARP4_ENST00000518444.1_Splice_Site_p.S555_splice|LARP4_ENST00000429001.3_Splice_Site_p.S562_splice|LARP4_ENST00000293618.8_Splice_Site_p.S485_splice	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	556							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACTGCATTAAGGTACAAGTTA	0.478000													14	31					3.27435e-08	3.95227e-08	1	1	0
PARPBP	55010	broad.mit.edu	37	12	102589775	102589775	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:102589775T>C	ENST00000378128.3	+	7	980	c.868T>C	c.(868-870)Tgg>Cgg	p.W290R	PARPBP_ENST00000535811.1_3'UTR|PARPBP_ENST00000541394.1_Silent_p.F559F|PARPBP_ENST00000543784.1_Missense_Mutation_p.W176R|PARPBP_ENST00000327680.2_Silent_p.F401F|PARPBP_ENST00000392911.2_Silent_p.F401F|PARPBP_ENST00000358383.5_Silent_p.F482F			Q9NWS1	PR1BP_HUMAN	PARP1 binding protein	0					response to DNA damage stimulus	cytoplasm|nucleus	DNA binding			endometrium(1)|lung(8)|urinary_tract(2)	11						GAACGAGTTTTGGAAATGTTC	0.338000													8	9					0	0	1	0	0
PSG9	5678	broad.mit.edu	37	19	43763010	43763010	+	Splice_Site	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:43763010G>A	ENST00000418820.2	-	3	806	c.709_splice	c.e3+1	p.L236_splice	PSG9_ENST00000596730.1_Intron|PSG9_ENST00000443718.3_Splice_Site_p.L236_splice|PSG9_ENST00000270077.3_Splice_Site_p.L329_splice|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000593948.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	236					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GATACTCACAGAGGACATTTA	0.502000													62	238					0	0	1	0	0
PEX10	5192	broad.mit.edu	37	1	2339978	2339978	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:2339978G>A	ENST00000288774.3	-	3	540	c.513C>T	c.(511-513)ctC>ctT	p.L171L	PEX10_ENST00000507596.1_Silent_p.L171L|PEX10_ENST00000447513.2_Silent_p.L171L	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	171					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		GGAGGCAGGCGAGGCCCTGTC	0.647000													32	26					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7639309	7639309	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:7639309C>A	ENST00000359156.4	-	10	2446	c.2244G>T	c.(2242-2244)tgG>tgT	p.W748C	CD163_ENST00000541972.1_Missense_Mutation_p.W736C|CD163_ENST00000432237.2_Missense_Mutation_p.W748C|CD163_ENST00000396620.3_Missense_Mutation_p.W781C	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	748	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CACTCAGGTCCCAGCTGTCAT	0.557000													67	90					1.41401e-22	2.18665e-22	1	1	0
TIAM1	7074	broad.mit.edu	37	21	32598174	32598174	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:32598174C>A	ENST00000286827.3	-	8	2148	c.1677G>T	c.(1675-1677)acG>acT	p.T559T	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.T559T	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	559					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGAGTCGGAGCGTGTCTTCCT	0.507000													11	48					3.86212e-05	4.24833e-05	1	1	0
EPHA3	2042	broad.mit.edu	37	3	89259557	89259557	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:89259557C>G	ENST00000336596.2	+	3	926	c.701C>G	c.(700-702)tCt>tGt	p.S234C	EPHA3_ENST00000452448.2_Missense_Mutation_p.S234C|EPHA3_ENST00000494014.1_Missense_Mutation_p.S234C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	234	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.S234Y(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTCAACAATTCTAAGGAGGAA	0.488000										TSP Lung(6;0.00050)			16	110					0	0	1	0	0
IFI44	10561	broad.mit.edu	37	1	79121118	79121118	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:79121118G>T	ENST00000370747.4	+	5	847	c.762G>T	c.(760-762)ggG>ggT	p.G254G	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	254					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						ACTCACTGGGGCTGAGTGAGA	0.413000													19	15					8.10497e-08	9.68279e-08	1	1	0
OR6K6	128371	broad.mit.edu	37	1	158725600	158725600	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:158725600T>A	ENST00000368144.2	+	1	1091	c.995T>A	c.(994-996)tTc>tAc	p.F332Y		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	332					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					GGAAGGCTTTTCCACTATCAG	0.413000													18	24					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12183739	12183739	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:12183739G>T	ENST00000256194.4	+	3	325	c.37G>T	c.(37-39)Ggg>Tgg	p.G13W	MICAL2_ENST00000527546.1_Missense_Mutation_p.G13W|MICAL2_ENST00000342902.5_Missense_Mutation_p.G13W|MICAL2_ENST00000379612.3_Missense_Mutation_p.G13W|MICAL2_ENST00000537344.1_Missense_Mutation_p.G13W	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	13						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GGCCCAGGCGGGGCAGGTTTT	0.572000													19	14					8.28177e-16	1.19364e-15	1	1	0
BCAN	63827	broad.mit.edu	37	1	156617352	156617352	+	Silent	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:156617352T>G	ENST00000329117.4	+	4	855	c.519T>G	c.(517-519)tcT>tcG	p.S173S	BCAN_ENST00000361588.5_Silent_p.S173S|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	173	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTCCTTTTCTGGGGCCCAGG	0.637000													38	28					0	0	1	0	0
GPR128	84873	broad.mit.edu	37	3	100378642	100378642	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:100378642C>T	ENST00000273352.3	+	14	2202	c.1934C>T	c.(1933-1935)aCa>aTa	p.T645I	GPR128_ENST00000475887.1_Missense_Mutation_p.T350I|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	645			T -> S (in dbSNP:rs16842529).		neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGTTTATTACAATCTCGATC	0.428000													5	57					0	0	1	0	0
GTPBP3	84705	broad.mit.edu	37	19	17452465	17452465	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:17452465G>T	ENST00000324894.8	+	9	1500	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*	GTPBP3_ENST00000600625.1_Nonsense_Mutation_p.E457*|GTPBP3_ENST00000361619.5_Nonsense_Mutation_p.E500*|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Nonsense_Mutation_p.E510*	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	478					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						AGGGGGTACCGAGGAGATCCT	0.657000													37	12					9.45814e-24	1.47831e-23	1	1	0
SPAG5	10615	broad.mit.edu	37	17	26906191	26906191	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:26906191T>A	ENST00000321765.5	-	19	3417	c.3085A>T	c.(3085-3087)Aag>Tag	p.K1029*		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	1029					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGGTTCAGCTTCTCTATGTCT	0.537000													29	21					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20150087	20150087	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:20150087C>A	ENST00000245957.5	+	13	1444	c.1368C>A	c.(1366-1368)caC>caA	p.H456Q	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.H456Q|C20orf26_ENST00000451767.2_Missense_Mutation_p.H456Q|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	456										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ACGTCTTCCACCGGGCTGGAT	0.493000													19	17					1.00905e-13	1.38093e-13	1	1	0
BACH2	60468	broad.mit.edu	37	6	90648045	90648045	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:90648045G>C	ENST00000257749.4	-	8	2568	c.1861C>G	c.(1861-1863)Caa>Gaa	p.Q621E	BACH2_ENST00000537989.1_Missense_Mutation_p.Q621E|BACH2_ENST00000343122.3_Missense_Mutation_p.Q621E	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	621						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCTGTGATTTGATCTACAGGA	0.383000													18	18					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25773877	25773877	+	Missense_Mutation	SNP	C	C	T	rs145440760	byFrequency	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:25773877C>T	ENST00000377905.4	+	8	1081	c.962C>T	c.(961-963)tCg>tTg	p.S321L	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Missense_Mutation_p.S91L	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	321					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TACATCAGCTCGGTACTTCAA	0.378000													7	26					0	0	1	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958505	143958505	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:143958505G>A	ENST00000292427.4	-	3	561	c.529C>T	c.(529-531)Ctg>Ttg	p.L177L	CYP11B1_ENST00000377675.3_Silent_p.L248L|CYP11B1_ENST00000517471.1_Silent_p.L177L	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	177					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCGTTCTGCAGCACCTTCTTC	0.612000									Familial Hyperaldosteronism type I				9	14					0	0	1	0	0
SIDT2	51092	broad.mit.edu	37	11	117052224	117052224	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:117052224C>A	ENST00000324225.4	+	2	807	c.276C>A	c.(274-276)tcC>tcA	p.S92S	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Silent_p.S92S	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	92						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		CTGTGGTGTCCTTCCAGGTGC	0.612000											OREG0021368	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	34	30					5.71845e-15	8.08208e-15	1	1	0
PAK1IP1	55003	broad.mit.edu	37	6	10707698	10707698	+	Nonsense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:10707698C>G	ENST00000379568.3	+	8	1082	c.791C>G	c.(790-792)tCa>tGa	p.S264*		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	264					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				GTTATTGTTTCAGCATCGAGT	0.348000													45	35					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141202178	141202178	+	Nonsense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:141202178A>T	ENST00000389484.3	-	64	11099	c.10128T>A	c.(10126-10128)tgT>tgA	p.C3376*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3376	LDL-receptor class A 22.				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)		TCTCTCCATCACAGATGAAAG	0.398000										TSP Lung(27;0.18)			16	18					0	0	1	0	0
KCTD7	154881	broad.mit.edu	37	7	66240221	66240221	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:66240221C>T	ENST00000380828.2	+	5	461	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	KCTD7_ENST00000510829.2_Missense_Mutation_p.R63W|RABGEF1_ENST00000439720.2_Missense_Mutation_p.R76W|KCTD7_ENST00000451741.2_Missense_Mutation_p.R63W|RABGEF1_ENST00000484547.2_3'UTR|RABGEF1_ENST00000284957.5_Missense_Mutation_p.R63W|RABGEF1_ENST00000450873.2_Missense_Mutation_p.R63W|RABGEF1_ENST00000437078.2_Missense_Mutation_p.R77W			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						CAGACTCCAGCGGGAGGAAGA	0.458000													26	11					0	0	1	0	0
KDR	3791	broad.mit.edu	37	4	55964390	55964390	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:55964390G>T	ENST00000263923.4	-	17	2718	c.2423C>A	c.(2422-2424)cCa>cAa	p.P808Q		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	808					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GAGTTCATCTGGATCCATGAC	0.473000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)			23	23					3.5997e-14	5.00268e-14	1	1	0
ITPRIP	85450	broad.mit.edu	37	10	106075809	106075809	+	Translation_Start_Site	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:106075809T>C	ENST00000278071.2	-	3	453	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ITPRIP_ENST00000358187.2_Start_Codon_SNP_p.M1V|ITPRIP_ENST00000337478.1_Start_Codon_SNP_p.M1V	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	1						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCCATGGCCATGGTTGGAGCT	0.627000													30	3					0	0	1	0	0
SCARF2	91179	broad.mit.edu	37	22	20785037	20785037	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:20785037T>G	ENST00000405555.3	-	5	1083	c.1013A>C	c.(1012-1014)cAt>cCt	p.H338P	SCARF2_ENST00000266214.5_Missense_Mutation_p.H338P	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	338					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTTACAGGCATGCCCGTCGCG	0.687000													14	34					0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13885089	13885089	+	Silent	SNP	G	G	T	rs138421793	byFrequency	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:13885089G>T	ENST00000327606.3	-	2	609	c.429C>A	c.(427-429)acC>acA	p.T143T		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	143					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGCGGCGCATGGTCACGATGC	0.572000													24	12					7.4402e-23	1.15363e-22	1	1	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89100615	89100615	+	RNA	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:89100615G>C	ENST00000393525.3	+	0	1089																											TGCTTCAACAGCAACTGGATG	0.373000													6	70					0	0	1	0	0
NCCRP1	342897	broad.mit.edu	37	19	39691014	39691014	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:39691014G>A	ENST00000339852.4	+	5	599	c.577G>A	c.(577-579)Gtc>Atc	p.V193I		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	193	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGATGCGTGCGTCTATGAGCT	0.672000													55	326					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53673605	53673605	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:53673605C>T	ENST00000257934.4	+	12	2545	c.2454C>T	c.(2452-2454)caC>caT	p.H818H	ESPL1_ENST00000552462.1_Silent_p.H818H	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	818					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCTCCTGCCACATCACCCAGC	0.627000													58	103					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247608058	247608058	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:247608058C>A	ENST00000366497.2	+	8	3555	c.2775C>A	c.(2773-2775)ggC>ggA	p.G925G	NLRP3_ENST00000391828.3_Silent_p.G982G|NLRP3_ENST00000336119.3_Silent_p.G982G|NLRP3_ENST00000366496.2_Silent_p.G925G|NLRP3_ENST00000391827.2_Silent_p.G925G|NLRP3_ENST00000348069.2_Silent_p.G868G	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	982					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.G982G(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ATGACCTGGGCGACCTGGGGG	0.582000													22	24					6.44725e-10	8.18008e-10	1	1	0
CLNK	116449	broad.mit.edu	37	4	10542196	10542196	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:10542196G>T	ENST00000226951.6	-	11	763	c.524C>A	c.(523-525)cCc>cAc	p.P175H	CLNK_ENST00000442825.2_Missense_Mutation_p.P133H|CLNK_ENST00000507719.1_Missense_Mutation_p.P133H	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	175	Pro-rich.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AGGGGGCAAGGGTTGGTACTT	0.537000													9	36					3.86212e-05	4.24833e-05	1	1	0
IGHV3-43	28426	broad.mit.edu	37	14	106926209	106926209	+	RNA	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:106926209G>T	ENST00000434710.1	-	0	412																											AGTAATACAAGGCGGTGTCCT	0.522000													155	23					8.63352e-77	1.46959e-76	1	1	0
PAPPA	5069	broad.mit.edu	37	9	118989708	118989708	+	Splice_Site	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:118989708A>G	ENST00000328252.3	+	6	2480		c.e6-1		PAPPA_ENST00000534838.1_Intron	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1						cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTGGCCTCCTAGAGAATTGGG	0.517000													53	13					0	0	1	0	0
MAU2	23383	broad.mit.edu	37	19	19453457	19453457	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:19453457G>A	ENST00000392313.5	+	8	895	c.849G>A	c.(847-849)ctG>ctA	p.L283L	MAU2_ENST00000262815.8_Silent_p.L283L|MAU2_ENST00000585823.2_3'UTR	NM_015329.3	NP_056144.3	Q9Y6X3	SCC4_HUMAN	MAU2 sister chromatid cohesion factor	283					cell division|maintenance of mitotic sister chromatid cohesion	chromatin|nucleoplasm|SMC loading complex	protein N-terminus binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	18						TCCACTGGCTGCCCAAGGAGC	0.652000											OREG0025380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	82	23					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152432764	152432764	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:152432764G>C	ENST00000397345.3	-	106	17011	c.16809C>G	c.(16807-16809)gaC>gaG	p.D5603E	NEB_ENST00000172853.10_Missense_Mutation_p.D3902E|NEB_ENST00000603639.1_Missense_Mutation_p.D5603E|NEB_ENST00000427231.2_Missense_Mutation_p.D5603E|NEB_ENST00000409198.1_Missense_Mutation_p.D3902E|NEB_ENST00000604864.1_Missense_Mutation_p.D5603E	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	5614					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATAGACACTGTCACAAAAGA	0.458000													33	28					0	0	1	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43919661	43919661	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:43919661T>A	ENST00000282406.4	+	4	305	c.195T>A	c.(193-195)gtT>gtA	p.V65V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	65						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGGTACAAGTTATGGAAGATA	0.289000													7	28					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8224571	8224571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:8224571G>T	ENST00000539824.1	+	10	1263	c.889G>T	c.(889-891)Gaa>Taa	p.E297*	SH3TC1_ENST00000245105.3_Nonsense_Mutation_p.E373*			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	373							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						TTCCAGGTTGGAAAGTGCGAT	0.423000													13	24					3.27435e-08	3.95227e-08	1	1	0
NFASC	23114	broad.mit.edu	37	1	204943866	204943866	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:204943866C>A	ENST00000367172.4	+	14	1801	c.1473C>A	c.(1471-1473)atC>atA	p.I491I	NFASC_ENST00000404907.1_Silent_p.I502I|NFASC_ENST00000338586.6_Silent_p.I491I|NFASC_ENST00000339876.6_Silent_p.I491I|NFASC_ENST00000404076.1_Silent_p.I485I|NFASC_ENST00000360049.4_Silent_p.I502I|NFASC_ENST00000513543.1_Silent_p.I502I|NFASC_ENST00000367170.4_Silent_p.I491I|NFASC_ENST00000338515.6_Silent_p.I491I|NFASC_ENST00000367169.4_Silent_p.I491I|NFASC_ENST00000401399.1_Silent_p.I491I|NFASC_ENST00000403080.1_Silent_p.I491I|NFASC_ENST00000367171.4_Silent_p.I491I|NFASC_ENST00000539706.1_Silent_p.I502I			O94856	NFASC_HUMAN	neurofascin	491	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTAAGATGATCCGCAAAGAGG	0.502000													34	67					4.4194e-11	5.73833e-11	1	1	0
MORF4L2	9643	broad.mit.edu	37	X	102931112	102931112	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:102931112C>A	ENST00000423833.2	-	3	2069	c.844G>T	c.(844-846)Gag>Tag	p.E282*	MORF4L2_ENST00000372620.1_Nonsense_Mutation_p.E164*|MORF4L2_ENST00000360458.1_Nonsense_Mutation_p.E282*|MORF4L2_ENST00000422154.2_Nonsense_Mutation_p.E282*|MORF4L2_ENST00000441076.2_Nonsense_Mutation_p.E282*|MORF4L2_ENST00000433176.2_Nonsense_Mutation_p.E282*|MORF4L2_ENST00000451301.1_Nonsense_Mutation_p.E282*			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	282					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CGGTGGTACTCAGCAGAAGCC	0.398000													65	15					7.75977e-34	1.26544e-33	1	1	0
ARMC5	79798	broad.mit.edu	37	16	31471167	31471167	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:31471167G>T	ENST00000457010.2	+	1	1023	c.322G>T	c.(322-324)Ggc>Tgc	p.G108C	ARMC5_ENST00000538189.1_Missense_Mutation_p.G140C|ARMC5_ENST00000268314.4_Missense_Mutation_p.G108C|ARMC5_ENST00000408912.3_Missense_Mutation_p.G203C|ARMC5_ENST00000563544.1_Missense_Mutation_p.G108C	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	108							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						ccccgcgtcgggccccgcccc	0.741000													12	7					5.16669e-11	6.69373e-11	1	1	0
USP35	57558	broad.mit.edu	37	11	77920933	77920933	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:77920933G>C	ENST00000529308.1	+	10	2293	c.2032G>C	c.(2032-2034)Gag>Cag	p.E678Q	USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.E246Q|USP35_ENST00000526425.1_Missense_Mutation_p.E409Q|USP35_ENST00000441408.2_Missense_Mutation_p.E264Q	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	678					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GGAAAGGATAgagagggagga	0.577000													4	12					0	0	1	0	0
DZIP3	9666	broad.mit.edu	37	3	108405387	108405387	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:108405387G>T	ENST00000361582.3	+	28	3335	c.3105G>T	c.(3103-3105)gaG>gaT	p.E1035D	DZIP3_ENST00000463306.1_Missense_Mutation_p.E1035D	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1035					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGAATTGGGAGAGAATTACAG	0.498000													51	78					1.81118e-26	2.88109e-26	1	1	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													3	26					0	0	1	0	0
COL6A2	1292	broad.mit.edu	37	21	47531438	47531438	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:47531438G>T	ENST00000300527.4	+	2	152	c.48G>T	c.(46-48)ggG>ggT	p.G16G	COL6A2_ENST00000357838.4_Silent_p.G16G|COL6A2_ENST00000310645.5_Silent_p.G16G|COL6A2_ENST00000397763.1_Silent_p.G16G|COL6A2_ENST00000409416.1_Silent_p.G16G	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	16					axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GAATCCTGGGGGCCATCCAGG	0.672000													8	39					0.00448238	0.00463338	1	1	0
FAT1	2195	broad.mit.edu	37	4	187554941	187554941	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:187554941C>A	ENST00000441802.2	-	7	4429	c.4220G>T	c.(4219-4221)gGa>gTa	p.G1407V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1407	Cadherin 12.				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						GGTTCCAGTTCCCTTGTCCAC	0.443000										HNSCC(5;0.00058)			11	9					3.86212e-05	4.24833e-05	1	1	0
SOX8	30812	broad.mit.edu	37	16	1032238	1032238	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:1032238A>G	ENST00000293894.3	+	1	431	c.316A>G	c.(316-318)Atg>Gtg	p.M106V		NM_014587.3	NP_055402.2	P57073	SOX8_HUMAN	SRY (sex determining region Y)-box 8	106					adipose tissue development|enteric nervous system development|fat cell differentiation|in utero embryonic development|metanephric nephron tubule formation|morphogenesis of a branching epithelium|negative regulation of apoptosis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|neural crest cell migration|oligodendrocyte differentiation|osteoblast differentiation|peripheral nervous system development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of gliogenesis|positive regulation of osteoblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone levels|renal vesicle induction|retinal rod cell differentiation|Sertoli cell development|signal transduction|spermatogenesis|ureter morphogenesis	cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|lung(5)|prostate(2)|skin(1)	10		Hepatocellular(780;0.00308)				GAAGCGGCCCATGAACGCATT	0.692000													6	5					0	0	1	0	0
CAD	790	broad.mit.edu	37	2	27458235	27458235	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:27458235G>A	ENST00000264705.4	+	24	4071	c.3909G>A	c.(3907-3909)atG>atA	p.M1303I	CAD_ENST00000403525.1_Missense_Mutation_p.M1240I	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1303	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCAAGGCCATGCTAAGCACTG	0.577000													37	55					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147301	154147301	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:154147301T>G	ENST00000389740.2	-	1	203	c.104A>C	c.(103-105)tAt>tCt	p.Y35S		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	35						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GCAAAAAAGATAGATATTCAG	0.393000													18	31					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23293864	23293864	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:23293864G>T	ENST00000258733.4	+	3	595	c.300G>T	c.(298-300)ctG>ctT	p.L100L	GPNMB_ENST00000453162.2_Silent_p.L100L|GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000381990.2_Silent_p.L100L|GPNMB_ENST00000409458.3_Silent_p.L100L			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	100					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGGTGAACCTGATATTCCCTA	0.478000													28	44					4.7796e-09	5.91615e-09	1	1	0
OR2T11	127077	broad.mit.edu	37	1	248790325	248790325	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:248790325G>T	ENST00000330803.2	-	1	166	c.105C>A	c.(103-105)gcC>gcA	p.A35A		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A35A(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGCAGTCACGGCCCCCAAGA	0.517000													30	50					2.65835e-16	3.86006e-16	1	1	0
PCDHGB1	56104	broad.mit.edu	37	5	140730252	140730252	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:140730252C>T	ENST00000523390.1	+	1	425	c.425C>T	c.(424-426)tCa>tTa	p.S142L	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTGTGAGTCAGCCTTACCC	0.408000													38	50					0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113820090	113820090	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:113820090C>G	ENST00000393200.2	+	5	465	c.304C>G	c.(304-306)Cgg>Ggg	p.R102G	IL36RN_ENST00000346807.3_Missense_Mutation_p.R102G	NM_012275.2	NP_036407.1	Q9UBH0	I36RA_HUMAN	interleukin 36 receptor antagonist	102						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.R102R(1)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CACCTTCTACCGGCGGGACAT	0.612000													26	51					0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96071927	96071927	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:96071927G>T	ENST00000395813.1	+	10	868	c.682G>T	c.(682-684)Gat>Tat	p.D228Y	CAST_ENST00000309190.5_Missense_Mutation_p.D123Y|CAST_ENST00000508830.1_Missense_Mutation_p.D228Y|CAST_ENST00000508608.1_Missense_Mutation_p.D191Y|CAST_ENST00000395812.2_Missense_Mutation_p.D187Y|CAST_ENST00000504465.1_Intron|CAST_ENST00000509903.1_Missense_Mutation_p.D123Y|CAST_ENST00000511782.1_Missense_Mutation_p.D131Y|CAST_ENST00000511049.1_Missense_Mutation_p.D131Y|CAST_ENST00000359176.4_Missense_Mutation_p.D209Y|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000341926.3_Missense_Mutation_p.D145Y|CAST_ENST00000510756.1_Missense_Mutation_p.D206Y|CAST_ENST00000338252.3_Missense_Mutation_p.D145Y|CAST_ENST00000325674.7_Missense_Mutation_p.D206Y			P20810	ICAL_HUMAN	calpastatin	145							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		ATCTAAACCGGATAAACCATC	0.363000													6	6					0.00307968	0.00319476	1	1	0
LCE4A	199834	broad.mit.edu	37	1	152681578	152681578	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:152681578G>T	ENST00000368777.1	+	2	283	c.27G>T	c.(25-27)caG>caT	p.Q9H	LCE4A_ENST00000335535.3_Missense_Mutation_p.Q9H			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	9	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)			ACCAACAGCAGTGCCAGCCCC	0.468000													214	107					5.33948e-98	9.10209e-98	1	1	0
BCKDHB	594	broad.mit.edu	37	6	80838892	80838892	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:80838892G>T	ENST00000545529.1	+	3	317	c.289G>T	c.(289-291)Gat>Tat	p.D97Y	BCKDHB_ENST00000320393.6_Missense_Mutation_p.D97Y|BCKDHB_ENST00000369760.4_Missense_Mutation_p.D97Y|BCKDHB_ENST00000486968.1_3'UTR|BCKDHB_ENST00000356489.5_Missense_Mutation_p.D97Y			P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	97					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTTGGTGAAGATGTTGCCTT	0.264000													23	20					1.10923e-09	1.39521e-09	1	1	0
MSI2	124540	broad.mit.edu	37	17	55752411	55752411	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:55752411G>T	ENST00000284073.2	+	12	1078	c.869G>T	c.(868-870)aGc>aTc	p.S290I	MSI2_ENST00000442934.2_Missense_Mutation_p.S229I|MSI2_ENST00000416426.2_Missense_Mutation_p.S286I|MSI2_ENST00000579505.1_3'UTR	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	290						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		GGCCCTGCCAGCCAGGACTCC	0.711000			T	HOXA9	CML								73	103					1.62403e-39	2.68981e-39	1	1	0
UPK1B	7348	broad.mit.edu	37	3	118917961	118917961	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:118917961T>G	ENST00000264234.3	+	7	855	c.706T>G	c.(706-708)Ttt>Gtt	p.F236V	UPK1B_ENST00000460625.1_Missense_Mutation_p.F228V|UPK1B_ENST00000497685.1_Missense_Mutation_p.F156V	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	236					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		GGTTGCCTGGTTTGGATTTGC	0.493000													3	27					0	0	1	0	0
DCAF8	50717	broad.mit.edu	37	1	160187465	160187465	+	Missense_Mutation	SNP	C	C	A	rs61741888		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:160187465C>A	ENST00000368073.3	-	14	2145	c.1711G>T	c.(1711-1713)Gcg>Tcg	p.A571S	DCAF8_ENST00000368074.1_Missense_Mutation_p.A571S|DCAF8_ENST00000326837.2_Missense_Mutation_p.A571S|DCAF8_ENST00000461888.1_5'UTR|DCAF8_ENST00000556710.1_Missense_Mutation_p.A725S			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	571						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCAGAGTCCGCGTCTGTGGCC	0.582000													27	29					9.86323e-18	1.45392e-17	1	1	0
MED12	9968	broad.mit.edu	37	X	70357794	70357794	+	Splice_Site	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:70357794G>T	ENST00000333646.6	+	41	6252		c.e41+1		MED12_ENST00000374102.1_Splice_Site|MED12_ENST00000374080.3_Splice_Site|MED12_ENST00000478889.1_Splice_Site	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12						androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCACTCAAAGGTACCCAAAGT	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						10	30					1.76689e-08	2.14604e-08	1	1	0
FAM47A	158724	broad.mit.edu	37	X	34149833	34149833	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:34149833C>A	ENST00000346193.3	-	1	614	c.563G>T	c.(562-564)tGc>tTc	p.C188F		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	188	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCTTCAGGCAGAATTCCCC	0.607000													36	16					9.65963e-10	1.21764e-09	1	1	0
OTOP3	347741	broad.mit.edu	37	17	72937897	72937897	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:72937897G>T	ENST00000328801.4	+	2	483	c.483G>T	c.(481-483)tgG>tgT	p.W161C		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	161						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GGCCCCTCTGGGTGCGGGGTG	0.682000													11	19					6.40141e-05	6.97574e-05	1	1	0
MFSD6	54842	broad.mit.edu	37	2	191302181	191302181	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:191302181A>G	ENST00000392328.1	+	3	1750	c.1426A>G	c.(1426-1428)Aat>Gat	p.N476D	MFSD6_ENST00000281416.7_Missense_Mutation_p.N476D	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	476					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						GGAAGACCTCAATGGAACTAC	0.463000													48	82					0	0	1	0	0
ITPRIPL1	150771	broad.mit.edu	37	2	96991515	96991515	+	Translation_Start_Site	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:96991515A>T	ENST00000439118.2	+	0	189				ITPRIPL1_ENST00000536814.1_Intron	NM_001008949.2	NP_001008949.1	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1							integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGACGAAGCAAGGCCAAGTTC	0.547000													9	10					0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145563039	145563039	+	Silent	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:145563039A>T	ENST00000355594.4	+	10	2814	c.2727A>T	c.(2725-2727)gcA>gcT	p.A909A		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	909										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAAAACGGCAGAGCTGCTGA	0.637000													24	87					0	0	1	0	0
TRAPPC9	83696	broad.mit.edu	37	8	141321447	141321447	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:141321447C>A	ENST00000389328.4	-	10	1830	c.1816G>T	c.(1816-1818)Gag>Tag	p.E606*	TRAPPC9_ENST00000438773.2_Nonsense_Mutation_p.E508*|TRAPPC9_ENST00000389327.3_Nonsense_Mutation_p.E499*	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	508					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						GTATAGTTCTCTAGGCTTTGG	0.502000													34	36					2.20474e-14	3.07871e-14	1	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84531692	84531692	+	RNA	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:84531692G>T	ENST00000527857.1	+	0	1714					NR_026851.1																						TCCTTGCCTAGTACCCAACCT	0.517000													28	7					1.39806e-14	1.95694e-14	1	1	0
KRTAP6-2	337967	broad.mit.edu	37	21	31971087	31971087	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:31971087G>A	ENST00000334897.3	-	1	132	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	36						intermediate filament				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GCCACAGCAGGAGCTATAGCC	0.572000													38	24					0	0	1	0	0
IGLC2	3538	broad.mit.edu	37	22	23243376	23243376	+	RNA	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:23243376G>A	ENST00000390323.2	+	0	221																											ATCTGAGCCTGACGCCTGAGC	0.582000													163	4					0	0	1	0	0
PCED1A	64773	broad.mit.edu	37	20	2816958	2816958	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:2816958G>A	ENST00000360652.2	-	7	1346	c.844C>T	c.(844-846)Ccg>Tcg	p.P282S	PCED1A_ENST00000356872.3_Missense_Mutation_p.P231S	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TCAATCCACGGGTCTAGGAAT	0.562000													21	39					0	0	1	0	0
SYP	6855	broad.mit.edu	37	X	49054278	49054278	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:49054278A>T	ENST00000263233.4	-	3	195	c.123T>A	c.(121-123)ttT>ttA	p.F41L	SYP_ENST00000538567.1_Intron|SYP_ENST00000479808.1_Missense_Mutation_p.F41L	NM_003179.2	NP_003170.1	P08247	SYPH_HUMAN	synaptophysin	41	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				CGCATGTGGCAAAGGCGAAGA	0.607000													19	15					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167016242	167016242	+	Nonsense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:167016242A>T	ENST00000392766.2	-	18	2070	c.1730T>A	c.(1729-1731)tTa>tAa	p.L577*	ZBBX_ENST00000455345.2_Nonsense_Mutation_p.L577*|ZBBX_ENST00000307529.5_Nonsense_Mutation_p.L577*|ZBBX_ENST00000392764.1_Nonsense_Mutation_p.L548*|ZBBX_ENST00000392767.2_Nonsense_Mutation_p.L577*	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	577						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TATTTCTTGTAACAACTAAGA	0.284000													14	19					0	0	1	0	0
FASLG	356	broad.mit.edu	37	1	172628547	172628547	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:172628547C>G	ENST00000367721.2	+	1	390	c.206C>G	c.(205-207)cCa>cGa	p.P69R	FASLG_ENST00000340030.3_Missense_Mutation_p.P69R	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	69	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						ctaccgctgccaccCCTGAAG	0.617000													17	18					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89392875	89392875	+	RNA	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:89392875C>G	ENST00000532352.1	+	0	698							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCTCTCACACCAGGTTACCCA	0.443000													14	28					0	0	1	0	0
PAX7	5081	broad.mit.edu	37	1	19018254	19018254	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:19018254G>C	ENST00000420770.2	+	5	676	c.593G>C	c.(592-594)cGg>cCg	p.R198P	PAX7_ENST00000375375.3_Missense_Mutation_p.R198P|PAX7_ENST00000400661.3_Missense_Mutation_p.R196P	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	198					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		GTAGGGAACCGGCTGGACGAG	0.652000			T	FOXO1A	alveolar rhabdomyosarcoma								3	9					0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81593202	81593202	+	Silent	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:81593202T>C	ENST00000548058.1	+	9	2243	c.1333T>C	c.(1333-1335)Tta>Cta	p.L445L	ACSS3_ENST00000548324.1_Silent_p.L127L|ACSS3_ENST00000261206.3_Silent_p.L444L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	445						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AGTACCTGTCTTAGACCATTG	0.398000													9	20					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145626918	145626918	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:145626918G>A	ENST00000349769.3	-	4	306	c.212C>T	c.(211-213)tCc>tTc	p.S71F		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	71					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GAAGGAGAAGGAGGCAGCAAG	0.642000													20	17					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6196845	6196845	+	Silent	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:6196845G>A	ENST00000262450.3	-	16	2616	c.2517C>T	c.(2515-2517)atC>atT	p.I839I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	839	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGGCCCACTCGATGGAGCCCA	0.592000													22	22					0	0	1	0	0
ABCG2	9429	broad.mit.edu	37	4	89060976	89060976	+	Missense_Mutation	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:89060976G>C	ENST00000237612.3	-	2	717	c.172C>G	c.(172-174)Cca>Gca	p.P58A	ABCG2_ENST00000515655.1_Missense_Mutation_p.P58A	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	58	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	TTCTCAACTGGTTTTCGACAA	0.358000													11	12					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167033537	167033537	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:167033537C>A	ENST00000392766.2	-	15	1615		c.e15+1		ZBBX_ENST00000455345.2_Splice_Site|ZBBX_ENST00000307529.5_Splice_Site|ZBBX_ENST00000392764.1_Splice_Site|ZBBX_ENST00000392767.2_Splice_Site	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing							intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAAGGTTTTACCTTCGTTGAC	0.323000													6	11					1.06961e-07	1.27262e-07	1	1	0
GDAP2	54834	broad.mit.edu	37	1	118449205	118449205	+	Splice_Site	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:118449205C>G	ENST00000369443.4	-	6	809		c.e6-1		GDAP2_ENST00000369442.3_Splice_Site	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2											kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		CTTACAGTGCCTAAGGAAAAG	0.303000													25	25					0	0	1	0	0
SPEG	10290	broad.mit.edu	37	2	220344771	220344771	+	Nonsense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:220344771G>T	ENST00000312358.7	+	25	5383	c.5251G>T	c.(5251-5253)Gga>Tga	p.G1751*	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1751	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCTGACTCCAGGAGAGCCCCA	0.577000													28	81					3.73808e-20	5.64586e-20	1	1	0
TSPYL2	64061	broad.mit.edu	37	X	53114002	53114002	+	Nonsense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:53114002C>A	ENST00000375442.4	+	3	1083	c.951C>A	c.(949-951)taC>taA	p.Y317*		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	317					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						CTAACCCCTACTTCACAAACA	0.502000													15	41					0.000308642	0.000328055	1	1	0
CLEC4G	339390	broad.mit.edu	37	19	7795276	7795276	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:7795276C>T	ENST00000328853.5	-	6	507	c.439G>A	c.(439-441)Gag>Aag	p.E147K		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	147						integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CGGAACAGCTCAGTGCGGACG	0.697000													38	8					0	0	1	0	0
PTK2	5747	broad.mit.edu	37	8	141669763	141669763	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:141669763C>T	ENST00000522684.1	-	32	3190	c.2961G>A	c.(2959-2961)caG>caA	p.Q987Q	PTK2_ENST00000535192.1_Silent_p.Q941Q|PTK2_ENST00000340930.3_Silent_p.Q1000Q|PTK2_ENST00000517887.1_Silent_p.Q1031Q|PTK2_ENST00000522950.1_3'UTR|PTK2_ENST00000521059.1_Silent_p.Q987Q|PTK2_ENST00000519465.1_Silent_p.Q615Q|PTK2_ENST00000430260.2_Silent_p.Q297Q|PTK2_ENST00000519419.1_Silent_p.Q1031Q|PTK2_ENST00000538769.1_Silent_p.Q655Q|PTK2_ENST00000517712.1_Silent_p.Q50Q|PTK2_ENST00000395218.2_Silent_p.Q1000Q	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	987	Interaction with RGNEF (By similarity).|Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TCAATAGCTTCTGTGCCATCT	0.413000													25	25					0	0	1	0	0
MED23	9439	broad.mit.edu	37	6	131917232	131917232	+	Silent	SNP	G	G	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:131917232G>C	ENST00000403834.3	-	22	3041	c.2868C>G	c.(2866-2868)ccC>ccG	p.P956P	MED23_ENST00000368068.3_Silent_p.P950P|MED23_ENST00000368060.3_Silent_p.P950P|MED23_ENST00000545957.1_Silent_p.P591P|MED23_ENST00000368058.1_Silent_p.P956P|MED23_ENST00000354577.4_Silent_p.P956P|MED23_ENST00000479213.1_5'UTR			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	950					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TGGGCAGATAGGGAGACTGGA	0.418000													11	40					0	0	1	0	0
DUSP10	11221	broad.mit.edu	37	1	221912518	221912518	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:221912518C>A	ENST00000366899.3	-	2	807	c.569G>T	c.(568-570)gGa>gTa	p.G190V	DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	190	Rhodanese.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTGGACAGCTCCTTGGATGTG	0.522000													32	37					5.91797e-21	9.00829e-21	1	1	0
IGHA1	3493	broad.mit.edu	37	14	106174386	106174386	+	RNA	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr14:106174386C>G	ENST00000390547.2	-	0	402																											AGCAGGTCCTCGAGGGCCGGT	0.607000													3	11					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38980307	38980307	+	Silent	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:38980307G>T	ENST00000359357.3	+	89	13211	c.12957G>T	c.(12955-12957)ctG>ctT	p.L4319L	DNAH8_ENST00000441566.1_Silent_p.L4283L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CGTCCACACTGGGCTTCTGGT	0.423000													57	36					6.4308e-24	1.00784e-23	1	1	0
OR2L13	284521	broad.mit.edu	37	1	248263168	248263168	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:248263168A>T	ENST00000366478.2	+	3	828	c.491A>T	c.(490-492)cAt>cTt	p.H164L	OR2L13_ENST00000358120.2_Missense_Mutation_p.H164L	NM_175911.2	NP_787107.1	Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TTTGCCCTTCATATTCCCTAC	0.463000													61	93					0	0	1	0	0
C10orf91	170393	broad.mit.edu	37	10	134261292	134261292	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:134261292C>A	ENST00000392630.3	+	3	226	c.165C>A	c.(163-165)ttC>ttA	p.F55L	C10orf91_ENST00000321248.2_Missense_Mutation_p.F55L|C10orf91_ENST00000490765.1_3'UTR	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	55										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		GCTTCCTGTTCACAGAGAAAC	0.547000													48	170					1.23713e-20	1.8758e-20	1	1	0
ITGA2B	3674	broad.mit.edu	37	17	42452091	42452091	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:42452091C>A	ENST00000262407.5	-	28	2910	c.2879G>T	c.(2878-2880)tGg>tTg	p.W960L	ITGA2B_ENST00000353281.4_Intron	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	960					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CACGTTGAACCATGCGTGCGA	0.612000													16	35					8.00594e-06	8.95007e-06	1	1	0
NTRK3	4916	broad.mit.edu	37	15	88420224	88420224	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr15:88420224T>C	ENST00000394480.1	-	19	2741	c.2420A>G	c.(2419-2421)tAc>tGc	p.Y807C	NTRK3_ENST00000360948.2_Missense_Mutation_p.Y821C|NTRK3_ENST00000357724.2_Missense_Mutation_p.Y813C|NTRK3_ENST00000355254.2_Missense_Mutation_p.Y807C|NTRK3_ENST00000557856.1_Missense_Mutation_p.Y799C	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	821	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GAGGATTTTGTAGATCTCCTT	0.542000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			6	41					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65390484	65390484	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:65390484C>A	ENST00000519389.1	+	2	413	c.234C>A	c.(232-234)gcC>gcA	p.A78A	HEPH_ENST00000343002.2_Silent_p.A24A|HEPH_ENST00000419594.1_Silent_p.A27A|HEPH_ENST00000441993.2_Silent_p.A27A|HEPH_ENST00000374727.3_Silent_p.A27A|HEPH_ENST00000336279.5_Intron			Q9BQS7	HEPH_HUMAN	hephaestin	24	Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CTGATGGAGCCACTCGAGTCT	0.547000													8	11					0.00448238	0.00463338	1	1	0
FREM1	158326	broad.mit.edu	37	9	14746990	14746990	+	Silent	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:14746990A>G	ENST00000380881.4	-	35	6887	c.6072T>C	c.(6070-6072)ttT>ttC	p.F2024F	FREM1_ENST00000380894.1_Silent_p.F559F|FREM1_ENST00000380880.3_Silent_p.F2023F|FREM1_ENST00000422223.2_Silent_p.F2023F			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2023					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCCTTCTTCAAAATGGAAGA	0.478000													11	2					0	0	1	0	0
TAF4	6874	broad.mit.edu	37	20	60551361	60551361	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:60551361T>G	ENST00000252996.3	-	15	3120	c.3121A>C	c.(3121-3123)Agc>Cgc	p.S1041R		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	1041					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ACACCCGAGCTGCCTGGGACC	0.547000													20	64					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930935	42930935	+	Missense_Mutation	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:42930935A>G	ENST00000244289.4	-	1	643	c.367T>C	c.(367-369)Tct>Cct	p.S123P	LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	123					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGAGTTATAGATTCTTTTCCT	0.552000													15	257					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35793303	35793303	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:35793303G>T	ENST00000440995.2	+	32	4582	c.4582G>T	c.(4582-4584)Gtg>Ttg	p.V1528L	SPEF2_ENST00000303129.4_Missense_Mutation_p.V330L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.V1533L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1533					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCGAGTTCGTGGACTGGCG	0.423000													25	25					1.33986e-20	2.02893e-20	1	1	0
CSDE1	7812	broad.mit.edu	37	1	115261262	115261262	+	Missense_Mutation	SNP	C	C	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:115261262C>G	ENST00000438362.2	-	19	2837	c.2459G>C	c.(2458-2460)cGt>cCt	p.R820P	CSDE1_ENST00000339438.6_Missense_Mutation_p.R743P|CSDE1_ENST00000369530.1_Missense_Mutation_p.R789P|CSDE1_ENST00000261443.5_Missense_Mutation_p.R743P|CSDE1_ENST00000530886.1_Missense_Mutation_p.R644P|CSDE1_ENST00000358528.4_Missense_Mutation_p.R774P|CSDE1_ENST00000534699.1_Missense_Mutation_p.R774P|CSDE1_ENST00000483407.1_5'UTR	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	774					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTTGGCTGACGAAGAACCAT	0.498000													3	21					0	0	1	0	0
RNF41	10193	broad.mit.edu	37	12	56604190	56604190	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:56604190T>C	ENST00000345093.4	-	4	622	c.253A>G	c.(253-255)Aac>Gac	p.N85D	RNF41_ENST00000394013.2_Missense_Mutation_p.N14D|RNF41_ENST00000552244.1_Missense_Mutation_p.N85D|RNF41_ENST00000552656.1_Missense_Mutation_p.N85D	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41	85					apoptosis|induction of apoptosis|protein polyubiquitination|regulation of reactive oxygen species metabolic process		protein binding|protein tag|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						AACACAGCGTTGTCACAGGCA	0.567000													21	23					0	0	1	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748699	96748699	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:96748699G>T	ENST00000260682.6	+	9	1399	c.1387G>T	c.(1387-1389)Gac>Tac	p.D463Y		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	463					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	ATCTCTGGTTGACCCAAAGAA	0.483000													69	17					4.92004e-51	8.27817e-51	1	1	0
FLNA	2316	broad.mit.edu	37	X	153595008	153595008	+	Splice_Site	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:153595008C>A	ENST00000422373.1	-	7	1236		c.e7-1		FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site|FLNA_ENST00000344736.4_Splice_Site	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCACTTTTGCCTGCAGTGGGA	0.627000													48	19					3.21987e-24	5.0598e-24	1	1	0
USP20	10868	broad.mit.edu	37	9	132623839	132623839	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:132623839A>T	ENST00000315480.4	+	8	603	c.445A>T	c.(445-447)Aac>Tac	p.N149Y	USP20_ENST00000358355.1_Missense_Mutation_p.N149Y|USP20_ENST00000372429.3_Missense_Mutation_p.N149Y			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	149					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGCATGAAGAACCTCGGGAA	0.587000													27	7					0	0	1	0	0
USP31	57478	broad.mit.edu	37	16	23085047	23085047	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:23085047C>A	ENST00000219689.7	-	14	2330	c.2331G>T	c.(2329-2331)gtG>gtT	p.V777V		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	777	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		CCTCACCTGCCACCGAGCTGT	0.527000													14	13					0.00244969	0.00255259	1	1	0
RHOD	29984	broad.mit.edu	37	11	66834276	66834276	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:66834276C>T	ENST00000308831.2	+	3	373	c.288C>T	c.(286-288)ttC>ttT	p.F96F	RHOD_ENST00000532559.1_Intron|RHOD_ENST00000533360.1_Silent_p.F96F	NM_014578.3	NP_055393.1	O00212	RHOD_HUMAN	ras homolog family member D	96					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TGCTTTGCTTCGATGTCACCA	0.607000													99	57					0	0	1	0	0
YPEL4	219539	broad.mit.edu	37	11	57413492	57413492	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:57413492C>T	ENST00000524669.1	-	5	3068	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000300022.3_Missense_Mutation_p.E116K|YPEL4_ENST00000534711.1_Missense_Mutation_p.E116K|YPEL4_ENST00000544993.1_Missense_Mutation_p.E116K			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	116						nucleolus				lung(2)|skin(1)	3						TGTGACATTTCAATGATGTAT	0.552000													13	30					0	0	1	0	0
TOB1	10140	broad.mit.edu	37	17	48941273	48941273	+	Missense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:48941273G>A	ENST00000499247.2	-	2	539	c.106C>T	c.(106-108)Ctt>Ttt	p.L36F	TOB1_ENST00000268957.3_Missense_Mutation_p.L36F|TOB1_ENST00000509385.1_5'UTR	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	36					negative regulation of cell proliferation		SH3/SH2 adaptor activity	p.R22fs*5(1)		breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TTCTTCTTAAGAAGTCTTTCA	0.383000													12	73					0	0	1	0	0
IFNAR2	3455	broad.mit.edu	37	21	34625108	34625108	+	Missense_Mutation	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr21:34625108A>T	ENST00000404220.3	+	7	1011	c.682A>T	c.(682-684)Acc>Tcc	p.T228S	AP000295.9_ENST00000433395.2_Silent_p.A135A|IFNAR2_ENST00000382264.3_Missense_Mutation_p.T228S|IFNAR2_ENST00000342101.3_Missense_Mutation_p.T228S|IFNAR2_ENST00000382241.3_Missense_Mutation_p.T228S|IFNAR2_ENST00000342136.4_Missense_Mutation_p.T228S|IFNAR2_ENST00000413881.1_Missense_Mutation_p.T156S			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	228					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CTTAAAATGCACCCTCCTTCC	0.363000													15	16					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176526309	176526309	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:176526309G>T	ENST00000367662.3	+	2	2015	c.851G>T	c.(850-852)cGg>cTg	p.R284L	PAPPA2_ENST00000367661.3_Missense_Mutation_p.R284L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	284					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GAGATTCCCCGGGAGGCGTTC	0.572000													21	14					4.96729e-08	5.9587e-08	1	1	0
SBF2	81846	broad.mit.edu	37	11	9802008	9802008	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:9802008T>C	ENST00000256190.8	-	40	5644	c.5507A>G	c.(5506-5508)cAg>cGg	p.Q1836R	SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000527406.1_RNA|SBF2-AS1_ENST00000534671.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1836	PH.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CATCCATTGCTGGGCACTCTG	0.498000													19	11					0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122853973	122853973	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:122853973C>A	ENST00000264811.5	-	1	639	c.221G>T	c.(220-222)gGc>gTc	p.G74V	TRPC3_ENST00000513531.1_Missense_Mutation_p.G74V|TRPC3_ENST00000379645.3_Missense_Mutation_p.G147V	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	62					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CGCGTTCTGGCCCATGTAGTC	0.637000													18	35					1.99824e-07	2.36303e-07	1	1	0
SMARCA4	6597	broad.mit.edu	37	19	11121055	11121055	+	Splice_Site	SNP	A	A	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:11121055A>G	ENST00000358026.2	+	15	2407		c.e15-1		SMARCA4_ENST00000344626.4_Splice_Site|SMARCA4_ENST00000413806.3_Splice_Site|SMARCA4_ENST00000450717.3_Splice_Site|SMARCA4_ENST00000444061.3_Splice_Site|SMARCA4_ENST00000429416.3_Splice_Site|SMARCA4_ENST00000541122.2_Splice_Site|SMARCA4_ENST00000590574.1_Splice_Site|SMARCA4_ENST00000589677.1_Splice_Site	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4						chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCTCACTCCCAGGAATGCCAA	0.557000			"""F, N, Mis"""		NSCLC								49	18					0	0	1	0	0
FAM71B	153745	broad.mit.edu	37	5	156589981	156589981	+	Missense_Mutation	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:156589981C>A	ENST00000302938.4	-	2	1390	c.1295G>T	c.(1294-1296)aGa>aTa	p.R432I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	432						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCTTTTCTCTTCTTTCCTT	0.493000													52	40					5.2118e-15	7.37495e-15	1	1	0
S1PR4	8698	broad.mit.edu	37	19	3179349	3179349	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:3179349C>T	ENST00000246115.3	+	1	614	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	S1PR4_ENST00000591346.1_3'UTR	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	187					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CTGGAACTGCCTGTGCGCCTT	0.652000													161	32					0	0	1	0	0
OR8U1	219417	broad.mit.edu	37	11	56143200	56143200	+	Missense_Mutation	SNP	T	T	G			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:56143200T>G	ENST00000302270.1	+	1	101	c.101T>G	c.(100-102)aTc>aGc	p.I34S		NM_001005204.1	NP_001005204.1			olfactory receptor, family 8, subfamily U, member 1											NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1)	39	Esophageal squamous(21;0.00448)					TTCTTATCCATCTACCTCTTC	0.458000													15	35					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2716162	2716162	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:2716162C>T	ENST00000399655.1	+	26	3487	c.3222C>T	c.(3220-3222)atC>atT	p.I1074I	CACNA1C_ENST00000399629.1_Silent_p.I1074I|CACNA1C_ENST00000347598.4_Silent_p.I1094I|CACNA1C_ENST00000399591.1_Silent_p.I1074I|CACNA1C_ENST00000344100.3_Silent_p.I1074I|CACNA1C_ENST00000399649.1_Silent_p.I1074I|CACNA1C_ENST00000399606.1_Silent_p.I1094I|CACNA1C_ENST00000327702.7_Silent_p.I1074I|CACNA1C_ENST00000399637.1_Silent_p.I1074I|CACNA1C_ENST00000480911.1_Silent_p.I1074I|CACNA1C-AS3_ENST00000543559.1_RNA|CACNA1C_ENST00000399603.1_Silent_p.I1074I|CACNA1C_ENST00000335762.5_Silent_p.I1099I|CACNA1C_ENST00000399634.1_Silent_p.I1074I|CACNA1C_ENST00000399621.1_Silent_p.I1074I|CACNA1C_ENST00000399601.1_Silent_p.I1074I|CACNA1C_ENST00000399595.1_Silent_p.I1074I|CACNA1C_ENST00000399638.1_Silent_p.I1074I|CACNA1C_ENST00000402845.3_Silent_p.I1074I|CACNA1C_ENST00000399617.1_Silent_p.I1074I|CACNA1C_ENST00000406454.3_Silent_p.I1074I|CACNA1C_ENST00000399644.1_Silent_p.I1074I|CACNA1C_ENST00000399597.1_Silent_p.I1074I|CACNA1C_ENST00000399641.1_Silent_p.I1074I	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1094					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GCAACTACATCACGTACAAAG	0.552000													19	7					0	0	1	0	0
SFI1	9814	broad.mit.edu	37	22	32009153	32009153	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:32009153G>T	ENST00000432498.1	+	24	2816	c.2423G>T	c.(2422-2424)cGg>cTg	p.R808L	SFI1_ENST00000443326.1_Missense_Mutation_p.R757L|SFI1_ENST00000443011.1_Missense_Mutation_p.R686L|SFI1_ENST00000414585.1_Missense_Mutation_p.R686L|SFI1_ENST00000400288.2_Missense_Mutation_p.R839L|SFI1_ENST00000400289.1_Missense_Mutation_p.R757L|SFI1_ENST00000540643.1_Missense_Mutation_p.R784L	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	839					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CAGGAGCAGCGGGCGACAGTG	0.632000													14	22					4.7546e-09	5.89773e-09	1	1	0
PEG3	5178	broad.mit.edu	37	19	57328689	57328689	+	Missense_Mutation	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:57328689C>T	ENST00000326441.9	-	10	1484	c.1121G>A	c.(1120-1122)gGc>gAc	p.G374D	PEG3_ENST00000423103.2_Missense_Mutation_p.G374D|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.G248D|PEG3_ENST00000598410.1_Missense_Mutation_p.G250D|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000593711.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	374					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAACCTAAAGCCTCCCCTAAA	0.438000													35	7					0	0	1	0	0
LINC00303	284573	broad.mit.edu	37	1	204006458	204006458	+	RNA	SNP	A	A	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:204006458A>T	ENST00000367207.3	-	0	562																											TGGGCAAAGGAGTGACCTCAG	0.527000													8	9					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361229	105361229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:105361229G>A	ENST00000297581.2	+	2	498	c.449G>A	c.(448-450)tGg>tAg	p.W150*	DCSTAMP_ENST00000517991.1_Nonsense_Mutation_p.W150*|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	150					osteoclast differentiation	cell surface|integral to membrane|plasma membrane		p.W150L(1)									GCAATTCAGTGGATTTATGGC	0.423000													38	38					0	0	1	0	0
OR2G2	81470	broad.mit.edu	37	1	247752074	247752074	+	Nonsense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:247752074T>A	ENST00000320065.1	+	1	413	c.413T>A	c.(412-414)tTa>tAa	p.L138*	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TACACTGTCTTAATGCATATC	0.567000													79	137					0	0	1	0	0
TMEM209	84928	broad.mit.edu	37	7	129841876	129841876	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:129841876T>A	ENST00000397622.2	-	5	509	c.387A>T	c.(385-387)ccA>ccT	p.P129P	TMEM209_ENST00000336804.8_Silent_p.P128P|TMEM209_ENST00000462753.1_Silent_p.P128P|RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000473456.1_Silent_p.P129P	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	129						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AAGGGGAAGGTGGAGCGGGAG	0.473000													28	10					0	0	1	0	0
MYCN	4613	broad.mit.edu	37	2	16082270	16082270	+	Silent	SNP	C	C	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:16082270C>T	ENST00000281043.3	+	2	381	c.84C>T	c.(82-84)ttC>ttT	p.F28F	MYCNOS_ENST00000448719.1_RNA	NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	28					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			AGCCCTGCTTCTACCCGGACG	0.647000			A		neuroblastoma								30	32					0	0	1	0	0
LLGL2	3993	broad.mit.edu	37	17	73566135	73566135	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:73566135G>T	ENST00000392550.3	+	15	1790	c.1673G>T	c.(1672-1674)tGg>tTg	p.W558L	LLGL2_ENST00000167462.5_Missense_Mutation_p.W558L|LLGL2_ENST00000577200.1_Missense_Mutation_p.W558L	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	558					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GGCTACCGCTGGAAGGGGCAC	0.672000													18	33					5.01169e-05	5.49214e-05	1	1	0
TNN	63923	broad.mit.edu	37	1	175106008	175106008	+	Missense_Mutation	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:175106008T>A	ENST00000239462.4	+	17	3592	c.3479T>A	c.(3478-3480)gTg>gAg	p.V1160E		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1160	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CGGTATGAGGTGAGAGTGGAT	0.453000													7	25					0	0	1	0	0
CPXM1	56265	broad.mit.edu	37	20	2778929	2778929	+	Silent	SNP	C	C	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr20:2778929C>A	ENST00000380605.2	-	4	523	c.459G>T	c.(457-459)ctG>ctT	p.L153L		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	153	F5/8 type C.				cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CGCCGTCCTCCAGGCCTGACT	0.637000													7	31					0.00307968	0.00319476	1	1	0
MYOD1	4654	broad.mit.edu	37	11	17741535	17741535	+	Missense_Mutation	SNP	T	T	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:17741535T>C	ENST00000250003.3	+	1	421	c.206T>C	c.(205-207)gTg>gCg	p.V69A		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	69					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCCGCGGCGGTGCACCCGGCC	0.721000													15	27					0	0	1	0	0
DYNC1LI1	51143	broad.mit.edu	37	3	32571791	32571791	+	Silent	SNP	T	T	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:32571791T>A	ENST00000273130.4	-	10	1273	c.1170A>T	c.(1168-1170)gcA>gcT	p.A390A	DYNC1LI1_ENST00000432458.2_Silent_p.A274A	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	390					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GCCTTCCAGCTGCAGTTGGTG	0.274000													3	0					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38956759	38956759	+	Missense_Mutation	SNP	G	G	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:38956759G>T	ENST00000355481.4	+	24	3030	c.2899G>T	c.(2899-2901)Gct>Tct	p.A967S	RYR1_ENST00000359596.3_Missense_Mutation_p.A967S|RYR1_ENST00000360985.3_Missense_Mutation_p.A967S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	967	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTACAAGCCGGCTCCGCTGGA	0.632000													41	6					1.69901e-12	2.26147e-12	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7724208	7724208	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:7724208delC	ENST00000303635.7	+	9	1808	c.1601delC	c.(1600-1602)acfs	p.T534fs	CAMTA1_ENST00000439411.2_Frame_Shift_Del_p.T534fs	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GAGATCAAGACCGAGGACACC	0.647			T	WWTR1	epitheliod hemangioendothelioma								35	84	---	---	---	---					
OR6K6	128371	broad.mit.edu	37	1	158724987	158724988	+	Frame_Shift_Ins	INS	-	-	A	rs74122455	byFrequency	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:158724987_158724988insA	ENST00000368144.2	+	1	478_479	c.382_383insA	c.(382-384)gatfs	p.D128fs		NM_001005184.1	NP_001005184.1	Q8NGW6	OR6K6_HUMAN	olfactory receptor, family 6, subfamily K, member 6	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(17)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0378)					CTGCCTCCTGCAGATGTACTTT	0.505													41	27	---	---	---	---					
LMX1A	4009	broad.mit.edu	37	1	165182890	165182891	+	Frame_Shift_Ins	INS	-	-	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr1:165182890_165182891insT	ENST00000342310.3	-	5	1038_1039	c.656_657insA	c.(655-657)accfs	p.T219fs	LMX1A_ENST00000367893.4_Frame_Shift_Ins_p.T219fs|LMX1A_ENST00000294816.2_Frame_Shift_Ins_p.T219fs	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	219						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TCCTGCAGGGCTTGGAGGATAC	0.564													49	38	---	---	---	---					
SERTAD2	9792	broad.mit.edu	37	2	64863695	64863695	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr2:64863695delG	ENST00000313349.3	-	2	608	c.311delC	c.(310-312)cgfs	p.P105fs	SERTAD2_ENST00000476805.1_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	105					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.P104L(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GAAGGCCGGCGGGGCCTCTCG	0.697													31	42	---	---	---	---					
BSN	8927	broad.mit.edu	37	3	49699715	49699715	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr3:49699715delG	ENST00000296452.4	+	6	10551	c.10437delG	c.(10435-10437)gcfs	p.A3479fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3479					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TTCAAAAAGCGGGCCCCAAGC	0.622													21	12	---	---	---	---					
GUCY1A3	2982	broad.mit.edu	37	4	156634672	156634674	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr4:156634672_156634674delCAC	ENST00000296518.7	+	7	1718_1720	c.1509_1511delCAC	c.(1507-1512)atc>at	p.IT503del	GUCY1A3_ENST00000513574.1_In_Frame_Del_p.IT503del|GUCY1A3_ENST00000393832.3_In_Frame_Del_p.IT245del|GUCY1A3_ENST00000506455.1_In_Frame_Del_p.IT503del|GUCY1A3_ENST00000455639.2_In_Frame_Del_p.IT503del|GUCY1A3_ENST00000511507.1_In_Frame_Del_p.IT503del|GUCY1A3_ENST00000511108.1_In_Frame_Del_p.IT503del			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	503	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGCAGGTCATCACCATGCTCAAT	0.498													21	13	---	---	---	---					
C5orf38	153571	broad.mit.edu	37	5	2755229	2755229	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:2755229delC	ENST00000397835.4	+	3	420	c.420delC	c.(418-420)ggfs	p.G140fs	C5orf38_ENST00000334000.3_3'UTR			Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	0						extracellular region				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GAACAGCCGGCCCCGGAGGCT	0.701													25	43	---	---	---	---					
ADAMTS12	81792	broad.mit.edu	37	5	33881301	33881301	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr5:33881301delG	ENST00000504830.1	-	2	747	c.412delC	c.(412-414)tcfs	p.L138fs	ADAMTS12_ENST00000515401.1_Frame_Shift_Del_p.L138fs|ADAMTS12_ENST00000352040.3_Frame_Shift_Del_p.L138fs	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	138					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.L138I(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGATGGCAGAGGGGGGCAGAG	0.537										HNSCC(64;0.19)			27	33	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)caa>ca	p.QQ102del	PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del|PPP1R18_ENST00000488324.1_Intron	NM_133471.3	NP_597728.1	Q6NYC8	PHTNS_HUMAN	protein phosphatase 1, regulatory subunit 18	102	Poly-Gln.					cytoplasm|cytoskeleton	actin binding	p.Q100Q(1)									CCGTtgttgttgctgctgctgct	0.650													7	105	---	---	---	---					
RXRB	6257	broad.mit.edu	37	6	33162510	33162510	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:33162510delG	ENST00000374680.3	-	10	1762	c.1551delC	c.(1549-1551)ccfs	p.P517fs	RXRB_ENST00000374685.4_Frame_Shift_Del_p.P521fs|RXRB_ENST00000544186.1_Frame_Shift_Del_p.P331fs	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	517	Ligand-binding (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	AGGTGTCGATGGGGGTGTCAC	0.547													22	26	---	---	---	---					
TINAG	27283	broad.mit.edu	37	6	54212178	54212178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:54212178delC	ENST00000259782.4	+	6	858	c.762delC	c.(760-762)gafs	p.D254fs		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	254					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGCTGCTGACCGAATAGCAA	0.398													16	17	---	---	---	---					
RFX6	222546	broad.mit.edu	37	6	117237389	117237389	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:117237389delG	ENST00000332958.2	+	9	900	c.884delG	c.(883-885)tgfs	p.W295fs	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	295					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTACACTTTTGGCAAGGAATG	0.333													11	44	---	---	---	---					
RFX6	222546	broad.mit.edu	37	6	117248197	117248197	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr6:117248197delG	ENST00000332958.2	+	17	1909	c.1893delG	c.(1891-1893)atfs	p.M631fs		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	631					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CAGGTCAAATGGAGCTTTCAC	0.398													18	54	---	---	---	---					
TMEM184A	202915	broad.mit.edu	37	7	1586653	1586654	+	In_Frame_Ins	INS	-	-	GCC	rs112463195	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:1586653_1586654insGCC	ENST00000297477.5	-	9	1492_1493	c.1176_1177insGGC	c.(1174-1179)ggccgg>ggGGCccgg	p.392_393GR>GAR		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	392						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		CTCCCGCCGGAGCCGCCGCTGG	0.708													16	35	---	---	---	---					
FZD1	8321	broad.mit.edu	37	7	90894473	90894474	+	In_Frame_Ins	INS	-	-	GCT			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:90894473_90894474insGCT	ENST00000287934.2	+	1	691_692	c.278_279insGCT	c.(277-279)cca>cGCTca	p.93_93P>RS		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	93	Poly-Pro.			P -> PP (in Ref. 1; AAD41636).	autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CCGCCGCCGCCTCAGCAGCAAC	0.748													26	22	---	---	---	---					
TECPR1	25851	broad.mit.edu	37	7	97875295	97875300	+	In_Frame_Del	DEL	TAGACC	TAGACC	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:97875295_97875300delTAGACC	ENST00000447648.2	-	3	458_463	c.159_164delGGTCTA	c.(157-165)cac>ca	p.QVY53del	TECPR1_ENST00000542604.1_Intron|TECPR1_ENST00000379795.3_In_Frame_Del_p.QVY53del			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	53						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACATACACGTAGACCTGGTTGTCAC	0.602													6	5	---	---	---	---					
MEPCE	56257	broad.mit.edu	37	7	100028562	100028562	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr7:100028562delC	ENST00000310512.2	+	1	1309	c.921delC	c.(919-921)ggfs	p.G307fs	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	307							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCACAGGGGCCAGAACCGGG	0.657													14	220	---	---	---	---					
DLGAP2	9228	broad.mit.edu	37	8	1497819	1497820	+	Frame_Shift_Ins	INS	-	-	C			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr8:1497819_1497820insC	ENST00000421627.2	+	2	1094_1095	c.960_961insC	c.(958-963)aaccgcfs	p.R321fs		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	400					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		AGGACGCCAAGCCCGCCCTGAG	0.624													5	2	---	---	---	---					
GRIN3A	116443	broad.mit.edu	37	9	104433106	104433106	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr9:104433106delC	ENST00000361820.3	-	3	2188	c.1588delG	c.(1588-1590)agfs	p.E530fs		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	530					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)	TCATCTACCTCCCTTGTGAAG	0.498													38	13	---	---	---	---					
GDF2	2658	broad.mit.edu	37	10	48413956	48413966	+	Frame_Shift_Del	DEL	CGTGTCCTCCT	CGTGTCCTCCT	-	rs75024165	byFrequency	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:48413956_48413966delCGTGTCCTCCT	ENST00000249598.1	-	2	1061_1071	c.902_912delAGGAGGACACG	c.(901-912)gfs	p.EEDT301fs		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	301					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGTGGCCATCCGTGTCCTCCTCGTGACTGCT	0.611													8	50	---	---	---	---					
ERCC6	2074	broad.mit.edu	37	10	50740724	50740724	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:50740724delC	ENST00000355832.5	-	2	365	c.287delG	c.(286-288)gtfs	p.G96fs	PGBD3_ENST00000603152.1_Frame_Shift_Del_p.G96fs|ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.G96fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.G96fs	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	96					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GACGTCCACACCCAAACCCTG	0.622								Direct reversal of damage;Nucleotide excision repair (NER)					26	78	---	---	---	---					
LRIT1	26103	broad.mit.edu	37	10	85993878	85993878	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr10:85993878delC	ENST00000372105.3	-	3	867	c.846delG	c.(844-846)ggfs	p.G282fs		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	282	Ig-like C2-type.					integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						TCATCTCGGGCCCAGGGACTC	0.607													28	12	---	---	---	---					
KRTAP5-3	387266	broad.mit.edu	37	11	1629389	1629389	+	Frame_Shift_Del	DEL	C	C	-	rs7125826		TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:1629389delC	ENST00000399685.1	-	1	304	c.227delG	c.(226-228)gcfs	p.G76fs		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	76	11 X 4 AA repeats of C-C-X-P.		G -> V (in dbSNP:rs7125826).			keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGAGCCACAGCCCCCCTTGCA	0.677													81	77	---	---	---	---					
OR52L1	338751	broad.mit.edu	37	11	6007333	6007333	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:6007333delG	ENST00000332249.4	-	1	882	c.828delC	c.(826-828)tcfs	p.S276fs		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGTGAGGAAGGAGAAAATTC	0.502													13	37	---	---	---	---					
USH1C	10083	broad.mit.edu	37	11	17531110	17531110	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr11:17531110delG	ENST00000005226.7	-	18	1805	c.1806delC	c.(1804-1806)ccfs	p.P602fs	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GGATGGGAATGGGGGGTGGAG	0.662													5	11	---	---	---	---					
KRT74	121391	broad.mit.edu	37	12	52960820	52960820	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:52960820delC	ENST00000549343.1	-	10	1603	c.1565delG	c.(1564-1566)gafs	p.G522fs	KRT74_ENST00000305620.2_Frame_Shift_Del_p.G508fs			Q7RTS7	K2C74_HUMAN	keratin 74	508	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTTGAGGTCTCCCCCTCGCGC	0.662													52	116	---	---	---	---					
DNAH10	196385	broad.mit.edu	37	12	124325971	124325971	+	Frame_Shift_Del	DEL	A	A	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr12:124325971delA	ENST00000409039.3	+	29	4910	c.4885delA	c.(4885-4887)agfs	p.K1629fs		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1629	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAGTTTCGGAAGATCTTGCG	0.458													68	76	---	---	---	---					
CYSLTR2	57105	broad.mit.edu	37	13	49281743	49281744	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:49281743_49281744delCA	ENST00000282018.3	+	1	793_794	c.790_791delCA	c.(790-792)cfs	p.H264fs		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	264					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CCTGCCCTATCACACACTGAGG	0.505													21	37	---	---	---	---					
NALCN	259232	broad.mit.edu	37	13	101833522	101833523	+	Frame_Shift_Ins	INS	-	-	T			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr13:101833522_101833523insT	ENST00000376196.3	-	15	2089_2090	c.1930_1931insA	c.(1930-1932)cagfs	p.Q644fs	NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000251127.6_Intron			Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1557						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GAGAAGACTGATTTTGGAAAAG	0.540													34	43	---	---	---	---					
MEFV	4210	broad.mit.edu	37	16	3299583	3299583	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr16:3299583delG	ENST00000219596.1	-	3	1147	c.1108delC	c.(1108-1110)agfs	p.Q370fs	MEFV_ENST00000339854.4_Frame_Shift_Del_p.Q190fs|MEFV_ENST00000541159.1_Frame_Shift_Del_p.Q159fs|MEFV_ENST00000536379.1_Frame_Shift_Del_p.Q159fs	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	370					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GGCAGGGGCTGGGGGCTTAGG	0.637													21	23	---	---	---	---					
NT5M	56953	broad.mit.edu	37	17	17207081	17207089	+	In_Frame_Del	DEL	CGCGGCTTC	CGCGGCTTC	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:17207081_17207089delCGCGGCTTC	ENST00000389022.4	+	1	433_441	c.217_225delCGCGGCTTC	c.(217-225)del	p.RGF73del		NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	73					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GGAGGACCGGCGCGGCTTCTGGGTGTCGG	0.727													9	10	---	---	---	---					
MAP3K14	9020	broad.mit.edu	37	17	43342743	43342743	+	RNA	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:43342743delG	ENST00000344686.2	-	0	2684				MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GCCCTATGTAGGGGGAGCAGG	0.522													5	5	---	---	---	---					
ABCA9	10350	broad.mit.edu	37	17	66980278	66980278	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr17:66980278delC	ENST00000340001.4	-	35	4629	c.4418delG	c.(4417-4419)gcfs	p.G1473fs	ABCA9_ENST00000453985.2_Frame_Shift_Del_p.G1435fs|ABCA9_ENST00000370732.2_3'UTR	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1473	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAGGAGGGCGCCCCTCTCCGT	0.532													26	48	---	---	---	---					
SETBP1	26040	broad.mit.edu	37	18	42530616	42530616	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr18:42530616delG	ENST00000282030.5	+	4	1607	c.1311delG	c.(1309-1311)ttfs	p.L437fs		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	437						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)		AGAAAGCCTTGGCTTCTGGAA	0.458									Schinzel-Giedion syndrome				13	21	---	---	---	---					
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:35940788_35940790delCTG	ENST00000599180.1	+	2	252_254	c.172_174delCTG	c.(172-174)del	p.L62del	FFAR2_ENST00000246549.2_In_Frame_Del_p.L62del|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645													7	114	---	---	---	---					
TEX101	83639	broad.mit.edu	37	19	43920074	43920075	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:43920074_43920075delGG	ENST00000602198.1	+	4	499_500	c.57_58delGG	c.(55-60)atgafs	p.MG19fs	TEX101_ENST00000253435.7_Frame_Shift_Del_p.MG19fs|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000598265.1_Start_Codon_Del	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	1						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				AAGAAGCCATGGGAACCCCTCG	0.530													44	558	---	---	---	---					
ZNF285	26974	broad.mit.edu	37	19	44891693	44891694	+	Frame_Shift_Ins	INS	-	-	A			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:44891693_44891694insA	ENST00000330997.4	-	4	777_778	c.713_714insT	c.(712-714)ggtfs	p.G238fs	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Frame_Shift_Ins_p.G238fs|ZNF285_ENST00000591679.1_Frame_Shift_Ins_p.G245fs	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CAAAGGCCACCCCACAGTTATT	0.426													59	309	---	---	---	---					
CLASRP	11129	broad.mit.edu	37	19	45572472	45572472	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:45572472delG	ENST00000544944.2	+	16	2475	c.1783delG	c.(1783-1785)agfs	p.E595fs	CLASRP_ENST00000221455.3_Frame_Shift_Del_p.E614fs|CLASRP_ENST00000391953.4_Frame_Shift_Del_p.E552fs			Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	614	Arg-rich.				mRNA processing|RNA splicing	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCGGGAAGACGAGCTTCGAGC	0.652													18	285	---	---	---	---					
FBXO46	23403	broad.mit.edu	37	19	46216293	46216293	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:46216293delG	ENST00000317683.3	-	2	594	c.461delC	c.(460-462)ctfs	p.P154fs		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	154							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTCAGCAGCAGGGGGGCCCTC	0.716													15	64	---	---	---	---					
SCAF1	58506	broad.mit.edu	37	19	50158042	50158042	+	Frame_Shift_Del	DEL	C	C	-	rs149487378	by1000genomes	TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:50158042delC	ENST00000360565.3	+	9	3657	c.3533delC	c.(3532-3534)acfs	p.T1178fs		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1178					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGCGGTTCGACCCCCCCCACC	0.692													40	14	---	---	---	---					
GPR32	2854	broad.mit.edu	37	19	51274366	51274366	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:51274366delC	ENST00000270590.4	+	1	646	c.509delC	c.(508-510)gcfs	p.A171fs		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	171						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)		CTCCTGGCCGCCGCCTTGTGC	0.607													65	11	---	---	---	---					
ZNF841	284371	broad.mit.edu	37	19	52569042	52569042	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:52569042delC	ENST00000389534.4	-	7	2552	c.2093delG	c.(2092-2094)aafs	p.R698fs	ZNF841_ENST00000359973.2_Intron|ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000426391.2_Frame_Shift_Del_p.R582fs|ZNF841_ENST00000594295.1_Frame_Shift_Del_p.R698fs	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TCTGTGATATCTTGCAAGTTT	0.388													12	0	---	---	---	---					
NLRP9	338321	broad.mit.edu	37	19	56244032	56244033	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr19:56244032_56244033delTG	ENST00000332836.2	-	2	1191_1192	c.1164_1165delCA	c.(1162-1167)aagafs	p.NR388fs		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	388	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AGTCGGGCTCTGTTCACCTTAG	0.416													62	10	---	---	---	---					
CCT8L2	150160	broad.mit.edu	37	22	17072522	17072522	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:17072522delC	ENST00000359963.3	-	1	1178	c.919delG	c.(919-921)cgfs	p.A307fs		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	307					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TACTTGTCCGCCAGTGTGAGG	0.527													74	149	---	---	---	---					
USP18	11274	broad.mit.edu	37	22	18656004	18656004	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chr22:18656004delG	ENST00000215794.7	+	9	1409	c.979delG	c.(979-981)tgfs	p.V327fs		NM_017414.3	NP_059110.2	Q9UMW8	UBP18_HUMAN	ubiquitin specific peptidase 18	327					regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway|ubiquitin-dependent protein catabolic process	cytosol|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|stomach(1)	10						CCGGAATGCTGTGGATGGAAA	0.478													17	10	---	---	---	---					
PIM2	11040	broad.mit.edu	37	X	48771840	48771840	+	Frame_Shift_Del	DEL	C	C	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:48771840delC	ENST00000376509.4	-	5	793	c.604delG	c.(604-606)tgfs	p.V202fs	PIM2_ENST00000485431.1_5'UTR	NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	202	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GGGCTGTACACCCTTGTCCCT	0.557													15	25	---	---	---	---					
MAGED2	10916	broad.mit.edu	37	X	54841706	54841706	+	Frame_Shift_Del	DEL	G	G	-			TCGA-62-A46O-01A-11D-A24D-08	TCGA-62-A46O-10A-01D-A24F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff9ce3ef-d0d4-45b0-a506-e87732d1480e	4fb194cb-66e6-484e-b119-b27f5cf8e487	g.chrX:54841706delG	ENST00000375068.1	+	12	1645	c.1412delG	c.(1411-1413)tgfs	p.W471fs	MAGED2_ENST00000396224.1_Frame_Shift_Del_p.W471fs|MAGED2_ENST00000347546.3_Frame_Shift_Del_p.W415fs|MAGED2_ENST00000375062.4_Frame_Shift_Del_p.W386fs|MAGED2_ENST00000218439.4_Frame_Shift_Del_p.W471fs|MAGED2_ENST00000375060.1_Frame_Shift_Del_p.W386fs|MAGED2_ENST00000343474.6_Frame_Shift_Del_p.W453fs|MAGED2_ENST00000375053.2_Frame_Shift_Del_p.W471fs|MAGED2_ENST00000375058.1_Frame_Shift_Del_p.W471fs			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	471	MAGE.									breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						CCCAAGGAATGGGCAGCTCAG	0.468													11	61	---	---	---	---					
