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
AMER3	205147	broad.mit.edu	37	2	131520725	131520725	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:131520725C>T	ENST00000423981.1	+	2	1190	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	AMER3_ENST00000321420.4_Silent_p.S360S	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																		ACCCTCGCAGCGGCTCCAAAG	0.652000													6	145					0	0	1	0	0
BBS2	583	broad.mit.edu	37	16	56535366	56535366	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:56535366C>T	ENST00000245157.5	-	10	1544	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	BBS2_ENST00000568104.1_Missense_Mutation_p.G375D	NM_031885.3	NP_114091.3	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	375					adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGGGATTATGCCCCGATGCCC	0.498000									Bardet-Biedl syndrome				5	498					0	0	1	0	0
PRPF8	10594	broad.mit.edu	37	17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1141						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517000													5	420					0	0	1	0	0
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443000													5	206					0	0	1	0	0
ANKAR	150709	broad.mit.edu	37	2	190597916	190597916	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:190597916A>G	ENST00000520309.1	+	17	3472	c.3384A>G	c.(3382-3384)gaA>gaG	p.E1128E	ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Silent_p.E1057E|ANKAR_ENST00000313581.4_Silent_p.E1128E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1128						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGGATTTGAATATGCTGATG	0.333000													88	162					0	0	1	0	0
IFT46	56912	broad.mit.edu	37	11	118416125	118416125	+	Splice_Site	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:118416125T>C	ENST00000264020.2	-	12	1348	c.972_splice	c.e12+1	p.Q324_splice	IFT46_ENST00000264021.3_Splice_Site_p.Q273_splice|IFT46_ENST00000530872.1_Intron|TMEM25_ENST00000354284.4_Intron|TMEM25_ENST00000442938.2_Intron	NM_020153.3	NP_064538.3	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46 homolog (Chlamydomonas)	273					flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTGGCTCACCTGTGAGTTCTT	0.463000													169	334					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214182035	214182035	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:214182035A>C	ENST00000413312.1	+	4	644	c.398A>C	c.(397-399)aAc>aCc	p.N133T	SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000331683.5_Missense_Mutation_p.N164T|SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T			Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	164					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GAAAATGAGAACAAAAATTTA	0.313000													77	146					0	0	1	0	0
VWA9	81556	broad.mit.edu	37	15	65890685	65890685	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:65890685T>C	ENST00000395644.4	-	6	1057	c.722A>G	c.(721-723)gAt>gGt	p.D241G	VWA9_ENST00000431261.2_Missense_Mutation_p.D162G|VWA9_ENST00000313182.2_Missense_Mutation_p.D241G|VWA9_ENST00000567744.1_Missense_Mutation_p.D277G|VWA9_ENST00000420799.2_Missense_Mutation_p.D184G|VWA9_ENST00000569491.1_Missense_Mutation_p.D192G|VWA9_ENST00000442903.3_Missense_Mutation_p.D205G					von Willebrand factor A domain containing 9																		AGGGATAGGATCAATTTCTTC	0.378000													81	199					0	0	1	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549369	58549369	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:58549369G>A	ENST00000282326.1	+	3	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ZSCAN1_ENST00000601162.1_Silent_p.A55A|ZSCAN1_ENST00000391700.1_Silent_p.A55A	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCACCTCGCGCTGGGCCAGC	0.706000													27	91					0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70308630	70308630	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:70308630A>G	ENST00000517649.1	-	4	403	c.113T>C	c.(112-114)cTa>cCa	p.L38P	NAIP_ENST00000508426.2_Missense_Mutation_p.L38P|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L38P	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	38					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTCTTCTAGTTCCTTTGC	0.463000													173	345					0	0	1	0	0
ASIC1	41	broad.mit.edu	37	12	50452799	50452799	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:50452799C>G	ENST00000228468.4	+	2	635	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	ASIC1_ENST00000447966.2_Missense_Mutation_p.Q84E	NM_020039.3	NP_064423.2	P78348	ACCN2_HUMAN	acid-sensing (proton-gated) ion channel 1	84					calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding									Amiloride(DB00594)	GGCTGCCTCTCAGCTTACCTT	0.582000													63	203					0	0	1	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418000													151	319					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10433385	10433385	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:10433385C>T	ENST00000245503.5	-	23	3088	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	902					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCAAGCCTTCGGCTTCCTTA	0.393000													6	449					0	0	1	0	0
PLCXD1	55344	broad.mit.edu	37	X	215966	215966	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:215966C>T	ENST00000381657.2	+	7	1450	c.936C>T	c.(934-936)gaC>gaT	p.D312D	PLCXD1_ENST00000399012.1_Silent_p.D312D|PLCXD1_ENST00000381663.3_Silent_p.D312D	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	312					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGTCAGTGACGTCATCGCGC	0.627000													108	148					0	0	1	0	0
FBXO10	26267	broad.mit.edu	37	9	37537233	37537233	+	Silent	SNP	G	G	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:37537233G>C	ENST00000432825.2	-	3	1341	c.1293C>G	c.(1291-1293)ctC>ctG	p.L431L	FBXO10_ENST00000541829.1_Intron|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	431						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTTGCGGATGAGGCAGCCCT	0.602000													4	166					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414280	20414280	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:20414280G>A	ENST00000380338.4	-	5	850	c.564C>T	c.(562-564)agC>agT	p.S188S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S185S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	188	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S188S(1)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TGGTActactgctgctgctgc	0.502000			T	MLL	ALL								5	300					0	0	1	0	0
BTRC	8945	broad.mit.edu	37	10	103239151	103239151	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:103239151C>G	ENST00000370187.3	+	4	379	c.261C>G	c.(259-261)tgC>tgG	p.C87W	BTRC_ENST00000408038.2_Missense_Mutation_p.C51W|BTRC_ENST00000393441.4_Missense_Mutation_p.C46W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAGACTCTGCTTAAACCAAG	0.353000													90	177					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53692717	53692717	+	Silent	SNP	C	C	T	rs75427086	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368000													4	108					0	0	1	0	0
TXK	7294	broad.mit.edu	37	4	48069714	48069714	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:48069714T>C	ENST00000264316.4	-	15	1609	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E	TXK_ENST00000507351.1_Silent_p.E163E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	508	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGGGCGGCCTTCAGGTTTCT	0.507000													66	178					0	0	1	0	0
FZD7	8324	broad.mit.edu	37	2	202900208	202900208	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:202900208C>T	ENST00000286201.1	+	1	899	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	280					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGGACATGCGGCGCTTCAG	0.662000											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	929					0	0	1	0	0
KRTAP5-8	57830	broad.mit.edu	37	11	71249298	71249298	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:71249298C>G	ENST00000398534.3	+	1	228	c.197C>G	c.(196-198)tCc>tGc	p.S66C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	66	9 X 4 AA repeats of C-C-X-P.					extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGTGGGGGCTCCAAGGGGGAC	0.662000													15	955					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203821508	203821508	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:203821508C>G	ENST00000545588.1	+	17	6241	c.2414C>G	c.(2413-2415)tCa>tGa	p.S805*	ZC3H11A_ENST00000367212.3_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367210.1_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000332127.4_Nonsense_Mutation_p.S805*|ZC3H11A_ENST00000367214.1_Nonsense_Mutation_p.S805*	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	805							nucleic acid binding|protein binding|zinc ion binding	p.S805*(3)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTTGAGCTATCAGAAATGATT	0.378000													5	231					0	0	1	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532397	40532397	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:40532397C>T	ENST00000297737.6	-	5	549	c.403G>A	c.(403-405)Gca>Aca	p.A135T	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	135						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TAGGGAGATGCGACCACCGGA	0.517000													7	467					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S														p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363000													5	419					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80747175	80747175	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:80747175C>A	ENST00000458043.2	+	45	5457	c.5451C>A	c.(5449-5451)aaC>aaA	p.N1817K	OTOGL_ENST00000547103.1_Missense_Mutation_p.N1805K	NM_173591.3	NP_775862.3			otogelin-like											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATGCCTGAACCAATGGTTCT	0.453000													18	32					7.07596e-05	7.33327e-05	1	1	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													10	181					0	0	1	0	0
NBPF14	25832	broad.mit.edu	37	1	148017611	148017611	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:148017611A>G	ENST00000369219.1	-	6	688	c.672T>C	c.(670-672)ggT>ggC	p.G224G				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	224	NBPF 2.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GAGTCGAATAACCTTCATCCC	0.493000													237	2251					0	0	1	0	0
PKD2	5311	broad.mit.edu	37	4	88986632	88986632	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:88986632G>A	ENST00000237596.2	+	11	2291	c.2225G>A	c.(2224-2226)cGa>cAa	p.R742Q	PKD2_ENST00000508588.1_Missense_Mutation_p.R160Q|PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q	NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	742	EF-hand domain.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACGAACTTCGACAAGATCTC	0.403000													80	203					0	0	1	0	0
GALNT13	114805	broad.mit.edu	37	2	155099379	155099379	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:155099379G>A	ENST00000392825.3	+	6	1214	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	216	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						TGCACGTTAGGATGGCTGGAG	0.473000													5	166					0	0	1	0	0
TBC1D14	57533	broad.mit.edu	37	4	7011659	7011659	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7011659G>A	ENST00000409757.4	+	10	1626	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	TBC1D14_ENST00000446947.2_Missense_Mutation_p.R148Q|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R221Q|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R273Q|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R501Q	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	501	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACTTGTTACCGGCCAGATGTG	0.383000													6	982					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21798095	21798095	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:21798095A>G	ENST00000318220.6	+	8	1360	c.312A>G	c.(310-312)cgA>cgG	p.R104R	NBPF3_ENST00000318249.5_Silent_p.R160R|NBPF3_ENST00000342104.5_Silent_p.R160R|NBPF3_ENST00000454000.2_Silent_p.R90R			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	160						cytoplasm				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)		CTCAGGAACGAGAGCTGACCC	0.473000													6	556					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42129663	42129663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129663G>A	ENST00000520810.1	+	2	231	c.45G>A	c.(43-45)tgG>tgA	p.W15*	IKBKB_ENST00000519735.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000522147.1_Nonsense_Mutation_p.W15*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	15	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	GTGGGGCCTGGGAAATGAAAG	0.537000													114	131					0	0	1	0	0
SLC36A2	153201	broad.mit.edu	37	5	150715058	150715058	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:150715058C>T	ENST00000335244.4	-	6	705	c.576G>A	c.(574-576)acG>acA	p.T192T	SLC36A2_ENST00000521967.1_Silent_p.T192T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	192					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCAGAATCACCGTCTCATTGG	0.522000													83	199					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216061988	216061988	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216061988T>C	ENST00000366943.2	-	41	8389	c.8003A>G	c.(8002-8004)gAa>gGa	p.E2668G	USH2A_ENST00000307340.3_Missense_Mutation_p.E2668G|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2668	Fibronectin type-III 13.				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)		GGTAGTAACTTCTTCCTTTCC	0.448000										HNSCC(13;0.011)			14	361					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123937395	123937395	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:123937395G>A	ENST00000373855.1	+	43	7107	c.6847G>A	c.(6847-6849)Gct>Act	p.A2283T	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.A1731T|CNTRL_ENST00000238341.5_Missense_Mutation_p.A2283T			Q7Z7A1	CNTRL_HUMAN	centriolin	2283	Sufficient for interaction with HOOK2.				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACAAGTAGATGCTTTAGGGGA	0.498000													6	297					0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207787753	207787753	+	Nonsense_Mutation	SNP	C	C	T	rs55749440		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:207787753C>T	ENST00000367049.4	+	40	6580	c.6580C>T	c.(6580-6582)Cga>Tga	p.R2194*	CR1_ENST00000367051.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000400960.2_Nonsense_Mutation_p.R1744*|CR1_ENST00000367052.1_Nonsense_Mutation_p.R1744*|CR1_ENST00000367053.1_Nonsense_Mutation_p.R1744*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1744					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	p.R1749*(9)|p.R2194*(9)|p.R1744*(1)		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						CTTTAGGTTCCGATTAAAAGG	0.423000													5	219					0	0	1	0	0
POMZP3	22932	broad.mit.edu	37	7	76254991	76254991	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:76254991C>G	ENST00000310842.4	-	3	759	c.75G>C	c.(73-75)caG>caC	p.Q25H	UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.Q25H|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	25										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCTGATTATCTGCTCTGGTC	0.418000													12	588					0	0	1	0	0
CCT6P1	0	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167																											AGGTTCTTGCGCAGAATTCTG	0.383000													5	88					0.217242	0.217242	1	1	0
MATN1	4146	broad.mit.edu	37	1	31191606	31191606	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:31191606T>G	ENST00000373765.4	-	3	675	c.640A>C	c.(640-642)Agg>Cgg	p.R214R	MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'UTR	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	214	VWFA 1.				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAACTTCCTGGACAGCTTC	0.706000													32	36					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27777959	27777959	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:27777959C>T	ENST00000333743.6	+	10	1590	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	446					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		CTCGTACTCCCGGGTCTTTTT	0.473000													35	121					0	0	1	0	0
NPY1R	0	broad.mit.edu	37	4	164246771	164246771	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:164246771G>A	ENST00000296533.2	-	3	1370	c.839C>T	c.(838-840)aCc>aTc	p.T280I	NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	280					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTAAAGATGGTAAGAGGGAG	0.428000													82	141					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C	rs138973461	by1000genomes	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:45128735T>C	ENST00000575173.1	-	0	418																											GAAATACTAATGATTTTTATT	0.323000													6	418					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537000													5	104					0	0	1	0	0
ZNF681	148213	broad.mit.edu	37	19	23927502	23927502	+	Missense_Mutation	SNP	G	G	A	rs150717337	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:23927502G>A	ENST00000402377.3	-	4	991	c.850C>T	c.(850-852)Cgt>Tgt	p.R284C	ZNF681_ENST00000395385.3_Missense_Mutation_p.R215C	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTCTTCACGTTTGTAGGGA	0.363000													107	189					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629160	1629160	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:1629160C>T	ENST00000399685.1	-	1	533	c.456G>A	c.(454-456)aaG>aaA	p.K152K		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	152	11 X 4 AA repeats of C-C-X-P.					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)		AGCAGCTGGGCTTGCAGCAGC	0.637000													8	892					0	0	1	0	0
SLC24A2	25769	broad.mit.edu	37	9	19786147	19786147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:19786147G>A	ENST00000341998.2	-	1	779	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACACATCTCGAAAGAGCGGC	0.398000													45	162					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118221146	118221146	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:118221146C>A	ENST00000402510.2	-	11	4046	c.4047G>T	c.(4045-4047)aaG>aaT	p.K1349N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1349										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCACTGGGCCCTTTGATGACA	0.473000													75	584					7.29696e-51	7.70235e-51	1	1	0
UGGT2	55757	broad.mit.edu	37	13	96675949	96675949	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:96675949G>A	ENST00000376747.3	-	3	376	c.306C>T	c.(304-306)caC>caT	p.H102H	UGGT2_ENST00000397618.3_Silent_p.H102H|UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000376712.4_Silent_p.H102H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	102					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAAGGTTGATGTGTAAATTGT	0.328000													136	290					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102303120	102303120	+	RNA	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:102303120C>G	ENST00000561463.1	+	0	11166																											CTTCTCAGAGCTGCTGTCCAA	0.592000													10	122					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4752111	4752111	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:4752111C>T	ENST00000304283.4	-	9	1295	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	ANKS3_ENST00000450067.2_Missense_Mutation_p.S128N|ANKS3_ENST00000585773.1_Missense_Mutation_p.S261N|ANKS3_ENST00000446014.2_Missense_Mutation_p.S205N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	334	Ser-rich.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCCCGActgctgctgctgct	0.662000													4	131					0	0	1	0	0
MYF6	4618	broad.mit.edu	37	12	81101627	81101627	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:81101627C>T	ENST00000228641.3	+	1	351	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	43					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCTTGTCCCCCTGCCAGGACC	0.597000													91	186					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53692748	53692748	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:53692748A>G	ENST00000371470.3	-	5	571	c.410T>C	c.(409-411)aTt>aCt	p.I137T	MAGOH_ENST00000371466.4_Missense_Mutation_p.I100T	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	137					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	p.I137T(1)		haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						GTGTAATCCAATAAGACTGAA	0.378000													4	135					0	0	1	0	0
EYS	346007	broad.mit.edu	37	6	66063349	66063349	+	Splice_Site	SNP	A	A	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:66063349A>T	ENST00000503581.1	-	9	1997		c.e9+1		EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000370621.3_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000342421.5_Splice_Site|EYS_ENST00000370616.2_Splice_Site	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAAATTTGTTACCTGCAAATC	0.333000													93	151					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			9	111					0	0	1	0	0
ZSCAN2	54993	broad.mit.edu	37	15	85147523	85147523	+	Missense_Mutation	SNP	C	C	T	rs142869560		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:85147523C>T	ENST00000448803.2	+	2	657	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.A122V	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	122	SCAN box.				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAGGAGGCAGCGGCCCTGGTG	0.567000													51	129					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825946	102825946	+	RNA	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:102825946C>T	ENST00000312132.4	-	0	3751																											GACAGCTTGACACTTGCCATT	0.373000													6	262					0	0	1	0	0
WDR17	116966	broad.mit.edu	37	4	177069371	177069371	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:177069371T>A	ENST00000393643.2	+	13	2034	c.1782T>A	c.(1780-1782)aaT>aaA	p.N594K	WDR17_ENST00000508596.1_Missense_Mutation_p.N594K|WDR17_ENST00000280190.4_Missense_Mutation_p.N618K|WDR17_ENST00000507824.2_Missense_Mutation_p.N601K	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	618										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)		TAATGTGGAATACTGAGATTC	0.413000													188	341					0	0	1	0	0
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403							protein binding	p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507000													5	374					0.000602214	0.000616639	1	1	0
ABCB4	5244	broad.mit.edu	37	7	87060829	87060829	+	Missense_Mutation	SNP	C	C	T	rs144398632		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:87060829C>T	ENST00000265723.4	-	15	1895	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q	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	595	ABC transporter 1.				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)					ATCTGCATTTCGGACCGTAGA	0.488000													5	420					0	0	1	0	0
SORCS2	57537	broad.mit.edu	37	4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	320						integral to membrane	neuropeptide receptor activity	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597000													28	78					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		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						GGAGCCTCCCAATACTGGAGT	0.642000													6	298					0	0	1	0	0
SEC31A	22872	broad.mit.edu	37	4	83742207	83742207	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:83742207T>C	ENST00000432794.1	-	27	3668	c.3505A>G	c.(3505-3507)Aaa>Gaa	p.K1169E	SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E|SEC31A_ENST00000395310.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E|SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1156					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCTAAGTTTATCATACAGA	0.338000													19	709					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:128426243A>G	ENST00000392668.3	-	3	225	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT.				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)		TCATCCCAAAAGGGGTAGCAA	0.448000													4	235					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30185169	30185169	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr22:30185169G>A	ENST00000397771.2	-	21	2284	c.2107C>T	c.(2107-2109)Cgg>Tgg	p.R703W	ASCC2_ENST00000307790.3_Missense_Mutation_p.R703W|ASCC2_ENST00000542393.1_Missense_Mutation_p.R627W			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	703					regulation of transcription, DNA-dependent|transcription, DNA-dependent			p.R703W(1)		endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CTGTCATGCCGGTACCTGAGG	0.642000													6	672					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234875381	234875381	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:234875381C>T	ENST00000324695.4	+	15	2047	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	TRPM8_ENST00000433712.2_Silent_p.I357I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	669						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGCATTTCATCGCCCAGCCTG	0.527000													40	63					0	0	1	0	0
IKBKB	3551	broad.mit.edu	37	8	42129664	42129664	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129664G>A	ENST00000520810.1	+	2	232	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	IKBKB_ENST00000519735.1_Missense_Mutation_p.E16K|IKBKB_ENST00000518983.1_Missense_Mutation_p.E16K|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000522147.1_Missense_Mutation_p.E16K	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	16	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TGGGGCCTGGGAAATGAAAGA	0.542000													114	129					0	0	1	0	0
UBBP4	0	broad.mit.edu	37	17	21730916	21730916	+	Missense_Mutation	SNP	G	G	T	rs111245273	by1000genomes	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:21730916G>T	ENST00000584755.1	+	2	615	c.218G>T	c.(217-219)cGg>cTg	p.R73L	UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R73L														p.R73L(24)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCGGAGAGGTGGT	0.552000													8	233					2.80697e-09	2.94474e-09	1	1	0
UBBP4	0	broad.mit.edu	37	17	21731075	21731075	+	Missense_Mutation	SNP	T	T	G	rs111568648		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:21731075T>G	ENST00000584755.1	+	2	774	c.377T>G	c.(376-378)cTg>cGg	p.L126R	UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR|UBBP4_ENST00000578713.1_Missense_Mutation_p.L126R																endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCTGGAAGATGGC	0.537000													5	298					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53644386	53644386	+	Silent	SNP	T	T	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53644386T>A	ENST00000452676.2	-	5	2124	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G566G|ZNF347_ENST00000334197.7_Silent_p.G565G	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	565					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)		AAGGTTTTTCTCCAGTATGGA	0.408000													7	849					0	0	1	0	0
SATB2	23314	broad.mit.edu	37	2	200213649	200213649	+	Silent	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:200213649C>A	ENST00000443023.1	-	6	2236	c.771G>T	c.(769-771)ctG>ctT	p.L257L	SATB2_ENST00000428695.1_Silent_p.L198L|SATB2_ENST00000260926.5_Silent_p.L316L|SATB2_ENST00000417098.1_Silent_p.L316L|SATB2_ENST00000457245.1_Silent_p.L316L			Q9UPW6	SATB2_HUMAN	SATB homeobox 2	316						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGTTTATCAGATGGGCCA	0.527000													14	379					3.27435e-08	3.41411e-08	1	1	0
TYRP1	7306	broad.mit.edu	37	9	12698537	12698537	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:12698537G>C	ENST00000388918.5	+	4	924	c.795G>C	c.(793-795)ttG>ttC	p.L265F	TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	265					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CGGATGACTTGATGGGATCCA	0.433000									Oculocutaneous Albinism				127	151					0	0	1	0	0
RP11-114H24.7	0	broad.mit.edu	37	15	78211548	78211548	+	RNA	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562000													5	479					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:169510502G>T	ENST00000367796.3	-	13	4042	c.3841C>A	c.(3841-3843)Ctt>Att	p.L1281I	F5_ENST00000367797.3_Missense_Mutation_p.L1276I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.502000													10	1223					0.00185496	0.00187691	1	1	0
PZP	5858	broad.mit.edu	37	12	9303328	9303328	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:9303328C>T	ENST00000261336.2	-	34	4324	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PZP_ENST00000381997.2_Silent_p.T1218T	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAAAACTTAGCGTCTGATTTG	0.393000													86	195					0	0	1	0	0
TASP1	55617	broad.mit.edu	37	20	13561621	13561621	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr20:13561621C>T	ENST00000337743.4	-	6	531	c.411G>A	c.(409-411)aaG>aaA	p.K137K	TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Intron	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1	137					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGACTGGGTTCTTGATTCCta	0.408000													12	129					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23527693	23527693	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:23527693T>C	ENST00000296682.3	+	11	2678	c.2496T>C	c.(2494-2496)taT>taC	p.Y832Y		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	832					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.Y832Y(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						AGAAGCCCTATGTCTGCAGGG	0.587000										HNSCC(3;0.000094)			7	475					0	0	1	0	0
PPP2R1A	5518	broad.mit.edu	37	19	52724361	52724361	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:52724361G>A	ENST00000322088.6	+	12	1551	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	498	PP2A subunit C binding.				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TACCTGCACCGCATGACTACG	0.572000			Mis		clear cell ovarian carcinoma								7	351					0	0	1	0	0
CYP4X1	260293	broad.mit.edu	37	1	47514244	47514244	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:47514244C>T	ENST00000371901.3	+	10	1465	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	CYP4X1_ENST00000538609.1_Silent_p.T404T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	405						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TAGGGATCACCGTGGTTCTTA	0.423000													13	523					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													5	361					0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285330	223285330	+	Silent	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:223285330C>G	ENST00000540964.1	-	4	1505	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	TLR5_ENST00000342210.6_Silent_p.L348L			O60602	TLR5_HUMAN	toll-like receptor 5	348					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGTTCCCCCAGAAGGTTAT	0.363000													149	462					0	0	1	0	0
DEF8	54849	broad.mit.edu	37	16	90027351	90027351	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:90027351G>T	ENST00000563594.1	+	7	1524	c.527G>T	c.(526-528)cGc>cTc	p.R176L	DEF8_ENST00000268676.7_Missense_Mutation_p.R237L|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000563795.1_Missense_Mutation_p.R176L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	237					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGTTATTACCGCTGTCACAGT	0.582000													158	380					1.43051e-105	1.51936e-105	1	1	0
ZNF816	125893	broad.mit.edu	37	19	53454217	53454217	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53454217A>C	ENST00000357666.4	-	5	1111	c.811T>G	c.(811-813)Tac>Gac	p.Y271D	ZNF816_ENST00000444460.2_Missense_Mutation_p.Y271D|ZNF816_ENST00000434371.2_Intron|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TATACAATGTATTGCTTCTGA	0.378000													7	483					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195390637	195390637	+	RNA	SNP	A	A	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:195390637A>C	ENST00000445430.1	+	0	481																											GCCATGGTCGAGGTGATGGGC	0.582000													4	14					0	0	1	0	0
C2orf88	84281	broad.mit.edu	37	2	191064754	191064754	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:191064754T>G	ENST00000340623.4	+	2	579	c.168T>G	c.(166-168)acT>acG	p.T56T	C2orf88_ENST00000396974.2_Silent_p.T56T|C2orf88_ENST00000443551.2_Silent_p.T56T|C2orf88_ENST00000409870.1_Silent_p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	56			T -> I (in dbSNP:rs6753459).							kidney(1)|large_intestine(1)|lung(1)	3						GGACCAATACTGTGATCTTGG	0.453000													170	382					0	0	1	0	0
MCF2L	23263	broad.mit.edu	37	13	113742040	113742040	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:113742040C>T	ENST00000397030.1	+	23	2751	c.2714C>T	c.(2713-2715)aCg>aTg	p.T905M	MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M|MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M|MCF2L_ENST00000375608.3_Missense_Mutation_p.T902M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	902	PH.				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|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTTGGCATTACGGAGAACGTG	0.577000													36	96					0	0	1	0	0
SAMD4A	23034	broad.mit.edu	37	14	55226887	55226887	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:55226887C>T	ENST00000251091.5	+	5	1226	c.921C>T	c.(919-921)atC>atT	p.I307I	SAMD4A_ENST00000554335.1_Silent_p.I395I|SAMD4A_ENST00000555192.1_5'UTR|SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000392067.3_Silent_p.I395I	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	395					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	p.I394I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGGACATCATCGAGGGGGGCA	0.632000													7	803					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187005297	187005297	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:187005297C>T	ENST00000296795.2	+	4	2561	c.2457C>T	c.(2455-2457)caC>caT	p.H819H	TLR3_ENST00000504367.1_Silent_p.H542H	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	819	TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTATAACACACCATCTATTAA	0.299000													77	147					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38158301	38158301	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:38158301A>G	ENST00000378505.2	-	10	1329	c.1153T>C	c.(1153-1155)Tta>Cta	p.L385L	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Silent_p.L385L|RPGR_ENST00000318842.7_Silent_p.L385L|RPGR_ENST00000342811.3_Silent_p.L385L|RPGR_ENST00000338898.3_Silent_p.L385L|RPGR_ENST00000309513.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	385					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCCACAGATAAGCAAGTATCA	0.448000													5	100					0	0	1	0	0
IPO5	3843	broad.mit.edu	37	13	98666315	98666315	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:98666315G>A	ENST00000261574.5	+	22	2406	c.2226G>A	c.(2224-2226)gcG>gcA	p.A742A	IPO5_ENST00000539640.1_Silent_p.A599A|IPO5_ENST00000490680.1_Silent_p.A724A	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	724					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	p.A742A(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGCAGCAGCGGAATCCATGC	0.428000													7	405					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	rs142651314	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:21606468C>T	ENST00000392288.2	+	4	1116	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348000													6	418					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348674	197348674	+	RNA	SNP	A	A	G	rs144273946	by1000genomes	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:197348674A>G	ENST00000418868.1	-	0	585					NR_003266.2																						GGCTCTGTCCACCAAATGCAC	0.478000													4	249					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85968486	85968486	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:85968486G>A	ENST00000372117.3	+	12	1272	c.1167_splice	c.e12-1	p.G390_splice	CDHR1_ENST00000440770.2_Splice_Site_p.G149_splice|CDHR1_ENST00000332904.3_Splice_Site_p.G390_splice	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	390	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCTCTAGGGAGCCAATGCC	0.453000													34	99					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52651477	52651477	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651477C>G	ENST00000356770.4	-	13	1525	c.1523G>C	c.(1522-1524)aGa>aCa	p.R508T	PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T|PBRM1_ENST00000409114.3_Missense_Mutation_p.R555T|PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T|PBRM1_ENST00000296302.7_Missense_Mutation_p.R540T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T			Q86U86	PB1_HUMAN	polybromo 1	540					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAAAGTCTTCTGCCTGAACC	0.368000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								7	221					0	0	1	0	0
DPY19L2P2	0	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750																											ACAGCTTGACACTTGCCATTG	0.373000													6	256					0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:18625006G>A	ENST00000406451.3	+	3	275	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H	NM_178423.1|NM_178425.2	NP_848510.1|NP_848512.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					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)	CCTGTTGTCCGTGAGAAGCAA	0.493000													41	317					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186275982	186275982	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:186275982C>T	ENST00000445192.2	+	7	1176	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	PRG4_ENST00000367484.3_Silent_p.T336T|PRG4_ENST00000367485.4_Silent_p.T284T|PRG4_ENST00000367486.3_Silent_p.T334T|PRG4_ENST00000367483.4_Silent_p.T336T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	377	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGGAGC	0.637000													8	542					0	0	1	0	0
CDC37	11140	broad.mit.edu	37	19	10506629	10506629	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:10506629G>A	ENST00000222005.2	-	2	406	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	118					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTTGCTGAGCGTGTCCACGTT	0.662000													9	444					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150349207	150349207	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:150349207C>T	ENST00000218316.3	+	2	1221	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	384	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCTCTGGCCACCCTAAGC	0.587000													4	189					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	69349053	69349053	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:69349053C>A	ENST00000370598.1	+	3	1307	c.486C>A	c.(484-486)agC>agA	p.S162R		NM_001704.2	NP_001695.1	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	162					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)				ACAAGGTCAGCCCAAGCCAGT	0.368000													5	387					0.00116845	0.00118931	1	1	0
MYH7	4625	broad.mit.edu	37	14	23885218	23885218	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:23885218A>G	ENST00000355349.3	-	34	5110	c.4948T>C	c.(4948-4950)Ttg>Ctg	p.L1650L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1650					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGTACCTTCAACAAGCTCTGG	0.582000													4	275					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:40581529C>T	ENST00000450241.2	-	6	1029	c.718G>A	c.(718-720)Gta>Ata	p.V240I	AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I			O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)					TATGGTTTTACACCAGAATGA	0.388000													7	888					0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060573	16060573	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:16060573G>A	ENST00000322107.1	+	1	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGGTGGTCACGCACTATAGTT	0.517000													15	464					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201436187	201436187	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:201436187G>A	ENST00000357799.4	+	7	1216	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	373					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGTGAAGTCAGCAAAATTGTC	0.338000													4	240					0	0	1	0	0
MYOM2	9172	broad.mit.edu	37	8	2092682	2092682	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:2092682C>T	ENST00000262113.4	+	37	4316	c.4175C>T	c.(4174-4176)tCg>tTg	p.S1392L	MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1392	Ig-like C2-type 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGCACTTCTCGGTGAAGGTG	0.527000													102	101					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163134021	163134021	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:163134021C>A	ENST00000263642.2	-	10	2343	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	650					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						tactcatcatcaccaccctca	0.328000													5	217					0.014758	0.0148448	1	1	0
LRRC27	80313	broad.mit.edu	37	10	134165159	134165159	+	Missense_Mutation	SNP	G	G	A	rs147065829		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:134165159G>A	ENST00000392638.2	+	8	1265	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	LRRC27_ENST00000368610.3_Silent_p.P263P|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000344079.5_Missense_Mutation_p.R357H|LRRC27_ENST00000368615.3_Silent_p.P325P|LRRC27_ENST00000432555.2_Silent_p.P198P|LRRC27_ENST00000368613.4_Silent_p.P325P|LRRC27_ENST00000368614.3_Silent_p.P325P|LRRC27_ENST00000368612.1_Silent_p.P263P			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527000													7	890					0	0	1	0	0
FRG1B	0	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T														p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353000													5	408					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152327376	152327376	+	Silent	SNP	G	G	A	rs34506790		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:152327376G>A	ENST00000388718.5	-	3	2958	c.2886C>T	c.(2884-2886)ggC>ggT	p.G962G	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	962	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)			ATCCATGTTGGCCAAAGCCAG	0.498000													8	1563					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			72	183					0	0	1	0	0
SMC2	10592	broad.mit.edu	37	9	106889705	106889705	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:106889705G>A	ENST00000286398.7	+	20	3022	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	SMC2_ENST00000303219.8_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K|SMC2_ENST00000374787.3_Missense_Mutation_p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	912					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAAATTAAGGAATTAGACCA	0.353000													9	271					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111																		p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328000													5	354					0	0	1	0	0
ACADM	34	broad.mit.edu	37	1	76226969	76226969	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:76226969A>G	ENST00000370841.4	+	11	1545	c.1108A>G	c.(1108-1110)Act>Gct	p.T370A	ACADM_ENST00000541113.1_Missense_Mutation_p.T334A|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000543667.1_Missense_Mutation_p.T181A|ACADM_ENST00000370834.5_Missense_Mutation_p.T403A|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	370					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TCAGTTAGCTACTGATGCTGT	0.393000													119	159					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27078694	27078694	+	Splice_Site	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:27078694C>G	ENST00000261191.7	-	6	1211	c.675_splice	c.e6+1	p.E225_splice	ASUN_ENST00000539625.1_Splice_Site_p.E124_splice	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	225					cell division|mitosis|regulation of mitotic cell cycle		protein binding										CAACACTCACCTCTTTTTTAG	0.348000													57	158					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179578044	179578044	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:179578044G>A	ENST00000589042.1	-	93	27041	c.26817C>T	c.(26815-26817)tcC>tcT	p.S8939S	TTN_ENST00000591111.1_Silent_p.S8622S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.S7695S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8622	Ig-like 72.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGGAGCCGGATAGACCAT	0.393000													3	36					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376404	117376404	+	Silent	SNP	G	G	A	rs140529836	by1000genomes	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:117376404G>A	ENST00000321322.6	-	9	2008	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	DSCAML1_ENST00000527706.1_Silent_p.I399I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	609	Ig-like C2-type 7.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCAGCTGGCCGATGGAGGCGG	0.637000													35	123					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52651382	52651382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651382C>A	ENST00000356770.4	-	13	1620	c.1618G>T	c.(1618-1620)Gag>Tag	p.E540*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E587*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E587*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E572*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E572*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E572*			Q86U86	PB1_HUMAN	polybromo 1	572	Bromo 4.		R -> S (found in a case of clear cell renal carcinoma; somatic mutation).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.E572fs*16(2)|p.E540fs*16(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTTATGCTCAATTATTTTC	0.398000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								5	213					0.000602214	0.000616639	1	1	0
CREB3	10488	broad.mit.edu	37	9	35733435	35733435	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:35733435T>C	ENST00000353704.2	+	4	826	c.388T>C	c.(388-390)Ttg>Ctg	p.L130L	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	154					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		GAAGAGTCTATTGGAGAAGGA	0.468000													47	101					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400728	195400728	+	RNA	SNP	A	A	G	rs12107841	by1000genomes	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324																											GATTGTGCCCAGCCTGTACGC	0.587000													6	30					0	0	1	0	0
METAP1	23173	broad.mit.edu	37	4	99982458	99982458	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:99982458C>T	ENST00000296411.6	+	11	1285	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	NM_015143.2	NP_055958.2	P53582	AMPM1_HUMAN	methionyl aminopeptidase 1	384					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CACTTCATGTCTCAATTTTAA	0.458000													42	225					0	0	1	0	0
PSME4	23198	broad.mit.edu	37	2	54093911	54093911	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:54093911T>C	ENST00000404125.1	-	45	5425	c.5370A>G	c.(5368-5370)gcA>gcG	p.A1790A	PSME4_ENST00000476586.1_5'UTR|PSME4_ENST00000421748.2_Silent_p.A934A	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1790					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTTAGATGTGCACTGAGAT	0.423000													44	74					0	0	1	0	0
TUBB8	347688	broad.mit.edu	37	10	95170	95170	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:95170C>T	ENST00000309812.4	-	1	71	c.9G>A	c.(7-9)gaG>gaA	p.E3E	TUBB8_ENST00000447903.2_Intron|TUBB8_ENST00000413237.3_Intron|TUBB8_ENST00000332708.5_Silent_p.E3E	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	3					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TGAGCACGATCTCCCTCATGG	0.672000													9	23					0	0	1	0	0
ECD	11319	broad.mit.edu	37	10	74912158	74912158	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:74912158A>G	ENST00000372979.4	-	7	1011	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	ECD_ENST00000454759.1_Intron|ECD_ENST00000430082.1_Missense_Mutation_p.Y269H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	269					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AATTGTGCATATAGACATTTA	0.433000													96	179					0	0	1	0	0
LRRC4	64101	broad.mit.edu	37	7	127668984	127668984	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:127668984C>T	ENST00000249363.3	-	2	1967	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	570						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTTCGTCCACCTGGATTATCT	0.562000													37	49					0	0	1	0	0
CORO1B	57175	broad.mit.edu	37	11	67209273	67209273	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:67209273C>G	ENST00000393893.1	-	5	488	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	CORO1B_ENST00000341356.5_Missense_Mutation_p.E129Q|CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	129					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGTGCCCCTCCAGTACCACC	0.667000													45	166					0	0	1	0	0
SLC10A6	345274	broad.mit.edu	37	4	87744851	87744851	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:87744851G>A	ENST00000273905.6	-	6	1271	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	375						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTATTCACATGAAGTGATGTG	0.542000													43	134					0	0	1	0	0
OR5M8	219484	broad.mit.edu	37	11	56258789	56258789	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:56258789G>A	ENST00000327216.2	-	1	82	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGTAATTCCCGGCGACTGGTC	0.478000													117	262					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216737608	216737608	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216737608G>A	ENST00000391890.3	-	7	1284	c.767C>T	c.(766-768)gCc>gTc	p.A256V	ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A272V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	272					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.A272V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTCTCGGTCGGCCAAGTCACA	0.463000													6	473					0	0	1	0	0
EPHB2	2048	broad.mit.edu	37	1	23240039	23240039	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:23240039C>T	ENST00000400191.3	+	16	2955	c.2937C>T	c.(2935-2937)aaC>aaT	p.N979N	EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.N979N|EPHB2_ENST00000374632.3_Silent_p.N980N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	979					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGCAGATGAACCAGATTCAGT	0.587000													50	69					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73830223	73830223	+	Silent	SNP	C	C	T	rs144427126		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:73830223C>T	ENST00000342056.2	+	8	1541	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	KCNQ5_ENST00000370398.1_Silent_p.Y381Y|KCNQ5_ENST00000402622.2_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000355635.3_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000370392.1_Silent_p.Y381Y	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	381					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GGCGTAGTTACGCAGCTGATG	0.428000													14	183					0	0	1	0	0
PDLIM5	10611	broad.mit.edu	37	4	95444888	95444888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:95444888G>A	ENST00000317968.4	+	3	246	c.110G>A	c.(109-111)gGc>gAc	p.G37D	PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D|PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448.4	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	37	PDZ.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAAGATGGCGGCAAGGCAGCC	0.348000													5	165					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53960395	53960395	+	RNA	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53960395G>A	ENST00000454407.1	+	0	3087							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCAATCCATGGTGTAGGGAAA	0.413000													27	89					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141243054	141243054	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:141243054C>T	ENST00000389484.3	-	59	10254	c.9283G>A	c.(9283-9285)Gat>Aat	p.D3095N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3095					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)		CCAATCCAATCGACAGCAAGT	0.373000										TSP Lung(27;0.18)			5	359					0	0	1	0	0
BOC	91653	broad.mit.edu	37	3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000355385.3_Missense_Mutation_p.P1062S|BOC_ENST00000273395.4_Missense_Mutation_p.P1063S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					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)			GGGCCTTGTGCCAGTTGAAGA	0.577000													6	648					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	114990659	114990659	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:114990659C>T	ENST00000334318.6	-	12	1427		c.e12+1		PTBP3_ENST00000458258.1_Splice_Site|PTBP3_ENST00000374255.2_Splice_Site|PTBP3_ENST00000374257.1_Splice_Site|PTBP3_ENST00000343327.2_Splice_Site	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3						anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										atCATTAGTACCTAGCTGAGC	0.323000													8	238					0	0	1	0	0
RPSA	3921	broad.mit.edu	37	3	39453425	39453425	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:39453425G>A	ENST00000301821.6	+	6	775	c.666G>A	c.(664-666)gtG>gtA	p.V222V	RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.V227V	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	P08865	RSSA_HUMAN	ribosomal protein SA	222	Laminin-binding.				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAGGCAGTGACCAAGGAGG	0.488000													16	172					0	0	1	0	0
ANKRD44	91526	broad.mit.edu	37	2	197943459	197943459	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:197943459C>T	ENST00000328737.2	-	16	1619	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	540							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATAGGCGGCAGCATAATGT	0.408000													4	138					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106178	27106178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:27106178delC	ENST00000324856.7	+	20	6160	c.5789delC	c.(5788-5790)tafs	p.S1930fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1713fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1930					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTAAGAGTTCAGAGGCCATC	0.522			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								155	178	---	---	---	---					
LINGO4	339398	broad.mit.edu	37	1	151773603	151773603	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:151773603delA	ENST00000368820.3	-	2	2515	c.1578delT	c.(1576-1578)ttfs	p.F526fs		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	526						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGCTATCCAGAAAAAAAGGCC	0.582													7	1023	---	---	---	---					
APOB	338	broad.mit.edu	37	2	21228602	21228602	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:21228602delT	ENST00000233242.1	-	26	11265	c.11138delA	c.(11137-11139)acfs	p.N3713fs		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	3713					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)	GCCATTGGGGTTTTTGGTGTA	0.398													7	501	---	---	---	---					
RMDN2	151393	broad.mit.edu	37	2	38178783	38178783	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:38178783delT	ENST00000407257.1	+	2	572	c.425delT	c.(424-426)atfs	p.I142fs	RMDN2_ENST00000406384.1_Intron|RMDN2_ENST00000402091.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000354545.2_Intron|RMDN2_ENST00000234195.3_Frame_Shift_Del_p.I142fs|RMDN2_ENST00000417700.2_Intron|RMDN2-AS1_ENST00000414365.2_RNA					regulator of microtubule dynamics 2																		AAGAGTGCCATTTTTTTTGAT	0.333													8	323	---	---	---	---					
MST1	4485	broad.mit.edu	37	3	49723322	49723327	+	In_Frame_Del	DEL	GCGCTG	GCGCTG	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:49723322_49723327delGCGCTG	ENST00000449682.2	-	10	1577_1582	c.1216_1221delCAGCGC	c.(1216-1221)del	p.QR406del	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	392	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGGACCAGCGCTGGCACTGGACA	0.704													11	346	---	---	---	---					
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)cat>ca	p.HH931del		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	931	Poly-His.					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502													9	592	---	---	---	---					
NPNT	255743	broad.mit.edu	37	4	106863682	106863684	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:106863682_106863684delCCA	ENST00000379987.2	+	8	1198_1200	c.982_984delCCA	c.(982-984)del	p.P333del	NPNT_ENST00000427316.2_In_Frame_Del_p.P363del|NPNT_ENST00000514622.1_In_Frame_Del_p.P333del|NPNT_ENST00000305572.8_In_Frame_Del_p.P333del|NPNT_ENST00000506666.1_In_Frame_Del_p.P363del|NPNT_ENST00000453617.2_In_Frame_Del_p.P350del	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	333	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AATTCCTACTCCACCACCACCAC	0.522													10	322	---	---	---	---					
SLC17A2	10246	broad.mit.edu	37	6	25921520	25921520	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:25921520delT	ENST00000377850.3	-	4	885	c.361delA	c.(361-363)tgfs	p.M121fs	SLC17A2_ENST00000360488.3_Frame_Shift_Del_p.M121fs|SLC17A2_ENST00000265425.3_Frame_Shift_Del_p.M121fs			O00624	NPT3_HUMAN	solute carrier family 17, member 2	121					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.M121fs*7(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GCACCAAGCATTTTTTTTGCT	0.453													8	364	---	---	---	---					
PPP1R18	170954	broad.mit.edu	37	6	30653494	30653496	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:30653494_30653496delTGC	ENST00000274853.3	-	1	2176_2178	c.300_302delGCA	c.(298-303)caa>ca	p.QQ102del	PPP1R18_ENST00000488324.1_Intron|PPP1R18_ENST00000399199.3_In_Frame_Del_p.QQ102del	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													9	191	---	---	---	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:89891719_89891721delAAG	ENST00000435811.1	-	7	1255_1257	c.801_803delCTT	c.(799-804)ttg>tt	p.FL267del	GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	284					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			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													10	374	---	---	---	---					
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agt>ag	p.SS745del	EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000392427.3_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562													7	273	---	---	---	---					
CARD11	84433	broad.mit.edu	37	7	2963941	2963943	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:2963941_2963943delGGA	ENST00000396946.4	-	15	2267_2269	c.1864_1866delTCC	c.(1864-1866)del	p.S622del		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	622					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)		CGGATTGGTGGGAGGAGGAGGAG	0.616			Mis		DLBCL								7	171	---	---	---	---					
SDK1	221935	broad.mit.edu	37	7	3991368	3991378	+	Frame_Shift_Del	DEL	GGAGGACCTGA	GGAGGACCTGA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:3991368_3991378delGGAGGACCTGA	ENST00000404826.2	+	7	1105_1115	c.966_976delGGAGGACCTGA	c.(964-978)gtgtfs	p.VEDLS322fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.VEDLS322fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	322	Ig-like C2-type 3.				cell adhesion	integral to membrane		p.V322V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAGGCCTGTGGAGGACCTGAGTGTGACCTG	0.583													50	168	---	---	---	---					
OSBPL3	26031	broad.mit.edu	37	7	24910452	24910453	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:24910452_24910453delTC	ENST00000313367.2	-	5	730_731	c.279_280delGA	c.(277-282)gaagfs	p.EK93fs	OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	93	PH.				lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						CCATGCAGCTTCTCTCTCTCTA	0.500													7	345	---	---	---	---					
PMS2P3	0	broad.mit.edu	37	7	75145720	75145721	+	RNA	DEL	AT	AT	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:75145720_75145721delAT	ENST00000418756.1	-	0	618					NR_028059.1															lung(1)	1						TCCTTTGGGGatatatatatat	0.302													5	9	---	---	---	---					
TMEM229A	730130	broad.mit.edu	37	7	123672457	123672462	+	In_Frame_Del	DEL	GCTGCT	GCTGCT	-	rs72310362		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:123672457_123672462delGCTGCT	ENST00000455783.1	-	1	1061_1066	c.596_601delAGCAGC	c.(595-603)cgg>c	p.QQR199del	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	199						host cell nucleus|integral to membrane	sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(3)	6						GCGCCCCTCCgctgctgctgctgctg	0.757													3	4	---	---	---	---					
ZNF800	168850	broad.mit.edu	37	7	127015056	127015057	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:127015056_127015057insT	ENST00000393313.1	-	5	924_925	c.333_334insA	c.(331-336)caccatfs	p.HH111fs	ZNF800_ENST00000393312.1_Frame_Shift_Ins_p.HH111fs|ZNF800_ENST00000265827.3_Frame_Shift_Ins_p.HH111fs			Q2TB10	ZN800_HUMAN	zinc finger protein 800	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TCATTTATGGCTTGGCTTTGTT	0.327											OREG0003806	type=REGULATORY REGION|Gene=BC037348|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	348	---	---	---	---					
RABL6	55684	broad.mit.edu	37	9	139734633	139734635	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:139734633_139734635delAGA	ENST00000371675.3	+	14	2498_2500	c.1613_1615delAGA	c.(1612-1617)gag>g	p.EK538del	RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_In_Frame_Del_p.EK654del|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_In_Frame_Del_p.EK653del					RAB, member RAS oncogene family-like 6																		CCCTCTaaggagaagaagaagaa	0.571													12	237	---	---	---	---					
HSD17B7P2	0	broad.mit.edu	37	10	38647619	38647619	+	RNA	DEL	T	T	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:38647619delT	ENST00000494540.1	+	0	314					NR_003086.1																						tctttctttcttttttttttt	0.438													2	4	---	---	---	---					
TM9SF3	56889	broad.mit.edu	37	10	98336475	98336475	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:98336475delT	ENST00000371142.4	-	2	430	c.214delA	c.(214-216)gtfs	p.S72fs		NM_020123.3	NP_064508.3	Q9HD45	TM9S3_HUMAN	transmembrane 9 superfamily member 3	72						integral to membrane	binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1)	15		Colorectal(252;0.158)		Epithelial(162;1.84e-09)|all cancers(201;2.84e-08)		TGACTGATACTTTTTTTTGAC	0.363													10	456	---	---	---	---					
CPXM2	119587	broad.mit.edu	37	10	125528165	125528167	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:125528165_125528167delCAG	ENST00000241305.3	-	9	1328_1330	c.1174_1176delCTG	c.(1174-1176)del	p.L392del	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	392	Poly-Leu.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CGAACTGCACCAGCAGCAGCAGC	0.626													8	620	---	---	---	---					
OVCH2	341277	broad.mit.edu	37	11	7723984	7723985	+	RNA	DEL	GT	GT	-	rs138638311		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:7723984_7723985delGT	ENST00000454689.1	-	0	290				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		ATAATATGGGGTGTGAGGCTGC	0.381													3	5	---	---	---	---					
ITPR2	3709	broad.mit.edu	37	12	26809320	26809321	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:26809320_26809321insT	ENST00000381340.3	-	19	2769_2770	c.2353_2354insA	c.(2353-2355)gcafs	p.A785fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	785					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GTCAACGTGCATGTGGAGCATG	0.554													105	204	---	---	---	---					
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tac>ta	p.YF102del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414													9	727	---	---	---	---					
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:122812690_122812691insT	ENST00000358808.2	-	16	3173_3174	c.3019_3020insA	c.(3019-3021)ccafs	p.P1007fs	CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505													8	531	---	---	---	---					
IRF9	10379	broad.mit.edu	37	14	24633132	24633134	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:24633132_24633134delAGC	ENST00000396864.3	+	5	828_830	c.541_543delAGC	c.(541-543)del	p.S187del	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_In_Frame_Del_p.S85del	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	187	Poly-Ser.				interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AGACATTGGGagcagcagcagca	0.567													10	247	---	---	---	---					
NYNRIN	57523	broad.mit.edu	37	14	24868592	24868593	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:24868592_24868593delAC	ENST00000382554.3	+	2	458_459	c.140_141delAC	c.(139-141)gfs	p.D47fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	47					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCCGCCCGGACACCCCCTACT	0.604													18	64	---	---	---	---					
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)del	p.A856del	BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.									breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537													11	289	---	---	---	---					
DDX24	57062	broad.mit.edu	37	14	94545821	94545823	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:94545821_94545823delCCT	ENST00000330836.5	-	2	397_399	c.266_268delAGG	c.(265-270)gga>g	p.EG89del	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_In_Frame_Del_p.EG46del	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	89	Poly-Glu.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTAGACTTTCCCTCCTCCTCCTC	0.443													9	616	---	---	---	---					
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:69328208_69328210delCTG	ENST00000260364.5	+	8	1367_1369	c.1066_1068delCTG	c.(1066-1068)del	p.L362del	NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626													9	771	---	---	---	---					
LRRC36	55282	broad.mit.edu	37	16	67409201	67409201	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:67409201delC	ENST00000329956.6	+	10	1565	c.1546delC	c.(1546-1548)ccfs	p.P517fs	LRRC36_ENST00000290940.7_Frame_Shift_Del_p.P249fs|LRRC36_ENST00000541146.1_Frame_Shift_Del_p.V36fs|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000563189.1_Frame_Shift_Del_p.P396fs	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	517										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		AAACCACAGTCCCCCCATCTC	0.512													7	1522	---	---	---	---					
KDM6B	23135	broad.mit.edu	37	17	7751859	7751861	+	In_Frame_Del	DEL	CAC	CAC	-	rs59627144		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:7751859_7751861delCAC	ENST00000254846.5	+	11	2642_2644	c.2253_2255delCAC	c.(2251-2256)gtc>gt	p.VT751del	KDM6B_ENST00000448097.2_In_Frame_Del_p.VT751del	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	751	Pro-rich.|Thr-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CTGTCGCCGTcaccaccaccacc	0.650													8	120	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27957892	27957892	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:27957892delT	ENST00000269033.3	-	15	4390	c.4239delA	c.(4237-4239)aafs	p.K1413fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Del_p.K1440fs	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	1413					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						TGGTTGTCCGTTTTTTGTCAT	0.488													7	1004	---	---	---	---					
RP11-798G7.5	0	broad.mit.edu	37	17	43596433	43596433	+	RNA	DEL	T	T	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:43596433delT	ENST00000253803.2	+	0	267																											TTTTTGCCGGTTTTGGCCTAC	0.478													7	2436	---	---	---	---					
BPTF	2186	broad.mit.edu	37	17	65899951	65899951	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:65899951delA	ENST00000321892.4	+	10	3029	c.2968delA	c.(2968-2970)aafs	p.K992fs	BPTF_ENST00000424123.3_Frame_Shift_Del_p.K853fs|BPTF_ENST00000335221.5_Frame_Shift_Del_p.K992fs|BPTF_ENST00000306378.6_Frame_Shift_Del_p.K866fs			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	992					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ggagaaagtcaaaaaaaaaga	0.338													7	238	---	---	---	---					
ABCA5	23461	broad.mit.edu	37	17	67302911	67302912	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:67302911_67302912insT	ENST00000392676.3	-	6	806_807	c.742_743insA	c.(742-744)aaafs	p.K248fs	ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.K248fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.K248fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	248					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	p.I248L(1)|p.I248fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					AAATTCTTTTATTTTTTTTTCT	0.243													7	167	---	---	---	---					
RAB12	201475	broad.mit.edu	37	18	8636248	8636249	+	Splice_Site	DEL	CA	CA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:8636248_8636249delCA	ENST00000329286.6	+	5	799		c.e5-1		RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family						protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						TGTTTCTTCTCAGTTTGCACAG	0.495													57	117	---	---	---	---					
SMAD4	4089	broad.mit.edu	37	18	48575215	48575216	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr18:48575215_48575216insT	ENST00000342988.3	+	3	947_948	c.409_410insT	c.(409-411)atcfs	p.I137fs	SMAD4_ENST00000452201.2_Frame_Shift_Ins_p.I137fs|SMAD4_ENST00000398417.2_Frame_Shift_Ins_p.I137fs|SMAD4_ENST00000588745.1_Frame_Shift_Ins_p.I137fs|RP11-729L2.2_ENST00000590722.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	137	MH1.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(4)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGAACGAGTTGTATCACCTGGA	0.307													100	82	---	---	---	---					
CTD-2666L21.1	0	broad.mit.edu	37	19	12305886	12305886	+	RNA	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:12305886delC	ENST00000426044.1	+	0	55																											ATATCTCCCGCTACGCGCGTT	0.602													6	7	---	---	---	---					
SUGP2	10147	broad.mit.edu	37	19	19136394	19136394	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:19136394delT	ENST00000601879.1	-	3	1060	c.763delA	c.(763-765)tafs	p.I255fs	SUGP2_ENST00000456085.2_Intron|SUGP2_ENST00000337018.6_Frame_Shift_Del_p.I255fs|SUGP2_ENST00000600377.1_Frame_Shift_Del_p.I269fs|SUGP2_ENST00000598202.1_5'UTR|SUGP2_ENST00000452918.2_Frame_Shift_Del_p.I255fs			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	255					mRNA processing|RNA splicing	nucleus	RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ACGGTGGGTATTTTTTTTGTG	0.502													10	588	---	---	---	---					
CEACAM5	1048	broad.mit.edu	37	19	42224866	42224866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:42224866delC	ENST00000221992.6	+	8	1910	c.1796delC	c.(1795-1797)tcfs	p.S599fs	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Del_p.S599fs|CEACAM5_ENST00000398599.4_Frame_Shift_Del_p.S598fs	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	599	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCATCATTTCCCCCCCAGAC	0.547													7	739	---	---	---	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)del	p.L394del	FUZ_ENST00000445575.2_Intron|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													10	168	---	---	---	---					
SAMSN1	64092	broad.mit.edu	37	21	15889230	15889230	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:15889230delC	ENST00000285670.2	-	4	640	c.466delG	c.(466-468)ccfs	p.A156fs	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Frame_Shift_Del_p.A88fs	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	88					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)		TCAGAAAGGGCTTTGATGTAC	0.318													37	170	---	---	---	---					
PRDM15	63977	broad.mit.edu	37	21	43221415	43221417	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:43221415_43221417delCTG	ENST00000422911.1	-	25	3681_3683	c.3580_3582delCAG	c.(3580-3582)del	p.Q1194del	PRDM15_ENST00000269844.3_In_Frame_Del_p.Q1503del|PRDM15_ENST00000398548.1_In_Frame_Del_p.Q1174del|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000447207.2_In_Frame_Del_p.Q1137del|PRDM15_ENST00000538201.1_In_Frame_Del_p.Q1157del			P57071	PRD15_HUMAN	PR domain containing 15	1503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						AGCTGTACATCTGCTGCTGCTGC	0.611													10	420	---	---	---	---