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
CNOT3	4849	broad.mit.edu	37	19	54646887	54646887	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:54646887G>A	ENST00000406403.1	+	2	1661	c.58G>A	c.(58-60)Gag>Aag	p.E20K	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E20K			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	20					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	p.E20K(6)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAAGGTGTCCGAGGGCGTGGA	0.557000													28	158					0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52437805	52437805	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:52437805G>C	ENST00000460680.1	-	13	1827	c.1356C>G	c.(1354-1356)ctC>ctG	p.L452L	BAP1_ENST00000296288.5_Silent_p.L434L	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	452					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GGGACTCTTTGAGCTTCTCAG	0.592000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							18	72					0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716593	142716593	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:142716593C>G	ENST00000381779.4	-	2	2557	c.2332G>C	c.(2332-2334)Gag>Cag	p.E778Q	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E778Q|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E778Q	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	778						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TAGCGGATCTCAAAGCCACTG	0.383000													27	71					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160854638	160854638	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:160854638G>A	ENST00000326245.3	-	2	145	c.30C>T	c.(28-30)ctC>ctT	p.L10L		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	10					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGGTCGCTATGAGAAACAGCA	0.512000													33	190					0	0	1	0	0
RBM14	10432	broad.mit.edu	37	11	66384488	66384488	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:66384488C>G	ENST00000310137.4	+	1	436	c.297C>G	c.(295-297)ttC>ttG	p.F99L	RBM4_ENST00000503028.2_5'UTR|RBM14_ENST00000393979.3_Missense_Mutation_p.F99L|RBM14-RBM4_ENST00000511114.1_3'UTR|RBM14_ENST00000409738.4_Missense_Mutation_p.F99L|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.F99L|RBM14_ENST00000443702.1_Missense_Mutation_p.F99L|RBM14-RBM4_ENST00000500635.2_Missense_Mutation_p.F99L|RBM14_ENST00000409372.1_Missense_Mutation_p.F99L|RBM4_ENST00000514361.3_Missense_Mutation_p.F99L	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	99	RRM 2.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCTCTTCGAGCGCCGCG	0.642000													12	105					0	0	1	0	0
CACNG4	27092	broad.mit.edu	37	17	64961105	64961105	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:64961105C>T	ENST00000262138.3	+	1	80	c.78C>T	c.(76-78)atC>atT	p.I26I		NM_014405.3	NP_055220.1	Q9UBN1	CCG4_HUMAN	calcium channel, voltage-dependent, gamma subunit 4	26					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane	voltage-gated calcium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(3)	19	all_cancers(12;9.86e-11)		BRCA - Breast invasive adenocarcinoma(6;1.35e-07)			TCATGGCCATCGCCATCGGCA	0.711000													12	25					0	0	1	0	0
TNFRSF8	943	broad.mit.edu	37	1	12195644	12195644	+	Splice_Site	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:12195644G>C	ENST00000263932.2	+	13	1531		c.e13-1		TNFRSF8_ENST00000413146.2_Splice_Site|TNFRSF8_ENST00000417814.2_Splice_Site|TNFRSF8_ENST00000479933.2_Splice_Site	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8						cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GCTTTTTGCAGATTCCAGACC	0.572000													5	37					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108211377	108211377	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:108211377G>C	ENST00000273353.3	-	10	957	c.901C>G	c.(901-903)Caa>Gaa	p.Q301E		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	301	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GATAGAATTTGATAGAATATG	0.363000													10	41					0	0	1	0	0
SBDS	51119	broad.mit.edu	37	7	66458288	66458288	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:66458288C>G	ENST00000246868.2	-	3	558	c.375G>C	c.(373-375)aaG>aaC	p.K125N		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	125					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TGTATGGTCTCTTTGTTTCAG	0.413000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome				45	250					0	0	1	0	0
CXCL8	3576	broad.mit.edu	37	4	74607387	74607387	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:74607387G>A	ENST00000307407.3	+	2	346	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	IL8_ENST00000401931.1_Missense_Mutation_p.E65K	NM_000584.3	NP_000575.1	P10145	IL8_HUMAN	interleukin 8	65					angiogenesis|calcium-mediated signaling|cell cycle arrest|cellular response to lipopolysaccharide|embryonic digestive tract development|G-protein coupled receptor protein signaling pathway|immune response|induction of positive chemotaxis|inflammatory response|negative regulation of cell proliferation|neutrophil activation|neutrophil chemotaxis|positive regulation of neutrophil chemotaxis|regulation of cell adhesion|regulation of retroviral genome replication	extracellular space|intracellular	chemokine activity|interleukin-8 receptor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	6	Breast(15;0.00102)		all cancers(17;0.00169)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)	LUSC - Lung squamous cell carcinoma(721;0.008)	Ketoprofen(DB01009)|Salbutamol(DB01001)|Simvastatin(DB00641)|Zileuton(DB00744)	CGCCAACACAGAAATTATGTA	0.343000													6	59					0	0	1	0	0
ATXN7L1	222255	broad.mit.edu	37	7	105516981	105516981	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:105516981G>C	ENST00000419735.3	-	1	69	c.24C>G	c.(22-24)atC>atG	p.I8M	ATXN7L1_ENST00000318724.4_Missense_Mutation_p.I8M	NM_020725.1	NP_065776.1	Q9ULK2	AT7L1_HUMAN	ataxin 7-like 1	8										endometrium(1)|large_intestine(4)|lung(5)	10						AGAGACACGGGATTCGAGAAC	0.597000													8	64					0	0	1	0	0
NKX2-2	4821	broad.mit.edu	37	20	21494205	21494205	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:21494205C>G	ENST00000377142.4	-	1	459	c.103G>C	c.(103-105)Gag>Cag	p.E35Q		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	35					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCCTCGTTCTCTTCCTCCGGA	0.652000													13	48					0	0	1	0	0
CHD5	26038	broad.mit.edu	37	1	6208929	6208929	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:6208929G>A	ENST00000262450.3	-	9	1467	c.1368C>T	c.(1366-1368)ctC>ctT	p.L456L	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	456	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCGCGGGCAGAGCCATTCAC	0.721000													5	53					0	0	1	0	0
NEDD4	4734	broad.mit.edu	37	15	56208209	56208209	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:56208209G>C	ENST00000508342.1	-	1	1120	c.821C>G	c.(820-822)tCa>tGa	p.S274*	NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000506154.1_Nonsense_Mutation_p.S274*|NEDD4_ENST00000338963.2_Nonsense_Mutation_p.S274*	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	274					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCGGGTAGTTGAAGGACTCCT	0.398000													19	102					0	0	1	0	0
RAD51B	5890	broad.mit.edu	37	14	68353838	68353838	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:68353838C>G	ENST00000487270.1	+	7	721	c.673C>G	c.(673-675)Caa>Gaa	p.Q225E	RAD51B_ENST00000471583.1_Missense_Mutation_p.Q225E|RAD51B_ENST00000390683.3_Missense_Mutation_p.Q225E|RAD51B_ENST00000487861.1_Missense_Mutation_p.Q225E|RAD51B_ENST00000488612.1_Missense_Mutation_p.Q225E	NM_133509.3	NP_598193.2	O15315	RA51B_HUMAN	RAD51 paralog B	225					blood coagulation|DNA repair|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						TGCACAACTTCAAGGCAATCT	0.368000								Direct reversal of damage					26	103					0	0	1	0	0
GEMIN8	54960	broad.mit.edu	37	X	14038306	14038306	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:14038306C>G	ENST00000380523.4	-	4	681	c.363G>C	c.(361-363)gaG>gaC	p.E121D	GEMIN8_ENST00000460203.1_5'UTR|GEMIN8_ENST00000398355.3_Missense_Mutation_p.E121D	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	121					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CAGTCTCCATCTCTTCCTCTT	0.483000													39	88					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74884062	74884062	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:74884062G>A	ENST00000346246.5	+	7	1558	c.1327G>A	c.(1327-1329)Gag>Aag	p.E443K		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	443	REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GAGGCTGTCTGAGGAGGAGCA	0.647000													5	21					0	0	1	0	0
WARS	7453	broad.mit.edu	37	14	100828117	100828117	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:100828117C>T	ENST00000355338.2	-	3	859	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	WARS_ENST00000392882.2_Missense_Mutation_p.E81K|WARS_ENST00000554084.1_5'UTR|WARS_ENST00000556645.1_Missense_Mutation_p.E40K|WARS_ENST00000557135.1_Missense_Mutation_p.E81K|WARS_ENST00000344102.5_Missense_Mutation_p.E40K|WARS_ENST00000358655.4_Missense_Mutation_p.E40K	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	81					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	AAATCCTCTTCAGCTTCTGTG	0.507000													28	184					0	0	1	0	0
HNRNPDL	9987	broad.mit.edu	37	4	83349499	83349499	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:83349499C>G	ENST00000295470.5	-	2	719	c.544G>C	c.(544-546)Gat>Cat	p.D182H	HNRNPDL_ENST00000349655.4_Missense_Mutation_p.D63H|HNRNPDL_ENST00000602300.1_Missense_Mutation_p.D63H|HNRNPDL_ENST00000502762.1_Missense_Mutation_p.D182H|HNRNPDL_ENST00000514511.1_Intron	NM_001207000.1|NM_031372.3	NP_001193929.1|NP_112740.1			heterogeneous nuclear ribonucleoprotein D-like																		GTGACTGGATCTGTTTTAATT	0.393000													17	94					0	0	1	0	0
DUSP19	142679	broad.mit.edu	37	2	183948270	183948270	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:183948270G>A	ENST00000354221.4	+	2	436	c.261G>A	c.(259-261)ctG>ctA	p.L87L	AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000469344.1_3'UTR|DUSP19_ENST00000342619.6_Silent_p.L87L	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19	87					JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|positive regulation of JNK cascade|positive regulation of JUN kinase activity	cytoplasm	JUN kinase phosphatase activity|MAP-kinase scaffold activity|mitogen-activated protein kinase kinase kinase binding|protein kinase activator activity|protein kinase inhibitor activity|protein tyrosine phosphatase activity			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						TGGATACACTGAAAAAGAATA	0.294000													10	54					0	0	1	0	0
DOCK8	81704	broad.mit.edu	37	9	452115	452115	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:452115G>A	ENST00000432829.2	+	46	6178	c.5862G>A	c.(5860-5862)atG>atA	p.M1954I	DOCK8_ENST00000382329.1_Missense_Mutation_p.M1489I|DOCK8_ENST00000453981.1_Missense_Mutation_p.M2022I|DOCK8_ENST00000469391.1_Missense_Mutation_p.M1922I	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2022					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AATTCATCATGAGGTAAGAAG	0.423000													3	30					0	0	1	0	0
EOGT	285203	broad.mit.edu	37	3	69028848	69028848	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:69028848G>C	ENST00000383701.3	-	16	2047	c.1305C>G	c.(1303-1305)ttC>ttG	p.F435L	EOGT_ENST00000540955.1_Missense_Mutation_p.F159L|EOGT_ENST00000295571.5_Missense_Mutation_p.F351L|EOGT_ENST00000540764.1_Missense_Mutation_p.F334L	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		AGTCTGGAAGGAAAAGTAAAT	0.403000													15	63					0	0	1	0	0
NOC4L	79050	broad.mit.edu	37	12	132632648	132632648	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:132632648G>A	ENST00000330579.1	+	7	776	c.735G>A	c.(733-735)ctG>ctA	p.L245L	NOC4L_ENST00000535343.1_3'UTR	NM_024078.1	NP_076983.1	Q9BVI4	NOC4L_HUMAN	nucleolar complex associated 4 homolog (S. cerevisiae)	245					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		TTGCTCACCTGAAGGTGAGTT	0.642000													7	28					0	0	1	0	0
LRP6	4040	broad.mit.edu	37	12	12279758	12279758	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:12279758G>C	ENST00000261349.4	-	20	4255	c.4179C>G	c.(4177-4179)atC>atG	p.I1393M	LRP6_ENST00000540415.1_Intron|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000543091.1_Missense_Mutation_p.I1348M	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1393					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCTCTGGCAGATAAAGTATA	0.448000													12	86					0	0	1	0	0
GPR45	11250	broad.mit.edu	37	2	105858706	105858706	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:105858706G>C	ENST00000258456.1	+	1	507	c.391G>C	c.(391-393)Gac>Cac	p.D131H		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	131						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CATCAGCGTGGACCGCTTCCT	0.627000													7	45					0	0	1	0	0
EDNRB	1910	broad.mit.edu	37	13	78492556	78492556	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:78492556C>G	ENST00000377211.4	-	2	575	c.423G>C	c.(421-423)aaG>aaC	p.K141N	EDNRB_ENST00000446573.1_Missense_Mutation_p.K51N|EDNRB_ENST00000334286.5_Missense_Mutation_p.K51N|EDNRB_ENST00000475537.1_5'UTR	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	51					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	GCCATAAGGTCTTAGTGGGTG	0.632000													12	62					0	0	1	0	0
ZNF446	55663	broad.mit.edu	37	19	58989021	58989021	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:58989021G>C	ENST00000596341.1	+	3	2580	c.360G>C	c.(358-360)ctG>ctC	p.L120L	ZNF446_ENST00000335841.4_Silent_p.L120L|ZNF446_ENST00000594369.1_Silent_p.L120L			Q9NWS9	ZN446_HUMAN	zinc finger protein 446	120					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCATGTCCTGAAGCAGGAGG	0.612000													11	72					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17913957	17913957	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:17913957G>C	ENST00000361221.3	+	3	199	c.40G>C	c.(40-42)Gat>Cat	p.D14H	ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D14H|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D14H|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D14H	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	14					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TCTTCCAGGAGATCAGCTGGT	0.582000													4	44					0	0	1	0	0
TNFRSF17	608	broad.mit.edu	37	16	12059215	12059215	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:12059215G>C	ENST00000053243.1	+	1	252	c.34G>C	c.(34-36)Gaa>Caa	p.E12Q	TNFRSF17_ENST00000396495.3_Missense_Mutation_p.E12Q|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	12					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CTCCCAAAATGAATATTTTGA	0.398000			T	IL2	intestinal T-cell lymphoma								37	206					0	0	1	0	0
TRPC4AP	26133	broad.mit.edu	37	20	33596513	33596513	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:33596513G>A	ENST00000252015.2	-	13	1638	c.1549C>T	c.(1549-1551)Cgt>Tgt	p.R517C	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.R478C|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R509C|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.R119C			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	517					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGCAGCAGACGAGTTAATAAG	0.537000													14	106					0	0	1	0	0
CUL5	8065	broad.mit.edu	37	11	107965541	107965541	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:107965541G>A	ENST00000393094.2	+	15	2186	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	524					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTCTATAGCTGATTCAGTTAA	0.333000													11	61					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113504727	113504727	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:113504727T>A	ENST00000297405.5	-	31	5513	c.5269A>T	c.(5269-5271)Agt>Tgt	p.S1757C	CSMD3_ENST00000352409.3_Missense_Mutation_p.S1757C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S1653C|CSMD3_ENST00000343508.3_Missense_Mutation_p.S1717C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1757	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCATGACAACTTGGCAAGGCT	0.348000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			13	67					0	0	1	0	0
KIAA1109	84162	broad.mit.edu	37	4	123249265	123249265	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:123249265G>A	ENST00000264501.4	+	66	11375	c.11002G>A	c.(11002-11004)Gag>Aag	p.E3668K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3668K			Q2LD37	K1109_HUMAN	KIAA1109	3668					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCAGTTTCCAGAGGAGACAGA	0.299000													5	48					0	0	1	0	0
ITGB3BP	23421	broad.mit.edu	37	1	63974204	63974204	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:63974204C>T	ENST00000371092.3	-	3	220	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	ITGB3BP_ENST00000271002.10_Missense_Mutation_p.E15K|ITGB3BP_ENST00000283568.8_Missense_Mutation_p.E15K	NM_001206739.1	NP_001193668.1	Q13352	CENPR_HUMAN	integrin beta 3 binding protein (beta3-endonexin)	15					apoptosis|cell adhesion|CenH3-containing nucleosome assembly at centromere|induction of apoptosis by extracellular signals|mitotic prometaphase|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome, centromeric region|cytosol|membrane fraction|nucleoplasm	protein C-terminus binding|signal transducer activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9						CTTACATTTTCTTCTAACAGA	0.249000													9	50					0	0	1	0	0
RBP3	5949	broad.mit.edu	37	10	48388817	48388817	+	Silent	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:48388817T>A	ENST00000224600.4	-	1	2174	c.2061A>T	c.(2059-2061)acA>acT	p.T687T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	687	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGAGGTCTGCTGTGAGCTGAG	0.667000													11	56					0	0	1	0	0
ATXN7L3	56970	broad.mit.edu	37	17	42275038	42275038	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:42275038C>T	ENST00000389384.4	-	2	420	c.112G>A	c.(112-114)Gag>Aag	p.E38K	ATXN7L3_ENST00000593073.1_Intron|ATXN7L3_ENST00000454077.2_Missense_Mutation_p.E38K	NM_001098833.1	NP_001092303.1	Q14CW9	AT7L3_HUMAN	ataxin 7-like 3	38					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|metal ion binding|protein binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CGGTGTACCTCAAAGCAGAAT	0.542000													18	132					0	0	1	0	0
RECQL4	9401	broad.mit.edu	37	8	145738304	145738304	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:145738304C>G	ENST00000428558.2	-	16	2722	c.2681G>C	c.(2680-2682)aGa>aCa	p.R894T	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	894					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCAGACCCTTCTGGGTCCTGG	0.642000			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				3	9					0	0	1	0	0
WNK4	65266	broad.mit.edu	37	17	40937119	40937119	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:40937119G>A	ENST00000246914.5	+	5	1196	c.1175G>A	c.(1174-1176)aGa>aAa	p.R392K		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	392	Protein kinase.				intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCCAGGGCAGAAAGCCGAAC	0.592000													6	12					0	0	1	0	0
TAS2R19	259294	broad.mit.edu	37	12	11175081	11175081	+	Silent	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:11175081T>A	ENST00000390673.2	-	1	138	c.90A>T	c.(88-90)gtA>gtT	p.V30V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	30					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAATGACATTTACTAGGGCTA	0.408000													4	85					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47639622	47639622	+	Nonsense_Mutation	SNP	C	C	T	rs63750488		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:47639622C>T	ENST00000406134.1	+	4	777	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	MSH2_ENST00000233146.2_Nonsense_Mutation_p.Q239*|MSH2_ENST00000543555.1_Nonsense_Mutation_p.Q173*			P43246	MSH2_HUMAN	mutS homolog 2	239					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGACATTTATCAGGACCTCAA	0.343000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				6	45					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242038916	242038916	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:242038916C>T	ENST00000391980.2	-	2	473	c.415G>A	c.(415-417)Gag>Aag	p.E139K	MTERFD2_ENST00000407095.3_Missense_Mutation_p.E139K|MTERFD2_ENST00000495694.1_Missense_Mutation_p.E139K|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	139										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CACACAGGCTCTGGATTCAGA	0.453000													28	162					0	0	1	0	0
GPR22	2845	broad.mit.edu	37	7	107115790	107115790	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:107115790C>T	ENST00000304402.4	+	3	2628	c.1285C>T	c.(1285-1287)Cag>Tag	p.Q429*	COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	429						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TTTAGTGCCTCAGGTTGTCAC	0.299000													10	39					0	0	1	0	0
GABRP	2568	broad.mit.edu	37	5	170221248	170221248	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:170221248G>C	ENST00000518525.1	+	5	650	c.186G>C	c.(184-186)caG>caC	p.Q62H	GABRP_ENST00000519385.1_Missense_Mutation_p.Q62H|GABRP_ENST00000265294.4_Missense_Mutation_p.Q62H|GABRP_ENST00000519598.1_Missense_Mutation_p.Q62H			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	62						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACCCGTACAGATAGCGCTGA	0.378000													27	201					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23049351	23049351	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:23049351C>T	ENST00000221132.3	-	10	1327	c.1263G>A	c.(1261-1263)cgG>cgA	p.R421R		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	421	Death.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCGAGGCGTTCCGTCCAGTTT	0.512000													19	99					0	0	1	0	0
B3GNT1	11041	broad.mit.edu	37	11	66113586	66113586	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:66113586C>G	ENST00000311181.4	-	2	1328	c.1182G>C	c.(1180-1182)aaG>aaC	p.K394N		NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	394					poly-N-acetyllactosamine biosynthetic process	integral to Golgi membrane	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity			breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						GATATAGGATCTTATTGTGCT	0.488000													18	108					0	0	1	0	0
TUBBP1	92755	broad.mit.edu	37	8	30210367	30210367	+	RNA	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:30210367C>G	ENST00000518096.1	+	0	979																											CCAGCAGTATCGAGCTCTCAC	0.587000													12	75					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57543322	57543322	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:57543322G>C	ENST00000311180.8	+	1	1319	c.1216G>C	c.(1216-1218)Gag>Cag	p.E406Q	PDE12_ENST00000487257.1_Missense_Mutation_p.E406Q	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	406							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		CGAAGCCCTCGAGTCCGACCC	0.483000													9	74					0	0	1	0	0
TMCO3	55002	broad.mit.edu	37	13	114157865	114157865	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:114157865C>G	ENST00000434316.2	+	6	1359	c.1000C>G	c.(1000-1002)Ctt>Gtt	p.L334V	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.L334V	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	334						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TACTCTTTTTCTTGTTGGCTT	0.358000													19	68					0	0	1	0	0
FUS	2521	broad.mit.edu	37	16	31195651	31195651	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:31195651C>T	ENST00000254108.7	+	5	562	c.457C>T	c.(457-459)Cag>Tag	p.Q153*	FUS_ENST00000380244.3_Nonsense_Mutation_p.Q152*|FUS_ENST00000568685.1_Nonsense_Mutation_p.Q153*	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	153	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding	p.Q153*(1)	FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TAATCCCCCTCAGGGCTATGG	0.562000			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								10	78					0	0	1	0	0
PLCH1	23007	broad.mit.edu	37	3	155200519	155200519	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:155200519A>G	ENST00000460012.1	-	23	3563	c.3206T>C	c.(3205-3207)aTc>aCc	p.I1069T	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.I1069T|PLCH1_ENST00000340059.7_Missense_Mutation_p.I1107T|PLCH1_ENST00000414191.1_Missense_Mutation_p.I1069T|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1107					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CTTTTCCTTGATTTTCACACC	0.478000													4	128					0	0	1	0	0
KNG1	3827	broad.mit.edu	37	3	186459949	186459949	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:186459949C>T	ENST00000265023.4	+	10	1976	c.1764C>T	c.(1762-1764)atC>atT	p.I588I	RP11-573D15.8_ENST00000599314.1_RNA|RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000447445.1_Intron|KNG1_ENST00000287611.2_Intron	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	588					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	ACGATTGGATCCCTGATATCC	0.458000													24	110					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29821774	29821774	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:29821774C>T	ENST00000375398.2	-	10	1971	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.E508K			O95425	SVIL_HUMAN	supervillin	508					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CCTGTCCTCTCAGTGGGCTGG	0.542000													18	95					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166019214	166019214	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:166019214C>T	ENST00000360093.3	-	8	1310	c.819G>A	c.(817-819)ctG>ctA	p.L273L	SCN3A_ENST00000409101.3_Silent_p.L273L|SCN3A_ENST00000283254.7_Silent_p.L273L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	273						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATTTATTCCTCAGATTGCCCA	0.448000													16	83					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41160370	41160370	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:41160370G>A	ENST00000263413.3	-	11	1822	c.1558C>T	c.(1558-1560)Cct>Tct	p.P520S	C6_ENST00000337836.5_Missense_Mutation_p.P520S|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	520	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CACTGGCAAGGATCGAACTTG	0.522000													19	85					0	0	1	0	0
MST1L	11223	broad.mit.edu	37	1	17084470	17084470	+	RNA	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:17084470G>C	ENST00000455405.2	-	0	419																											CTGGGAGCCTGAGGGCCCACA	0.612000													4	167					0	0	1	0	0
EMID1	129080	broad.mit.edu	37	22	29650224	29650224	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:29650224G>C	ENST00000334018.6	+	14	1340	c.1152G>C	c.(1150-1152)ttG>ttC	p.L384F	EMID1_ENST00000404755.3_Missense_Mutation_p.L363F|EMID1_ENST00000404820.3_Intron	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	382						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GCGAGGCTTTGAAGATTTTAG	0.577000													26	122					0	0	1	0	0
CEP135	9662	broad.mit.edu	37	4	56831889	56831889	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:56831889C>T	ENST00000257287.4	+	8	1032	c.908C>T	c.(907-909)tCt>tTt	p.S303F		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	303					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ACAGTGACATCTGAAGTCGTT	0.353000													7	54					0	0	1	0	0
LDLRAD3	143458	broad.mit.edu	37	11	36250936	36250936	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:36250936G>C	ENST00000315571.5	+	6	1048	c.1027G>C	c.(1027-1029)Gaa>Caa	p.E343Q	LDLRAD3_ENST00000524419.1_Missense_Mutation_p.E333Q|LDLRAD3_ENST00000528989.1_Missense_Mutation_p.E294Q	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	343						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				CCAGGGCACTGAAGAAGTATA	0.552000													10	67					0	0	1	0	0
CHDC2	286464	broad.mit.edu	37	X	36091420	36091420	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:36091420T>G	ENST00000313548.4	+	4	541	c.355T>G	c.(355-357)Ttc>Gtc	p.F119V		NM_173695.2	NP_775966.1			calponin homology domain containing 2																		ACAGACCTGGTTCAGTCTCTT	0.403000													17	42					0	0	1	0	0
RHOBTB1	9886	broad.mit.edu	37	10	62648858	62648858	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:62648858C>G	ENST00000337910.5	-	6	905	c.568G>C	c.(568-570)Gtg>Ctg	p.V190L	RHOBTB1_ENST00000357917.4_Missense_Mutation_p.V190L	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	190	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					TGGTCAAACACGCTTGTTTCA	0.458000													35	141					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61527713	61527713	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:61527713C>T	ENST00000266070.4	-	8	2411	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	DIDO1_ENST00000395340.1_Missense_Mutation_p.E696K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E696K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E696K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	696	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTTCGTTTTCTGTCATGATT	0.343000													9	69					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12009946	12009946	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:12009946C>T	ENST00000196061.4	+	3	312	c.285C>T	c.(283-285)gtC>gtT	p.V95V	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Silent_p.V142V	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	95					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGGATCTGGTCATTCTCTTCG	0.567000													23	134					0	0	1	0	0
HTR3C	170572	broad.mit.edu	37	3	183774037	183774037	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:183774037G>A	ENST00000318351.1	+	4	386	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	118						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGTATTAGCTGAAAACCTGTG	0.502000													27	111					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7230258	7230258	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:7230258C>T	ENST00000399464.2	-	4	879	c.864G>A	c.(862-864)ctG>ctA	p.L288L	NEURL4_ENST00000315614.7_Silent_p.L288L|NEURL4_ENST00000570460.1_Silent_p.L266L	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGTTCACATTCAGGAGCCCTC	0.567000													10	98					0	0	1	0	0
MAS1L	116511	broad.mit.edu	37	6	29455149	29455149	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:29455149G>A	ENST00000377127.3	-	1	589	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	177						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						ACCAGATGGGGAAGAGGACAC	0.493000													12	65					0	0	1	0	0
ANAPC1	64682	broad.mit.edu	37	2	112630977	112630977	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:112630977C>G	ENST00000341068.3	-	5	1208	c.436G>C	c.(436-438)Gaa>Caa	p.E146Q	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	146					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TTTTCTACTTCATTGCTACCT	0.323000													9	97					0	0	1	0	0
DOCK7	85440	broad.mit.edu	37	1	63021642	63021642	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:63021642G>T	ENST00000251157.5	-	21	2483	c.2450C>A	c.(2449-2451)tCt>tAt	p.S817Y	DOCK7_ENST00000340370.5_Missense_Mutation_p.S817Y	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	817					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGCTTCAAAAGATGCTTGACC	0.338000													13	102					1.5842e-08	1.62992e-08	1	1	0
ITGB1BP1	9270	broad.mit.edu	37	2	9552439	9552439	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:9552439C>G	ENST00000360635.3	-	5	1143	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q	ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.E83Q|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.E83Q			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	83	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		AATGGCCCTTCAAGGCCTTTT	0.403000													16	105					0	0	1	0	0
ERI3	79033	broad.mit.edu	37	1	44713660	44713660	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:44713660C>G	ENST00000372257.2	-	8	1063	c.882G>C	c.(880-882)atG>atC	p.M294I	ERI3_ENST00000537474.1_Missense_Mutation_p.M117I|ERI3_ENST00000372259.5_Missense_Mutation_p.M179I	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	294	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGCCCTTGTTCATGTCTAGAA	0.597000													10	44					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214816665	214816665	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:214816665G>C	ENST00000366955.3	+	12	5152	c.4984G>C	c.(4984-4986)Gat>Cat	p.D1662H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1758					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CGACACAGAAGATGTAAGTAC	0.413000													16	69					0	0	1	0	0
THUMPD1	55623	broad.mit.edu	37	16	20749188	20749188	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:20749188G>C	ENST00000381337.2	-	3	841	c.497C>G	c.(496-498)tCa>tGa	p.S166*	THUMPD1_ENST00000396083.2_Nonsense_Mutation_p.S166*|THUMPD1_ENST00000431224.2_Nonsense_Mutation_p.S252*	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	166	THUMP.									NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						GCATGTGCCTGAGATGGGTAA	0.363000													30	142					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3917671	3917671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:3917671G>A	ENST00000381638.2	-	50	8408	c.8284C>T	c.(8284-8286)Cag>Tag	p.Q2762*		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2762							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CACTTCTGCTGAGACCCGCTG	0.458000													24	133					0	0	1	0	0
LRRC8C	84230	broad.mit.edu	37	1	90179927	90179927	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:90179927G>C	ENST00000370454.4	+	3	2053	c.1798G>C	c.(1798-1800)Gac>Cac	p.D600H	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	600						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GGTCCACTGTGACCTGGAGCG	0.453000													13	61					0	0	1	0	0
C17orf102	400591	broad.mit.edu	37	17	32905942	32905942	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:32905942G>T	ENST00000357754.1	-	1	446	c.358C>A	c.(358-360)Ctg>Atg	p.L120M		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	120										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						CCCAGCAACAGAATAAATAGG	0.612000													55	235					4.60343e-24	4.80374e-24	1	1	0
RSPH6A	81492	broad.mit.edu	37	19	46317957	46317957	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:46317957C>T	ENST00000221538.3	-	1	620	c.478G>A	c.(478-480)Ggt>Agt	p.G160S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.G160S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	160						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TGCTGGGCACCTTCAGAGAAC	0.602000													13	47					0	0	1	0	0
RBM17	84991	broad.mit.edu	37	10	6152029	6152029	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:6152029G>A	ENST00000446108.1	+	7	1287	c.643G>A	c.(643-645)Gag>Aag	p.E215K	RBM17_ENST00000379888.4_Missense_Mutation_p.E215K	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	215					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCCAGTGTACGAGGAACAAGA	0.453000													17	91					0	0	1	0	0
ALB	213	broad.mit.edu	37	4	74280809	74280809	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:74280809A>T	ENST00000295897.4	+	9	1205	c.1116A>T	c.(1114-1116)agA>agT	p.R372S	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Missense_Mutation_p.R257S|ALB_ENST00000415165.2_Missense_Mutation_p.R180S|ALB_ENST00000503124.1_Missense_Mutation_p.R222S|ALB_ENST00000509063.1_Missense_Mutation_p.R372S	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	372	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TGCTGCTGAGACTTGCCAAGA	0.393000													16	128					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61965585	61965585	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:61965585G>A	ENST00000280772.2	-	11	1449	c.1258C>T	c.(1258-1260)Ctg>Ttg	p.L420L	ANK3_ENST00000503366.1_Silent_p.L403L|ANK3_ENST00000373827.2_Silent_p.L414L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CCGTGTTTCAGAAGGAGTTCC	0.443000													9	50					0	0	1	0	0
RASEF	158158	broad.mit.edu	37	9	85624578	85624578	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:85624578C>T	ENST00000376447.3	-	6	1197	c.937G>A	c.(937-939)Gat>Aat	p.D313N		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	313					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						AGACTCTGATCAGCATAATCA	0.358000													16	71					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11354586	11354586	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:11354586C>G	ENST00000315872.6	-	17	2388	c.1940G>C	c.(1939-1941)aGa>aCa	p.R647T	ROCK2_ENST00000401753.1_Missense_Mutation_p.R404T	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	647	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GCCACATATTCTACCTAAAAA	0.333000													10	48					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32154562	32154562	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:32154562C>T	ENST00000373672.3	-	25	2183	c.1667G>A	c.(1666-1668)tGc>tAc	p.C556Y	COL16A1_ENST00000271069.6_Missense_Mutation_p.C556Y|COL16A1_ENST00000373668.3_Missense_Mutation_p.C556Y	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	556	Nonhelical region 8 (NC8).				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCAGGACAAGCAGGGCTCCCC	0.607000													7	44					0	0	1	0	0
HIGD2B	123346	broad.mit.edu	37	15	72968669	72968669	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:72968669G>A	ENST00000311755.3	-	3	570	c.47C>T	c.(46-48)tCg>tTg	p.S16L						HIG1 hypoxia inducible domain family, member 2B																		GGGGGGCTTCGATGATTCAAA	0.507000													3	16					0	0	1	0	0
PEAK1	79834	broad.mit.edu	37	15	77473584	77473584	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:77473584C>G	ENST00000560626.2	-	4	1160	c.685G>C	c.(685-687)Gag>Cag	p.E229Q	PEAK1_ENST00000558305.1_Missense_Mutation_p.E229Q|PEAK1_ENST00000312493.4_Missense_Mutation_p.E229Q			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	229					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										CTGGAAAACTCTGGGTAACAG	0.483000													31	169					0	0	1	0	0
HLA-E	3133	broad.mit.edu	37	6	30458171	30458171	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:30458171C>G	ENST00000376630.4	+	3	554	c.489C>G	c.(487-489)atC>atG	p.I163M		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	163	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CGGCTCAGATCTCCGAGCAAA	0.582000													11	73					0	0	1	0	0
C15orf57	90416	broad.mit.edu	37	15	40846308	40846308	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:40846308C>G	ENST00000358005.3	-	4	693	c.420G>C	c.(418-420)aaG>aaC	p.K140N	C15orf57_ENST00000559911.1_Intron|C15orf57_ENST00000560305.1_Intron|C15orf57_ENST00000558750.1_Missense_Mutation_p.K149N|C15orf57_ENST00000561011.1_Intron|C15orf57_ENST00000558113.1_Intron|C15orf57_ENST00000416810.2_Missense_Mutation_p.K140N|RP11-111A22.1_ENST00000561460.1_RNA	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	140										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						GGAGCCACCTCTTGAAATGTT	0.478000													12	61					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34055151	34055151	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:34055151G>C	ENST00000397527.1	+	9	1342	c.622G>C	c.(622-624)Gag>Cag	p.E208Q	CEP250_ENST00000397524.1_Missense_Mutation_p.E208Q|CEP250_ENST00000342580.4_Missense_Mutation_p.E208Q	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	208					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCTAAAAGCTGAGCATGTGAG	0.537000													18	86					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	662974	662974	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:662974G>C	ENST00000266383.5	+	14	1898	c.1885G>C	c.(1885-1887)Gac>Cac	p.D629H		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	629						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			ACCTGTGTTTGACCCGGTAGT	0.552000													17	104					0	0	1	0	0
USP47	55031	broad.mit.edu	37	11	11964413	11964413	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:11964413G>C	ENST00000339865.5	+	19	3404	c.2641G>C	c.(2641-2643)Gat>Cat	p.D881H	USP47_ENST00000539466.1_5'UTR|USP47_ENST00000527733.1_Missense_Mutation_p.D949H|USP47_ENST00000399455.2_Missense_Mutation_p.D969H	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	969					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TCATAGCAGTGATACTTTGTG	0.403000													14	77					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85571416	85571416	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:85571416G>C	ENST00000295802.4	-	8	1424	c.1312C>G	c.(1312-1314)Ctc>Gtc	p.L438V	RETSAT_ENST00000475624.2_5'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.L377V|RETSAT_ENST00000263854.6_Missense_Mutation_p.L438V	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	438					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCGAAGAAGAGAAGAGGGATG	0.612000													6	43					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114268607	114268607	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:114268607G>A	ENST00000408937.3	+	5	720	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	FOXP2_ENST00000360232.4_Missense_Mutation_p.V91M|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000390668.3_Missense_Mutation_p.V115M|FOXP2_ENST00000378237.3_Missense_Mutation_p.V91M|FOXP2_ENST00000393498.2_Missense_Mutation_p.V91M|FOXP2_ENST00000393500.3_5'UTR|FOXP2_ENST00000393494.2_Missense_Mutation_p.V91M|FOXP2_ENST00000350908.4_Missense_Mutation_p.V91M|FOXP2_ENST00000403559.4_Missense_Mutation_p.V91M|FOXP2_ENST00000393489.3_5'UTR	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	91	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GCCTGTGTCAGTGGCCATGAT	0.438000													19	110					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43309335	43309335	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:43309335C>T	ENST00000380486.3	-	14	2230	c.1989G>A	c.(1987-1989)cgG>cgA	p.R663R	C2CD2_ENST00000329623.7_Silent_p.R508R	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	663						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGCCTTTCCTCCGGGAACCCT	0.572000													4	39					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90265013	90265013	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:90265013G>C	ENST00000469640.2	+	16	1981	c.1606G>C	c.(1606-1608)Gac>Cac	p.D536H	DAPK1_ENST00000491893.1_Missense_Mutation_p.D536H|DAPK1_ENST00000358077.5_Missense_Mutation_p.D536H|DAPK1_ENST00000408954.3_Missense_Mutation_p.D536H|DAPK1_ENST00000472284.1_Missense_Mutation_p.D536H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	536					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						ACATGGAGCCGACCTTAATGC	0.542000									Chronic Lymphocytic Leukemia, Familial Clustering of				4	33					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40034587	40034587	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:40034587C>G	ENST00000372857.3	-	6	1555	c.763G>C	c.(763-765)Gaa>Caa	p.E255Q	RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Missense_Mutation_p.E255Q|PABPC4_ENST00000372858.3_Missense_Mutation_p.E255Q|PABPC4_ENST00000372856.3_Missense_Mutation_p.E255Q|PABPC4_ENST00000529216.1_5'UTR	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	255	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCACTTATTTCTTTTCCATTC	0.378000													23	128					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56492571	56492571	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:56492571C>T	ENST00000267101.3	+	23	3161	c.2721C>T	c.(2719-2721)ttC>ttT	p.F907F	ERBB3_ENST00000553131.1_Silent_p.F148F|ERBB3_ENST00000415288.2_Silent_p.F848F|ERBB3_ENST00000549832.1_Silent_p.F27F|ERBB3_ENST00000450146.2_Silent_p.F264F	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	907	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGATGACCTTCGGGGCAGAGC	0.527000													16	126					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33543003	33543003	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:33543003C>T	ENST00000265371.4	-	7	1459	c.934G>A	c.(934-936)Gag>Aag	p.E312K	NRP1_ENST00000374821.5_Missense_Mutation_p.E312K|NRP1_ENST00000374867.2_Missense_Mutation_p.E312K|NRP1_ENST00000374822.4_Missense_Mutation_p.E312K|NRP1_ENST00000374816.3_Missense_Mutation_p.E312K|NRP1_ENST00000374875.1_Missense_Mutation_p.E131K|NRP1_ENST00000395995.1_Missense_Mutation_p.E312K|NRP1_ENST00000374823.5_Missense_Mutation_p.E312K|NRP1_ENST00000432372.2_Missense_Mutation_p.E312K			O14786	NRP1_HUMAN	neuropilin 1	312	F5/8 type C 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CACCCATTCTCAGGGTAGTTC	0.488000													15	117					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226576408	226576408	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:226576408C>G	ENST00000366794.5	-	5	809	c.666G>C	c.(664-666)aaG>aaC	p.K222N		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	222					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTTTAGATTTCTTCTTCGCCA	0.433000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					14	118					0	0	1	0	0
MYH10	4628	broad.mit.edu	37	17	8380343	8380343	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:8380343C>T	ENST00000360416.3	-	42	5868	c.5730G>A	c.(5728-5730)atG>atA	p.M1910I	MYH10_ENST00000379980.4_Missense_Mutation_p.M1895I|MYH10_ENST00000396239.1_Missense_Mutation_p.M1900I|MYH10_ENST00000269243.4_Missense_Mutation_p.M1879I|NDEL1_ENST00000299734.7_Intron	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1879					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TAAGCTGCTTCATCCGAGCGT	0.567000													9	74					0	0	1	0	0
SVEP1	79987	broad.mit.edu	37	9	113234567	113234567	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:113234567T>C	ENST00000401783.2	-	15	2972	c.2636A>G	c.(2635-2637)tAc>tGc	p.Y879C	SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.Y856C|SVEP1_ENST00000302728.8_Missense_Mutation_p.Y879C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	879					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCGTAAGAGTAATCCAGCCT	0.493000													12	71					0	0	1	0	0
HMG20B	10362	broad.mit.edu	37	19	3573775	3573775	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:3573775G>C	ENST00000333651.6	+	3	199	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	MFSD12_ENST00000591878.1_5'UTR|HMG20B_ENST00000585741.1_3'UTR	NM_006339.2	NP_006330.2	Q9P0W2	HM20B_HUMAN	high mobility group 20B	42					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCGCGGGCGAGAAGGGGTC	0.721000													7	25					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409796	56409796	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:56409796G>C	ENST00000544374.1	-	1	151	c.123C>G	c.(121-123)atC>atG	p.I41M	OR5AP2_ENST00000302981.1_Missense_Mutation_p.I40M			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						TTGCCATATAGATCAACAGAA	0.408000													16	94					0	0	1	0	0
GAGE2A	729447	broad.mit.edu	37	X	49355831	49355831	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:49355831C>A	ENST00000362097.1	+	3	196	c.113C>A	c.(112-114)gCa>gAa	p.A38E		NM_001127212.1	NP_001120684.1			G antigen 2A											endometrium(4)	4	Ovarian(276;0.236)					GTGGAACCAGCAACACCTGAA	0.468000													46	495					3.76604e-16	3.91751e-16	1	1	0
NUP210	23225	broad.mit.edu	37	3	13377104	13377104	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:13377104G>A	ENST00000254508.5	-	28	3775	c.3693C>T	c.(3691-3693)atC>atT	p.I1231I		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1231					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ACGGGAGTCGGATCGACGCCT	0.617000													8	47					0	0	1	0	0
BTBD7	55727	broad.mit.edu	37	14	93760261	93760261	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:93760261C>T	ENST00000334746.5	-	3	1412	c.1105G>A	c.(1105-1107)Gaa>Aaa	p.E369K	BTBD7_ENST00000555525.1_Missense_Mutation_p.E369K|BTBD7_ENST00000554565.1_Intron|BTBD7_ENST00000298896.3_Missense_Mutation_p.E369K|BTBD7_ENST00000393170.2_Missense_Mutation_p.E38K	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	369										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)		TCCATGGCTTCTTCTGCCCTG	0.453000													19	66					0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76415254	76415254	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:76415254C>G	ENST00000357063.3	+	24	5008	c.3748C>G	c.(3748-3750)Caa>Gaa	p.Q1250E	LMO7_ENST00000465261.2_Missense_Mutation_p.Q965E|LMO7_ENST00000377534.3_Missense_Mutation_p.Q1250E|LMO7_ENST00000341547.4_Missense_Mutation_p.Q916E|LMO7_ENST00000321797.8_Missense_Mutation_p.Q965E|LMO7_ENST00000526202.1_Missense_Mutation_p.Q842E			Q8WWI1	LMO7_HUMAN	LIM domain 7	1250						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGAAAAATATCAACGTGAGCA	0.363000													6	37					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70451365	70451365	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:70451365G>C	ENST00000373644.4	+	12	6414	c.6205G>C	c.(6205-6207)Gag>Cag	p.E2069Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2069					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						GATTAAGTTTGAGGCTAAAGA	0.413000													13	64					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574216	41574216	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:41574216G>A	ENST00000263253.7	+	31	7720	c.6501G>A	c.(6499-6501)caG>caA	p.Q2167Q	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2167	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGGCTCAGCAGATGAACATGA	0.582000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				22	90					0	0	1	0	0
GBA	2629	broad.mit.edu	37	1	155209797	155209797	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:155209797C>G	ENST00000327247.5	-	4	419	c.187G>C	c.(187-189)Gac>Cac	p.D63H	GBA_ENST00000493842.1_5'UTR|GBA_ENST00000368373.3_Missense_Mutation_p.D63H|GBA_ENST00000428024.3_5'UTR|GBA_ENST00000427500.3_Missense_Mutation_p.D63H|GBA_ENST00000536770.1_Intron	NM_001005741.2|NM_001005742.2	NP_001005741.1|NP_001005742.1	P04062	GLCM_HUMAN	glucosidase, beta, acid	63			D -> N (in GD1; very low activity).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TCAAAGGAGTCACAGTATGTG	0.592000									Gaucher disease type I				5	31					0	0	1	0	0
P2RY2	5029	broad.mit.edu	37	11	72945369	72945369	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:72945369C>G	ENST00000311131.2	+	3	632	c.165C>G	c.(163-165)ctC>ctG	p.L55L	P2RY2_ENST00000393596.2_Silent_p.L55L|P2RY2_ENST00000393597.2_Silent_p.L55L	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	55					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGTGGCGCTCTACATCTTCT	0.597000													18	94					0	0	1	0	0
KPNA1	3836	broad.mit.edu	37	3	122172734	122172734	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:122172734C>G	ENST00000344337.6	-	6	723	c.547G>C	c.(547-549)Gaa>Caa	p.E183Q	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	183	NLS binding site (major) (By similarity).				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TGGACATCTTCAAACTCTGAG	0.438000													12	62					0	0	1	0	0
ITGBL1	9358	broad.mit.edu	37	13	102227803	102227803	+	Silent	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:102227803T>C	ENST00000376180.3	+	4	711	c.492T>C	c.(490-492)tgT>tgC	p.C164C	ITGBL1_ENST00000376162.3_Silent_p.C71C|ITGBL1_ENST00000545560.2_Silent_p.C23C	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	164	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGTGTAAGTGTGATAATTCAG	0.333000													4	153					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37153584	37153584	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:37153584G>A	ENST00000262879.6	+	11	2067	c.1783G>A	c.(1783-1785)Gac>Aac	p.D595N	RALGAPB_ENST00000397038.1_Missense_Mutation_p.D373N|RALGAPB_ENST00000397042.3_Missense_Mutation_p.D595N|RALGAPB_ENST00000397040.1_Missense_Mutation_p.D595N			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	595					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	p.D595H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATTTTGCCTGACAGGTAAGC	0.423000													43	188					0	0	1	0	0
ICA1L	130026	broad.mit.edu	37	2	203676481	203676481	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:203676481C>G	ENST00000392237.2	-	10	1055	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	ICA1L_ENST00000358299.2_Missense_Mutation_p.E300Q	NM_138468.4	NP_612477.3	Q8NDH6	ICA1L_HUMAN	islet cell autoantigen 1,69kDa-like	300										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTCACTCTCAAAGCTTGCT	0.274000													12	140					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	443421	443421	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:443421G>C	ENST00000399788.2	-	11	1838	c.1476C>G	c.(1474-1476)atC>atG	p.I492M	KDM5A_ENST00000382815.4_Missense_Mutation_p.I492M	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	492	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GCAAGTAGTTGATGGAATAAC	0.393000			T	NUP98	AML								24	115					0	0	1	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135878476	135878476	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:135878476C>T	ENST00000264158.8	+	8	779	c.736C>T	c.(736-738)Cag>Tag	p.Q246*	RAB3GAP1_ENST00000539493.1_Nonsense_Mutation_p.Q202*|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Nonsense_Mutation_p.Q246*	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	246						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTTTTGGCCTCAGCAACCTCC	0.333000													15	103					0	0	1	0	0
GPR85	54329	broad.mit.edu	37	7	112724459	112724459	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:112724459G>C	ENST00000297146.3	-	3	921	c.318C>G	c.(316-318)ttC>ttG	p.F106L	GPR85_ENST00000501255.2_Missense_Mutation_p.F106L|GPR85_ENST00000424100.1_Missense_Mutation_p.F106L|GPR85_ENST00000449591.1_Missense_Mutation_p.F106L	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85							integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F106F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						AAGCAGTGTGGAAACAGGACA	0.458000													14	65					0	0	1	0	0
LYSMD3	116068	broad.mit.edu	37	5	89814705	89814705	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:89814705G>A	ENST00000500869.2	-	4	585	c.377C>T	c.(376-378)tCa>tTa	p.S126L	LYSMD3_ENST00000509384.1_3'UTR|LYSMD3_ENST00000315948.6_Silent_p.F284F			Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	0					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CTTGTTGGCTGAAATGTATTC	0.378000													19	111					0	0	1	0	0
ADAMTS13	11093	broad.mit.edu	37	9	136323136	136323136	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:136323136C>T	ENST00000371929.3	+	28	4441	c.3997C>T	c.(3997-3999)Ccg>Tcg	p.P1333S	ADAMTS13_ENST00000356589.2_Missense_Mutation_p.P1246S|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.P1277S|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.P129S|ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1333	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TAATGTGGCTCCGCACGCACG	0.622000													8	64					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62297007	62297007	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:62297007C>T	ENST00000378024.4	-	5	5156	c.4882G>A	c.(4882-4884)Gat>Aat	p.D1628N	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1628					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCTTCAATATCAATATCACCA	0.458000													29	204					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49725032	49725032	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:49725032C>T	ENST00000449682.2	-	3	673	c.312G>A	c.(310-312)acG>acA	p.T104T	MST1_ENST00000545762.1_Silent_p.T90T|MST1_ENST00000494828.2_5'UTR|MST1_ENST00000383728.3_Silent_p.T29T	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	90	PAN.				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)		GCCGCAGCCTCGTGTGGGGCG	0.612000													7	57					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28918318	28918318	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:28918318G>A	ENST00000257192.4	+	10	1518	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	436	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GCTAGCTGTTGATTCAAGAAC	0.333000													10	83					0	0	1	0	0
CEP78	84131	broad.mit.edu	37	9	80855244	80855244	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:80855244C>G	ENST00000424347.2	+	3	752	c.463C>G	c.(463-465)Ctt>Gtt	p.L155V	CEP78_ENST00000415759.2_Missense_Mutation_p.L155V|CEP78_ENST00000277082.5_Missense_Mutation_p.L155V|CEP78_ENST00000376598.2_Missense_Mutation_p.L155V|CEP78_ENST00000376597.4_Missense_Mutation_p.L155V			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	155					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GCACCTGTCTCTTGCAAATTG	0.368000													5	31					0	0	1	0	0
TGFBRAP1	9392	broad.mit.edu	37	2	105889361	105889361	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:105889361C>T	ENST00000393359.2	-	10	2349	c.1923G>A	c.(1921-1923)ctG>ctA	p.L641L	TGFBRAP1_ENST00000258449.1_Silent_p.L641L			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	641					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCAGCCGCCGCAGCTTGGCCT	0.547000													11	45					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1703325	1703325	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:1703325C>G	ENST00000305513.7	-	5	1530	c.1363G>C	c.(1363-1365)Gaa>Caa	p.E455Q		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	455							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGGCTGCTTCTAGCTGTCTG	0.473000													21	97					0	0	1	0	0
TTK	7272	broad.mit.edu	37	6	80721692	80721692	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:80721692G>C	ENST00000509894.1	+	8	1720	c.891G>C	c.(889-891)atG>atC	p.M297I	TTK_ENST00000369798.2_Missense_Mutation_p.M297I|TTK_ENST00000230510.3_Missense_Mutation_p.M297I			P33981	TTK_HUMAN	TTK protein kinase	297					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CTTGTTTTATGAAAAGGTATG	0.323000													9	51					0	0	1	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184901	118184901	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:118184901G>T	ENST00000427715.2	+	11	1378	c.944G>T	c.(943-945)tGt>tTt	p.C315F	SLC30A8_ENST00000521243.1_Missense_Mutation_p.C315F|SLC30A8_ENST00000456015.2_Missense_Mutation_p.C364F|SLC30A8_ENST00000519688.1_Missense_Mutation_p.C315F	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	364					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity	p.C364F(1)		breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TGCCTTTTCTGTGAAGACCCC	0.468000													12	108					5.50884e-06	5.61961e-06	1	1	0
LATS1	9113	broad.mit.edu	37	6	150005006	150005006	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:150005006G>A	ENST00000543571.1	-	4	1766	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.Q407*|LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000392273.3_Nonsense_Mutation_p.Q407*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	407					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ATCATAGACTGAGGAATACTT	0.433000													34	218					0	0	1	0	0
BIN2	51411	broad.mit.edu	37	12	51707673	51707673	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:51707673C>T	ENST00000267012.4	-	2	157	c.96G>A	c.(94-96)ttG>ttA	p.L32L	BIN2_ENST00000452142.2_Silent_p.L32L|BIN2_ENST00000544402.1_Silent_p.L6L|BIN2_ENST00000604560.1_Intron	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	32	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGCTTTCCCCAATTTCTGCA	0.463000													14	91					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216462647	216462647	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:216462647C>G	ENST00000366943.2	-	11	2332	c.1946G>C	c.(1945-1947)aGa>aCa	p.R649T	USH2A_ENST00000307340.3_Missense_Mutation_p.R649T|USH2A_ENST00000366942.3_Missense_Mutation_p.R649T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	649	Laminin EGF-like 3.				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)		GCTACCATTTCTAGTGCCAAC	0.408000										HNSCC(13;0.011)			20	74					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129905047	129905047	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:129905047G>C	ENST00000368654.3	-	13	5432	c.5057C>G	c.(5056-5058)tCa>tGa	p.S1686*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.S1326*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1686	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACTTGCTGCTGAGTCTAAGAT	0.498000													22	105					0	0	1	0	0
ZNF468	90333	broad.mit.edu	37	19	53344811	53344811	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:53344811C>T	ENST00000595646.1	-	4	856	c.736G>A	c.(736-738)Gat>Aat	p.D246N	ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Missense_Mutation_p.D193N|ZNF468_ENST00000396409.4_Missense_Mutation_p.D193N			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		CCACATACATCACATTTACAT	0.368000													25	100					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166020343	166020343	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:166020343C>G	ENST00000360093.3	-	7	1154	c.663G>C	c.(661-663)ttG>ttC	p.L221F	SCN3A_ENST00000409101.3_Missense_Mutation_p.L221F|SCN3A_ENST00000283254.7_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	221						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCAGAGCTCTCAAGACTCTGA	0.378000													10	97					0	0	1	0	0
SCAP	22937	broad.mit.edu	37	3	47468688	47468688	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:47468688G>C	ENST00000265565.5	-	6	1108	c.696C>G	c.(694-696)gtC>gtG	p.V232V	SCAP_ENST00000441517.2_Intron|SCAP_ENST00000545718.1_Intron	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	232					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGTGTAGGAGACCATCCTCT	0.517000													9	100					0	0	1	0	0
NCL	4691	broad.mit.edu	37	2	232323796	232323796	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:232323796C>T	ENST00000322723.4	-	7	1321	c.1081G>A	c.(1081-1083)Gag>Aag	p.E361K		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	361	RRM 1.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AACGCTTTCTCCAGGTCTTCA	0.373000													5	103					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110489479	110489479	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:110489479G>A	ENST00000378402.5	+	53	9047	c.8943G>A	c.(8941-8943)caG>caA	p.Q2981Q		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2981					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCTTCATCAGAGTCAGCTCA	0.368000										HNSCC(38;0.096)			10	78					0	0	1	0	0
DHX9	1660	broad.mit.edu	37	1	182827713	182827713	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:182827713C>G	ENST00000367549.3	+	9	948	c.838C>G	c.(838-840)Caa>Gaa	p.Q280E		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	280	Interaction with BRCA1.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAACCTCTCTCAAGATTTAGA	0.383000													23	87					0	0	1	0	0
KRBA1	84626	broad.mit.edu	37	7	149431123	149431123	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:149431123G>A	ENST00000255992.10	+	18	3476	c.3077G>A	c.(3076-3078)tGg>tAg	p.W1026*	KRBA1_ENST00000479560.1_3'UTR|KRBA1_ENST00000485033.2_Nonsense_Mutation_p.W966*|KRBA1_ENST00000319551.8_Nonsense_Mutation_p.W966*	NM_032534.2	NP_115923.2	A5PL33	KRBA1_HUMAN	KRAB-A domain containing 1	1027										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GACCCGAGATGGGGGGCGCAT	0.662000													3	22					0	0	1	0	0
ZNF407	55628	broad.mit.edu	37	18	72632492	72632492	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:72632492C>T	ENST00000299687.5	+	7	5272	c.5272C>T	c.(5272-5274)Cgc>Tgc	p.R1758C	ZNF407_ENST00000577538.1_Missense_Mutation_p.R1758C	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1758					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TGAAAATATCCGCAAACACAT	0.398000													5	40					0	0	1	0	0
COA1	55744	broad.mit.edu	37	7	43684865	43684865	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:43684865G>A	ENST00000395879.1	-	3	1930	c.249C>T	c.(247-249)gaC>gaT	p.D83D	COA1_ENST00000395880.3_Silent_p.D83D|COA1_ENST00000310564.6_Silent_p.D83D|COA1_ENST00000223336.6_Silent_p.D83D					cytochrome c oxidase assembly factor 1 homolog (S. cerevisiae)																		CATCAACAATGTCCACGAAGT	0.542000													16	44					0	0	1	0	0
LSM2	57819	broad.mit.edu	37	6	31765794	31765794	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:31765794G>C	ENST00000375661.5	-	4	361	c.135C>G	c.(133-135)gtC>gtG	p.V45V	LSM2_ENST00000491421.1_5'UTR	NM_021177.4	NP_067000.1	Q9Y333	LSM2_HUMAN	LSM2 homolog, U6 small nuclear RNA associated (S. cerevisiae)	45					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytosol|nucleoplasm	U6 snRNA binding			large_intestine(1)|lung(1)	2						CAGGGTCTGTGACACTGATGT	0.403000													17	88					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134147521	134147521	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:134147521G>A	ENST00000452510.2	+	18	2580	c.2422G>A	c.(2422-2424)Gat>Aat	p.D808N	DDX46_ENST00000354283.4_Missense_Mutation_p.D808N	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	808					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGATGATGAGGATGCTGCAGT	0.363000													18	66					0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53925175	53925175	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:53925175C>T	ENST00000371445.3	+	1	104	c.49C>T	c.(49-51)Cat>Tat	p.H17Y		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	17					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						ATGCAGGAACCATGGCTTCCT	0.597000													12	49					0	0	1	0	0
PGM5	5239	broad.mit.edu	37	9	71080073	71080073	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:71080073C>T	ENST00000396396.1	+	7	1337	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	PGM5_ENST00000396392.1_Silent_p.L370L	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	370					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CTTCTCAAATCTGATGGACTC	0.453000													21	88					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12758066	12758066	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:12758066G>A	ENST00000597692.1	-	3	462	c.463C>T	c.(463-465)Caa>Taa	p.Q155*	MAN2B1_ENST00000221363.4_Silent_p.L967L|MAN2B1_ENST00000456935.2_Silent_p.L968L																							TTGTCCACTTGAGCCTGGAGG	0.647000													9	77					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74327745	74327745	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:74327745C>G	ENST00000409262.3	+	9	3425	c.3425C>G	c.(3424-3426)tCc>tGc	p.S1142C		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1142							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTTCCACTCCAAGTACGCT	0.592000													6	28					0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914354	51914354	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:51914354C>T	ENST00000353836.5	-	10	2029	c.1808G>A	c.(1807-1809)tGa>tAa	p.*603*	SIGLEC10_ENST00000525998.1_Silent_p.*513*|SIGLEC10_ENST00000356298.5_Silent_p.*698*|SIGLEC10_ENST00000339313.5_Silent_p.*698*|SIGLEC10_ENST00000441969.3_Silent_p.*545*|SIGLEC10_ENST00000442846.3_Silent_p.*455*|SIGLEC10_ENST00000432469.2_Silent_p.*520*|SIGLEC10_ENST00000436984.2_Silent_p.*555*|SIGLEC10_ENST00000439889.2_Silent_p.*640*	NM_001171157.1|NM_001171158.1|NM_001171159.1	NP_001164628.1|NP_001164629.1|NP_001164630.1	Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	0					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AAGAGACCCTCATTGGAACTT	0.542000													10	64					0	0	1	0	0
CLTC	1213	broad.mit.edu	37	17	57760510	57760510	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:57760510G>C	ENST00000269122.3	+	25	4202	c.3928G>C	c.(3928-3930)Gag>Cag	p.E1310Q	CLTC_ENST00000393043.1_Missense_Mutation_p.E1310Q|CLTC_ENST00000579456.1_Missense_Mutation_p.E247Q	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1310	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ACTGGGACTTGAGCGAGCTCA	0.413000			T	"""ALK, TFE3"""	"""ALCL, renal """								17	109					0	0	1	0	0
NAV2	89797	broad.mit.edu	37	11	20075648	20075648	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:20075648C>A	ENST00000396085.1	+	18	4865	c.4504C>A	c.(4504-4506)Cgc>Agc	p.R1502S	NAV2_ENST00000349880.4_Missense_Mutation_p.R1502S|NAV2_ENST00000540292.1_Missense_Mutation_p.R1456S|NAV2_ENST00000311043.8_Missense_Mutation_p.R566S|NAV2_ENST00000533917.1_Missense_Mutation_p.R566S|NAV2_ENST00000527559.2_Missense_Mutation_p.R1454S|NAV2_ENST00000396087.3_Missense_Mutation_p.R1525S|NAV2_ENST00000360655.4_Missense_Mutation_p.R1438S	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1525	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CTCCCAGCTTCGCACGCAAGA	0.488000													7	33					0.00198382	0.00200203	1	1	0
FAM41C	284593	broad.mit.edu	37	1	809712	809712	+	RNA	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:809712G>A	ENST00000446136.1	-	0	981					NR_027055.1																						GGAGTATGCTGAGGAGGAGGT	0.493000													18	215					0	0	1	0	0
ADD1	118	broad.mit.edu	37	4	2877795	2877795	+	Missense_Mutation	SNP	G	G	A	rs140325938		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:2877795G>A	ENST00000355842.3	+	3	1016	c.153G>A	c.(151-153)atG>atA	p.M51I	ADD1_ENST00000446856.1_Missense_Mutation_p.M51I|ADD1_ENST00000513328.2_Missense_Mutation_p.M51I|ADD1_ENST00000398125.1_Missense_Mutation_p.M51I|ADD1_ENST00000398123.2_Missense_Mutation_p.M51I|ADD1_ENST00000503455.2_Missense_Mutation_p.M51I|ADD1_ENST00000264758.7_Missense_Mutation_p.M51I|ADD1_ENST00000398129.1_Missense_Mutation_p.M51I			P35611	ADDA_HUMAN	adducin 1 (alpha)	51					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACTTCAACATGATGGAGCAAA	0.478000													9	55					0	0	1	0	0
GUK1	2987	broad.mit.edu	37	1	228336365	228336365	+	Splice_Site	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:228336365G>A	ENST00000366718.1	+	8	988		c.e8-1		GUK1_ENST00000470040.1_Splice_Site|GUK1_ENST00000366723.1_Splice_Site|GUK1_ENST00000366730.1_Splice_Site|GUK1_ENST00000366722.1_Splice_Site|GUK1_ENST00000366728.2_Splice_Site|GUK1_ENST00000366716.1_Splice_Site|GUK1_ENST00000312726.4_Splice_Site|GUK1_ENST00000366726.1_Splice_Site|GUK1_ENST00000366721.1_Splice_Site|GUK1_ENST00000391865.3_Splice_Site	NM_001159391.1	NP_001152863.1	Q16774	KGUA_HUMAN	guanylate kinase 1						nucleobase, nucleoside and nucleotide interconversion|purine nucleotide metabolic process	cytosol	ATP binding|guanylate kinase activity			endometrium(2)|lung(5)|prostate(1)|soft_tissue(1)	9		Prostate(94;0.0405)				CTCACTGGCAGGAAATCAAGA	0.622000													5	58					0	0	1	0	0
CDK10	8558	broad.mit.edu	37	16	89757912	89757912	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:89757912C>T	ENST00000331006.8	+	3	1894	c.153C>T	c.(151-153)atC>atT	p.I51I	CDK10_ENST00000514965.1_3'UTR|CDK10_ENST00000353379.7_Silent_p.I98I|CDK10_ENST00000505473.1_Silent_p.I27I			Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	98	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		ATCCGAACATCGTGGAGCTGA	0.637000													8	22					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114279943	114279943	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:114279943C>G	ENST00000357077.4	+	38	10222	c.10169C>G	c.(10168-10170)tCt>tGt	p.S3390C	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.S3357C|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3357					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAAGCAAATCTGAATCTGAT	0.478000													23	105					0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68483325	68483325	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:68483325C>T	ENST00000255087.5	-	7	1183	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	334					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TTAAACCGTTCAATATCATGA	0.353000													6	37					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90368487	90368487	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:90368487C>G	ENST00000369393.3	-	89	14978	c.14863G>C	c.(14863-14865)Gag>Cag	p.E4955Q	MDN1_ENST00000428876.1_Missense_Mutation_p.E4955Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4955					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCCATTTCCTCTTCCCCTTCT	0.532000													29	225					0	0	1	0	0
IGHV3-49	28423	broad.mit.edu	37	14	107013195	107013195	+	RNA	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:107013195C>T	ENST00000390625.2	-	0	179																											AGGGACCGCCCTGGCTGTACC	0.562000													4	107					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56241199	56241199	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:56241199G>A	ENST00000332836.2	-	3	2019	c.1992C>T	c.(1990-1992)ctC>ctT	p.L664L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	664						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		AAACTTACATGAGTTTTCGGA	0.438000													13	44					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9086583	9086583	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:9086583C>G	ENST00000397910.4	-	1	5435	c.5232G>C	c.(5230-5232)caG>caC	p.Q1744H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1744	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTGTGCTCATCTGGCTTCCTT	0.498000													15	84					0	0	1	0	0
DUSP1	1843	broad.mit.edu	37	5	172196648	172196648	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:172196648C>G	ENST00000239223.3	-	3	905	c.663G>C	c.(661-663)aaG>aaC	p.K221N	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	221	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		CAGGGATGCTCTTGTACTGGT	0.517000													28	150					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68272007	68272007	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:68272007C>T	ENST00000347230.4	-	8	1336	c.1198G>A	c.(1198-1200)Gag>Aag	p.E400K	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.E400K	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	400					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTGAGGAGCTCATCACAGCCT	0.552000													3	34					0	0	1	0	0
LOC101929066	101929066	broad.mit.edu	37	8	17944414	17944414	+	RNA	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:17944414C>T	ENST00000499554.2	+	0	339				CTD-2547L16.1_ENST00000517747.1_RNA|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000505114.2_RNA|CTD-2547L16.1_ENST00000521775.1_RNA																							AGAAACAAATCACAAAAGCAA	0.303000													8	53					0	0	1	0	0
THBS1	7057	broad.mit.edu	37	15	39885656	39885656	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:39885656G>A	ENST00000260356.5	+	19	3219	c.3054G>A	c.(3052-3054)agG>agA	p.R1018R		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1018	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACACCGAAAGGGACGATGACT	0.498000													57	308					0	0	1	0	0
KHDRBS3	10656	broad.mit.edu	37	8	136619236	136619236	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:136619236G>C	ENST00000355849.5	+	7	1256	c.846G>C	c.(844-846)caG>caC	p.Q282H	KHDRBS3_ENST00000520981.1_Missense_Mutation_p.Q55H	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	282	Tyr-rich.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding	p.Q282Q(1)		NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			ATGATGAACAGAGTTATGATT	0.388000													24	84					0	0	1	0	0
NUP210L	91181	broad.mit.edu	37	1	153974213	153974213	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:153974213C>T	ENST00000368559.3	-	36	5250	c.5179G>A	c.(5179-5181)Gag>Aag	p.E1727K	NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1727						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TAACATACCTCTAGCTTCCTA	0.398000													40	226					0	0	1	0	0
SPATA9	83890	broad.mit.edu	37	5	94994576	94994576	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:94994576G>C	ENST00000274432.8	-	5	657	c.516C>G	c.(514-516)atC>atG	p.I172M	RFESD_ENST00000508206.1_Intron|SPATA9_ENST00000477047.2_5'UTR	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	172					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		CTTCCTGGAAGATGTTCTTTA	0.383000													22	110					0	0	1	0	0
COL22A1	169044	broad.mit.edu	37	8	139732984	139732984	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:139732984G>C	ENST00000303045.6	-	27	2799	c.2353C>G	c.(2353-2355)Cgg>Ggg	p.R785G	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.R785G	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	785	Collagen-like 6.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTCCATACCCGAAGGCCTGGT	0.483000										HNSCC(7;0.00092)			20	182					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	475238	475238	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:475238G>A	ENST00000399788.2	-	4	761	c.399C>T	c.(397-399)gtC>gtT	p.V133V	KDM5A_ENST00000382815.4_Silent_p.V133V	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	133	ARID.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCTCTTTGGTGACCATTTCAA	0.383000			T	NUP98	AML								61	290					0	0	1	0	0
NR4A2	4929	broad.mit.edu	37	2	157184435	157184435	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:157184435C>T	ENST00000339562.4	-	5	1448	c.1086G>A	c.(1084-1086)gtG>gtA	p.V362V	NR4A2_ENST00000539077.1_Silent_p.V373V|NR4A2_ENST00000426264.1_Silent_p.V299V|NR4A2_ENST00000409572.1_Silent_p.V362V|NR4A2_ENST00000409108.2_Silent_p.V362V|NR4A2_ENST00000429376.1_Silent_p.V299V	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	362	Pro-rich.				cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGATCAGACTCACCGGGGGCG	0.602000													4	6					0	0	1	0	0
COL4A1	1282	broad.mit.edu	37	13	110817222	110817222	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:110817222C>T	ENST00000375820.4	-	46	4258	c.4137G>A	c.(4135-4137)ccG>ccA	p.P1379P		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1379	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTGGCCTTTCGGGCCTGGCA	0.627000													6	11					0	0	1	0	0
LRTM2	654429	broad.mit.edu	37	12	1940420	1940420	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:1940420G>C	ENST00000543818.1	+	4	1229	c.387G>C	c.(385-387)agG>agC	p.R129S	LRTM2_ENST00000535041.1_Missense_Mutation_p.R129S|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000543730.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.R129S	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	129						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			ACAGCATCAGGACCCTGGACA	0.632000											OREG0005740	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=CACNA2D4|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	18	93					0	0	1	0	0
FGF12	2257	broad.mit.edu	37	3	191888250	191888250	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:191888250C>T	ENST00000445105.2	-	5	669	c.424G>A	c.(424-426)Gaa>Aaa	p.E142K	FGF12_ENST00000454309.2_Missense_Mutation_p.E204K|FGF12_ENST00000450716.1_Missense_Mutation_p.E142K|FGF12_ENST00000264730.3_Missense_Mutation_p.E142K|FGF12_ENST00000430714.1_Missense_Mutation_p.E105K	NM_004113.5	NP_004104.3	P61328	FGF12_HUMAN	fibroblast growth factor 12						cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TTCATACCTTCAATAGGTTTC	0.433000													22	98					0	0	1	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622000													43	205					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12462058	12462058	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:12462058T>C	ENST00000242804.4	-	6	923	c.341A>G	c.(340-342)gAt>gGt	p.D114G	ZNF442_ENST00000438182.1_Missense_Mutation_p.D45G	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	114	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACATGGATCTACTCCAGG	0.378000													32	97					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108862221	108862221	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:108862221T>A	ENST00000356922.4	-	2	1668	c.1396A>T	c.(1396-1398)Att>Ttt	p.I466F	LIG4_ENST00000442234.1_Missense_Mutation_p.I466F|LIG4_ENST00000405925.1_Missense_Mutation_p.I466F	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	466					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding	p.I466V(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCTCCAACAATTAAAATGTCC	0.438000								Non-homologous end-joining					42	241					0	0	1	0	0
MORC2	22880	broad.mit.edu	37	22	31334114	31334114	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:31334114G>C	ENST00000397641.3	-	13	1560	c.1152C>G	c.(1150-1152)atC>atG	p.I384M	MORC2_ENST00000469915.1_Intron|MORC2_ENST00000215862.4_Missense_Mutation_p.I322M			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TACAGTTGTAGATGAACATGC	0.443000													12	67					0	0	1	0	0
KDM6B	23135	broad.mit.edu	37	17	7749991	7749991	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:7749991C>T	ENST00000254846.5	+	8	1033	c.644C>T	c.(643-645)tCa>tTa	p.S215L	KDM6B_ENST00000448097.2_Missense_Mutation_p.S215L	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	215	Pro-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						GCAGCACTCTCAGGCCCCTCA	0.637000													18	75					0	0	1	0	0
RBM6	10180	broad.mit.edu	37	3	50005788	50005788	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:50005788G>A	ENST00000443081.1	+	3	1453	c.534G>A	c.(532-534)gtG>gtA	p.V178V	RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000266022.4_Silent_p.V310V|RBM6_ENST00000441115.1_Intron			P78332	RBM6_HUMAN	RNA binding motif protein 6	310					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GTATGAATGTGAACAGGAGAG	0.408000													12	71					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76931749	76931749	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:76931749C>T	ENST00000373344.5	-	10	3995	c.3781G>A	c.(3781-3783)Gat>Aat	p.D1261N	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1223N	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1261	Poly-Asp.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCGTCATCATCATCATCCACT	0.368000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						20	76					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70105551	70105551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:70105551G>A	ENST00000388768.2	-	18	2226	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	RUFY2_ENST00000265865.3_Nonsense_Mutation_p.Q189*|RUFY2_ENST00000602465.1_Nonsense_Mutation_p.Q599*	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	648						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GAGCATCTCTGAATGAGCAGT	0.408000													16	91					0	0	1	0	0
AMY2B	280	broad.mit.edu	37	1	104114773	104114773	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:104114773C>T	ENST00000361355.4	+	4	826	c.210C>T	c.(208-210)ttC>ttT	p.F70F	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	70					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACAACCCTTTCAGACCTTGGT	0.343000													11	288					0	0	1	0	0
MGLL	11343	broad.mit.edu	37	3	127540569	127540569	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:127540569G>C	ENST00000434178.2	-	2	989	c.93C>G	c.(91-93)ttC>ttG	p.F31L	MGLL_ENST00000265052.5_Missense_Mutation_p.F41L|MGLL_ENST00000453507.2_Missense_Mutation_p.F41L|MGLL_ENST00000398104.1_Missense_Mutation_p.F31L			Q99685	MGLL_HUMAN	monoglyceride lipase	31					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						AGTACCTGCAGAAGAGGTACT	0.592000													9	62					0	0	1	0	0
AVPR1A	552	broad.mit.edu	37	12	63541315	63541315	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:63541315G>C	ENST00000299178.2	-	2	1186	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	361					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GGGAAGCTTTGAACACAGTCT	0.413000													28	140					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4789780	4789780	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:4789780C>G	ENST00000355280.6	+	10	1004	c.808C>G	c.(808-810)Ctc>Gtc	p.L270V	MINK1_ENST00000347992.7_Missense_Mutation_p.L270V|MINK1_ENST00000453408.3_Missense_Mutation_p.L270V	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	270	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGACACATGTCTCATCAAGAC	0.567000													26	161					0	0	1	0	0
GRID2	2895	broad.mit.edu	37	4	94690400	94690400	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:94690400G>A	ENST00000282020.4	+	15	2658	c.2400G>A	c.(2398-2400)ctG>ctA	p.L800L	GRID2_ENST00000510992.1_Silent_p.L705L	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	800					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGACATCCTGAAGCACAAAT	0.488000													17	65					0	0	1	0	0
PDP2	57546	broad.mit.edu	37	16	66919543	66919543	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:66919543G>A	ENST00000311765.2	+	2	1690	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	452					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GGCTCATGCAGAGCCTGCTGC	0.612000													15	35					0	0	1	0	0
MFN2	9927	broad.mit.edu	37	1	12061836	12061836	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:12061836C>T	ENST00000235329.5	+	10	1303	c.981C>T	c.(979-981)ctC>ctT	p.L327L	MFN2_ENST00000444836.1_Silent_p.L327L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	327					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GGGGCGCTCTCGCAGAAGGCT	0.488000											OREG0013107	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	69	305					0	0	1	0	0
XPO1	7514	broad.mit.edu	37	2	61708412	61708412	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:61708412G>C	ENST00000401558.2	-	24	3704	c.2977C>G	c.(2977-2979)Caa>Gaa	p.Q993E	XPO1_ENST00000406957.1_Missense_Mutation_p.Q993E|XPO1_ENST00000404992.2_Missense_Mutation_p.Q993E|RP11-355B11.2_ENST00000578974.2_RNA|RP11-355B11.2_ENST00000603028.1_RNA|RP11-355B11.2_ENST00000603652.1_RNA	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	993					intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			AGCTTTACTTGAGCACTGCAA	0.373000			Mis		CLL								5	52					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40914042	40914042	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:40914042C>T	ENST00000346991.5	+	11	2048	c.1658C>T	c.(1657-1659)tCa>tTa	p.S553L	CASC5_ENST00000399668.2_Missense_Mutation_p.S527L|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	553	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATGACCACATCAGAAGATGGG	0.343000													9	74					0	0	1	0	0
PRKD3	23683	broad.mit.edu	37	2	37487426	37487426	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:37487426C>G	ENST00000379066.1	-	15	2748	c.1986G>C	c.(1984-1986)atG>atC	p.M662I	PRKD3_ENST00000234179.2_Missense_Mutation_p.M662I			O94806	KPCD3_HUMAN	protein kinase D3	662	Protein kinase.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				TGGATAGAATCATTTCCAACA	0.363000													17	78					0	0	1	0	0
LAMC2	3918	broad.mit.edu	37	1	183201368	183201368	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:183201368C>G	ENST00000264144.4	+	13	1969	c.1904C>G	c.(1903-1905)tCa>tGa	p.S635*	LAMC2_ENST00000493293.1_Nonsense_Mutation_p.S635*	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	635	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCCCTGATTTCAAAGGCTCAG	0.527000													24	146					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49888605	49888605	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:49888605C>G	ENST00000553127.1	+	8	859	c.346C>G	c.(346-348)Caa>Gaa	p.Q116E	SPATS2_ENST00000552918.1_Missense_Mutation_p.Q116E|SPATS2_ENST00000552557.1_3'UTR|SPATS2_ENST00000321898.6_Missense_Mutation_p.Q116E			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	116						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						AGTTTCCATTCAAGAGGAACA	0.423000													6	40					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31682636	31682636	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:31682636A>T	ENST00000319386.3	+	11	2201	c.1208A>T	c.(1207-1209)tAt>tTt	p.Y403F	CCDC129_ENST00000451887.2_Missense_Mutation_p.Y577F|CCDC129_ENST00000407970.3_Missense_Mutation_p.Y551F|CCDC129_ENST00000409210.1_Missense_Mutation_p.Y459F			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	551										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CATGCTGAGTATGAGGTCACC	0.527000													28	178					0	0	1	0	0
TMEM184C	55751	broad.mit.edu	37	4	148555556	148555556	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:148555556G>C	ENST00000296582.3	+	10	1862	c.1288G>C	c.(1288-1290)Gaa>Caa	p.E430Q	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	430						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						AGAGAAAAAAGAACCTTCAGA	0.403000													10	50					0	0	1	0	0
LRIF1	55791	broad.mit.edu	37	1	111490848	111490848	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:111490848G>A	ENST00000369763.4	-	4	2433	c.2043C>T	c.(2041-2043)ctC>ctT	p.L681L	LRIF1_ENST00000485275.2_Silent_p.L145L|LRIF1_ENST00000494675.1_Silent_p.L145L|RP11-96K19.2_ENST00000440689.1_RNA	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	681					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTGACTCGTGAGAATGTTAT	0.398000													33	170					0	0	1	0	0
KLHL40	131377	broad.mit.edu	37	3	42727309	42727309	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:42727309G>C	ENST00000287777.4	+	1	299	c.199G>C	c.(199-201)Gag>Cag	p.E67Q		NM_152393.2	NP_689606.2			kelch-like family member 40																		AGCCGAGCCGGAGCGCGCGGG	0.701000													6	18					0	0	1	0	0
KLF7	8609	broad.mit.edu	37	2	207988724	207988724	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:207988724C>T	ENST00000309446.6	-	2	883	c.507G>A	c.(505-507)aaG>aaA	p.K169K	KLF7_ENST00000421199.1_Silent_p.K136K|KLF7_ENST00000412414.2_Silent_p.K141K|KLF7_ENST00000467833.1_Intron|KLF7_ENST00000423015.1_Silent_p.K169K|KLF7_ENST00000458272.1_Intron	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	169					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		GAGCAGCCTTCTTGGCCACCA	0.612000													12	78					0	0	1	0	0
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977339	29977339	+	RNA	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:29977339G>A	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							GTGTGGGACTGAGAGGCAAGA	0.438000													10	73					0	0	1	0	0
NES	10763	broad.mit.edu	37	1	156639168	156639168	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:156639168C>T	ENST00000368223.3	-	4	4944	c.4812G>A	c.(4810-4812)ctG>ctA	p.L1604L		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1604	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAGTGAACTTCAGGAACTGAC	0.617000													10	72					0	0	1	0	0
TMEM119	338773	broad.mit.edu	37	12	108985794	108985794	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:108985794C>T	ENST00000392806.3	-	2	534	c.366G>A	c.(364-366)caG>caA	p.Q122Q		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	122						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						CCGAGGCCTTCTGCTTCTGCC	0.617000													7	33					0	0	1	0	0
ORM2	5005	broad.mit.edu	37	9	117092756	117092756	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:117092756G>A	ENST00000412657.1	+	1	605	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	ORM2_ENST00000431067.2_Missense_Mutation_p.E53K					orosomucoid 2											breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)				CTTTCGAAACGAGGAGTACAA	0.502000													11	57					0	0	1	0	0
EIF4A1	1973	broad.mit.edu	37	17	7480706	7480706	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:7480706G>A	ENST00000293831.8	+	7	685	c.669G>A	c.(667-669)gtG>gtA	p.V223V	EIF4A1_ENST00000577269.1_Silent_p.V223V|EIF4A1_ENST00000582746.1_Silent_p.V223V|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	223	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TGCTTGAGGTGACCAAGAAGT	0.512000													12	100					0	0	1	0	0
OR2C1	4993	broad.mit.edu	37	16	3406126	3406126	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:3406126C>G	ENST00000304936.2	+	1	238	c.186C>G	c.(184-186)ttC>ttG	p.F62L		NM_012368.2	NP_036500.2	O95371	OR2C1_HUMAN	olfactory receptor, family 2, subfamily C, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGTACTTCTTCCTCAGCAACC	0.517000													19	115					0	0	1	0	0
RBMS2	5939	broad.mit.edu	37	12	56974983	56974983	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:56974983G>C	ENST00000262031.5	+	6	653	c.558G>C	c.(556-558)gaG>gaC	p.E186D	RBMS2_ENST00000552247.2_Missense_Mutation_p.E186D|RBMS2_ENST00000550726.1_Missense_Mutation_p.E61D|RBMS2_ENST00000542360.1_Missense_Mutation_p.E41D	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	186	RRM 2.				RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						AGTCCACAGAGAAGTGTGAAG	0.493000													22	177					0	0	1	0	0
CCDC81	60494	broad.mit.edu	37	11	86097120	86097120	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:86097120C>G	ENST00000445632.2	+	2	379	c.107C>G	c.(106-108)tCa>tGa	p.S36*	CCDC81_ENST00000278487.3_5'UTR|CCDC81_ENST00000354755.1_Nonsense_Mutation_p.S36*	NM_001156474.1	NP_001149946.1	Q6ZN84	CCD81_HUMAN	coiled-coil domain containing 81	36										kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				GGGAATGTATCAGAATTTGTG	0.284000													6	69					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38172276	38172276	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:38172276C>A	ENST00000317025.8	-	12	2648	c.2131G>T	c.(2131-2133)Ggt>Tgt	p.G711C	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.G711C|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.G711C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	711					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGAGAGTCACCAGAGCTTTCA	0.463000			T	NUP98	AML								4	50					2.56e-06	2.61958e-06	1	1	0
IL17RE	132014	broad.mit.edu	37	3	9953193	9953193	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:9953193C>G	ENST00000454190.2	+	12	1224	c.1139C>G	c.(1138-1140)tCa>tGa	p.S380*	IL17RE_ENST00000421412.1_Nonsense_Mutation_p.S413*|IL17RE_ENST00000295980.3_Nonsense_Mutation_p.S380*|IL17RE_ENST00000383814.3_Nonsense_Mutation_p.S380*	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	380						cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		CACTTCTCCTCAAGAATGCAT	0.582000													21	186					0	0	1	0	0
RAPGEF1	2889	broad.mit.edu	37	9	134463382	134463382	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:134463382C>G	ENST00000372195.1	-	18	2821	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.E861Q|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.E843Q			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	843	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TCCGCTATCTCATGGCTGTGA	0.602000													4	24					0	0	1	0	0
ADCY6	112	broad.mit.edu	37	12	49170016	49170016	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:49170016G>A	ENST00000307885.4	-	7	2347	c.1653C>T	c.(1651-1653)ctC>ctT	p.L551L	ADCY6_ENST00000357869.3_Silent_p.L551L|ADCY6_ENST00000552090.1_5'UTR|ADCY6_ENST00000550422.1_Silent_p.L551L	NM_015270.3	NP_056085.1	O43306	ADCY6_HUMAN	adenylate cyclase 6	551					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CGCCCAGGATGAGGAAAGTCT	0.647000													10	68					0	0	1	0	0
BROX	148362	broad.mit.edu	37	1	222902118	222902118	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:222902118C>G	ENST00000340934.5	+	9	1110	c.704C>G	c.(703-705)tCt>tGt	p.S235C	BROX_ENST00000537020.1_Missense_Mutation_p.S235C|BROX_ENST00000539697.1_Missense_Mutation_p.S203C	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	235	BRO1.					membrane				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						CCTGCATATTCTGCCAAATGG	0.323000													10	50					0	0	1	0	0
SNHG1	23642	broad.mit.edu	37	11	62620418	62620418	+	RNA	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:62620418C>G	ENST00000384756.1	-	0	89					NR_000008.2																						AAATCTTCCTCTTCTCCCCCA	0.408000													17	72					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021889	73021889	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:73021889G>A	ENST00000263674.3	+	1	2556	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	736					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GTCCCTGAGTGACCCAATTCC	0.627000													14	60					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39919384	39919384	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:39919384C>T	ENST00000564288.1	+	88	21525	c.20748C>T	c.(20746-20748)ttC>ttT	p.F6916F	MACF1_ENST00000545844.1_Silent_p.F4857F|MACF1_ENST00000567887.1_Silent_p.F6953F|MACF1_ENST00000289893.4_Silent_p.F5359F|MACF1_ENST00000317713.7_Silent_p.F4857F|MACF1_ENST00000372915.3_Silent_p.F6815F|MACF1_ENST00000361689.2_Silent_p.F4857F|MACF1_ENST00000539005.1_Silent_p.F4727F			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6926					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTAGGAATTCATGAAGAAAG	0.398000													18	126					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100933355	100933355	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:100933355G>C	ENST00000325455.5	-	4	3488	c.2035C>G	c.(2035-2037)Caa>Gaa	p.Q679E	PGR_ENST00000534013.1_Missense_Mutation_p.Q85E|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	679					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TGTATGTCTTGACCTGGTGAA	0.478000													29	180					0	0	1	0	0
TARSL2	123283	broad.mit.edu	37	15	102242448	102242448	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:102242448G>A	ENST00000335968.3	-	9	1431	c.1215C>T	c.(1213-1215)atC>atT	p.I405I		NM_152334.2	NP_689547.2	A2RTX5	SYTC2_HUMAN	threonyl-tRNA synthetase-like 2	405					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATACCTTCCCGATCTTCCTGT	0.393000													21	138					0	0	1	0	0
DAAM2	23500	broad.mit.edu	37	6	39867939	39867939	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:39867939C>T	ENST00000538976.1	+	23	2945	c.2763C>T	c.(2761-2763)ttC>ttT	p.F921F	DAAM2_ENST00000398904.2_Silent_p.F922F|DAAM2_ENST00000274867.4_Silent_p.F922F	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	922	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCCAGCTTCAGCTTCTCCG	0.582000													4	19					0	0	1	0	0
C7orf63	79846	broad.mit.edu	37	7	89897610	89897610	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:89897610G>A	ENST00000389297.4	+	6	695	c.444G>A	c.(442-444)atG>atA	p.M148I	C7orf63_ENST00000316089.8_Missense_Mutation_p.M148I|C7orf63_ENST00000497910.1_Missense_Mutation_p.M148I|C7orf63_ENST00000463311.1_3'UTR|AC002064.4_ENST00000420245.1_RNA	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	148							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GTGACTTAATGAAAATACCAA	0.308000													11	34					0	0	1	0	0
NRXN2	9379	broad.mit.edu	37	11	64453336	64453336	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:64453336C>T	ENST00000265459.6	-	6	1395	c.934G>A	c.(934-936)Gat>Aat	p.D312N	NRXN2_ENST00000377551.1_Missense_Mutation_p.D312N|NRXN2_ENST00000409571.1_Missense_Mutation_p.D312N|NRXN2_ENST00000377559.3_Missense_Mutation_p.D288N	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN	neurexin 2	312	Laminin G-like 2.				cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GTGATCTCATCAGTGCTGCTC	0.577000													15	91					0	0	1	0	0
TBL3	10607	broad.mit.edu	37	16	2028430	2028430	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:2028430G>A	ENST00000568546.1	+	21	2379	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	751					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCTGGCCTACGAAGGCGTGCG	0.692000													14	48					0	0	1	0	0
C14orf2	9556	broad.mit.edu	37	14	104381498	104381498	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:104381498C>T	ENST00000553430.1	-	2	88	c.29G>A	c.(28-30)tGg>tAg	p.W10*	C14orf2_ENST00000555030.1_Nonsense_Mutation_p.W10*|C14orf2_ENST00000414262.2_Nonsense_Mutation_p.W27*|C14orf2_ENST00000554880.1_Nonsense_Mutation_p.W10*|C14orf2_ENST00000286953.3_Nonsense_Mutation_p.W10*|C14orf2_ENST00000554713.1_Nonsense_Mutation_p.W10*|C14orf2_ENST00000557040.1_Nonsense_Mutation_p.W10*|C14orf2_ENST00000553449.1_Intron			P56378	68MP_HUMAN	chromosome 14 open reading frame 2	10						mitochondrion				kidney(1)	1				Epithelial(152;0.223)		CATGGGGATCCATATGTTTTT	0.363000													16	58					0	0	1	0	0
RUFY2	55680	broad.mit.edu	37	10	70105566	70105566	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:70105566G>A	ENST00000388768.2	-	18	2211	c.1885C>T	c.(1885-1887)Cat>Tat	p.H629Y	RUFY2_ENST00000265865.3_Missense_Mutation_p.H184Y|RUFY2_ENST00000602465.1_Missense_Mutation_p.H594Y	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	643						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AGCAGTGCATGACAGGAATCA	0.408000													14	105					0	0	1	0	0
ACOT11	26027	broad.mit.edu	37	1	55051512	55051512	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:55051512G>C	ENST00000371316.3	+	3	328	c.246G>C	c.(244-246)gaG>gaC	p.E82D	ACOT11_ENST00000343744.2_Missense_Mutation_p.E82D|ACOT11_ENST00000481208.1_Intron	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	82	Acyl coenzyme A hydrolase 1.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CACCAGCGGAGAGGCACGCTG	0.597000													5	40					0	0	1	0	0
CRNKL1	51340	broad.mit.edu	37	20	20031137	20031137	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:20031137C>T	ENST00000377340.2	-	3	695	c.664G>A	c.(664-666)Gat>Aat	p.D222N	CRNKL1_ENST00000377327.4_Missense_Mutation_p.D210N|CRNKL1_ENST00000536226.1_Missense_Mutation_p.D61N	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	222					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						AGTTTATAATCATTTAATTCT	0.388000													13	60					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130241761	130241761	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:130241761G>A	ENST00000323301.4	+	12	1484	c.880G>A	c.(880-882)Gag>Aag	p.E294K	LRSAM1_ENST00000373322.1_Missense_Mutation_p.E294K|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E294K|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E294K	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	294					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CCAGAAGGATGAGATCCTTCA	0.617000													5	26					0	0	1	0	0
MLIP	90523	broad.mit.edu	37	6	53989646	53989646	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:53989646C>T	ENST00000514921.1	+	3	708	c.595C>T	c.(595-597)Cag>Tag	p.Q199*	MLIP_ENST00000509997.1_Nonsense_Mutation_p.Q147*|MLIP_ENST00000370876.2_Nonsense_Mutation_p.Q137*|MLIP_ENST00000502396.1_Nonsense_Mutation_p.Q210*|MLIP_ENST00000370877.2_Nonsense_Mutation_p.Q147*|MLIP_ENST00000274897.5_Nonsense_Mutation_p.Q199*|MLIP_ENST00000511744.1_3'UTR|MLIP_ENST00000358276.5_Nonsense_Mutation_p.Q193*	NM_001281746.1	NP_001268675.1	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	199						nuclear envelope|PML body	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GATGGCCCCTCAGCAAAAGCA	0.498000													12	48					0	0	1	0	0
MYBL1	4603	broad.mit.edu	37	8	67478985	67478985	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:67478985G>C	ENST00000522677.3	-	14	2294	c.1884C>G	c.(1882-1884)gtC>gtG	p.V628V	MYBL1_ENST00000517885.1_Silent_p.V286V|MYBL1_ENST00000522419.1_5'UTR|MYBL1_ENST00000524176.2_Silent_p.V628V	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	628					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AATTATCTAAGACTAGTGATT	0.328000													4	26					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6697514	6697514	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:6697514C>G	ENST00000245907.6	-	21	2729	c.2637G>C	c.(2635-2637)aaG>aaC	p.K879N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	879					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTGACGCCTCTTGGTGGTGG	0.582000													8	38					0	0	1	0	0
BMP2K	55589	broad.mit.edu	37	4	79792085	79792085	+	Missense_Mutation	SNP	G	G	C	rs71828885		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:79792085G>C	ENST00000335016.5	+	11	1546	c.1380G>C	c.(1378-1380)caG>caC	p.Q460H	BMP2K_ENST00000502871.1_Missense_Mutation_p.Q460H	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	460	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity	p.Q460H(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ATCCTCACcagcagcagcagc	0.577000													4	45					0	0	1	0	0
NISCH	11188	broad.mit.edu	37	3	52526301	52526301	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:52526301C>T	ENST00000345716.4	+	21	4452	c.4318C>T	c.(4318-4320)Cat>Tat	p.H1440Y	NISCH_ENST00000479054.1_Missense_Mutation_p.H1440Y	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1440					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CGTGCAAGGTCATGACCTCAT	0.652000													35	201					0	0	1	0	0
ZCCHC24	219654	broad.mit.edu	37	10	81154159	81154159	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:81154159C>T	ENST00000372336.3	-	3	671	c.485G>A	c.(484-486)gGc>gAc	p.G162D	ZCCHC24_ENST00000372333.3_Silent_p.G102G|RP11-342M3.5_ENST00000438554.2_RNA	NM_153367.3	NP_699198.2	Q8N2G6	ZCH24_HUMAN	zinc finger, CCHC domain containing 24	162							nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)	9						GCGCTTTTTGCCCTGGTATGG	0.582000													4	85					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28508223	28508223	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:28508223G>C	ENST00000261609.7	-	15	2071	c.1963C>G	c.(1963-1965)Caa>Gaa	p.Q655E		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	655					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCCAAGTCTTGAAGCTTTTCA	0.463000													12	116					0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89795702	89795702	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:89795702C>T	ENST00000289816.5	+	6	1232	c.920C>T	c.(919-921)tCc>tTc	p.S307F	ZNF276_ENST00000568064.1_Missense_Mutation_p.S290F|ZNF276_ENST00000446326.2_Missense_Mutation_p.S168F|ZNF276_ENST00000443381.2_Missense_Mutation_p.S382F	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TCGGACGAGTCCTTTGAGCCT	0.547000													37	74					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050020	42050020	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:42050020G>A	ENST00000372584.1	-	3	1463	c.449C>T	c.(448-450)tCc>tTc	p.S150F	HIVEP3_ENST00000372583.1_Missense_Mutation_p.S150F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S150F|HIVEP3_ENST00000429157.2_Missense_Mutation_p.S150F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	150					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GGGAATGATGGAAGCGTGGGA	0.602000													23	128					0	0	1	0	0
FAM195A	84331	broad.mit.edu	37	16	697517	697517	+	Missense_Mutation	SNP	G	G	A	rs140456076	by1000genomes	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:697517G>A	ENST00000307650.4	+	3	462	c.283G>A	c.(283-285)Gag>Aag	p.E95K		NM_138418.2	NP_612427.2	Q9BUT9	F195A_HUMAN	family with sequence similarity 195, member A	95										haematopoietic_and_lymphoid_tissue(1)|kidney(1)	2						AGTGGCCCACGAGGAGAATGT	0.642000													4	25					0	0	1	0	0
NRM	11270	broad.mit.edu	37	6	30657907	30657907	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:30657907C>T	ENST00000259953.4	-	3	598	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376420.5_Missense_Mutation_p.E83K|NRM_ENST00000376421.5_Missense_Mutation_p.E83K	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	83						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						TTCACTCTTTCAGCTGCCATG	0.607000													10	78					0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56514595	56514595	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:56514595G>A	ENST00000257940.2	+	3	525	c.249G>A	c.(247-249)caG>caA	p.Q83Q	RP11-603J24.5_ENST00000549438.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	83							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			ATGACTTCCAGAACAAGGAGT	0.552000													13	87					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47874172	47874172	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:47874172G>T	ENST00000259021.4	+	3	504	c.224G>T	c.(223-225)aGa>aTa	p.R75I	KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000424009.2_Missense_Mutation_p.R75I|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000509773.1_Missense_Mutation_p.R75I	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	75					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										TACTCTACCAGAAGAGTGACC	0.453000													26	141					5.24475e-26	5.48164e-26	1	1	0
LRRIQ4	344657	broad.mit.edu	37	3	169539714	169539714	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:169539714C>G	ENST00000340806.6	+	1	5	c.5C>G	c.(4-6)tCa>tGa	p.S2*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	2										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ACAATAATGTCAAAAGACATA	0.313000													4	49					0	0	1	0	0
KIF21B	23046	broad.mit.edu	37	1	200973999	200973999	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:200973999G>A	ENST00000332129.2	-	6	1111	c.795C>T	c.(793-795)ctC>ctT	p.L265L	KIF21B_ENST00000360529.5_Silent_p.L265L|KIF21B_ENST00000422435.2_Silent_p.L265L|KIF21B_ENST00000461742.2_Silent_p.L265L	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	265	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTTAGCAGTGAGTGTCTCAT	0.597000													7	59					0	0	1	0	0
TOP3B	8940	broad.mit.edu	37	22	22322079	22322079	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:22322079C>T	ENST00000398793.2	-	8	1182	c.748G>A	c.(748-750)Gac>Aac	p.D250N	TOP3B_ENST00000413067.2_5'UTR|TOP3B_ENST00000357179.5_Missense_Mutation_p.D250N	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	250					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		CTGTCTTTGTCAGTGTTAACC	0.483000													7	55					0	0	1	0	0
FAM120A	23196	broad.mit.edu	37	9	96305684	96305684	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:96305684C>T	ENST00000277165.6	+	11	2284	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	FAM120A_ENST00000333936.5_Missense_Mutation_p.S725L|FAM120A_ENST00000340893.4_Missense_Mutation_p.S697L	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	697						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCATGAGGTCGGACACCCCA	0.622000													4	112					0	0	1	0	0
SETD3	84193	broad.mit.edu	37	14	99932065	99932065	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:99932065C>T	ENST00000331768.5	-	2	237	c.78G>A	c.(76-78)ttG>ttA	p.L26L	SETD3_ENST00000453938.1_5'UTR|SETD3_ENST00000436070.2_Silent_p.L26L|SETD3_ENST00000329331.3_Silent_p.L26L	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	26					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TGGTCAGGTTCAAGATTTCCT	0.478000													14	75					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63682398	63682398	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:63682398C>G	ENST00000301459.4	-	4	681	c.294G>C	c.(292-294)gaG>gaC	p.E98D		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	98	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						AGCCATGCTTCTCCTTGGCCA	0.612000													24	121					0	0	1	0	0
ZNF451	26036	broad.mit.edu	37	6	57025901	57025901	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:57025901C>T	ENST00000370706.4	+	14	3334	c.3090C>T	c.(3088-3090)aaC>aaT	p.N1030N	RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|ZNF451_ENST00000357489.3_Silent_p.N982N|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586466.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	1030					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GTGATGATAACATGGGTGCCA	0.299000													14	116					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57327097	57327097	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:57327097G>C	ENST00000326441.9	-	10	3076	c.2713C>G	c.(2713-2715)Cag>Gag	p.Q905E	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.Q905E|PEG3_ENST00000593695.1_Missense_Mutation_p.Q779E|PEG3_ENST00000598410.1_Missense_Mutation_p.Q781E|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	905					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACACTTTTCTGAGGTTTGGCA	0.483000													4	121					0	0	1	0	0
ZNF814	730051	broad.mit.edu	37	19	58385386	58385386	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:58385386G>T	ENST00000435989.2	-	3	1606	c.1372C>A	c.(1372-1374)Cac>Aac	p.H458N	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	458					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCCGGCGTGAACTCGTTGA	0.448000													7	26					0.248553	0.248553	1	1	0
SQRDL	58472	broad.mit.edu	37	15	45968325	45968325	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:45968325C>T	ENST00000260324.7	+	6	1067	c.681C>T	c.(679-681)atC>atT	p.I227I	SQRDL_ENST00000568606.1_Silent_p.I227I|RP11-96O20.4_ENST00000564080.1_Silent_p.I227I	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	227							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		AGGCCAATATCATTTTCAACA	0.428000													29	187					0	0	1	0	0
KIAA1211L	343990	broad.mit.edu	37	2	99449420	99449420	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:99449420C>T	ENST00000397899.2	-	4	611	c.280G>A	c.(280-282)Gac>Aac	p.D94N	KIAA1211L_ENST00000462314.1_Intron	NM_207362.2	NP_997245.2			KIAA1211-like																		AAAATACTGTCGTGAGAAAGG	0.557000													28	144					0	0	1	0	0
HCCAT5	283902	broad.mit.edu	37	16	73127109	73127109	+	RNA	SNP	A	A	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:73127109A>T	ENST00000569990.2	+	0	767					NR_027756.1																						GCGCATGCAGAGGTAAGGGAA	0.542000													9	17					0	0	1	0	0
PAPPA	5069	broad.mit.edu	37	9	118949460	118949460	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:118949460C>T	ENST00000328252.3	+	2	812	c.443C>T	c.(442-444)tCa>tTa	p.S148L		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	148					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TCTTATATCTCACGTGACCGA	0.458000													9	61					0	0	1	0	0
FAM207A	85395	broad.mit.edu	37	21	46363700	46363700	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:46363700C>T	ENST00000291634.6	+	2	279	c.231C>T	c.(229-231)gtC>gtT	p.V77V	FAM207A_ENST00000397826.3_Silent_p.V77V	NM_058190.2	NP_478070.1	Q9NSI2	CU070_HUMAN	family with sequence similarity 207, member A	77																	TCACTTCCGTCAGGAGAGGTG	0.597000													10	58					0	0	1	0	0
TRAV8-4	28682	broad.mit.edu	37	14	22362696	22362696	+	RNA	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:22362696C>T	ENST00000390438.2	+	0	84																											CCCTTGGCTTCTGTCCGCTCT	0.562000											OREG0022572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	26					0	0	1	0	0
MRC2	9902	broad.mit.edu	37	17	60769597	60769597	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:60769597C>T	ENST00000303375.5	+	30	4627	c.4225C>T	c.(4225-4227)Cca>Tca	p.P1409S	MRC2_ENST00000446119.2_Missense_Mutation_p.P275S	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1409					endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGCAGCGCTTCCAGAGAACCC	0.652000													4	19					0	0	1	0	0
ACTB	60	broad.mit.edu	37	7	5569226	5569226	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:5569226G>T	ENST00000331789.5	-	2	254	c.63C>A	c.(61-63)ttC>ttA	p.F21L		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	21					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CGTCGCCCGCGAAGCCGGCCT	0.716000													8	31					1.12685e-05	1.14773e-05	1	1	0
SETD1A	9739	broad.mit.edu	37	16	30977267	30977267	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:30977267C>G	ENST00000262519.8	+	8	2751	c.2065C>G	c.(2065-2067)Cgg>Ggg	p.R689G		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.R689W(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						GATGTTAACTCGGCTCCATCA	0.617000													9	136					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166903421	166903421	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:166903421G>C	ENST00000423058.2	-	9	1253	c.1236C>G	c.(1234-1236)ttC>ttG	p.F412L	SCN1A_ENST00000303395.4_Missense_Mutation_p.F412L|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.F412L|SCN1A_ENST00000409050.1_Missense_Mutation_p.F412L|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	412						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTATTAGGTAGAATGAGCCCA	0.408000													22	109					0	0	1	0	0
TOX4	9878	broad.mit.edu	37	14	21957551	21957551	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:21957551G>C	ENST00000405508.1	+	6	1075	c.799G>C	c.(799-801)Gag>Cag	p.E267Q	TOX4_ENST00000262709.3_Missense_Mutation_p.E267Q|TOX4_ENST00000448790.2_Missense_Mutation_p.E244Q			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	267						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTTGGAGAGGAGCAAAAACA	0.393000													20	86					0	0	1	0	0
M1AP	130951	broad.mit.edu	37	2	74834320	74834320	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:74834320C>G	ENST00000290536.5	-	4	573	c.457G>C	c.(457-459)Gag>Cag	p.E153Q	M1AP_ENST00000536235.1_Missense_Mutation_p.E153Q|M1AP_ENST00000409585.1_Missense_Mutation_p.E153Q|M1AP_ENST00000358434.2_5'UTR	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2			meiosis 1 associated protein																		TTGACCACCTCTTTTCCAGGC	0.438000													26	124					0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130829083	130829083	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:130829083C>T	ENST00000373078.4	-	1	517	c.298G>A	c.(298-300)Gag>Aag	p.E100K		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	100	Gly-rich.				apoptosis|induction of apoptosis	nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGTCCTCCTCAGTGGGCCCC	0.677000													18	59					0	0	1	0	0
TRPM7	54822	broad.mit.edu	37	15	50888505	50888505	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:50888505G>C	ENST00000313478.7	-	23	3518	c.3237C>G	c.(3235-3237)gtC>gtG	p.V1079V	TRPM7_ENST00000560955.1_Silent_p.V1079V	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1079					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAAAGAGGTAGACTGCTTGAA	0.318000													17	114					0	0	1	0	0
PCDHA5	56143	broad.mit.edu	37	5	140203314	140203314	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:140203314G>A	ENST00000529859.1	+	1	1954	c.1954G>A	c.(1954-1956)Gac>Aac	p.D652N	PCDHA5_ENST00000378126.3_Missense_Mutation_p.D652N|PCDHA5_ENST00000529619.1_Missense_Mutation_p.D652N|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGAAGGACCATGGAGA	0.672000													15	80					0	0	1	0	0
CASK	8573	broad.mit.edu	37	X	41414878	41414878	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:41414878G>A	ENST00000318588.9	-	20	1862	c.1817C>T	c.(1816-1818)tCa>tTa	p.S606L	CASK_ENST00000378166.4_Missense_Mutation_p.S606L|CASK_ENST00000361962.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000442742.2_Missense_Mutation_p.S583L|CASK_ENST00000472704.1_5'UTR|CASK_ENST00000378163.1_Missense_Mutation_p.S606L|CASK_ENST00000421587.2_Missense_Mutation_p.S577L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	606					cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						TTGGGTAGTTGATGGCAAGTC	0.353000													8	26					0	0	1	0	0
SRCIN1	80725	broad.mit.edu	37	17	36715948	36715948	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:36715948G>C	ENST00000264659.7	-	10	2122	c.1898C>G	c.(1897-1899)tCg>tGg	p.S633W	SRCIN1_ENST00000578925.1_Missense_Mutation_p.S667W|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	505					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GCTGCTGGCCGAGGGCGGGGG	0.701000													5	12					0	0	1	0	0
CTU2	348180	broad.mit.edu	37	16	88779732	88779732	+	Silent	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:88779732C>A	ENST00000567949.1	+	8	972	c.963C>A	c.(961-963)atC>atA	p.I321I	CTU2_ENST00000453996.2_Silent_p.I250I|CTU2_ENST00000312060.5_Silent_p.I250I|CTU2_ENST00000378384.3_Silent_p.I163I			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	250					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						CCCACCTGATCCTCCACATGG	0.662000													14	43					0.00316338	0.00318755	1	1	0
LRP12	29967	broad.mit.edu	37	8	105509479	105509479	+	Missense_Mutation	SNP	T	T	C	rs146849446		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:105509479T>C	ENST00000276654.5	-	5	1409	c.1301A>G	c.(1300-1302)aAc>aGc	p.N434S	LRP12_ENST00000424843.2_Missense_Mutation_p.N415S	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	434	LDL-receptor class A 4.				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTCTGGTAGTTGCAGCGATC	0.408000													19	103					0	0	1	0	0
ZBED1	9189	broad.mit.edu	37	X	2408602	2408602	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:2408602C>G	ENST00000381223.4	-	2	362	c.159G>C	c.(157-159)caG>caC	p.Q53H	ZBED1_ENST00000381218.3_Missense_Mutation_p.Q53H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.Q53H	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	53						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		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)				AGTAGGCGATCTGGGCCATGC	0.562000													20	128					0	0	1	0	0
PTPLAD1	51495	broad.mit.edu	37	15	65849213	65849213	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:65849213C>G	ENST00000261875.5	+	4	507	c.341C>G	c.(340-342)tCt>tGt	p.S114C	PTPLAD1_ENST00000565299.1_Missense_Mutation_p.S152C|PTPLAD1_ENST00000568793.1_Missense_Mutation_p.S89C|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000442729.2_Intron|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000562901.1_5'UTR	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	114					activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTGGATGAATCTGATGCGGAA	0.478000													3	13					0	0	1	0	0
UFL1	23376	broad.mit.edu	37	6	97001173	97001173	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:97001173C>T	ENST00000369278.4	+	19	2245	c.2179C>T	c.(2179-2181)Ctt>Ttt	p.L727F		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	727					negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity										TCAGCATGCTCTTTTGGTAAA	0.343000													10	50					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42003121	42003121	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:42003121G>C	ENST00000219905.7	+	8	2839	c.2658G>C	c.(2656-2658)ttG>ttC	p.L886F	MGA_ENST00000389936.4_Missense_Mutation_p.L886F|MGA_ENST00000570161.1_Missense_Mutation_p.L886F|MGA_ENST00000545763.1_Missense_Mutation_p.L886F|MGA_ENST00000566586.1_Missense_Mutation_p.L886F	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	886						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTTATTCTTTGAAACCTCATT	0.403000													24	137					0	0	1	0	0
BGN	633	broad.mit.edu	37	X	152772350	152772350	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:152772350G>C	ENST00000331595.4	+	6	925	c.739G>C	c.(739-741)Gag>Cag	p.E247Q	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	247						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGAACTGGAGGACCTGCT	0.612000													22	32					0	0	1	0	0
ILK	3611	broad.mit.edu	37	11	6629658	6629658	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:6629658A>G	ENST00000396751.2	+	3	746	c.290A>G	c.(289-291)aAt>aGt	p.N97S	ILK_ENST00000420936.2_Missense_Mutation_p.N97S|ILK_ENST00000537806.1_5'UTR|ILK_ENST00000299421.4_Missense_Mutation_p.N97S|ILK_ENST00000528995.1_Missense_Mutation_p.N97S	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	97	Interaction with LIMS1.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		AATGCAGTGAATGAACACGGG	0.488000													3	68					0	0	1	0	0
PKLR	5313	broad.mit.edu	37	1	155263300	155263300	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:155263300C>G	ENST00000392414.3	-	8	1218	c.1105G>C	c.(1105-1107)Gac>Cac	p.D369H	PKLR_ENST00000342741.4_Missense_Mutation_p.D400H	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	400					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	ATGATGCAGTCAGCCCCATCC	0.577000													10	49					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40914272	40914272	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:40914272C>T	ENST00000346991.5	+	11	2278	c.1888C>T	c.(1888-1890)Cag>Tag	p.Q630*	CASC5_ENST00000399668.2_Nonsense_Mutation_p.Q604*|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	630	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ATCTCACTCTCAGAGCAAAAG	0.398000													20	68					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306733	179306733	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:179306733G>A	ENST00000356834.3	-	8	1348	c.1311C>T	c.(1309-1311)ctC>ctT	p.L437L	TBC1D9B_ENST00000355235.3_Silent_p.L437L	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	437						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCGGCTGCTGAGGGGAGAGG	0.622000													13	65					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328195	88328195	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:88328195C>G	ENST00000325089.6	+	2	771	c.552C>G	c.(550-552)ctC>ctG	p.L184L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	184						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGCTTATCCTCAATGACAATC	0.478000													17	100					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24703280	24703280	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:24703280G>C	ENST00000222644.5	+	6	973	c.723G>C	c.(721-723)ttG>ttC	p.L241F	MPP6_ENST00000396475.2_Missense_Mutation_p.L241F|MPP6_ENST00000409761.1_Missense_Mutation_p.L129F			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		SH3.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						AAGCAGGATTGAAGTTTTCCA	0.338000													15	47					0	0	1	0	0
CCDC136	64753	broad.mit.edu	37	7	128457906	128457906	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:128457906C>T	ENST00000297788.4	+	17	3825	c.3458C>T	c.(3457-3459)tCg>tTg	p.S1153L	CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000464832.1_Missense_Mutation_p.S445L|CCDC136_ENST00000487361.1_Missense_Mutation_p.S514L|CCDC136_ENST00000378685.4_Missense_Mutation_p.S433L	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1153						integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GCTGAGACGTCGTCCTAATGC	0.577000													7	167					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55155179	55155179	+	Silent	SNP	C	C	T	rs138519829	byFrequency	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:55155179C>T	ENST00000257290.5	+	21	3109	c.2778C>T	c.(2776-2778)taC>taT	p.Y926Y	FIP1L1_ENST00000507166.1_Silent_p.Y686Y	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	926	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCCACAGCTACGAGATCATGG	0.557000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			7	34					0	0	1	0	0
ENPP2	5168	broad.mit.edu	37	8	120582984	120582984	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:120582984G>C	ENST00000427067.2	-	21	2121	c.1941C>G	c.(1939-1941)ttC>ttG	p.F647L	ENPP2_ENST00000522826.1_Missense_Mutation_p.F651L|ENPP2_ENST00000075322.6_Missense_Mutation_p.F626L|ENPP2_ENST00000259486.6_Missense_Mutation_p.F678L|ENPP2_ENST00000522167.1_Missense_Mutation_p.F261L			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	626					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTGGCATTAGGAATATTTCAC	0.338000													6	23					0	0	1	0	0
MRE11A	4361	broad.mit.edu	37	11	94212886	94212886	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:94212886G>A	ENST00000323929.3	-	5	578	c.356C>T	c.(355-357)tCa>tTa	p.S119L	MRE11A_ENST00000393241.4_Missense_Mutation_p.S119L|MRE11A_ENST00000540013.1_Missense_Mutation_p.S119L|MRE11A_ENST00000407439.3_Missense_Mutation_p.S122L|MRE11A_ENST00000323977.3_Missense_Mutation_p.S119L	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	119					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CACTGGAATTGAAATGTTGAG	0.343000								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				15	57					0	0	1	0	0
BRD2	6046	broad.mit.edu	37	6	32947861	32947861	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:32947861G>C	ENST00000395289.2	+	12	3804	c.2203G>C	c.(2203-2205)Gag>Cag	p.E735Q	BRD2_ENST00000449085.2_Missense_Mutation_p.E653Q|BRD2_ENST00000395287.1_Missense_Mutation_p.E735Q|BRD2_ENST00000374831.4_Missense_Mutation_p.E700Q|BRD2_ENST00000374825.4_Missense_Mutation_p.E700Q|BRD2_ENST00000443797.2_Missense_Mutation_p.E580Q			P25440	BRD2_HUMAN	bromodomain containing 2	700	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						TAGAGAGCTTGAGCGCTATGT	0.458000													9	58					0	0	1	0	0
TBKBP1	9755	broad.mit.edu	37	17	45773487	45773487	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:45773487C>T	ENST00000361722.3	+	1	858	c.9C>T	c.(7-9)tcC>tcT	p.S3S		NM_014726.2	NP_055541.1	A7MCY6	TBKB1_HUMAN	TBK1 binding protein 1	3					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						CCATGGAGTCCATGTTCGAGG	0.662000													18	31					0	0	1	0	0
SLAMF7	57823	broad.mit.edu	37	1	160718077	160718077	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:160718077C>G	ENST00000368043.3	+	2	186	c.149C>G	c.(148-150)tCt>tGt	p.S50C	SLAMF7_ENST00000368042.3_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000488819.1_3'UTR|SLAMF7_ENST00000359331.4_Missense_Mutation_p.S50C|SLAMF7_ENST00000441662.2_Missense_Mutation_p.S50C|SLAMF7_ENST00000444090.2_Missense_Mutation_p.S50C|SLAMF7_ENST00000458104.2_Intron	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	50					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CAAGTTGACTCTATTGTCTGG	0.507000													8	70					0	0	1	0	0
OPLAH	26873	broad.mit.edu	37	8	145112921	145112921	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:145112921G>A	ENST00000426825.1	-	8	1161	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	360							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	ACCTGAAGAAGAGGCGGGAAC	0.657000													9	67					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214832305	214832305	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:214832305G>A	ENST00000366955.3	+	19	9243	c.9075G>A	c.(9073-9075)ctG>ctA	p.L3025L		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3121	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TATCCCCACTGAGTCTCGGCA	0.517000											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	95					0	0	1	0	0
TFCP2	7024	broad.mit.edu	37	12	51511519	51511519	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:51511519C>G	ENST00000307660.4	-	3	1006	c.286G>C	c.(286-288)Gaa>Caa	p.E96Q	TFCP2_ENST00000549867.1_Missense_Mutation_p.E96Q|TFCP2_ENST00000257915.5_Missense_Mutation_p.E96Q|TFCP2_ENST00000548115.1_Missense_Mutation_p.E96Q	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	96					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						ATTCGAATTTCATAAGACTGT	0.294000													10	54					0	0	1	0	0
STIM2	57620	broad.mit.edu	37	4	26959236	26959236	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:26959236C>T	ENST00000382009.3	+	3	813	c.546C>T	c.(544-546)ttC>ttT	p.F182F	STIM2_ENST00000467087.1_Silent_p.F95F|STIM2_ENST00000467011.1_Silent_p.F95F|STIM2_ENST00000237364.5_Silent_p.F182F|STIM2_ENST00000465503.1_Silent_p.F95F|STIM2_ENST00000412829.2_Silent_p.F182F	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	95	SAM.				activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding	p.F182F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				TTCTATAGTTCATCAGAGAAG	0.308000													20	81					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137518573	137518573	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:137518573G>C	ENST00000394894.3	+	7	952	c.726G>C	c.(724-726)aaG>aaC	p.K242N	KIF20A_ENST00000508792.1_Missense_Mutation_p.K224N	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	242	Kinesin-motor.				cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTTCCTTGAAGAGGAGTGTCT	0.547000													4	45					0	0	1	0	0
SH3BP1	23616	broad.mit.edu	37	22	38043485	38043485	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:38043485G>C	ENST00000599616.1	+	11	964	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	SH3BP1_ENST00000336738.5_Missense_Mutation_p.E386Q|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.E386Q|SH3BP1_ENST00000442465.2_Missense_Mutation_p.E386Q			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	386	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GGCCCTCCAAGAGGTGTGCAG	0.692000													4	26					0	0	1	0	0
UBASH3B	84959	broad.mit.edu	37	11	122669698	122669698	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:122669698C>T	ENST00000284273.5	+	10	1781	c.1406C>T	c.(1405-1407)tCc>tTc	p.S469F		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	469	Protein tyrosine phosphatase (By similarity).					cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		GTCTATTGCTCCCCGTCCCTT	0.438000													15	70					0	0	1	0	0
LPL	4023	broad.mit.edu	37	8	19805690	19805690	+	Splice_Site	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:19805690G>C	ENST00000311322.8	+	2	558		c.e2-1		LPL_ENST00000521994.1_Splice_Site	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase						fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	TTCCTTTCCAGAAAGAAGAGA	0.433000													4	95					0	0	1	0	0
KCNN1	3780	broad.mit.edu	37	19	18104305	18104305	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:18104305G>A	ENST00000222249.9	+	10	1633	c.1314G>A	c.(1312-1314)cgG>cgA	p.R438R		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1		Calmodulin-binding (By similarity).				synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						ACAGGCTCCGGAGTGTGAAGA	0.652000													10	37					0	0	1	0	0
ZRANB3	84083	broad.mit.edu	37	2	136071137	136071137	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:136071137C>T	ENST00000401392.1	-	8	1100	c.888G>A	c.(886-888)atG>atA	p.M296I	ZRANB3_ENST00000536680.1_Missense_Mutation_p.M296I|ZRANB3_ENST00000264159.6_Missense_Mutation_p.M296I			Q5FWF4	ZRAB3_HUMAN	zinc finger, RAN-binding domain containing 3	296						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TTGGAGTTCTCATTATTTTTT	0.378000													27	96					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1703233	1703233	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:1703233C>T	ENST00000305513.7	-	5	1622	c.1455G>A	c.(1453-1455)gtG>gtA	p.V485V		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	485	SET.						zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CCCAAATAGTCACGTCAGGAC	0.502000													6	68					0	0	1	0	0
AK4	205	broad.mit.edu	37	1	65656422	65656422	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:65656422G>C	ENST00000395334.2	+	3	533	c.175G>C	c.(175-177)Gag>Cag	p.E59Q	AK4_ENST00000470888.2_3'UTR|AK4_ENST00000546702.1_Missense_Mutation_p.E7Q|AK4_ENST00000545314.1_Missense_Mutation_p.E59Q|AK4_ENST00000327299.7_Missense_Mutation_p.E59Q	NM_001005353.2	NP_001005353.1	P27144	KAD4_HUMAN	adenylate kinase 4	59						mitochondrial matrix	adenylate kinase activity|ATP binding|GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)	9						GCAGTATATAGAGAAAAGTCT	0.413000													8	71					0	0	1	0	0
RAB33B	83452	broad.mit.edu	37	4	140375562	140375562	+	Silent	SNP	A	A	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:140375562A>T	ENST00000305626.5	+	1	602	c.213A>T	c.(211-213)cgA>cgT	p.R71R		NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	71					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					TGGATTTCCGAGAACGAGCGG	0.632000													5	32					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55568528	55568528	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:55568528G>A	ENST00000395445.1	-	36	5676	c.5282C>T	c.(5281-5283)gCg>gTg	p.A1761V	PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395440.1_Missense_Mutation_p.A695V|PCDH15_ENST00000395446.1_Missense_Mutation_p.A957V|PCDH15_ENST00000395442.1_Missense_Mutation_p.A626V|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTGTCATACGCTGGTACCTG	0.473000										HNSCC(58;0.16)			5	19					0	0	1	0	0
TDRD7	23424	broad.mit.edu	37	9	100222556	100222556	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:100222556C>T	ENST00000355295.4	+	7	1247	c.952C>T	c.(952-954)Cta>Tta	p.L318L	TDRD7_ENST00000422139.2_Silent_p.L244L	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	318	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GAAAGTACCTCTATCCCCACT	0.458000													13	67					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166019298	166019298	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:166019298C>G	ENST00000360093.3	-	8	1226	c.735G>C	c.(733-735)aaG>aaC	p.K245N	SCN3A_ENST00000409101.3_Missense_Mutation_p.K245N|SCN3A_ENST00000283254.7_Missense_Mutation_p.K245N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	245						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CAGAAAGCTTCTTTACCGACT	0.453000													15	108					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38673327	38673327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:38673327G>A	ENST00000222345.6	+	16	4886	c.4377G>A	c.(4375-4377)tgG>tgA	p.W1459*		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1459					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CAACAGGGTGGAAGAGAACGG	0.637000													12	59					0	0	1	0	0
CDIP1	29965	broad.mit.edu	37	16	4562597	4562597	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:4562597G>A	ENST00000399599.3	-	5	1151	c.603C>T	c.(601-603)atC>atT	p.I201I	CDIP1_ENST00000564828.1_3'UTR|CDIP1_ENST00000563332.2_Silent_p.I201I|CDIP1_ENST00000562334.1_Silent_p.I122I|CDIP1_ENST00000567695.1_Silent_p.I201I|CDIP1_ENST00000563507.1_Silent_p.I162I					cell death-inducing p53 target 1																		TGTACGTGTAGATGTAGGCTT	0.577000													9	55					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73022186	73022186	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:73022186G>A	ENST00000263674.3	+	1	2853	c.2503G>A	c.(2503-2505)Ggg>Agg	p.G835R		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	835					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CAGCCGCCGTGGGGAGCTGGC	0.642000													10	75					0	0	1	0	0
MROH9	80133	broad.mit.edu	37	1	170961386	170961386	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:170961386G>A	ENST00000367759.4	+	12	1264	c.1110G>A	c.(1108-1110)ctG>ctA	p.L370L	MROH9_ENST00000367758.3_Silent_p.L370L	NM_001163629.1	NP_001157101.1			maestro heat-like repeat family member 9																		TATTGATACTGAAAGGAAAGC	0.498000													10	49					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057525	46057525	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:46057525C>G	ENST00000380095.1	+	1	253	c.191C>G	c.(190-192)tCa>tGa	p.S64*	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	64	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						GCCTGCCAATCAGGCTACACC	0.662000													30	116					0	0	1	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559692	46559692	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:46559692C>G	ENST00000242848.4	-	10	1808	c.1460G>C	c.(1459-1461)aGa>aCa	p.R487T	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R487T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	487	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTTGGTATCTCTGCTATAATC	0.522000													19	176					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204423840	204423840	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:204423840G>C	ENST00000367187.3	-	13	2579	c.2023C>G	c.(2023-2025)Cac>Gac	p.H675D	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.H675D|PIK3C2B_ENST00000496872.1_5'UTR	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	675					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			TTGGAGAAGTGAGCTCTTCGG	0.577000													15	172					0	0	1	0	0
CA4	762	broad.mit.edu	37	17	58235781	58235781	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:58235781G>A	ENST00000300900.4	+	7	817	c.718G>A	c.(718-720)Gag>Aag	p.E240K		NM_000717.3	NP_000708.1	P22748	CAH4_HUMAN	carbonic anhydrase IV	240					bicarbonate transport|one-carbon metabolic process	anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane	carbonate dehydratase activity|protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(5)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.83e-12)|all cancers(12;6.83e-11)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	TGTGTTCCGGGAGCCCATTCA	0.607000													10	28					0	0	1	0	0
MTPAP	55149	broad.mit.edu	37	10	30629316	30629316	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:30629316G>T	ENST00000358107.4	-	4	783	c.784C>A	c.(784-786)Cat>Aat	p.H262N	MTPAP_ENST00000263063.4_Missense_Mutation_p.H132N|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	132					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CTTGGAGTATGAGTCCCATTC	0.428000													18	88					4.96729e-08	5.10269e-08	1	1	0
PLCXD1	55344	broad.mit.edu	37	X	215978	215978	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:215978C>G	ENST00000381657.2	+	7	1462	c.948C>G	c.(946-948)ctC>ctG	p.L316L	PLCXD1_ENST00000399012.1_Silent_p.L316L|PLCXD1_ENST00000381663.3_Silent_p.L316L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	316					intracellular signal transduction|lipid metabolic process		phospholipase C activity	p.L316L(1)		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)				TCATCGCGCTCAATCAGAAGC	0.607000													13	75					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189904098	189904098	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:189904098G>C	ENST00000374866.3	-	51	4099	c.3825C>G	c.(3823-3825)ctC>ctG	p.L1275L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1275	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTGACTACTGAGTGACTTCA	0.517000													13	67					0	0	1	0	0
ABCC3	8714	broad.mit.edu	37	17	48762102	48762102	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:48762102G>A	ENST00000285238.8	+	29	4226	c.4146G>A	c.(4144-4146)atG>atA	p.M1382I		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1382	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCTGCGCATGAACCTGGACC	0.632000													12	91					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867190	7867190	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:7867190C>G	ENST00000264669.5	-	2	1143	c.1007G>C	c.(1006-1008)aGa>aCa	p.R336T	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	336					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCCAAGACTCTCCTAAGCTC	0.448000													17	75					0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230407	147230407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:147230407G>A	ENST00000271348.2	-	2	1101	c.940C>T	c.(940-942)Cag>Tag	p.Q314*	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Nonsense_Mutation_p.Q314*	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	314					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			TAACGAACCTGGATGAAACCT	0.532000													21	109					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25991658	25991658	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:25991658G>A	ENST00000435504.4	-	7	877	c.584C>T	c.(583-585)tCa>tTa	p.S195L	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Missense_Mutation_p.S167L			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	195	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGTCTTTAGTGAGAGATGCTG	0.443000													24	136					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219530894	219530894	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:219530894G>A	ENST00000295704.2	-	6	857	c.417C>T	c.(415-417)ctC>ctT	p.L139L		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	139					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAACCATAGAGGCAGATGA	0.512000													5	30					0	0	1	0	0
DHX34	9704	broad.mit.edu	37	19	47879256	47879256	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:47879256G>A	ENST00000328771.4	+	11	2732	c.2383G>A	c.(2383-2385)Gag>Aag	p.E795K		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	795						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	p.E795K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGAGCCGCGAGCAGCTGGC	0.672000													15	77					0	0	1	0	0
ZNF506	440515	broad.mit.edu	37	19	19906020	19906020	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:19906020C>G	ENST00000443905.2	-	4	823	c.676G>C	c.(676-678)Gag>Cag	p.E226Q	CTC-559E9.6_ENST00000589657.1_RNA|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000450683.2_Missense_Mutation_p.E194Q|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.E226Q|CTC-559E9.4_ENST00000590274.1_lincRNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TAGGGTTTCTCTCCAGTATGA	0.383000													8	88					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612313	179612313	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:179612313C>T	ENST00000360870.5	-	46	15036	c.14814G>A	c.(14812-14814)atG>atA	p.M4938I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1065							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)			CTTCCACCTCCATTGAAGTGA	0.423000													15	108					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982693	57982693	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:57982693C>T	ENST00000309433.6	+	1	477	c.477C>T	c.(475-477)gtC>gtT	p.V159V		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGCTCACAGTCATCTCATGGT	0.478000													33	171					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101521208	101521208	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:101521208G>A	ENST00000542504.1	+	2	189	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	NPAS2_ENST00000335681.5_5'UTR			Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	0					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACTGCATAGAAAATCTAAT	0.418000													6	26					0	0	1	0	0
ZNF44	51710	broad.mit.edu	37	19	12383363	12383363	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:12383363G>A	ENST00000356109.5	-	5	1969	c.1851C>T	c.(1849-1851)ttC>ttT	p.F617F	ZNF44_ENST00000355684.5_Silent_p.F569F	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGGAACGACTGAAGGCTTTAC	0.438000													12	49					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189612186	189612186	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:189612186C>G	ENST00000264731.3	+	14	2027	c.1938C>G	c.(1936-1938)ctC>ctG	p.L646L	TP63_ENST00000440651.2_Silent_p.L642L|TP63_ENST00000449992.1_Silent_p.L467L|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000354600.5_Silent_p.L552L|TP63_ENST00000382063.4_Silent_p.L561L|TP63_ENST00000456148.1_Silent_p.L548L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	646	Transactivation inhibition.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATTCACCCTCCGCCAGACCA	0.562000										HNSCC(45;0.13)			23	79					0	0	1	0	0
ARIH1	25820	broad.mit.edu	37	15	72837290	72837290	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:72837290G>C	ENST00000379887.4	+	3	887	c.573G>C	c.(571-573)ttG>ttC	p.L191F		NM_005744.3	NP_005735.2	Q9Y4X5	ARI1_HUMAN	ariadne RBR E3 ubiquitin protein ligase 1	191	Interaction with UBE2L3.				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						TCTGCTACTTGAACTACCCTA	0.383000													9	89					0	0	1	0	0
MIPEP	4285	broad.mit.edu	37	13	24330705	24330705	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:24330705C>G	ENST00000382172.3	-	18	2121	c.2023G>C	c.(2023-2025)Gag>Cag	p.E675Q		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	675					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AGCATGGGCTCCCTGCCTCCA	0.483000													5	71					0	0	1	0	0
GPM6B	2824	broad.mit.edu	37	X	13791015	13791015	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:13791015G>C	ENST00000316715.4	-	8	1409	c.972C>G	c.(970-972)ctC>ctG	p.L324L	GPM6B_ENST00000493677.1_Silent_p.L298L|GPM6B_ENST00000454189.2_3'UTR	NM_001001995.1	NP_001001995.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	0					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						TGTAAGAATTGAGTTGTTCTT	0.428000													27	52					0	0	1	0	0
ILF2	3608	broad.mit.edu	37	1	153634895	153634895	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:153634895C>T	ENST00000361891.4	-	14	1275	c.1150G>A	c.(1150-1152)Gaa>Aaa	p.E384K	ILF2_ENST00000480213.1_5'UTR	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	384	Poly-Glu.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCATGCTttcttcttcctct	0.483000													6	41					0	0	1	0	0
CLSTN2	64084	broad.mit.edu	37	3	140251268	140251268	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:140251268G>T	ENST00000458420.3	+	9	1637	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	483					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GGTGACCAACGACTGGCCCAT	0.458000										HNSCC(16;0.037)			17	102					4.96729e-08	5.10269e-08	1	1	0
RNF25	64320	broad.mit.edu	37	2	219532840	219532840	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:219532840G>C	ENST00000295704.2	-	4	689	c.249C>G	c.(247-249)atC>atG	p.I83M		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	83	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGATTTCGGATAGAGATCT	0.517000													55	347					0	0	1	0	0
TRMT2A	27037	broad.mit.edu	37	22	20102177	20102177	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:20102177C>G	ENST00000252136.7	-	7	1541	c.1153G>C	c.(1153-1155)Gag>Cag	p.E385Q	TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000403707.3_Missense_Mutation_p.E385Q|TRMT2A_ENST00000404751.3_Missense_Mutation_p.E385Q|TRMT2A_ENST00000439169.2_Missense_Mutation_p.E385Q	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	385					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						GCCACATGCTCCAGGGGCAGG	0.647000													16	67					0	0	1	0	0
FBN2	2201	broad.mit.edu	37	5	127624244	127624244	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:127624244C>T	ENST00000508053.1	-	59	7617	c.6643G>A	c.(6643-6645)Gat>Aat	p.D2215N	FBN2_ENST00000262464.4_Missense_Mutation_p.D2215N			P35556	FBN2_HUMAN	fibrillin 2	2215	EGF-like 37; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GAACACTCATCAGTATCTGAA	0.443000													15	53					0	0	1	0	0
SMG6	23293	broad.mit.edu	37	17	2203548	2203548	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:2203548C>T	ENST00000544865.1	-	2	916	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K	SMG6_ENST00000263073.6_Missense_Mutation_p.E167K			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	167	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TTGAGGACTTCTTCCTCCTCC	0.478000													40	238					0	0	1	0	0
MRPS23	51649	broad.mit.edu	37	17	55926667	55926667	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:55926667C>G	ENST00000313608.8	-	2	194	c.149G>C	c.(148-150)cGa>cCa	p.R50P	MRPS23_ENST00000578444.1_Missense_Mutation_p.R50P	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	50					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					ATATCGCACTCGAGGCCTTTG	0.592000													11	62					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47164447	47164447	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:47164447G>A	ENST00000409792.3	-	3	1721	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TATAGGTTTTGAAAGGGTAGA	0.348000			"""N, F, S, Mis"""		clear cell renal carcinoma								24	131					0	0	1	0	0
C2orf42	54980	broad.mit.edu	37	2	70408762	70408762	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:70408762G>C	ENST00000264434.2	-	3	735	c.356C>G	c.(355-357)tCa>tGa	p.S119*	C2orf42_ENST00000420306.1_Nonsense_Mutation_p.S119*|C2orf42_ENST00000470096.1_5'UTR	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	119										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TTTCAGGCATGAGGGGACATA	0.562000													10	58					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41813024	41813024	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:41813024G>C	ENST00000304330.4	-	22	3476	c.3360C>G	c.(3358-3360)ctC>ctG	p.L1120L	RPAP1_ENST00000561603.1_Intron	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	1120	Leu-rich.					nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGTGGGAGAGAGTCCCGAGG	0.662000													6	38					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100821673	100821673	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:100821673G>C	ENST00000358544.2	+	44	8198	c.8087G>C	c.(8086-8088)gGg>gCg	p.G2696A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.G2671A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2696					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GACCATGCCGGGACTTTTATT	0.428000													11	59					0	0	1	0	0
CACNB1	782	broad.mit.edu	37	17	37340339	37340339	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:37340339G>C	ENST00000394303.3	-	10	1050	c.843C>G	c.(841-843)ctC>ctG	p.L281L	CACNB1_ENST00000394310.3_Silent_p.L281L|CACNB1_ENST00000344140.5_Silent_p.L326L	NM_000723.4	NP_000714.3	Q02641	CACB1_HUMAN	calcium channel, voltage-dependent, beta 1 subunit	281					axon guidance	voltage-gated calcium channel complex				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	16					Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661)	TGGGGTTGTTGAGAACTGAGC	0.582000													11	57					0	0	1	0	0
HOXD3	3232	broad.mit.edu	37	2	177036599	177036599	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:177036599C>T	ENST00000468418.3	+	4	2986	c.896C>T	c.(895-897)cCg>cTg	p.P299L	HOXD3_ENST00000410016.1_Missense_Mutation_p.P299L|HOXD3_ENST00000249440.3_Missense_Mutation_p.P299L			P31249	HXD3_HUMAN	homeobox D3	299					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCGCCCTCGCCGCCTGCTTTC	0.716000													9	27					0	0	1	0	0
CTBS	1486	broad.mit.edu	37	1	85036401	85036401	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:85036401G>C	ENST00000370630.5	-	2	228	c.180C>G	c.(178-180)gtC>gtG	p.V60V	CTBS_ENST00000477677.1_5'UTR	NM_004388.2	NP_004379.1	Q01459	DIAC_HUMAN	chitobiase, di-N-acetyl-							lysosome	cation binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)	9				all cancers(265;0.00727)|Epithelial(280;0.0192)|OV - Ovarian serous cystadenocarcinoma(397;0.166)		CAAACACAAAGACCTGCCAGA	0.373000													6	68					0	0	1	0	0
MKRN3	7681	broad.mit.edu	37	15	23811429	23811429	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:23811429C>T	ENST00000314520.3	+	1	976	c.500C>T	c.(499-501)tCc>tTc	p.S167F	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	167						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TCCTCCCTTTCCTTGCCTGTG	0.637000													10	42					0	0	1	0	0
ZNF467	168544	broad.mit.edu	37	7	149462730	149462730	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:149462730C>G	ENST00000302017.3	-	5	1274	c.861G>C	c.(859-861)ttG>ttC	p.L287F	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	287					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCCGAATCAAGTGCGTCT	0.632000													7	18					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107749663	107749663	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:107749663C>G	ENST00000388781.3	-	5	438	c.355G>C	c.(355-357)Gac>Cac	p.D119H	LAMB4_ENST00000414450.2_Missense_Mutation_p.D119H|LAMB4_ENST00000205386.4_Missense_Mutation_p.D119H|LAMB4_ENST00000418464.1_Missense_Mutation_p.D119H|LAMB4_ENST00000388780.3_Missense_Mutation_p.D119H	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	119	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCCTCTAAGTCCAGTCTGATG	0.413000													5	74					0	0	1	0	0
CDHR1	92211	broad.mit.edu	37	10	85972124	85972124	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:85972124G>C	ENST00000372117.3	+	15	1846	c.1743G>C	c.(1741-1743)caG>caC	p.Q581H	CDHR1_ENST00000440770.2_Missense_Mutation_p.Q285H|CDHR1_ENST00000332904.3_Missense_Mutation_p.Q581H	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	581	Cadherin 6.				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						AGAGCGTTCAGAAGAAGACGA	0.517000													27	91					0	0	1	0	0
CYP3A5	1577	broad.mit.edu	37	7	99247765	99247765	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:99247765G>C	ENST00000343703.5	-	13	1700	c.1314C>G	c.(1312-1314)ctC>ctG	p.L438L	CYP3A5_ENST00000222982.4_Silent_p.L448L|CYP3A5_ENST00000339843.2_3'UTR					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TCATGTTCATGAGAGCAAACC	0.398000													34	191					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73021511	73021511	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:73021511G>A	ENST00000263674.3	+	1	2178	c.1828G>A	c.(1828-1830)Gat>Aat	p.D610N		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	610					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGCCCAACAAGATGATGGAAG	0.632000													11	45					0	0	1	0	0
DLG4	1742	broad.mit.edu	37	17	7096312	7096312	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:7096312G>A	ENST00000399510.2	-	19	2799	c.1947C>T	c.(1945-1947)agC>agT	p.S649S	DLG4_ENST00000399506.2_Silent_p.S606S|DLG4_ENST00000302955.6_Silent_p.S603S	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	606	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CATAGAGGTGGCTGTTGTACT	0.597000													7	38					0	0	1	0	0
RTL1	388015	broad.mit.edu	37	14	101349479	101349479	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:101349479C>A	ENST00000534062.1	-	1	1705	c.1647G>T	c.(1645-1647)atG>atT	p.M549I		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	549										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						GTAGCAGGCTCATGCCGTGCC	0.602000													8	55					1.26484e-09	1.30645e-09	1	1	0
MFSD6L	162387	broad.mit.edu	37	17	8701637	8701637	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:8701637C>G	ENST00000329805.4	-	1	1030	c.802G>C	c.(802-804)Gat>Cat	p.D268H		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	268						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGGCTGTCATCTGCCACCTGC	0.582000													14	91					0	0	1	0	0
SCUBE2	57758	broad.mit.edu	37	11	9080890	9080890	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:9080890C>T	ENST00000457346.2	-	9	1124	c.1050G>A	c.(1048-1050)aaG>aaA	p.K350K	RP11-467K18.2_ENST00000521394.2_RNA|SCUBE2_ENST00000450649.2_Silent_p.K350K|SCUBE2_ENST00000309263.3_Silent_p.K350K|SCUBE2_ENST00000520467.1_Silent_p.K350K			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	350	EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TAAATCCTTTCTTGCAGCCGC	0.458000													12	47					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226576425	226576425	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:226576425C>G	ENST00000366794.5	-	5	792	c.649G>C	c.(649-651)Gat>Cat	p.D217H		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	217					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCCACTTCATCCACTCCATCC	0.443000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					13	133					0	0	1	0	0
STRAP	11171	broad.mit.edu	37	12	16052899	16052899	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:16052899C>T	ENST00000419869.2	+	8	1150	c.837C>T	c.(835-837)ctC>ctT	p.L279L	STRAP_ENST00000538352.1_Silent_p.L185L|STRAP_ENST00000025399.6_Silent_p.L292L	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	279					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				ATGGAGAACTCTATGCCAGTG	0.388000													17	100					0	0	1	0	0
SLC4A5	57835	broad.mit.edu	37	2	74489306	74489306	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:74489306C>A	ENST00000394019.2	-	11	1166	c.769G>T	c.(769-771)Gaa>Taa	p.E257*	SLC4A5_ENST00000358683.4_Nonsense_Mutation_p.E193*|SLC4A5_ENST00000346834.4_Nonsense_Mutation_p.E257*|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000377632.1_Nonsense_Mutation_p.E257*|SLC4A5_ENST00000357822.5_Nonsense_Mutation_p.E257*|SLC4A5_ENST00000359484.4_Nonsense_Mutation_p.E193*|SLC4A5_ENST00000423644.1_Nonsense_Mutation_p.E257*|SLC4A5_ENST00000377634.4_Nonsense_Mutation_p.E257*|RP11-287D1.3_ENST00000451608.2_3'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	257						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CGCAGGTCTTCCGTGGAGTGG	0.597000													7	40					0.00307968	0.00310558	1	1	0
SNX18	112574	broad.mit.edu	37	5	53839058	53839058	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:53839058G>C	ENST00000381410.4	+	2	1861	c.1671G>C	c.(1669-1671)aaG>aaC	p.K557N	SNX18_ENST00000343017.6_3'UTR	NM_001102575.1	NP_001096045.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	0	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGGAAGGGAAGATGGAGGTGC	0.423000													9	66					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129866424	129866424	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:129866424C>T	ENST00000254667.3	+	12	1160	c.881C>T	c.(880-882)tCa>tTa	p.S294L	PTPRE_ENST00000306042.5_Missense_Mutation_p.S236L|PTPRE_ENST00000430713.2_3'UTR|PTPRE_ENST00000419012.2_Missense_Mutation_p.S294L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	294	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				AGGCTGGTCTCACAGCTGCAC	0.612000													15	69					0	0	1	0	0
CD101	9398	broad.mit.edu	37	1	117554561	117554561	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:117554561C>T	ENST00000256652.4	+	3	872	c.814C>T	c.(814-816)Caa>Taa	p.Q272*	CD101_ENST00000369470.1_Nonsense_Mutation_p.Q272*	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	272					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGACCGATCAAACCACTCT	0.423000													14	52					0	0	1	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382280	41382280	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:41382280G>A	ENST00000377801.3	-	2	534	c.460C>T	c.(460-462)Cac>Tac	p.H154Y	PLCXD3_ENST00000328457.3_Missense_Mutation_p.H154Y			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	154	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TTTTCATGGTGATATTTCTGC	0.413000													36	181					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433019	179433019	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:179433019C>T	ENST00000589042.1	-	326	78064	c.77840G>A	c.(77839-77841)aGa>aAa	p.R25947K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17007K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R16882K|TTN_ENST00000342992.6_Missense_Mutation_p.R23379K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R17074K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R24306K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24306	Fibronectin type-III 89.						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)			GAGTGTAGTTCTAGCAACAGT	0.398000													23	99					0	0	1	0	0
TRIM26	7726	broad.mit.edu	37	6	30164394	30164394	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:30164394C>T	ENST00000454678.2	-	6	1100	c.664G>A	c.(664-666)Gag>Aag	p.E222K	TRIM26_ENST00000437089.1_Missense_Mutation_p.E222K|TRIM26_ENST00000453195.1_Missense_Mutation_p.E222K	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	222							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						TTGAACTTCTCCCTGCCCTCC	0.642000													7	57					0	0	1	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733136	52733136	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:52733136C>G	ENST00000360540.5	-	7	1255	c.849G>C	c.(847-849)caG>caC	p.Q283H	PCMTD1_ENST00000544451.1_Missense_Mutation_p.Q207H|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Missense_Mutation_p.Q283H	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	283						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TGTTAATTCTCTGTTTAACTC	0.408000													5	253					0	0	1	0	0
BDNF	627	broad.mit.edu	37	11	27680080	27680080	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:27680080G>A	ENST00000525528.1	-	1	1125	c.32C>T	c.(31-33)tCa>tTa	p.S11L	BDNF_ENST00000395980.2_Missense_Mutation_p.S11L|BDNF_ENST00000525950.1_Missense_Mutation_p.S11L|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000314915.6_Missense_Mutation_p.S19L|BDNF_ENST00000439476.2_Missense_Mutation_p.S11L|BDNF_ENST00000533246.1_Missense_Mutation_p.S11L|BDNF_ENST00000356660.4_Missense_Mutation_p.S11L|BDNF-AS_ENST00000499568.2_RNA|BDNF_ENST00000395986.2_Missense_Mutation_p.S26L|BDNF_ENST00000395978.3_Missense_Mutation_p.S11L|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000395983.3_Missense_Mutation_p.S11L|BDNF_ENST00000420794.1_Missense_Mutation_p.S11L|BDNF_ENST00000533131.1_Missense_Mutation_p.S11L|BDNF_ENST00000418212.1_Missense_Mutation_p.S11L|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000530861.1_Missense_Mutation_p.S11L|BDNF_ENST00000438929.1_Missense_Mutation_p.S93L|BDNF_ENST00000532997.1_Missense_Mutation_p.S11L|BDNF_ENST00000395981.3_Missense_Mutation_p.S11L|BDNF-AS_ENST00000530313.1_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	11						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						ACCAAAGTATGAAATAACCAT	0.493000													18	91					0	0	1	0	0
SAP130	79595	broad.mit.edu	37	2	128700004	128700004	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:128700004C>T	ENST00000357702.5	-	20	3218	c.3087G>A	c.(3085-3087)ctG>ctA	p.L1029L	SAP130_ENST00000259234.6_Silent_p.L1002L|SAP130_ENST00000259235.3_Silent_p.L994L	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	994	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAACCTGTATCAGTTCGTTTA	0.438000													15	112					0	0	1	0	0
ZFP91	80829	broad.mit.edu	37	11	58384940	58384940	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:58384940C>T	ENST00000316059.6	+	11	1645	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.L492F	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	492					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				TGGTCAGGGTCTTCCTCTTCT	0.547000													18	63					0	0	1	0	0
ZNF284	342909	broad.mit.edu	37	19	44590807	44590807	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:44590807C>T	ENST00000421176.3	+	5	1392	c.1176C>T	c.(1174-1176)gtC>gtT	p.V392V	ZNF223_ENST00000591793.1_3'UTR	NM_001037813.2	NP_001032902.1	Q2VY69	ZN284_HUMAN	zinc finger protein 284	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				ATCAGCGGGTCCACAATGGAG	0.438000													18	115					0	0	1	0	0
NELFB	25920	broad.mit.edu	37	9	140151363	140151363	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:140151363G>C	ENST00000343053.4	+	4	791	c.454G>C	c.(454-456)Gac>Cac	p.D152H		NM_015456.3	NP_056271.2			negative elongation factor complex member B																		GATCTGGCAAGACAACCAGGC	0.557000													7	66					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198968662	198968662	+	Splice_Site	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:198968662T>C	ENST00000428675.1	+	5	3503		c.e5+2		PLCL1_ENST00000437704.2_Splice_Site	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1						intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTATTGAAGGTAGATGAAACA	0.383000													8	24					0	0	1	0	0
FBXW10	10517	broad.mit.edu	37	17	18653219	18653219	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:18653219C>G	ENST00000308799.4	+	3	1074	c.855C>G	c.(853-855)ctC>ctG	p.L285L	FBXW10_ENST00000395667.1_Silent_p.L285L|FBXW10_ENST00000395665.4_Silent_p.L285L|FBXW10_ENST00000301938.4_Silent_p.L285L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	285	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CCATCCACCTCTCCAAGTACA	0.498000													15	210					0	0	1	0	0
ADAM21	8747	broad.mit.edu	37	14	70924778	70924778	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:70924778G>C	ENST00000603540.1	+	2	820	c.562G>C	c.(562-564)Gaa>Caa	p.E188Q	RP11-486O13.4_ENST00000556646.1_lincRNA|ADAM21_ENST00000267499.3_Missense_Mutation_p.E188Q	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	188					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.E188Q(4)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTTGGAATTTGAAGAGGCTGA	0.438000													8	75					0	0	1	0	0
SCNN1B	6338	broad.mit.edu	37	16	23391756	23391756	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:23391756C>T	ENST00000343070.2	+	13	1733	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L	SCNN1B_ENST00000568085.1_Silent_p.L483L|SCNN1B_ENST00000568923.1_Silent_p.L492L|SCNN1B_ENST00000307331.5_Silent_p.L564L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	519					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TCTGGCTGCTCTCGAATCTGG	0.567000													19	99					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48327995	48327995	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:48327995C>G	ENST00000319988.1	+	1	221	c.221C>G	c.(220-222)aCt>aGt	p.T74S		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TATCCATCCACTACCATACCC	0.453000													10	105					0	0	1	0	0
MYH13	8735	broad.mit.edu	37	17	10212869	10212869	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:10212869C>T	ENST00000418404.3	-	33	5098	c.4935G>A	c.(4933-4935)aaG>aaA	p.K1645K	MYH13_ENST00000252172.4_Silent_p.K1645K|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1645				K -> R (in Ref. 1; AAD29948).	muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCGCAGATGCTTCTGGGTCT	0.632000													3	25					0	0	1	0	0
PLXDC2	84898	broad.mit.edu	37	10	20568701	20568701	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:20568701G>A	ENST00000377252.4	+	14	2384	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.E466K	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGCTGAAGTTGAACCAGTTGG	0.408000													13	82					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121943864	121943864	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:121943864C>G	ENST00000442488.2	-	1	695	c.628G>C	c.(628-630)Gag>Cag	p.E210Q	FEZF1_ENST00000427185.2_Missense_Mutation_p.E160Q|FEZF1_ENST00000331178.4_Missense_Mutation_p.E210Q|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	210					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GGGTATTTCTCCACCGCCGGG	0.522000													13	69					0	0	1	0	0
DCLRE1B	64858	broad.mit.edu	37	1	114454667	114454667	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:114454667C>T	ENST00000369563.3	+	4	1899	c.1453C>T	c.(1453-1455)Cac>Tac	p.H485Y	DCLRE1B_ENST00000466480.1_Intron	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	485					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCCCTGTCCCACAGCAGCAA	0.532000								Other identified genes with known or suspected DNA repair function					32	117					0	0	1	0	0
ATP8A1	10396	broad.mit.edu	37	4	42415017	42415017	+	Silent	SNP	G	G	A	rs112287290		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:42415017G>A	ENST00000381668.5	-	37	3642	c.3411C>T	c.(3409-3411)ttC>ttT	p.F1137F	ATP8A1_ENST00000264449.10_Silent_p.F1122F	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1137					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	CATCTTGAGAGAACGCATACC	0.423000													8	48					0	0	1	0	0
SNRPD2	6633	broad.mit.edu	37	19	46191771	46191771	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:46191771C>T	ENST00000342669.3	-	2	500	c.56G>A	c.(55-57)cGa>cAa	p.R19Q	SNRPD2_ENST00000588599.1_Missense_Mutation_p.R9Q|SNRPD2_ENST00000590212.1_Missense_Mutation_p.R19Q|SNRPD2_ENST00000391932.3_Missense_Mutation_p.R9Q|SNRPD2_ENST00000588301.1_Missense_Mutation_p.R19Q|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000587367.1_Missense_Mutation_p.R9Q	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	19					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		CTCCTCCTCTCGCTTCTGCAG	0.502000													19	89					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43496478	43496478	+	Silent	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:43496478G>T	ENST00000282041.5	-	18	3343	c.3309C>A	c.(3307-3309)gtC>gtA	p.V1103V	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1103					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						CCTTGTGGGTGACCTGTTGTG	0.562000													7	31					0.0381472	0.0382924	1	1	0
CTNNA3	29119	broad.mit.edu	37	10	67748462	67748462	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:67748462C>G	ENST00000433211.2	-	16	2427	c.2253G>C	c.(2251-2253)caG>caC	p.Q751H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.Q751H|CTNNA3_ENST00000373735.1_5'UTR	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GATTAGCAATCTGCCGAGCAA	0.383000													12	72					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120021821	120021821	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:120021821C>G	ENST00000379551.2	+	3	620	c.263C>G	c.(262-264)tCt>tGt	p.S88C	PRR16_ENST00000407149.2_Missense_Mutation_p.S111C|PRR16_ENST00000446965.1_Missense_Mutation_p.S41C|PRR16_ENST00000505123.1_Missense_Mutation_p.S41C	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	111										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCACACCCGTCTGCTATCCTC	0.537000													22	96					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35965594	35965594	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:35965594G>A	ENST00000490799.1	-	5	901	c.548C>T	c.(547-549)tCg>tTg	p.S183L	SLC26A8_ENST00000394602.2_Missense_Mutation_p.S183L|SLC26A8_ENST00000355574.2_Missense_Mutation_p.S183L	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	183					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GGAGGGGGCCGAAAACTCATT	0.458000													15	63					0	0	1	0	0
CCDC180	100499483	broad.mit.edu	37	9	100076963	100076963	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:100076963G>A	ENST00000375202.2	+	21	2136	c.784G>A	c.(784-786)Gag>Aag	p.E262K	CCDC180_ENST00000411667.2_Missense_Mutation_p.E259K|CCDC180_ENST00000357054.1_Missense_Mutation_p.E401K|RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000395220.1_Missense_Mutation_p.E401K|CCDC180_ENST00000460482.2_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.E262K					coiled-coil domain containing 180																		GGAGATTAAGGAGCTGGATGA	0.587000													3	20					0	0	1	0	0
LARP7	51574	broad.mit.edu	37	4	113568507	113568507	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:113568507G>A	ENST00000509061.1	+	9	1123	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	MIR302B_ENST00000505215.1_RNA|LARP7_ENST00000344442.5_Missense_Mutation_p.E267K|MIR302B_ENST00000510655.1_RNA|LARP7_ENST00000324052.6_Missense_Mutation_p.E267K|MIR302B_ENST00000509938.1_RNA	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	267	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TGAGTCCACTGAACCCCAAAA	0.448000													12	73					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123659496	123659496	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:123659496C>T	ENST00000224652.6	-	7	912	c.827G>A	c.(826-828)aGa>aAa	p.R276K	ATE1_ENST00000369043.3_Intron|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000543447.1_Missense_Mutation_p.R161K|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000481784.1_Intron|ATE1_ENST00000540606.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1	276					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGAGATGATCTCACCACCCT	0.403000													13	62					0	0	1	0	0
TMEM51	55092	broad.mit.edu	37	1	15541871	15541871	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:15541871C>A	ENST00000428417.1	+	2	734	c.288C>A	c.(286-288)gaC>gaA	p.D96E	TMEM51_ENST00000400796.3_Missense_Mutation_p.D96E|TMEM51_ENST00000376008.2_Missense_Mutation_p.D96E|TMEM51_ENST00000434578.2_Missense_Mutation_p.D96E|TMEM51_ENST00000376014.3_Missense_Mutation_p.D96E	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	96						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		AGGGCGAGGACCTGGCCCATG	0.657000													5	30					0.014758	0.0148367	1	1	0
WBP2	23558	broad.mit.edu	37	17	73847741	73847741	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:73847741C>G	ENST00000591399.1	-	3	500	c.76G>C	c.(76-78)Gat>Cat	p.D26H	WBP2_ENST00000590450.1_5'UTR|WBP2_ENST00000585462.1_Missense_Mutation_p.D4H|WBP2_ENST00000590221.1_Missense_Mutation_p.D26H|WBP2_ENST00000254806.3_Missense_Mutation_p.D26H|WBP2_ENST00000433525.2_Missense_Mutation_p.D26H|WBP2_ENST00000344296.4_Missense_Mutation_p.D4H			Q969T9	WBP2_HUMAN	WW domain binding protein 2	26	GRAM.						protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCACGTGATCATAGGACATT	0.498000													21	142					0	0	1	0	0
FAN1	22909	broad.mit.edu	37	15	31197412	31197412	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:31197412G>C	ENST00000362065.4	+	2	837	c.546G>C	c.(544-546)caG>caC	p.Q182H	FAN1_ENST00000561607.1_Missense_Mutation_p.Q182H|FAN1_ENST00000561594.1_Missense_Mutation_p.Q182H|FAN1_ENST00000565466.1_Missense_Mutation_p.Q182H	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	182					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTAGTCCACAGAGTTCCAAAT	0.368000								Direct reversal of damage					7	69					0	0	1	0	0
CSK	1445	broad.mit.edu	37	15	75091737	75091737	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:75091737G>A	ENST00000220003.9	+	5	1096	c.367G>A	c.(367-369)Gac>Aac	p.D123N	CSK_ENST00000567571.1_Missense_Mutation_p.D123N|CSK_ENST00000439220.2_Missense_Mutation_p.D123N|CSK_ENST00000309470.9_Missense_Mutation_p.D123N	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	123	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						CGTGAGCTGCGACGGCAAGGT	0.612000													8	29					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	3226890	3226890	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:3226890G>C	ENST00000602557.1	-	20	3343	c.2788C>G	c.(2788-2790)Cta>Gta	p.L930V	CSMD1_ENST00000542608.1_Missense_Mutation_p.L929V|CSMD1_ENST00000539096.1_Missense_Mutation_p.L929V|CSMD1_ENST00000520002.1_Missense_Mutation_p.L930V|CSMD1_ENST00000602723.1_Missense_Mutation_p.L930V|CSMD1_ENST00000400186.3_Missense_Mutation_p.L930V|CSMD1_ENST00000537824.1_Missense_Mutation_p.L929V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	930						integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCTCCACATAGAGCTTAAAAT	0.388000													5	18					0	0	1	0	0
PFKFB2	5208	broad.mit.edu	37	1	207245702	207245702	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:207245702G>A	ENST00000367080.3	+	15	1628	c.1504G>A	c.(1504-1506)Gaa>Aaa	p.E502K	PFKFB2_ENST00000545806.1_Missense_Mutation_p.E469K|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000541914.1_Intron|PFKFB2_ENST00000367079.2_Intron	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	502	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GGACATGCAAGAAGGGGCCGA	0.577000													14	75					0	0	1	0	0
CHID1	66005	broad.mit.edu	37	11	883271	883271	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:883271C>G	ENST00000449825.1	-	10	1192	c.836G>C	c.(835-837)cGa>cCa	p.R279P	CHID1_ENST00000429789.2_Missense_Mutation_p.R248P|CHID1_ENST00000323541.7_Missense_Mutation_p.R309P|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Missense_Mutation_p.R279P|CHID1_ENST00000336845.5_Missense_Mutation_p.R304P|CHID1_ENST00000454838.2_Missense_Mutation_p.R304P|CHID1_ENST00000323578.8_Missense_Mutation_p.R279P|CHID1_ENST00000528581.1_Missense_Mutation_p.R304P	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	279					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		GACGCAGGCTCGAACCCAGGA	0.622000													13	98					0	0	1	0	0
KDM6A	7403	broad.mit.edu	37	X	44918514	44918514	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:44918514C>T	ENST00000377967.4	+	12	1038	c.997C>T	c.(997-999)Cag>Tag	p.Q333*	KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q333*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q333*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q333*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	333					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)|p.Q333*(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGCAAAATCAGCCCATGGA	0.403000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								9	37					0	0	1	0	0
ZWINT	11130	broad.mit.edu	37	10	58119876	58119876	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:58119876G>C	ENST00000373944.3	-	3	197	c.159C>G	c.(157-159)ctC>ctG	p.L53L	ZWINT_ENST00000361148.6_Silent_p.L53L|ZWINT_ENST00000395405.1_Silent_p.L53L			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	53					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GCTGGCTGCAGAGCAGCTTGT	0.552000													18	60					0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562295	142562295	+	Missense_Mutation	SNP	A	A	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:142562295A>T	ENST00000392957.2	+	7	1524	c.737A>T	c.(736-738)cAg>cTg	p.Q246L	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Missense_Mutation_p.Q246L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	246	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCAGAGACGCAGGCCAGTGGG	0.672000													19	114					0	0	1	0	0
OR51G2	81282	broad.mit.edu	37	11	4936549	4936549	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:4936549G>A	ENST00000322013.3	-	1	373	c.345C>T	c.(343-345)ctC>ctT	p.L115L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAGGACTCGAGGAAGGAGA	0.502000													5	35					0	0	1	0	0
INPP5B	3633	broad.mit.edu	37	1	38332209	38332209	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:38332209G>C	ENST00000373023.2	-	21	2641	c.2548C>G	c.(2548-2550)Ctg>Gtg	p.L850V	INPP5B_ENST00000373027.1_Missense_Mutation_p.L606V|INPP5B_ENST00000373026.1_Missense_Mutation_p.L850V|INPP5B_ENST00000373024.3_Missense_Mutation_p.L770V	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	850	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCTGAAACAGATCTTCCTGC	0.388000													12	48					0	0	1	0	0
ZNF12	7559	broad.mit.edu	37	7	6731446	6731446	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:6731446G>C	ENST00000405858.1	-	5	1668	c.1127C>G	c.(1126-1128)tCa>tGa	p.S376*	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.S338*|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.S302*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	376					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TCTCTCTCCTGAATGTGTTCT	0.428000													7	55					0	0	1	0	0
PYCARD	29108	broad.mit.edu	37	16	31212907	31212907	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:31212907C>T	ENST00000247470.9	-	3	888	c.587G>A	c.(586-588)tGa>tAa	p.*196*	PYCARD_ENST00000350605.4_Silent_p.*177*	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	0					induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						GAAGGAGCCTCAGCTCCGCTC	0.537000													12	98					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134146935	134146935	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:134146935G>A	ENST00000452510.2	+	17	2331	c.2173G>A	c.(2173-2175)Gag>Aag	p.E725K	DDX46_ENST00000354283.4_Missense_Mutation_p.E725K	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	725	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTTTATCACAGAGGATCAAGC	0.358000													15	72					0	0	1	0	0
PUS1	80324	broad.mit.edu	37	12	132426504	132426504	+	Silent	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:132426504C>A	ENST00000542167.2	+	4	1806	c.1053C>A	c.(1051-1053)ctC>ctA	p.L351L	PUS1_ENST00000376649.3_Silent_p.L404L|PUS1_ENST00000440818.2_Silent_p.L376L|PUS1_ENST00000443358.2_Silent_p.L376L|PUS1_ENST00000535067.1_Intron			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	404						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CCACCGCTCTCACGGCAGGTG	0.617000													7	18					2.0095e-06	2.05786e-06	1	1	0
LRRC41	10489	broad.mit.edu	37	1	46751426	46751426	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:46751426G>C	ENST00000343304.6	-	4	1388	c.1103C>G	c.(1102-1104)tCt>tGt	p.S368C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	368										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTAGAAGAAGAGGCAGAGGA	0.602000													15	115					0	0	1	0	0
USP36	57602	broad.mit.edu	37	17	76832305	76832305	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:76832305C>G	ENST00000542802.3	-	3	584	c.141G>C	c.(139-141)aaG>aaC	p.K47N	USP36_ENST00000312010.6_Missense_Mutation_p.K47N|USP36_ENST00000590546.2_Missense_Mutation_p.K47N|USP36_ENST00000589424.1_Missense_Mutation_p.K47N			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			AGGAGAAGCTCTTGCTGGCTG	0.537000													16	48					0	0	1	0	0
CCDC57	284001	broad.mit.edu	37	17	80159550	80159550	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:80159550C>T	ENST00000392347.1	-	2	307	c.271G>A	c.(271-273)Gag>Aag	p.E91K	CCDC57_ENST00000392343.3_Missense_Mutation_p.E91K|CCDC57_ENST00000389641.4_Missense_Mutation_p.E91K	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	91										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TCGCTCACCTCTGCCCGCCTG	0.642000													13	88					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38104127	38104127	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:38104127G>A	ENST00000308059.6	+	5	950	c.929G>A	c.(928-930)aGa>aAa	p.R310K	DLEC1_ENST00000346219.3_Missense_Mutation_p.R310K|DLEC1_ENST00000452631.2_Missense_Mutation_p.R310K			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	310					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGCCACAGAGAGAGCTAGAC	0.433000													14	49					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73164576	73164576	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:73164576C>T	ENST00000377110.3	-	24	3796	c.3553G>A	c.(3553-3555)Gat>Aat	p.D1185N	TRPM3_ENST00000357533.2_Missense_Mutation_p.D1189N|TRPM3_ENST00000396285.1_Missense_Mutation_p.D1044N|TRPM3_ENST00000423814.3_Missense_Mutation_p.D1212N|TRPM3_ENST00000360823.2_Missense_Mutation_p.D1047N|TRPM3_ENST00000396280.5_Missense_Mutation_p.D1034N|TRPM3_ENST00000396292.4_Missense_Mutation_p.D1057N|TRPM3_ENST00000377111.2_Missense_Mutation_p.D1185N|TRPM3_ENST00000377106.1_Missense_Mutation_p.D1057N|TRPM3_ENST00000358082.3_Missense_Mutation_p.D1047N|TRPM3_ENST00000408909.2_Missense_Mutation_p.D1044N|TRPM3_ENST00000377105.1_Missense_Mutation_p.D1044N			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTCATCATCGGTTATGAAG	0.388000													10	36					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4789839	4789839	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:4789839C>T	ENST00000355280.6	+	10	1063	c.867C>T	c.(865-867)atC>atT	p.I289I	MINK1_ENST00000347992.7_Silent_p.I289I|MINK1_ENST00000453408.3_Silent_p.I289I	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	289	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TTCCCTTCATCCGGGACCAGC	0.557000													19	106					0	0	1	0	0
LAIR1	3903	broad.mit.edu	37	19	54868131	54868131	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:54868131G>A	ENST00000391743.3	-	5	778	c.498C>T	c.(496-498)ttC>ttT	p.F166F	LAIR1_ENST00000434277.2_Silent_p.F183F|LAIR1_ENST00000313038.6_Silent_p.F177F|LAIR1_ENST00000391742.2_Silent_p.F184F|LAIR1_ENST00000463489.1_5'UTR|LAIR1_ENST00000474878.1_Silent_p.F166F|LAIR1_ENST00000348231.4_Silent_p.F167F			Q6GTX8	LAIR1_HUMAN	leukocyte-associated immunoglobulin-like receptor 1	184						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GATGGAGGCAGAAGAGGACCA	0.547000													12	60					0	0	1	0	0
TPRN	286262	broad.mit.edu	37	9	140087040	140087040	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:140087040T>A	ENST00000409012.4	-	2	1915	c.1829A>T	c.(1828-1830)gAg>gTg	p.E610V	TPRN_ENST00000321773.2_Missense_Mutation_p.E549V	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	610	Glu-rich.				sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						ctcctcctcctcctcctcctc	0.582000													3	28					0	0	1	0	0
CSNK1G2	1455	broad.mit.edu	37	19	1980192	1980192	+	Missense_Mutation	SNP	G	G	A	rs143259235		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:1980192G>A	ENST00000255641.8	+	12	1733	c.1238G>A	c.(1237-1239)cGa>cAa	p.R413Q		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	413					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGCTGCAGCGACACAAGTGA	0.662000													12	57					0	0	1	0	0
FLT4	2324	broad.mit.edu	37	5	180043904	180043904	+	Missense_Mutation	SNP	C	C	T	rs56082504		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:180043904C>T	ENST00000261937.6	-	22	3170	c.3092G>A	c.(3091-3093)cGa>cAa	p.R1031Q	FLT4_ENST00000393347.3_Missense_Mutation_p.R1031Q|FLT4_ENST00000502649.1_Missense_Mutation_p.R1031Q	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1031	Protein kinase.		R -> Q (in dbSNP:rs56082504).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCACCTTTCGGGAAGCCAG	0.592000													18	82					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10696492	10696492	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:10696492G>A	ENST00000302079.6	-	42	6533	c.6534C>T	c.(6532-6534)ctC>ctT	p.L2178L	PIEZO2_ENST00000503781.3_Silent_p.L2178L|PIEZO2_ENST00000580640.1_Silent_p.L2203L|PIEZO2_ENST00000285141.4_Silent_p.L33L|PIEZO2_ENST00000538948.1_Silent_p.L135L			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2178						integral to membrane	ion channel activity										CCGGGTGGATGAGGTTGTAAA	0.517000													6	55					0	0	1	0	0
ZNF398	57541	broad.mit.edu	37	7	148863325	148863325	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:148863325G>C	ENST00000475153.1	+	3	763	c.496G>C	c.(496-498)Gaa>Caa	p.E166Q	ZNF398_ENST00000540950.1_Missense_Mutation_p.E171Q|ZNF398_ENST00000485111.1_3'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	166	KRAB.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ATGGCAAAAGGAACTTTACAA	0.428000													18	73					0	0	1	0	0
TEX15	56154	broad.mit.edu	37	8	30701223	30701223	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:30701223C>G	ENST00000256246.2	-	1	5385	c.5311G>C	c.(5311-5313)Gaa>Caa	p.E1771Q		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1771										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTTGTTTCTTCAAGCAATTCA	0.333000													12	48					0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30081176	30081176	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:30081176G>A	ENST00000566897.1	+	11	1977	c.825G>A	c.(823-825)caG>caA	p.Q275Q	ALDOA_ENST00000563060.2_Silent_p.Q275Q|ALDOA_ENST00000395248.1_Silent_p.Q329Q|ALDOA_ENST00000564595.2_Silent_p.Q329Q|ALDOA_ENST00000569798.1_Silent_p.Q275Q|ALDOA_ENST00000564546.1_Silent_p.Q275Q|ALDOA_ENST00000395240.3_Silent_p.Q279Q|ALDOA_ENST00000338110.5_Silent_p.Q275Q|ALDOA_ENST00000412304.2_Silent_p.Q275Q|ALDOA_ENST00000569545.1_Silent_p.Q275Q			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	275					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding	p.Q275H(1)		breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CTGGAGGCCAGAGTGAGGAGG	0.627000													6	40					0	0	1	0	0
TUBA3D	113457	broad.mit.edu	37	2	132238010	132238010	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:132238010G>A	ENST00000321253.6	+	4	851	c.744G>A	c.(742-744)ctG>ctA	p.L248L		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	248					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		ATGGGGCCCTGAATGTGGACT	0.577000													11	83					0	0	1	0	0
CALN1	83698	broad.mit.edu	37	7	71571256	71571256	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:71571256G>C	ENST00000395275.2	-	4	656	c.268C>G	c.(268-270)Ctg>Gtg	p.L90V	CALN1_ENST00000395276.2_Missense_Mutation_p.L48V|CALN1_ENST00000405452.2_Missense_Mutation_p.L48V|CALN1_ENST00000431984.1_Missense_Mutation_p.L48V|CALN1_ENST00000412588.1_Missense_Mutation_p.L90V|CALN1_ENST00000329008.5_Missense_Mutation_p.L48V	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	48	EF-hand 2.					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCCCGGTCCAGAACCCGAAAG	0.532000													11	45					0	0	1	0	0
CACTIN	58509	broad.mit.edu	37	19	3624086	3624086	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:3624086G>A	ENST00000429344.2	-	2	294	c.242C>T	c.(241-243)tCa>tTa	p.S81L	CACTIN_ENST00000221899.3_Missense_Mutation_p.S13L|CACTIN_ENST00000248420.5_Missense_Mutation_p.S81L	NM_001080543.1	NP_001074012.1			cactin, spliceosome C complex subunit																		CCCATCTCTTGAGTGCCACTT	0.672000													22	90					0	0	1	0	0
ARID3B	10620	broad.mit.edu	37	15	74836524	74836524	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:74836524G>C	ENST00000346246.5	+	2	478	c.247G>C	c.(247-249)Gaa>Caa	p.E83Q		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCAAGTGTTTGAACGGGGCAA	0.567000													6	50					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1825877	1825877	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:1825877C>T	ENST00000170168.4	-	3	2071	c.1977G>A	c.(1975-1977)caG>caA	p.Q659Q		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	659						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCTCCTCTTCTGCCCGGGGA	0.552000													6	60					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52199198	52199198	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:52199198G>C	ENST00000371471.2	-	2	593	c.168C>G	c.(166-168)gtC>gtG	p.V56V	ZNF217_ENST00000302342.3_Silent_p.V56V			O75362	ZN217_HUMAN	zinc finger protein 217	56					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CGATTTGGATGACATTTTTTT	0.468000													21	84					0	0	1	0	0
FAM83G	644815	broad.mit.edu	37	17	18907176	18907176	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:18907176G>C	ENST00000388995.6	-	2	402	c.179C>G	c.(178-180)tCg>tGg	p.S60W	SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.S60W|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.S60W			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	60										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTCCAGCTCCGAGAGGAAGTC	0.682000													8	46					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183817958	183817958	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:183817958G>C	ENST00000361354.4	-	21	2627	c.2255C>G	c.(2254-2256)tCa>tGa	p.S752*	NCKAP1_ENST00000360982.2_Nonsense_Mutation_p.S758*	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTTTTCTATTGACTGGAGTAC	0.358000													18	73					0	0	1	0	0
TRPS1	7227	broad.mit.edu	37	8	116599776	116599776	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:116599776G>C	ENST00000395715.3	-	5	2729	c.2152C>G	c.(2152-2154)Cag>Gag	p.Q718E	TRPS1_ENST00000519076.1_Missense_Mutation_p.Q459E|TRPS1_ENST00000220888.5_Missense_Mutation_p.Q705E|TRPS1_ENST00000520276.1_Missense_Mutation_p.Q709E|TRPS1_ENST00000519674.1_Missense_Mutation_p.Q705E	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	705	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AGTAGTGACTGAGTATCGGCA	0.498000									Langer-Giedion syndrome				5	120					0	0	1	0	0
SRPK3	26576	broad.mit.edu	37	X	153050895	153050895	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:153050895C>G	ENST00000489426.1	+	21	4191	c.1825C>G	c.(1825-1827)Ctg>Gtg	p.L609V	SRPK3_ENST00000370104.1_Missense_Mutation_p.L541V|SRPK3_ENST00000393786.3_Missense_Mutation_p.L508V|SRPK3_ENST00000370108.3_Missense_Mutation_p.L509V|SRPK3_ENST00000370101.3_Missense_Mutation_p.L542V|SRPK3_ENST00000370100.1_Missense_Mutation_p.L467V			Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	542					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGCCTTTCTGCTGCCCAT	0.617000													12	58					0	0	1	0	0
DGKH	160851	broad.mit.edu	37	13	42622968	42622968	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:42622968G>C	ENST00000261491.5	+	1	80	c.59G>C	c.(58-60)gGa>gCa	p.G20A	DGKH_ENST00000337343.4_Missense_Mutation_p.G20A|DGKH_ENST00000379274.2_5'UTR|DGKH_ENST00000540693.1_Missense_Mutation_p.G20A	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCGGCCGCCGGAGCCGGCGCC	0.756000													3	4					0	0	1	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13928140	13928140	+	Missense_Mutation	SNP	G	G	C	rs140227825		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:13928140G>C	ENST00000254323.2	+	7	1480	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.E265Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	431							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CTGTCGTCTGGAGGAGGAGAC	0.647000													14	96					0	0	1	0	0
ADORA1	134	broad.mit.edu	37	1	203135020	203135020	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:203135020G>C	ENST00000367236.4	+	3	1894	c.973G>C	c.(973-975)Gat>Cat	p.D325H	ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000309502.3_Missense_Mutation_p.D325H|ADORA1_ENST00000337894.4_Missense_Mutation_p.D325H|ADORA1_ENST00000367235.1_3'UTR	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	325					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	AGAGAGGCCTGATGACTAGAC	0.602000													6	45					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124532351	124532351	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:124532351G>C	ENST00000357628.3	-	6	691	c.93C>G	c.(91-93)ttC>ttG	p.F31L	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	31					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GGGGCTTAAAGAACTTCACAA	0.378000													46	199					0	0	1	0	0
AGAP2	116986	broad.mit.edu	37	12	58135768	58135768	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:58135768G>C	ENST00000257897.3	-	1	172	c.87C>G	c.(85-87)ctC>ctG	p.L29L	TSPAN31_ENST00000553221.1_Intron	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	0					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCAGCTTCCTGAGGCGGTTTA	0.572000													19	111					0	0	1	0	0
SLC28A2	9153	broad.mit.edu	37	15	45555411	45555411	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:45555411G>A	ENST00000347644.3	+	5	480	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	139					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GAAGCCCTTTGAAAACTCCCG	0.443000													16	74					0	0	1	0	0
IFT172	26160	broad.mit.edu	37	2	27680610	27680610	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:27680610C>T	ENST00000260570.3	-	29	3227	c.3124G>A	c.(3124-3126)Gaa>Aaa	p.E1042K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1042					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGTCGGCCTTCAGCCTCCAGC	0.587000													12	50					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18023320	18023320	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:18023320G>A	ENST00000205890.5	+	2	1544	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	402	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATTTTTACCCGGAGGAGTCGG	0.637000													18	96					0	0	1	0	0
DYRK1B	9149	broad.mit.edu	37	19	40318257	40318257	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:40318257C>G	ENST00000593685.1	-	7	1315	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	DYRK1B_ENST00000430012.2_Missense_Mutation_p.E283Q|DYRK1B_ENST00000348817.3_Missense_Mutation_p.E283Q|DYRK1B_ENST00000597639.1_Missense_Mutation_p.E283Q|DYRK1B_ENST00000323039.5_Missense_Mutation_p.E283Q			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	283	Protein kinase.				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			AGGAGCACCTCAGGTGAGCGG	0.597000													4	85					0	0	1	0	0
DCBLD2	131566	broad.mit.edu	37	3	98536636	98536636	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:98536636C>T	ENST00000326840.6	-	9	1551	c.1189G>A	c.(1189-1191)Gag>Aag	p.E397K	DCBLD2_ENST00000326857.9_Missense_Mutation_p.E397K	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	397	F5/8 type C.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						ACACCAGGCTCTCTGTACACA	0.413000													4	57					0	0	1	0	0
BICD1	636	broad.mit.edu	37	12	32487456	32487456	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:32487456G>A	ENST00000548411.1	+	6	2288	c.2107G>A	c.(2107-2109)Gag>Aag	p.E703K	BICD1_ENST00000281474.5_Missense_Mutation_p.E703K	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	703	Interacts with RAB6A.				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TTAGACAGCTGAGGTGGCGCT	0.358000													9	38					0	0	1	0	0
CPT1C	126129	broad.mit.edu	37	19	50195567	50195567	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:50195567G>C	ENST00000392518.4	+	3	430	c.58G>C	c.(58-60)Gaa>Caa	p.E20Q	CPT1C_ENST00000354199.5_Missense_Mutation_p.E20Q|CPT1C_ENST00000323446.5_Missense_Mutation_p.E20Q|CPT1C_ENST00000405931.2_Missense_Mutation_p.E20Q|CPT1C_ENST00000598714.1_3'UTR|CPT1C_ENST00000598293.1_Missense_Mutation_p.E20Q	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	20					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		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;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGACGGGGCTGAAGTGGAACT	0.627000													8	34					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219532976	219532976	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:219532976G>A	ENST00000295704.2	-	3	645	c.205C>T	c.(205-207)Cag>Tag	p.Q69*		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	69	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGGGACCTGAAGCACCAGA	0.547000													15	94					0	0	1	0	0
ZNF433	163059	broad.mit.edu	37	19	12126028	12126028	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:12126028G>A	ENST00000419886.2	-	5	1840	c.1549C>T	c.(1549-1551)Cat>Tat	p.H517Y	ZNF433_ENST00000344980.6_Missense_Mutation_p.H552Y|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GTCCTTCCATGAATTTGAAGC	0.463000													22	139					0	0	1	0	0
PPP1R13B	23368	broad.mit.edu	37	14	104216224	104216224	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:104216224C>T	ENST00000202556.9	-	8	1158	c.876G>A	c.(874-876)caG>caA	p.Q292Q		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	292	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				AGAGTTCCTTCTGCTGCTGAA	0.378000													19	104					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17434510	17434510	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:17434510G>A	ENST00000262545.2	+	9	1324	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N	PCSK2_ENST00000377899.1_Missense_Mutation_p.D318N|PCSK2_ENST00000536609.1_Missense_Mutation_p.D302N	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	337	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCCATCAACGACGGCAGGAC	0.622000													9	70					0	0	1	0	0
TBCK	93627	broad.mit.edu	37	4	106967792	106967792	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:106967792G>C	ENST00000273980.5	-	27	3064	c.2617C>G	c.(2617-2619)Cta>Gta	p.L873V	TBCK_ENST00000394708.2_Missense_Mutation_p.L873V|TBCK_ENST00000394706.3_Missense_Mutation_p.L834V|TBCK_ENST00000361687.4_Missense_Mutation_p.L810V|TBCK_ENST00000432496.2_Missense_Mutation_p.L873V			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CCACCATCTAGAATACAGATT	0.393000													8	31					0	0	1	0	0
HNRNPCL1	343069	broad.mit.edu	37	1	12907618	12907618	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:12907618C>A	ENST00000317869.6	-	2	750	c.525G>T	c.(523-525)ttG>ttT	p.L175F		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CATCACCTTTCAACTTTCCAG	0.448000													52	225					1.4374e-25	1.50113e-25	1	1	0
TNFRSF1B	7133	broad.mit.edu	37	1	12254037	12254037	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:12254037G>C	ENST00000376259.3	+	7	902	c.813G>C	c.(811-813)ttG>ttC	p.L271F	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	271					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TGACAGCCTTGGGTCTACTAA	0.463000													6	72					0	0	1	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160251091	160251091	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:160251091G>C	ENST00000264431.4	+	6	1167	c.748G>C	c.(748-750)Gag>Cag	p.E250Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	250					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AGAGGAAGGAGAGATTGTTAT	0.423000													19	79					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144994603	144994603	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:144994603T>C	ENST00000322810.4	-	32	9966	c.9797A>G	c.(9796-9798)cAg>cGg	p.Q3266R	PLEC_ENST00000345136.3_Missense_Mutation_p.Q3129R|PLEC_ENST00000354589.3_Missense_Mutation_p.Q3129R|PLEC_ENST00000357649.2_Missense_Mutation_p.Q3133R|PLEC_ENST00000527096.1_Missense_Mutation_p.Q3152R|PLEC_ENST00000398774.2_Missense_Mutation_p.Q3097R|PLEC_ENST00000436759.2_Missense_Mutation_p.Q3156R|PLEC_ENST00000354958.2_Missense_Mutation_p.Q3107R|PLEC_ENST00000356346.3_Missense_Mutation_p.Q3115R	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3266	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCAGGCCCTGCTCCCGGGG	0.682000													5	26					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70639431	70639431	+	Missense_Mutation	SNP	C	C	T	rs150284256	byFrequency	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:70639431C>T	ENST00000322773.4	+	6	607	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	169	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.R169C(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TTTGTTTGATCGTCAGTGGCA	0.403000													14	61					0	0	1	0	0
LRIG1	26018	broad.mit.edu	37	3	66449420	66449420	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:66449420G>A	ENST00000383703.3	-	11	1881	c.1278C>T	c.(1276-1278)ttC>ttT	p.F426F	LRIG1_ENST00000273261.3_Silent_p.F402F|LRIG1_ENST00000496559.2_5'UTR			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	402						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CCAGCCCCGAGAATGCTCTCT	0.527000													6	32					0	0	1	0	0
OR52E2	119678	broad.mit.edu	37	11	5080205	5080205	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:5080205G>C	ENST00000321522.2	-	1	652	c.653C>G	c.(652-654)tCt>tGt	p.S218C		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGCACATAAGAAAGGGCAAT	0.413000													14	55					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15918788	15918788	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:15918788G>A	ENST00000334920.2	-	1	148	c.60C>T	c.(58-60)ttC>ttT	p.F20F		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						GGAGGTGGGGGAAGACAGAGA	0.582000													25	107					0	0	1	0	0
S100A7	6278	broad.mit.edu	37	1	153431477	153431477	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:153431477G>C	ENST00000368723.3	-	2	123	c.13C>G	c.(13-15)Caa>Gaa	p.Q5E	S100A7_ENST00000368722.1_Missense_Mutation_p.Q5E	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	5					angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCTCAGCTTGAGTGTTGCTC	0.413000													23	137					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20055855	20055855	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:20055855G>C	ENST00000245957.5	+	5	470	c.394G>C	c.(394-396)Gag>Cag	p.E132Q	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.E132Q|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Missense_Mutation_p.E132Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	132										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGCAGTGCCAGAGCTGCACTT	0.502000													18	70					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7248826	7248826	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:7248826G>A	ENST00000379938.2	+	13	5391	c.4854G>A	c.(4852-4854)caG>caA	p.Q1618Q	RREB1_ENST00000349384.6_Silent_p.Q1563Q|RREB1_ENST00000379933.3_Silent_p.Q1563Q|RREB1_ENST00000334984.6_Silent_p.Q1352Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1563					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGATCCACCAGAAAGCCAGGC	0.577000													8	48					0	0	1	0	0
TCEB3C	162699	broad.mit.edu	37	18	44555158	44555158	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:44555158G>C	ENST00000330682.2	-	1	1291	c.1056C>G	c.(1054-1056)ctC>ctG	p.L352L	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	352	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.L352L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						CCACGTCGCCGAGGGCGTCCG	0.652000													12	667					0	0	1	0	0
STK36	27148	broad.mit.edu	37	2	219561852	219561852	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:219561852G>A	ENST00000295709.3	+	23	2956	c.2677G>A	c.(2677-2679)Gag>Aag	p.E893K	STK36_ENST00000392106.2_Missense_Mutation_p.E872K|STK36_ENST00000392105.3_Missense_Mutation_p.E872K|STK36_ENST00000440309.1_Missense_Mutation_p.E893K	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	893					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		GAGGCTCCCCGAGGAGGCATC	0.537000													32	206					0	0	1	0	0
JAZF1	221895	broad.mit.edu	37	7	27880454	27880454	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:27880454C>T	ENST00000283928.5	-	4	583	c.418G>A	c.(418-420)Gag>Aag	p.E140K	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	140					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCCGACTCCTCATAGTCCACC	0.572000			T	SUZ12	endometrial stromal tumours								20	105					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105561083	105561083	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:105561083G>A	ENST00000369774.4	-	2	386	c.110C>T	c.(109-111)tCc>tTc	p.S37F	SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.S37F			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	37	PX.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GATAGTCTGGGAGGTGGAGTC	0.527000													10	44					0	0	1	0	0
F2RL2	2151	broad.mit.edu	37	5	75914343	75914343	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:75914343C>T	ENST00000296641.4	-	2	392	c.189G>A	c.(187-189)acG>acA	p.T63T	IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Silent_p.T41T|IQGAP2_ENST00000396234.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000379730.3_Intron	NM_004101.3	NP_004092.1	O00254	PAR3_HUMAN	coagulation factor II (thrombin) receptor-like 2	63					platelet activation	extracellular region|integral to plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3)	32		all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)		TTACAGTAATCGTGGCTCCTG	0.458000													27	123					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100562352	100562352	+	RNA	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:100562352C>T	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						ATTCTGATTTCTCCTGCTTCA	0.448000													5	19					0	0	1	0	0
TEX9	374618	broad.mit.edu	37	15	56719898	56719898	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:56719898G>A	ENST00000537232.1	+	11	1295	c.834G>A	c.(832-834)aaG>aaA	p.K278K	TEX9_ENST00000560582.1_Intron|TEX9_ENST00000352903.2_Silent_p.K353K|MNS1_ENST00000566386.1_Intron			Q8N6V9	TEX9_HUMAN	testis expressed 9	353										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TAGGGTTCAAGAAACAGTTAA	0.249000													31	202					0	0	1	0	0
C3orf52	79669	broad.mit.edu	37	3	111831982	111831982	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:111831982C>G	ENST00000264848.5	+	5	698	c.639C>G	c.(637-639)ctC>ctG	p.L213L	C3orf52_ENST00000431717.2_Intron|C3orf52_ENST00000467942.2_3'UTR|C3orf52_ENST00000430855.1_Intron	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	213						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CAACATCCCTCTTGCTCTATG	0.448000													6	20					0	0	1	0	0
SLC30A7	148867	broad.mit.edu	37	1	101387367	101387367	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:101387367C>T	ENST00000370112.4	+	8	999	c.812C>T	c.(811-813)tCa>tTa	p.S271L	SLC30A7_ENST00000357650.4_Missense_Mutation_p.S271L	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	271					zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		CCTATCTGTTCAATTCTTATA	0.318000													32	161					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78280188	78280188	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:78280188C>T	ENST00000582970.1	+	12	2490	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C	RNF213_ENST00000508628.2_Missense_Mutation_p.R832C|RNF213_ENST00000456466.1_Missense_Mutation_p.R783C|RNF213_ENST00000319921.4_Missense_Mutation_p.R783C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	783										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GCACCTGGGTCGTTTTCCTGC	0.488000													30	135					0	0	1	0	0
CLEC5A	23601	broad.mit.edu	37	7	141629960	141629960	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:141629960C>G	ENST00000546910.1	-	7	707	c.511G>C	c.(511-513)Gat>Cat	p.D171H	CLEC5A_ENST00000439991.1_Missense_Mutation_p.D67H|MGAM_ENST00000497554.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.D148H	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	171	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GATGCAGCATCAAATGTCTTT	0.373000													24	122					0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21755734	21755734	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:21755734C>G	ENST00000382254.1	-	14	2937	c.1851G>C	c.(1849-1851)ttG>ttC	p.L617F	CDH12_ENST00000504376.2_Missense_Mutation_p.L617F|CDH12_ENST00000522262.1_Missense_Mutation_p.L577F|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	617					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAATTGCAATCAACGCCCCAG	0.388000										HNSCC(59;0.17)			14	68					0	0	1	0	0
PXMP2	5827	broad.mit.edu	37	12	133281207	133281207	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:133281207C>T	ENST00000545677.1	+	4	339	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	PXMP2_ENST00000539093.1_Missense_Mutation_p.P46S|PXMP2_ENST00000317479.3_Silent_p.F174F|PXMP2_ENST00000428960.2_Missense_Mutation_p.P127S|RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.P46S|PXMP2_ENST00000543589.1_Missense_Mutation_p.S80F			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	3						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		TTCGGCAGTTCCGGGTGCTCT	0.582000													16	79					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98509802	98509802	+	Missense_Mutation	SNP	C	C	A	rs147405090		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:98509802C>A	ENST00000359863.4	+	18	2374	c.2165C>A	c.(2164-2166)tCc>tAc	p.S722Y	TRRAP_ENST00000355540.3_Missense_Mutation_p.S722Y|TRRAP_ENST00000446306.3_Missense_Mutation_p.S721Y	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	722					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.S722F(10)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTCTGTCTCCCTCTTTGCA	0.463000													22	93					4.26978e-12	4.42407e-12	1	1	0
OR7A5	26659	broad.mit.edu	37	19	14939034	14939034	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:14939034G>A	ENST00000322301.3	-	2	107	c.20C>T	c.(19-21)aCa>aTa	p.T7I	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Missense_Mutation_p.T7I			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TGAAATTTGTGTATCATTTCC	0.438000													8	43					0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130674733	130674733	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:130674733T>G	ENST00000335791.5	-	4	700	c.425A>C	c.(424-426)aAg>aCg	p.K142T	ST6GALNAC4_ENST00000343609.2_Missense_Mutation_p.K58T|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	142					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GTCTCGGGCCTTCTGGAAGTA	0.652000													16	73					0	0	1	0	0
COPB2	9276	broad.mit.edu	37	3	139102140	139102140	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:139102140C>T	ENST00000333188.5	-	2	322	c.141G>A	c.(139-141)caG>caA	p.Q47Q	COPB2_ENST00000507777.1_Splice_Site_p.Q18Q|COPB2_ENST00000510491.1_5'UTR	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	47					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						AAATTCCTACCTGTGTTTCAT	0.358000													9	58					0	0	1	0	0
OPTN	10133	broad.mit.edu	37	10	13151153	13151153	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:13151153G>A	ENST00000378748.3	+	4	393	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	OPTN_ENST00000378752.3_Missense_Mutation_p.E11K|OPTN_ENST00000263036.5_Missense_Mutation_p.E11K|OPTN_ENST00000482140.1_3'UTR|OPTN_ENST00000378757.2_Missense_Mutation_p.E11K|OPTN_ENST00000378764.2_Missense_Mutation_p.E11K|OPTN_ENST00000378747.3_Missense_Mutation_p.E11K	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	11					cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CTGCCTCACTGAAAAGGAGGA	0.582000													10	114					0	0	1	0	0
STIP1	10963	broad.mit.edu	37	11	63967681	63967681	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:63967681C>G	ENST00000358794.5	+	10	1855	c.1302C>G	c.(1300-1302)atC>atG	p.I434M	STIP1_ENST00000538945.1_Missense_Mutation_p.I363M|STIP1_ENST00000305218.4_Missense_Mutation_p.I387M	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	387					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CAGAAGCCATCAAAAGGAACC	0.493000													51	286					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166198841	166198841	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:166198841C>G	ENST00000357398.3	+	15	2714	c.2424C>G	c.(2422-2424)ctC>ctG	p.L808L	SCN2A_ENST00000375427.2_Silent_p.L808L|SCN2A_ENST00000283256.6_Silent_p.L808L|SCN2A_ENST00000375437.2_Silent_p.L808L			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	808					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AAATGTTTCTCAAGATAATTG	0.338000													11	93					0	0	1	0	0
ERBB2	2064	broad.mit.edu	37	17	37863257	37863257	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:37863257G>C	ENST00000269571.5	+	2	247	c.88G>C	c.(88-90)Gac>Cac	p.D30H	ERBB2_ENST00000578199.1_5'UTR|ERBB2_ENST00000540147.1_5'UTR|ERBB2_ENST00000540042.1_5'UTR|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000406381.2_5'UTR|ERBB2_ENST00000584450.1_Missense_Mutation_p.D30H|ERBB2_ENST00000541774.1_Missense_Mutation_p.D15H|ERBB2_ENST00000584601.1_5'UTR			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	30					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	CACCGGCACAGACATGAAGCT	0.627000		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)			7	51					0	0	1	0	0
PTDSS2	81490	broad.mit.edu	37	11	489482	489482	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:489482C>T	ENST00000308020.5	+	9	1113	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	313						integral to membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CAGCCTGCGTCGCTGGCTGGC	0.692000													8	44					0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7045475	7045475	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:7045475G>A	ENST00000310074.7	+	1	358	c.169G>A	c.(169-171)Ggg>Agg	p.G57R	TADA2B_ENST00000512388.1_Intron|RP11-367J11.2_ENST00000500031.1_RNA	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GGTGGACGGCGGGCGCTTCAC	0.706000													5	7					0	0	1	0	0
LDLRAD2	401944	broad.mit.edu	37	1	22148698	22148698	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:22148698C>G	ENST00000344642.2	+	5	996	c.809C>G	c.(808-810)tCc>tGc	p.S270C	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.S270C|LDLRAD2_ENST00000484271.1_3'UTR	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	270						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		TCCACAGGCTCCACTGAGTGA	0.592000													5	57					0	0	1	0	0
PPP1R35	221908	broad.mit.edu	37	7	100033921	100033921	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:100033921G>T	ENST00000292330.2	-	1	267	c.77C>A	c.(76-78)cCg>cAg	p.P26Q	RP11-758P17.2_ENST00000492523.1_RNA|RP11-758P17.3_ENST00000475250.1_RNA	NM_145030.2	NP_659467.1	Q8TAP8	CG047_HUMAN	protein phosphatase 1, regulatory subunit 35	26	Pro-rich.																TTGGGGCTCCGGGGGTGGCCC	0.716000													3	14					0.00024832	0.000251756	1	1	0
OOEP	441161	broad.mit.edu	37	6	74079008	74079008	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:74079008G>A	ENST00000370363.1	-	3	618	c.126C>T	c.(124-126)ttC>ttT	p.F42F	OOEP_ENST00000370359.5_Silent_p.F97F			A6NGQ2	OOEP_HUMAN	oocyte expressed protein	97						cytoplasm		p.F97F(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GGGGCCGCCCGAAAACGGTGA	0.567000													9	42					0	0	1	0	0
SH3BGR	6450	broad.mit.edu	37	21	40834402	40834402	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:40834402G>A	ENST00000333634.4	+	2	414	c.336G>A	c.(334-336)atG>atA	p.M112I	SH3BGR_ENST00000458295.1_Start_Codon_SNP_p.M1I|SH3BGR_ENST00000380637.3_Start_Codon_SNP_p.M1I|SH3BGR_ENST00000380634.1_Start_Codon_SNP_p.M1I|SH3BGR_ENST00000380631.1_Start_Codon_SNP_p.M1I	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	112					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		GGAGGTGGATGAGAGAGAATG	0.423000													11	52					0	0	1	0	0
GPR162	27239	broad.mit.edu	37	12	6933319	6933319	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:6933319G>C	ENST00000311268.3	+	2	1042	c.255G>C	c.(253-255)tgG>tgC	p.W85C	GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	85						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACTATGACTGGAACGAGAGTA	0.597000													15	88					0	0	1	0	0
ENTPD3	956	broad.mit.edu	37	3	40453376	40453376	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:40453376C>G	ENST00000301825.3	+	5	478	c.360C>G	c.(358-360)gtC>gtG	p.V120V	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.V120V|ENTPD3_ENST00000456402.1_Silent_p.V120V	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	120						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGCAAAAAGTCAAGGGGCAGG	0.547000													12	110					0	0	1	0	0
CXCL13	10563	broad.mit.edu	37	4	78527039	78527039	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:78527039C>T	ENST00000286758.4	+	2	98	c.20C>T	c.(19-21)tCt>tTt	p.S7F		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	7					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity	p.S7F(1)		large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						ATCTCGACATCTCTGCTTCTC	0.433000													10	58					0	0	1	0	0
PVRL1	5818	broad.mit.edu	37	11	119510591	119510591	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:119510591C>T	ENST00000341398.2	-	6	1134	c.1135G>A	c.(1135-1137)Gag>Aag	p.E379K	RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCATCCGTCTCCGGTGGGCTC	0.622000													11	46					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72400549	72400549	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:72400549C>T	ENST00000395270.1	+	8	1421	c.380C>T	c.(379-381)tCt>tTt	p.S127F	POM121_ENST00000358357.3_Missense_Mutation_p.S127F|POM121_ENST00000434423.2_Missense_Mutation_p.S392F|POM121_ENST00000446813.1_Missense_Mutation_p.S127F|POM121_ENST00000257622.4_Missense_Mutation_p.S127F	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	392	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TCCCGAAGCTCTTCCATGAGC	0.507000													30	127					0	0	1	0	0
AIM1	202	broad.mit.edu	37	6	106967395	106967395	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:106967395C>G	ENST00000369066.3	+	2	1575	c.1088C>G	c.(1087-1089)tCt>tGt	p.S363C		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	363							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AATGGAGACTCTTCTGAGAAT	0.473000													17	82					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9516147	9516147	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:9516147C>T	ENST00000402466.1	+	22	3986	c.3218C>T	c.(3217-3219)tCa>tTa	p.S1073L	SETD5_ENST00000402198.1_Missense_Mutation_p.S1171L|SETD5_ENST00000302463.6_Missense_Mutation_p.S1073L|SETD5_ENST00000406341.1_Missense_Mutation_p.S1171L|SETD5_ENST00000407969.1_Missense_Mutation_p.S1190L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	1171										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTTCCCACATCAGTAGAACGA	0.522000													7	113					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3935433	3935433	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:3935433C>T	ENST00000381638.2	-	42	7003	c.6879G>A	c.(6877-6879)cgG>cgA	p.R2293R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2293							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTTTCCTCTTCCGAGTTTTGA	0.388000													25	147					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5042639	5042639	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:5042639C>G	ENST00000574788.1	+	22	3398	c.1168C>G	c.(1168-1170)Cca>Gca	p.P390A	USP6_ENST00000250066.6_Missense_Mutation_p.P390A|USP6_ENST00000304328.5_Missense_Mutation_p.P73A|USP6_ENST00000332776.4_Missense_Mutation_p.P390A			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	390					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GCAGGCCCCTCCAGGCCCACC	0.637000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								7	49					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20220920	20220920	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:20220920G>C	ENST00000361479.5	+	3	775	c.707G>C	c.(706-708)aGa>aCa	p.R236T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.R236T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	236	Lys-rich.				cell cycle	cytoplasm|nucleus		p.R236T(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		ggtgaaataagagatttaaag	0.303000													7	38					0	0	1	0	0
DYM	54808	broad.mit.edu	37	18	46645272	46645272	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:46645272C>G	ENST00000269445.6	-	15	2045	c.1588G>C	c.(1588-1590)Gaa>Caa	p.E530Q	RP11-15F12.3_ENST00000585251.1_RNA|DYM_ENST00000442713.2_Missense_Mutation_p.E340Q	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	530						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CGAATCACTTCTTCAATGACA	0.398000													9	78					0	0	1	0	0
F7	2155	broad.mit.edu	37	13	113772909	113772909	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:113772909G>A	ENST00000375581.3	+	9	1023	c.988G>A	c.(988-990)Gag>Aag	p.E330K	F7_ENST00000541084.1_Missense_Mutation_p.E261K|F7_ENST00000346342.3_Missense_Mutation_p.E308K	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	330	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	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;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GACGTTCTCTGAGAGGACGCT	0.677000													7	29					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87563520	87563520	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:87563520G>A	ENST00000376214.1	+	18	2846	c.1908G>A	c.(1906-1908)atG>atA	p.M636I	NTRK2_ENST00000277120.3_Missense_Mutation_p.M636I|NTRK2_ENST00000376213.1_Missense_Mutation_p.M620I|NTRK2_ENST00000323115.4_Missense_Mutation_p.M620I	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	620	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						TTGAGTACATGAAGCATGGGG	0.592000										TSP Lung(25;0.17)			6	35					0	0	1	0	0
TOM1L1	10040	broad.mit.edu	37	17	52981124	52981124	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:52981124C>G	ENST00000575882.1	+	2	467	c.114C>G	c.(112-114)atC>atG	p.I38M	TOM1L1_ENST00000445275.2_Missense_Mutation_p.I38M|TOM1L1_ENST00000348161.4_Intron|TOM1L1_ENST00000540336.1_5'UTR|TOM1L1_ENST00000572405.1_Missense_Mutation_p.I3M|TOM1L1_ENST00000570371.1_Missense_Mutation_p.I38M|TOM1L1_ENST00000536554.1_Intron|TOM1L1_ENST00000575333.1_Missense_Mutation_p.I38M|TOM1L1_ENST00000572158.1_Missense_Mutation_p.I38M	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	38	VHS.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TCATGCACATCTGTGACATAA	0.428000													14	74					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118344991	118344991	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:118344991G>C	ENST00000534358.1	+	3	3140	c.3117G>C	c.(3115-3117)aaG>aaC	p.K1039N	KMT2A_ENST00000354520.4_Missense_Mutation_p.K1039N|KMT2A_ENST00000389506.5_Missense_Mutation_p.K1039N	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		AGATTGAGAAGAGTAAGAGTC	0.463000													10	52					0	0	1	0	0
AHCTF1	25909	broad.mit.edu	37	1	247061536	247061536	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:247061536C>G	ENST00000366508.1	-	12	1838	c.1702G>C	c.(1702-1704)Gat>Cat	p.D568H	AHCTF1_ENST00000326225.3_Missense_Mutation_p.D542H|AHCTF1_ENST00000391829.2_Missense_Mutation_p.D533H|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	533	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGCTGAACATCAACAAATCTT	0.348000													18	80					0	0	1	0	0
TRBV5-6	28609	broad.mit.edu	37	7	142131863	142131863	+	RNA	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:142131863G>A	ENST00000390375.2	-	0	55																											CCCAGCAGAGGAGCCCGGGGC	0.597000													8	48					0	0	1	0	0
PRTG	283659	broad.mit.edu	37	15	55972312	55972312	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:55972312G>A	ENST00000389286.4	-	6	960	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	305	Ig-like 3.				multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GTAGTGGCCCGACAAACATAT	0.408000													6	56					0	0	1	0	0
GHRHR	2692	broad.mit.edu	37	7	31008470	31008470	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:31008470G>C	ENST00000326139.2	+	2	125	c.79G>C	c.(79-81)Gaa>Caa	p.E27Q		NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	27					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CATGCACCCAGAATGTGACTT	0.547000													8	36					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12475489	12475489	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:12475489G>C	ENST00000397026.2	+	9	1680	c.1297G>C	c.(1297-1299)Gag>Cag	p.E433Q	PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397015.2_Missense_Mutation_p.E427Q|PPARG_ENST00000397010.2_Missense_Mutation_p.E427Q|PPARG_ENST00000539812.1_3'UTR|PPARG_ENST00000309576.6_Missense_Mutation_p.E427Q|PPARG_ENST00000397012.2_Missense_Mutation_p.E427Q|PPARG_ENST00000287820.6_Missense_Mutation_p.E455Q			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	455	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	GAACCACCCTGAGTCCTCACA	0.527000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						15	66					0	0	1	0	0
TTLL12	23170	broad.mit.edu	37	22	43579140	43579140	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:43579140C>T	ENST00000216129.6	-	2	256	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	65					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCAAACACTTCCCCAGCGTCG	0.637000													22	102					0	0	1	0	0
IGSF8	93185	broad.mit.edu	37	1	160063782	160063782	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:160063782C>T	ENST00000368086.1	-	3	838	c.622G>A	c.(622-624)Gag>Aag	p.E208K	IGSF8_ENST00000314485.7_Missense_Mutation_p.E208K|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	208	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACTGGTGCCTCGGGCACAGAT	0.632000													15	95					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110784074	110784074	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:110784074G>C	ENST00000395494.2	+	19	3410	c.2847G>C	c.(2845-2847)gtG>gtC	p.V949V	ATP2A2_ENST00000308664.6_Silent_p.V976V|ATP2A2_ENST00000539276.2_Silent_p.V976V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	976					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CCTTGCCCGTGATTCTCATGG	0.547000													12	75					0	0	1	0	0
ZNF823	55552	broad.mit.edu	37	19	11832718	11832718	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:11832718C>T	ENST00000341191.6	-	4	1784	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q	ZNF823_ENST00000545749.1_Missense_Mutation_p.R362Q	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						TCTTTCATGTCGTAGAAGGCA	0.413000										HNSCC(68;0.2)			23	101					0	0	1	0	0
PKD2L1	9033	broad.mit.edu	37	10	102056830	102056830	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:102056830G>C	ENST00000318222.3	-	6	1474	c.1092C>G	c.(1090-1092)ttC>ttG	p.F364L	PKD2L1_ENST00000338519.3_Missense_Mutation_p.F289L|PKD2L1_ENST00000353274.3_Missense_Mutation_p.F364L	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	364					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		CCACATAGTAGAAGATGAAGA	0.522000													8	56					0	0	1	0	0
C2CD3	26005	broad.mit.edu	37	11	73803494	73803494	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:73803494C>G	ENST00000334126.7	-	19	3710	c.3484G>C	c.(3484-3486)Gag>Cag	p.E1162Q	C2CD3_ENST00000313663.7_Missense_Mutation_p.E1162Q			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1162						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTCCTGTTCTCAATCCTGGGG	0.388000													17	83					0	0	1	0	0
DSEL	92126	broad.mit.edu	37	18	65181271	65181271	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:65181271C>T	ENST00000310045.7	-	2	2078	c.605G>A	c.(604-606)cGa>cAa	p.R202Q		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	192						integral to membrane	isomerase activity|sulfotransferase activity	p.R202Q(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTTGTCTTCGATGATTATC	0.398000													8	63					0	0	1	0	0
CLCA2	9635	broad.mit.edu	37	1	86896592	86896592	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:86896592G>C	ENST00000370565.4	+	4	685	c.523G>C	c.(523-525)Gat>Cat	p.D175H		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	175					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGTGTGTTCGATGAGTATAA	0.373000													18	138					0	0	1	0	0
GOLGA5	9950	broad.mit.edu	37	14	93264129	93264129	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:93264129C>G	ENST00000163416.2	+	2	603	c.347C>G	c.(346-348)tCa>tGa	p.S116*	GOLGA5_ENST00000355976.2_Nonsense_Mutation_p.S116*	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	116					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		AGAAAAAAGTCAGAACCTGAT	0.448000			T	RET	papillary thyroid								12	63					0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38145041	38145041	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:38145041G>C	ENST00000264639.4	+	4	829	c.655G>C	c.(655-657)Gag>Cag	p.E219Q	PSMD3_ENST00000541736.1_Missense_Mutation_p.E81Q	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	219					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCGGGTCTATGAGTTCCTGGA	0.542000													21	96					0	0	1	0	0
SLC39A8	64116	broad.mit.edu	37	4	103189214	103189214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:103189214G>T	ENST00000424970.2	-	7	1178	c.863C>A	c.(862-864)tCa>tAa	p.S288*	SLC39A8_ENST00000356736.4_Nonsense_Mutation_p.S288*|SLC39A8_ENST00000394833.2_Nonsense_Mutation_p.S288*	NM_001135147.1	NP_001128619.1	Q9C0K1	S39A8_HUMAN	solute carrier family 39 (zinc transporter), member 8	288						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACAGGTACATGAACTTGGCTC	0.433000													11	79					3.86212e-05	3.92158e-05	1	1	0
C21orf62	56245	broad.mit.edu	37	21	34166708	34166708	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:34166708G>C	ENST00000536776.1	-	2	165	c.25C>G	c.(25-27)Ctt>Gtt	p.L9V	C21orf62_ENST00000487113.1_Missense_Mutation_p.L9V|C21orf49_ENST00000382377.3_Intron|C21orf49_ENST00000382375.4_Intron|C21orf62_ENST00000479548.1_Missense_Mutation_p.L9V|C21orf49_ENST00000382378.1_Intron|C21orf49_ENST00000453404.1_Intron|C21orf49_ENST00000477513.1_Intron|C21orf62_ENST00000490358.1_Missense_Mutation_p.L9V	NM_001162495.2|NM_001162496.2|NM_019596.5	NP_001155967.2|NP_001155968.2|NP_062542.5	Q9NYP8	CU062_HUMAN	chromosome 21 open reading frame 62	9										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	6		Myeloproliferative disorder(46;0.0255)				ATCAGAAGAAGACAGTGCCTG	0.488000													11	61					0	0	1	0	0
GTF2E1	2960	broad.mit.edu	37	3	120469634	120469634	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:120469634G>C	ENST00000283875.5	+	2	328	c.235G>C	c.(235-237)Gag>Cag	p.E79Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	79	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AATGAGGGTAGAGACTGCTGC	0.403000													14	81					0	0	1	0	0
H2AFY	9555	broad.mit.edu	37	5	134670751	134670751	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:134670751G>T	ENST00000511689.1	-	9	1627	c.1034C>A	c.(1033-1035)tCc>tAc	p.S345Y	H2AFY_ENST00000423969.2_Missense_Mutation_p.S173Y|CTC-349C3.1_ENST00000432382.3_Intron|H2AFY_ENST00000304332.4_Missense_Mutation_p.S344Y|H2AFY_ENST00000510038.1_Missense_Mutation_p.S345Y|H2AFY_ENST00000512507.1_5'UTR|H2AFY_ENST00000312469.4_Missense_Mutation_p.S342Y	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	345	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGTTTTGATGGAAGAGGACAT	0.483000													16	94					2.31682e-05	2.35431e-05	1	1	0
PARP4	143	broad.mit.edu	37	13	25009585	25009585	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:25009585C>T	ENST00000381989.3	-	31	3799	c.3694G>A	c.(3694-3696)Gaa>Aaa	p.E1232K		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1232					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AAACGTAATTCTGGCCACTCA	0.358000													25	94					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33169620	33169620	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:33169620G>C	ENST00000374677.3	+	2	883	c.510G>C	c.(508-510)caG>caC	p.Q170H	SLC39A7_ENST00000374675.3_Missense_Mutation_p.Q170H	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	170						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTCTACTTCAGATCTTGCTCA	0.527000													14	78					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47163962	47163962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:47163962G>A	ENST00000409792.3	-	3	2206	c.2164C>T	c.(2164-2166)Cag>Tag	p.Q722*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	722					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTAATATTCTGAAATCCATTT	0.393000			"""N, F, S, Mis"""		clear cell renal carcinoma								28	127					0	0	1	0	0
SAFB	6294	broad.mit.edu	37	19	5626483	5626483	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:5626483C>G	ENST00000292123.5	+	2	364	c.257C>G	c.(256-258)tCa>tGa	p.S86*	SAFB_ENST00000592224.1_Nonsense_Mutation_p.S86*|SAFB_ENST00000454510.1_Nonsense_Mutation_p.S86*|SAFB_ENST00000538656.1_Missense_Mutation_p.Q20E|SAFB_ENST00000586934.1_3'UTR|SAFB_ENST00000588852.1_Nonsense_Mutation_p.S86*|SAFB_ENST00000433404.1_5'UTR	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	86					chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AAGAAAACATCAAAGAGGTCT	0.368000													11	63					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98563392	98563392	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:98563392G>A	ENST00000359863.4	+	48	7238	c.7029G>A	c.(7027-7029)cgG>cgA	p.R2343R	TRRAP_ENST00000355540.3_Silent_p.R2325R|TRRAP_ENST00000446306.3_Silent_p.R2325R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2343	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGAGATGCGGAAGAACTTCA	0.527000													11	57					0	0	1	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760546	186760546	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:186760546C>T	ENST00000169298.3	+	4	729	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Silent_p.L19L	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	19					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GGTCTTTCTTCTGTTTGCAGT	0.418000													35	167					0	0	1	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38172275	38172275	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:38172275C>T	ENST00000317025.8	-	12	2649	c.2132G>A	c.(2131-2133)gGt>gAt	p.G711D	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.G711D|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.G711D	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	711					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CAGAGAGTCACCAGAGCTTTC	0.458000			T	NUP98	AML								4	50					0	0	1	0	0
ADAM17	6868	broad.mit.edu	37	2	9650239	9650239	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:9650239G>A	ENST00000310823.3	-	11	1395	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	RP11-400L8.2_ENST00000472619.1_RNA|RP11-400L8.2_ENST00000480764.1_RNA	NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	405	Peptidase M12B.				B cell differentiation|cell adhesion mediated by integrin|epidermal growth factor receptor signaling pathway|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|germinal center formation|membrane protein intracellular domain proteolysis|negative regulation of interleukin-8 production|nerve growth factor receptor signaling pathway|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of chemokine production|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of protein phosphorylation|positive regulation of T cell chemotaxis|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of mast cell apoptosis|response to drug|response to high density lipoprotein particle stimulus|response to hypoxia|response to lipopolysaccharide|spleen development|T cell differentiation in thymus|wound healing, spreading of epidermal cells	actin cytoskeleton|apical plasma membrane|cell surface|cytoplasm|integral to plasma membrane|membrane raft	integrin binding|interleukin-6 receptor binding|metalloendopeptidase activity|PDZ domain binding|SH3 domain binding|zinc ion binding			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCAATTCATGAGTTGTAACC	0.448000													18	109					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47274676	47274676	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:47274676C>G	ENST00000396220.1	-	17	1994	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	PREX1_ENST00000371941.3_Missense_Mutation_p.E658Q			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	658	PDZ.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCTCACCTCAGCCAGCGAG	0.647000											OREG0026010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	32	257					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92088162	92088162	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:92088162G>A	ENST00000298047.6	+	1	2901	c.2884G>A	c.(2884-2886)Gat>Aat	p.D962N	FAT3_ENST00000409404.2_Missense_Mutation_p.D962N|FAT3_ENST00000525166.1_Missense_Mutation_p.D812N|FAT3_ENST00000541502.1_Missense_Mutation_p.D962N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	962	Cadherin 9.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGAGACCCATGATCCAGATCT	0.468000										TCGA Ovarian(4;0.039)			11	81					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62069260	62069260	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:62069260G>A	ENST00000404929.1	-	2	430	c.419C>T	c.(418-420)tCc>tTc	p.S140F	FAM161A_ENST00000405894.3_Missense_Mutation_p.S140F	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	140					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGCTTACCTGGAAGAGTCACT	0.313000													26	117					0	0	1	0	0
RAVER1	125950	broad.mit.edu	37	19	10431553	10431553	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:10431553G>C	ENST00000293677.6	-	9	1680	c.1599C>G	c.(1597-1599)ctC>ctG	p.L533L		NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	ribonucleoprotein, PTB-binding 1	533						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TGCTGGCCGGGAGCAGGCTGT	0.692000													5	27					0	0	1	0	0
ESYT2	57488	broad.mit.edu	37	7	158554234	158554234	+	Splice_Site	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:158554234G>C	ENST00000251527.5	-	11	1395	c.1330C>G	c.(1330-1332)Ctt>Gtt	p.L444V		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	472	C2 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TCAATCATAAGACTATAAAAA	0.353000													14	72					0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117789424	117789424	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:117789424G>T	ENST00000528626.1	-	2	224	c.151C>A	c.(151-153)Ccg>Acg	p.P51T	TMPRSS13_ENST00000526090.1_Missense_Mutation_p.P51T|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.P51T|TMPRSS13_ENST00000524993.1_Missense_Mutation_p.P51T|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.P51T	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	51	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCCCGGCCCGGAGGTGTCCCA	0.687000													11	47					1.08611e-07	1.11398e-07	1	1	0
TUBGCP2	10844	broad.mit.edu	37	10	135101807	135101807	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:135101807G>C	ENST00000368563.2	-	11	1904	c.1548C>G	c.(1546-1548)atC>atG	p.I516M	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.I516M|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.I386M|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.I109M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.I544M	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	516					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGTAGCGCTTGATGGACCTGC	0.687000													5	43					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14498739	14498739	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:14498739G>C	ENST00000344204.4	+	53	8346	c.8322G>C	c.(8320-8322)ctG>ctC	p.L2774L	TRIO_ENST00000537187.1_Silent_p.L2598L|TRIO_ENST00000344135.5_Silent_p.L273L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2774	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.L2774L(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGGCCAGCCTGAGGGTCCTAG	0.567000													12	110					0	0	1	0	0
FAM84B	157638	broad.mit.edu	37	8	127569508	127569508	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:127569508C>G	ENST00000304916.3	-	2	582	c.127G>C	c.(127-129)Gag>Cag	p.E43Q	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	43						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TCCACGTCCTCATCGTCATTG	0.697000													7	16					0	0	1	0	0
MATR3	9782	broad.mit.edu	37	5	138655105	138655105	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:138655105C>G	ENST00000394800.2	+	13	2066	c.1517C>G	c.(1516-1518)tCt>tGt	p.S506C	MATR3_ENST00000510056.1_Missense_Mutation_p.S506C|MATR3_ENST00000502499.1_Missense_Mutation_p.S168C|MATR3_ENST00000504203.1_Missense_Mutation_p.S168C|MATR3_ENST00000502929.1_Missense_Mutation_p.S506C|MATR3_ENST00000361059.2_Missense_Mutation_p.S506C|MATR3_ENST00000503811.1_Missense_Mutation_p.S218C|MATR3_ENST00000509990.1_Missense_Mutation_p.S506C|MATR3_ENST00000394805.3_Missense_Mutation_p.S506C			P43243	MATR3_HUMAN	matrin 3	506	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTGCCGCATTCTGGCTATTCT	0.373000													15	75					0	0	1	0	0
PDK1	5163	broad.mit.edu	37	2	173460588	173460588	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:173460588C>T	ENST00000282077.3	+	11	1384	c.1202C>T	c.(1201-1203)cCa>cTa	p.P401L	PDK1_ENST00000410055.1_Missense_Mutation_p.P401L|PDK1_ENST00000543905.1_Missense_Mutation_p.P325L|PDK1_ENST00000392571.2_Missense_Mutation_p.P421L|PDK1_ENST00000544863.1_Missense_Mutation_p.P246L			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1						glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			GAAAGACTCCCAGTGTATAAC	0.433000									Autosomal Dominant Polycystic Kidney Disease				14	117					0	0	1	0	0
PTH1R	5745	broad.mit.edu	37	3	46945099	46945099	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:46945099G>C	ENST00000313049.5	+	14	1938	c.1735G>C	c.(1735-1737)Gag>Cag	p.E579Q	PTH1R_ENST00000418619.1_Missense_Mutation_p.E579Q|PTH1R_ENST00000430002.2_Missense_Mutation_p.E579Q|PTH1R_ENST00000449590.1_Missense_Mutation_p.E579Q			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	579						cytoplasm|integral to plasma membrane|nucleus	parathyroid hormone receptor activity|peptide hormone binding|protein self-association			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2)	19						CTCTGGGCCTGAGCGGCCACC	0.632000													25	135					0	0	1	0	0
SFMBT2	57713	broad.mit.edu	37	10	7327912	7327912	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:7327912G>C	ENST00000361972.4	-	5	531	c.441C>G	c.(439-441)atC>atG	p.I147M	SFMBT2_ENST00000379713.3_Missense_Mutation_p.I147M|SFMBT2_ENST00000397167.1_Missense_Mutation_p.I147M	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	147					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACTTCTCTTTGATTGCTGGCA	0.398000													29	142					0	0	1	0	0
SLC23A1	9963	broad.mit.edu	37	5	138718196	138718196	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:138718196G>A	ENST00000353963.3	-	2	173	c.135C>T	c.(133-135)atC>atT	p.I45I	SLC23A1_ENST00000503919.1_5'UTR|SLC23A1_ENST00000348729.3_Silent_p.I45I	NM_152685.3	NP_689898	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	45					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AGCCCAGCAGGATGCACAGGT	0.632000													8	48					0	0	1	0	0
ECT2L	345930	broad.mit.edu	37	6	139134448	139134448	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:139134448C>G	ENST00000423192.1	+	2	198	c.37C>G	c.(37-39)Cct>Gct	p.P13A	ECT2L_ENST00000367682.2_Missense_Mutation_p.P13A			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	13					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						TGCCTGGACACCTTTTAGCAA	0.388000			"""N, Splice, Mis"""		ETP ALL								14	87					0	0	1	0	0
POLQ	10721	broad.mit.edu	37	3	121215688	121215688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:121215688G>A	ENST00000264233.5	-	14	2373	c.2245C>T	c.(2245-2247)Caa>Taa	p.Q749*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	749					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGCAAAGATTGAATCTGCCCA	0.358000								DNA polymerases (catalytic subunits)					7	87					0	0	1	0	0
SNORD114-1	767577	broad.mit.edu	37	14	101416195	101416195	+	RNA	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:101416195G>A	ENST00000362705.1	+	0	26					NR_003193.1																						GACTGGTGGCGTATGAGTCAT	0.358000													11	47					0	0	1	0	0
NUPL2	11097	broad.mit.edu	37	7	23235486	23235486	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:23235486G>C	ENST00000258742.5	+	4	733	c.474G>C	c.(472-474)ttG>ttC	p.L158F	NUPL2_ENST00000487595.1_3'UTR	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	158	Interaction with HIV-1 Vpr.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGAGGAATTGAGGCTTGAAT	0.328000													11	68					0	0	1	0	0
WAS	7454	broad.mit.edu	37	X	48542302	48542302	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:48542302G>C	ENST00000376701.4	+	1	135	c.60G>C	c.(58-60)caG>caC	p.Q20H	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	20					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CGGTTCAGCAGAACATACCCT	0.627000			"""Mis, N, F, S"""			lymphoma							12	23					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058707	9058707	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:9058707G>C	ENST00000397910.4	-	3	28942	c.28739C>G	c.(28738-28740)tCt>tGt	p.S9580C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9582	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S9580Y(1)|p.S5213Y(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGGTCAGAGATGACATTGA	0.507000													4	47					0	0	1	0	0
WHSC1	7468	broad.mit.edu	37	4	1959760	1959760	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:1959760C>G	ENST00000382895.3	+	18	3413	c.2982C>G	c.(2980-2982)atC>atG	p.I994M	WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000508803.1_Missense_Mutation_p.I994M|WHSC1_ENST00000382888.3_Missense_Mutation_p.I342M|WHSC1_ENST00000382892.2_Missense_Mutation_p.I994M|WHSC1_ENST00000382891.5_Missense_Mutation_p.I994M	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	994					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACAAGCACATCAAGGTGGCGT	0.587000			T	IGH@	MM								46	75					0	0	1	0	0
POLA1	5422	broad.mit.edu	37	X	24833165	24833165	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:24833165G>A	ENST00000379068.3	+	30	3409	c.3366G>A	c.(3364-3366)ctG>ctA	p.L1122L	POLA1_ENST00000379059.3_Silent_p.L1116L			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1116					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AGAAGAGGCTGATAGAAATTG	0.388000													23	40					0	0	1	0	0
C4BPA	722	broad.mit.edu	37	1	207297598	207297598	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:207297598C>G	ENST00000367070.3	+	6	787	c.593C>G	c.(592-594)tCt>tGt	p.S198C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	198	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TACGGCTTTTCTGTCACCTAC	0.493000													26	133					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77666886	77666886	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:77666886G>C	ENST00000461745.1	+	22	4416	c.3516G>C	c.(3514-3516)ttG>ttC	p.L1172F	ROBO2_ENST00000332191.8_Missense_Mutation_p.L1172F|ROBO2_ENST00000487694.3_Missense_Mutation_p.L1188F|ROBO2_ENST00000469233.1_3'UTR	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	1172					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGGATGAGTTGACAAGAGCCT	0.433000													12	58					0	0	1	0	0
GTSE1	51512	broad.mit.edu	37	22	46725347	46725347	+	Silent	SNP	C	C	T	rs61737807	byFrequency	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:46725347C>T	ENST00000454366.1	+	11	2231	c.2019C>T	c.(2017-2019)tgC>tgT	p.C673C		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	654					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.C654C(1)|p.C673C(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TCGACTTCTGCGATACCCCAG	0.507000													27	122					0	0	1	0	0
SLC25A15	10166	broad.mit.edu	37	13	41382650	41382650	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:41382650C>G	ENST00000338625.4	+	6	935	c.699C>G	c.(697-699)atC>atG	p.I233M		NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	233					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	TGGATTGTATCAAATCCAGAA	0.383000													22	133					0	0	1	0	0
TLN1	7094	broad.mit.edu	37	9	35703793	35703793	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:35703793C>T	ENST00000314888.9	-	47	6689	c.6336G>A	c.(6334-6336)tgG>tgA	p.W2112*	TLN1_ENST00000464379.1_5'UTR|TLN1_ENST00000540444.1_Nonsense_Mutation_p.W2006*	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2112					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCTTTAGCTGCCACACAGCAG	0.488000													19	58					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126021218	126021218	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:126021218C>G	ENST00000265896.5	+	5	1726	c.828C>G	c.(826-828)ctC>ctG	p.L276L	SQLE_ENST00000523430.1_Silent_p.L181L	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	276					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TATAGGAACTCCATGCTCCAC	0.373000													3	22					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21532955	21532955	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:21532955C>T	ENST00000313654.9	+	74	9979	c.9738C>T	c.(9736-9738)gtC>gtT	p.V3246V	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Splice_Site_p.V3190V|LAMA3_ENST00000587184.1_Splice_Site_p.V1581V|LAMA3_ENST00000269217.6_Splice_Site_p.V1637V	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	3246	Laminin G-like 5.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTCCCCAGTCACCATAAAAC	0.502000													11	70					0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30437415	30437415	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:30437415G>C	ENST00000286788.4	-	7	842	c.636C>G	c.(634-636)atC>atG	p.I212M	CCT8_ENST00000542732.1_Missense_Mutation_p.I193M|CCT8_ENST00000540844.1_Missense_Mutation_p.I139M|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	212					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AAGAGGAACTGATACCAGAGC	0.383000													11	79					0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93969199	93969199	+	Splice_Site	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:93969199T>A	ENST00000369303.4	-	10	1983		c.e10-2			NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7							integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GAAATTTAACTGTAATGATGT	0.438000													17	73					0	0	1	0	0
ACP5	54	broad.mit.edu	37	19	11687403	11687403	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:11687403C>G	ENST00000592828.1	-	6	792	c.390G>C	c.(388-390)tgG>tgC	p.W130C	ACP5_ENST00000433365.2_Splice_Site_p.W130C|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000412435.2_Splice_Site_p.W130C|ACP5_ENST00000218758.5_Splice_Site_p.W130C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	130					water-soluble vitamin metabolic process	cytosol|integral to membrane|lysosome	acid phosphatase activity|ferric iron binding|ferrous iron binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						TGGGGAAGTTCCTGTGGAGGG	0.557000													6	48					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886952	3886952	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:3886952G>C	ENST00000319331.3	+	2	1388	c.627G>C	c.(625-627)atG>atC	p.M209I	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	209						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTCTGGATATGAACTTCAAAC	0.413000													26	178					0	0	1	0	0
ELTD1	64123	broad.mit.edu	37	1	79392738	79392738	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:79392738C>T	ENST00000370742.3	-	8	979	c.916G>A	c.(916-918)Ggt>Agt	p.G306S		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	306					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGCAAAGGACCAATACTCTTA	0.294000													14	103					0	0	1	0	0
GDAP1	54332	broad.mit.edu	37	8	75274136	75274136	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:75274136G>A	ENST00000220822.7	+	4	582	c.502G>A	c.(502-504)Gag>Aag	p.E168K	GDAP1_ENST00000434412.2_Missense_Mutation_p.E100K|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	168	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			TGGAAACACAGAGTCTGAGCT	0.373000													13	75					0	0	1	0	0
CCR10	2826	broad.mit.edu	37	17	40831733	40831733	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:40831733G>A	ENST00000591765.1	-	2	1646	c.261C>T	c.(259-261)ctC>ctT	p.L87L	CCR10_ENST00000332438.4_Silent_p.L309L			P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	309						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GGAAGGCGTAGAGAACGGGAT	0.721000													5	29					0	0	1	0	0
NEO1	4756	broad.mit.edu	37	15	73470685	73470685	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:73470685C>T	ENST00000339362.5	+	8	1655	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	NEO1_ENST00000560262.1_Missense_Mutation_p.S403L|NEO1_ENST00000261908.6_Missense_Mutation_p.S403L|NEO1_ENST00000558964.1_Missense_Mutation_p.S403L			Q92859	NEO1_HUMAN	neogenin 1	403	Ig-like C2-type 4.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTGGTGAAATCAGATGAAGGG	0.348000													9	63					0	0	1	0	0
HEATR5A	25938	broad.mit.edu	37	14	31790818	31790818	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:31790818C>T	ENST00000543095.2	-	25	4040	c.3856G>A	c.(3856-3858)Gac>Aac	p.D1286N	HEATR5A_ENST00000439727.1_Missense_Mutation_p.D993N|HEATR5A_ENST00000389961.3_Missense_Mutation_p.D1280N|HEATR5A_ENST00000439348.1_Missense_Mutation_p.D1280N	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1280							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGGAGCTGGTCACTGTGATCT	0.413000													10	27					0	0	1	0	0
SELO	83642	broad.mit.edu	37	22	50647058	50647058	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:50647058C>G	ENST00000380903.2	+	3	910	c.852C>G	c.(850-852)ctC>ctG	p.L284L	SELO_ENST00000492092.1_3'UTR|RP3-402G11.28_ENST00000608016.1_RNA	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN															all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGCAGCTGCTCGACTATGTCA	0.577000													14	86					0	0	1	0	0
CHMP5	51510	broad.mit.edu	37	9	33270688	33270688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:33270688C>T	ENST00000419016.2	+	4	329	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	CHMP5_ENST00000223500.8_Nonsense_Mutation_p.Q97*	NM_001195536.1	NP_001182465.1	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5	97					cellular membrane organization|protein transport	cytosol|endosome membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			TTATACCATCCAGTCTTTGAA	0.388000													14	91					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104121065	104121065	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:104121065G>C	ENST00000388887.2	+	47	5076	c.4872G>C	c.(4870-4872)ctG>ctC	p.L1624L		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1624	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGAAAGATCTGGTCGGCCCAG	0.517000													41	230					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230219	140230219	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:140230219C>T	ENST00000378122.3	+	1	2863	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.L713L|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGGTTCTCACGCTGCTGC	0.667000													17	140					0	0	1	0	0
SLC18B1	116843	broad.mit.edu	37	6	133100544	133100544	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:133100544C>G	ENST00000275227.4	-	7	755		c.e7-1		SLC18B1_ENST00000538764.1_Splice_Site|SLC18B1_ENST00000367918.1_Intron	NM_052831.2	NP_439896.1	Q6NT16	CF192_HUMAN	solute carrier family 18, subfamily B, member 1						transmembrane transport	integral to membrane											GGATCAGACTCTTTAGGGAAA	0.348000													10	61					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41384746	41384746	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:41384746C>G	ENST00000301146.4	-	5	1291	c.750G>C	c.(748-750)aaG>aaC	p.K250N	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Missense_Mutation_p.K199N	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	250						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GCTCCACCTTCTTGGCTATGA	0.547000													17	57					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9089500	9089500	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:9089500G>T	ENST00000397910.4	-	1	2518	c.2315C>A	c.(2314-2316)tCc>tAc	p.S772Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	772	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGGTCATGGAGGAAAGAAC	0.502000													32	128					1.36615e-20	1.42446e-20	1	1	0
PTPN21	11099	broad.mit.edu	37	14	88945269	88945269	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:88945269G>C	ENST00000556564.1	-	13	2790	c.2506C>G	c.(2506-2508)Cta>Gta	p.L836V	PTPN21_ENST00000328736.3_Missense_Mutation_p.L836V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	836						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTTACCCCTAGAGGCGGGAGC	0.632000													5	36					0	0	1	0	0
LUZP2	338645	broad.mit.edu	37	11	24927548	24927548	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:24927548G>C	ENST00000533227.1	+	6	437	c.150G>C	c.(148-150)ttG>ttC	p.L50F	LUZP2_ENST00000336930.6_Missense_Mutation_p.L136F	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	136						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATAAAAGCTTGAAAAACAAAC	0.323000													7	57					0	0	1	0	0
C17orf75	64149	broad.mit.edu	37	17	30658809	30658809	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:30658809C>T	ENST00000577809.1	-	10	1213	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	C17orf75_ENST00000225805.4_Missense_Mutation_p.M388I|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	388					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GAGCTTCTTTCATGAATTCTT	0.313000													7	68					0	0	1	0	0
BCLAF1	9774	broad.mit.edu	37	6	136599060	136599060	+	Missense_Mutation	SNP	G	G	C	rs146790565		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:136599060G>C	ENST00000531224.1	-	4	1211	c.959C>G	c.(958-960)tCg>tGg	p.S320W	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S320W|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S318W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S320W|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S318W|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S318W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	320					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGGATAAAACGAGGAACGGCC	0.398000													12	207					0	0	1	0	0
NBPF1	55672	broad.mit.edu	37	1	16895604	16895604	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:16895604C>G	ENST00000430580.2	-	23	3465	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q	NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000420031.2_3'UTR|NBPF1_ENST00000287968.8_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	860	NBPF 4.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGCTGTTCCTCTAATGAGTGA	0.488000													79	1988					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14297232	14297232	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:14297232G>C	ENST00000344204.4	+	7	1252	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	TRIO_ENST00000537187.1_Missense_Mutation_p.E410Q|TRIO_ENST00000509967.2_Missense_Mutation_p.E361Q	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	410					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCGTCTGGTGGAGTCTGGCCA	0.557000													16	69					0	0	1	0	0
DCAF11	80344	broad.mit.edu	37	14	24590581	24590581	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:24590581G>A	ENST00000558325.1	+	1	22	c.22G>A	c.(22-24)Gaa>Aaa	p.E8K	DCAF11_ENST00000396936.1_Silent_p.R318R|DCAF11_ENST00000446197.3_Silent_p.R418R|DCAF11_ENST00000559115.1_Silent_p.R418R|DCAF11_ENST00000396941.4_Silent_p.R392R																							CAGCCTGGCGGAAGCTGAAGC	0.577000													16	83					0	0	1	0	0
UHMK1	127933	broad.mit.edu	37	1	162467847	162467847	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:162467847C>G	ENST00000489294.1	+	1	215	c.57C>G	c.(55-57)ttC>ttG	p.F19L	UHMK1_ENST00000538489.1_Missense_Mutation_p.F19L|UHMK1_ENST00000545294.1_Intron	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	19					cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGAGGCCTTCGGGCGGCTGT	0.726000													10	26					0	0	1	0	0
HDHD3	81932	broad.mit.edu	37	9	116136181	116136181	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:116136181C>T	ENST00000238379.5	-	2	1351	c.454G>A	c.(454-456)Gaa>Aaa	p.E152K	HDHD3_ENST00000374180.3_Missense_Mutation_p.E152K|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	152							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						TCGAAGTGTTCACGCAGGCCA	0.627000													43	176					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5058888	5058888	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:5058888C>A	ENST00000574788.1	+	31	5045	c.2815C>A	c.(2815-2817)Cat>Aat	p.H939N	USP6_ENST00000250066.6_Missense_Mutation_p.H939N|USP6_ENST00000304328.5_Missense_Mutation_p.H622N|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	939					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGCTAGTATTCATGCCCAGGA	0.448000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								14	69					6.31663e-08	6.48376e-08	1	1	0
TEK	7010	broad.mit.edu	37	9	27197399	27197399	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:27197399G>A	ENST00000380036.4	+	12	2153	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	TEK_ENST00000406359.4_Missense_Mutation_p.E528K|TEK_ENST00000519097.1_Missense_Mutation_p.E424K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	571	Fibronectin type-III 2.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCCAAGCTCGGAAGATGACTT	0.428000													21	99					0	0	1	0	0
CCT8	10694	broad.mit.edu	37	21	30437349	30437349	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:30437349G>A	ENST00000286788.4	-	7	908	c.702C>T	c.(700-702)gtC>gtT	p.V234V	CCT8_ENST00000542732.1_Silent_p.V215V|CCT8_ENST00000540844.1_Silent_p.V161V|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	234					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						TTGCATCTTTGACAGATGTTA	0.378000													15	108					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55043460	55043460	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:55043460G>A	ENST00000474759.1	+	34	2913	c.2865G>A	c.(2863-2865)atG>atA	p.M955I	CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.M955I|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.M955I|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.M861I	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	955						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		ACTCCGATATGACAGCTAAAG	0.493000													7	43					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293287	62293287	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:62293287C>G	ENST00000378024.4	-	5	8876	c.8602G>C	c.(8602-8604)Gaa>Caa	p.E2868Q	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2868					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCAACTTCAGGACCTTTC	0.463000													49	267					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94528806	94528806	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:94528806C>T	ENST00000330836.5	-	3	1011	c.880G>A	c.(880-882)Gag>Aag	p.E294K	DDX24_ENST00000544005.1_Missense_Mutation_p.E44K|DDX24_ENST00000555054.1_Missense_Mutation_p.E251K	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	294	Helicase ATP-binding.				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)		GCATCAGACTCAGCTTCAGCC	0.552000													16	75					0	0	1	0	0
ITIH5	80760	broad.mit.edu	37	10	7621728	7621728	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:7621728G>A	ENST00000256861.6	-	9	1486	c.1408C>T	c.(1408-1410)Cag>Tag	p.Q470*	ITIH5_ENST00000298441.6_Nonsense_Mutation_p.Q256*|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397145.2_Nonsense_Mutation_p.Q470*|ITIH5_ENST00000397146.2_Nonsense_Mutation_p.Q470*|ITIH5_ENST00000446830.2_Nonsense_Mutation_p.Q252*	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	470	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCGATGAGCTGCGAGCCTGCG	0.612000													11	66					0	0	1	0	0
SEMA4A	64218	broad.mit.edu	37	1	156146639	156146639	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:156146639C>T	ENST00000368285.3	+	15	2404	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W	SEMA4A_ENST00000368286.2_Missense_Mutation_p.R581W|SEMA4A_ENST00000355014.2_Missense_Mutation_p.R713W|SEMA4A_ENST00000368284.1_Missense_Mutation_p.R581W|SEMA4A_ENST00000368282.1_Missense_Mutation_p.R713W	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	713			R -> Q (in RP35; also in a patient with congenital blindness; dbSNP:rs41265017).		axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					ACTCCGGGCTCGGGGCAAGGT	0.602000													18	78					0	0	1	0	0
BIN1	274	broad.mit.edu	37	2	127834214	127834214	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:127834214G>C	ENST00000316724.5	-	2	564	c.153C>G	c.(151-153)ttC>ttG	p.F51L	BIN1_ENST00000393040.3_Missense_Mutation_p.F51L|BIN1_ENST00000376113.2_Missense_Mutation_p.F51L|BIN1_ENST00000409400.1_Missense_Mutation_p.F51L|BIN1_ENST00000346226.3_Missense_Mutation_p.F51L|BIN1_ENST00000348750.4_Missense_Mutation_p.F51L|BIN1_ENST00000352848.3_Missense_Mutation_p.F51L|BIN1_ENST00000393041.3_Missense_Mutation_p.F51L|BIN1_ENST00000259238.4_Missense_Mutation_p.F51L|BIN1_ENST00000357970.3_Missense_Mutation_p.F51L|BIN1_ENST00000351659.3_Missense_Mutation_p.F51L	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	51	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCTGCTTGTTGAAATTCTGGA	0.527000													26	114					0	0	1	0	0
PPP1R17	10842	broad.mit.edu	37	7	31735120	31735120	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:31735120C>G	ENST00000342032.3	+	3	748	c.120C>G	c.(118-120)ctC>ctG	p.L40L	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	40					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											ACTGTGATCTCAAAAAGAAGC	0.388000													7	145					0	0	1	0	0
TLR3	7098	broad.mit.edu	37	4	187004198	187004198	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:187004198G>A	ENST00000296795.3	+	4	1462	c.1358G>A	c.(1357-1359)aGa>aAa	p.R453K	TLR3_ENST00000504367.1_Missense_Mutation_p.R176K	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						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)		CAGGAATGGAGAGGTCTAGAA	0.448000													10	63					0	0	1	0	0
ZNF696	79943	broad.mit.edu	37	8	144378883	144378883	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:144378883G>A	ENST00000330143.3	+	3	1447	c.1038G>A	c.(1036-1038)gaG>gaA	p.E346E		NM_030895.2	NP_112157.2	Q9H7X3	ZN696_HUMAN	zinc finger protein 696	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			ACACGGGCGAGAAGCCGTTCC	0.731000													3	9					0	0	1	0	0
ITGB3	3690	broad.mit.edu	37	17	45369745	45369745	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:45369745G>A	ENST00000559488.1	+	10	1517	c.1501G>A	c.(1501-1503)Gag>Aag	p.E501K	ITGB3_ENST00000435993.2_Missense_Mutation_p.E454K|ITGB3_ENST00000560629.1_Missense_Mutation_p.R489K	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	501	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TGAGTGCTCAGAGGAGGACTA	0.612000													17	80					0	0	1	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4967173	4967173	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrY:4967173G>A	ENST00000333703.4	+	5	2034	c.1521G>A	c.(1519-1521)atG>atA	p.M507I	PCDH11Y_ENST00000362095.5_Missense_Mutation_p.M518I|PCDH11Y_ENST00000215473.6_Missense_Mutation_p.M518I	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	518	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCCAGTTGATGAAAGTAAGTG	0.453000													16	42					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41186270	41186270	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:41186270C>G	ENST00000263413.3	-	6	892	c.628G>C	c.(628-630)Gat>Cat	p.D210H	C6_ENST00000337836.5_Missense_Mutation_p.D210H|C6_ENST00000475349.1_Intron	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	210	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				AAAGAGTTATCAAGGACTTCT	0.393000													4	65					0	0	1	0	0
MTM1	4534	broad.mit.edu	37	X	149783103	149783103	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:149783103G>A	ENST00000370396.2	+	5	327	c.273G>A	c.(271-273)tcG>tcA	p.S91S	MTM1_ENST00000306167.7_Intron|MTM1_ENST00000543350.1_Intron|MTM1_ENST00000542741.1_5'UTR|MTM1_ENST00000413012.2_Intron	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	91	GRAM.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGATCTCGAGAATTGAAA	0.343000													7	24					0	0	1	0	0
NUP37	79023	broad.mit.edu	37	12	102506004	102506004	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:102506004C>G	ENST00000552283.1	-	3	302	c.163G>C	c.(163-165)Gaa>Caa	p.E55Q	NUP37_ENST00000251074.1_Missense_Mutation_p.E55Q|NUP37_ENST00000543021.1_5'UTR			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	55					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						ACGTCTGCTTCTTCTTCCTAA	0.353000													12	55					0	0	1	0	0
LTBP4	8425	broad.mit.edu	37	19	41135318	41135318	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:41135318G>A	ENST00000308370.7	+	34	4735	c.4735G>A	c.(4735-4737)Gag>Aag	p.E1579K	LTBP4_ENST00000545697.1_3'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.E1542K|LTBP4_ENST00000396819.3_Missense_Mutation_p.E1512K|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000243562.9_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1580	EGF-like 16.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAGTGTGATGAGGCCGAGGC	0.637000													16	89					0	0	1	0	0
CTCF	10664	broad.mit.edu	37	16	67654637	67654637	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:67654637G>C	ENST00000264010.4	+	6	1568	c.1124G>C	c.(1123-1125)gGa>gCa	p.G375A	CTCF_ENST00000401394.1_Missense_Mutation_p.G47A	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	375					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TCTCATACTGGAGAGCGTCCG	0.443000													37	63					0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179300157	179300157	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:179300157C>G	ENST00000356834.3	-	13	2315	c.2278G>C	c.(2278-2280)Gag>Cag	p.E760Q	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.E760Q	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	760						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTCCACCTCTGCAGGGGGG	0.582000													7	38					0	0	1	0	0
MS4A13	503497	broad.mit.edu	37	11	60310034	60310034	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:60310034G>C	ENST00000378186.2	+	7	768	c.445G>C	c.(445-447)Gag>Cag	p.E149Q	MS4A13_ENST00000378185.2_Missense_Mutation_p.E109Q|MS4A13_ENST00000527948.1_Missense_Mutation_p.E58Q|MS4A13_ENST00000437058.2_Missense_Mutation_p.E90Q	NM_001012417.2	NP_001012417.2	Q5J8X5	M4A13_HUMAN	membrane-spanning 4-domains, subfamily A, member 13	149						integral to membrane				endometrium(3)|large_intestine(1)|lung(2)|skin(2)	8						TGAGGAAGCTGAGAGCACTCC	0.348000													4	49					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16952908	16952908	+	RNA	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:16952908C>G	ENST00000412962.1	-	0	708																											TGAGGGCGCTCAGCTTGGACA	0.642000													4	123					0	0	1	0	0
GTF3C3	9330	broad.mit.edu	37	2	197643678	197643678	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:197643678G>A	ENST00000263956.3	-	10	1421	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L		NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	444						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CAAGAGCACTGAGGAGGGGAA	0.408000													7	65					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117235110	117235110	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:117235110G>C	ENST00000003084.6	+	15	2749	c.2617G>C	c.(2617-2619)Gag>Cag	p.E873Q	CFTR_ENST00000454343.1_Missense_Mutation_p.E812Q	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	873	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTTTCTGGCAGAGGTAAGAAT	0.313000									Cystic Fibrosis				7	37					0	0	1	0	0
IGF2R	3482	broad.mit.edu	37	6	160467653	160467653	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:160467653C>G	ENST00000356956.1	+	15	2175	c.2027C>G	c.(2026-2028)tCa>tGa	p.S676*		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	676					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CAGCCAGACTCAGGAGCCTGC	0.413000													15	66					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33236338	33236338	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:33236338C>T	ENST00000445902.2	-	7	855	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	VPS52_ENST00000436044.2_Missense_Mutation_p.E88K|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	213					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CCTCTAGCTTCCTGCTCTCTG	0.602000													10	60					0	0	1	0	0
COLGALT2	23127	broad.mit.edu	37	1	183920164	183920164	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:183920164C>G	ENST00000361927.4	-	8	1484	c.1113G>C	c.(1111-1113)aaG>aaC	p.K371N	COLGALT2_ENST00000367520.3_Missense_Mutation_p.K108N|COLGALT2_ENST00000546159.1_Missense_Mutation_p.K371N	NM_015101.2	NP_055916.1			collagen beta(1-O)galactosyltransferase 2																		CCTCGACAATCTTGACCTCAA	0.473000													50	270					0	0	1	0	0
SRGAP1	57522	broad.mit.edu	37	12	64536403	64536403	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:64536403G>T	ENST00000355086.3	+	22	3733	c.3209G>T	c.(3208-3210)gGa>gTa	p.G1070V	SRGAP1_ENST00000357825.3_Missense_Mutation_p.G1047V|SRGAP1_ENST00000543397.1_Missense_Mutation_p.G1007V	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	1070					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CCTACCATAGGACCTGCCCCA	0.498000													8	80					5.18039e-06	5.28865e-06	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64587684	64587684	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:64587684C>G	ENST00000357395.3	+	69	13362	c.2218C>G	c.(2218-2220)Caa>Gaa	p.Q740E	SYNE2_ENST00000554584.1_Missense_Mutation_p.Q4370E|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q4355E|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q989E|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q4355E|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q740E|SYNE2_ENST00000553455.1_Missense_Mutation_p.Q74E			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4355					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCCAGAGCATCAAGAAGCTCT	0.373000													26	86					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126372224	126372224	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:126372224G>A	ENST00000394329.3	+	9	10066	c.10053G>A	c.(10051-10053)aaG>aaA	p.K3351K	FAT4_ENST00000335110.5_Silent_p.K1649K	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3351	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.K3351K(2)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCAATAAGAAGACTGGACAGA	0.418000													23	103					0	0	1	0	0
INPP5D	3635	broad.mit.edu	37	2	234106777	234106777	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:234106777C>T	ENST00000359570.5	+	27	2694	c.2694C>T	c.(2692-2694)atC>atT	p.I898I	INPP5D_ENST00000450745.1_Silent_p.I662I|INPP5D_ENST00000455936.2_Silent_p.I662I			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	910					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCACTGAAATCATCAACCCCA	0.627000													6	28					0	0	1	0	0
RPL12P38	645688	broad.mit.edu	37	17	58511134	58511134	+	RNA	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:58511134C>A	ENST00000588627.1	-	0	2223																											TCTATGATGTCATGAGGGTGG	0.448000													10	58					2.17888e-05	2.21584e-05	1	1	0
DTX4	23220	broad.mit.edu	37	11	58956681	58956681	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:58956681C>T	ENST00000227451.3	+	4	1148	c.1044C>T	c.(1042-1044)ctC>ctT	p.L348L	DTX4_ENST00000531902.1_3'UTR|DTX4_ENST00000532982.1_Silent_p.L242L	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	348					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CTGTGTGTCTCACCAGGCCAC	0.552000													6	26					0	0	1	0	0
ANGPT2	285	broad.mit.edu	37	8	6377388	6377388	+	Missense_Mutation	SNP	G	G	C	rs149555402	by1000genomes	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:6377388G>C	ENST00000325203.5	-	5	1401	c.927C>G	c.(925-927)atC>atG	p.I309M	ANGPT2_ENST00000523120.1_Missense_Mutation_p.I308M|ANGPT2_ENST00000338312.6_Missense_Mutation_p.I257M|MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Missense_Mutation_p.I308M			O15123	ANGP2_HUMAN	angiopoietin 2	309	Fibrinogen C-terminal.				angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis|Tie receptor signaling pathway	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		ACCTCACCTTGATCTCTTCTG	0.458000													25	164					0	0	1	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1718005	1718005	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:1718005C>T	ENST00000397412.3	+	18	3244	c.3145C>T	c.(3145-3147)Ctc>Ttc	p.L1049F	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.L427F|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.L1046F|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.L1049F			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1049						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CAAGGCCCCTCTCCAGAATGG	0.577000													8	27					0	0	1	0	0
RCN1	5954	broad.mit.edu	37	11	32118817	32118817	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:32118817G>A	ENST00000054950.3	+	2	675	c.382G>A	c.(382-384)Gat>Aat	p.D128N	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Missense_Mutation_p.D77N	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	128	EF-hand 2.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					GAAGGATTATGATAGGGACAA	0.453000													6	37					0	0	1	0	0
VASP	7408	broad.mit.edu	37	19	46026926	46026926	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:46026926G>A	ENST00000245932.6	+	8	1202	c.846G>A	c.(844-846)gaG>gaA	p.E282E		NM_003370.3	NP_003361.1	P50552	VASP_HUMAN	vasodilator-stimulated phosphoprotein	282	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		AAGTTGGGGAGAAAACCCCCA	0.512000											OREG0025556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	26					0	0	1	0	0
ZBTB40	9923	broad.mit.edu	37	1	22816672	22816672	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:22816672G>A	ENST00000404138.1	+	3	742	c.231G>A	c.(229-231)atG>atA	p.M77I	ZBTB40_ENST00000375647.4_Missense_Mutation_p.M77I|ZBTB40_ENST00000374651.4_Missense_Mutation_p.M77I	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	77	BTB.				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTTGGAAATGATGTACACGG	0.483000													15	72					0	0	1	0	0
USP6	9098	broad.mit.edu	37	17	5074102	5074102	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:5074102C>T	ENST00000574788.1	+	36	6076	c.3846C>T	c.(3844-3846)ggC>ggT	p.G1282G	USP6_ENST00000250066.6_Silent_p.G1282G|USP6_ENST00000304328.5_Silent_p.G965G|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1282					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.G1282G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATGGCTGTGGCGATGGCTACA	0.483000			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts								20	109					0	0	1	0	0
PRMT2	3275	broad.mit.edu	37	21	48068369	48068369	+	Splice_Site	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:48068369G>A	ENST00000397637.1	+	5	1281		c.e5-1		PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000458387.2_Splice_Site|PRMT2_ENST00000291705.6_Splice_Site|PRMT2_ENST00000451211.2_Splice_Site|PRMT2_ENST00000355680.3_Splice_Site|PRMT2_ENST00000397638.2_Splice_Site|PRMT2_ENST00000397628.1_Splice_Site|PRMT2_ENST00000334494.4_Splice_Site|PRMT2_ENST00000440086.1_Splice_Site			P55345	ANM2_HUMAN	protein arginine methyltransferase 2						developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity	p.?(2)		NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		ATTTCTTCCAGAAACTCCACT	0.502000													7	45					0	0	1	0	0
ZNF750	79755	broad.mit.edu	37	17	80789280	80789280	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:80789280C>G	ENST00000269394.3	-	2	1884	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	ZNF750_ENST00000572562.1_5'UTR|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	351						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTGGCTTCTTCAAGCAGGTGA	0.532000													21	154					0	0	1	0	0
CHEK1	1111	broad.mit.edu	37	11	125513755	125513755	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:125513755C>G	ENST00000534070.1	+	9	1138	c.883C>G	c.(883-885)Caa>Gaa	p.Q295E	CHEK1_ENST00000278916.3_Missense_Mutation_p.Q295E|CHEK1_ENST00000544373.1_Missense_Mutation_p.Q295E|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000428830.2_Missense_Mutation_p.Q295E|CHEK1_ENST00000438015.1_Missense_Mutation_p.Q295E|CHEK1_ENST00000427383.2_Missense_Mutation_p.Q311E|CHEK1_ENST00000524737.1_Missense_Mutation_p.Q295E	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	295					cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TAAGCACATTCAATCCAATTT	0.383000								Other conserved DNA damage response genes					17	65					0	0	1	0	0
ALPK2	115701	broad.mit.edu	37	18	56203547	56203547	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:56203547G>C	ENST00000361673.3	-	5	4085	c.3872C>G	c.(3871-3873)tCt>tGt	p.S1291C	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1291							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGCTATTTCAGAGGGGGCCAA	0.512000													21	125					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147090749	147090749	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:147090749C>T	ENST00000234739.3	+	8	1528	c.788C>T	c.(787-789)cCa>cTa	p.P263L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	263	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATTCCGGCACCAGCACCCAAG	0.597000			T	"""IGH@, IGL@"""	B-ALL								18	87					0	0	1	0	0
LRRC66	339977	broad.mit.edu	37	4	52861337	52861337	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:52861337C>G	ENST00000343457.3	-	4	1857	c.1851G>C	c.(1849-1851)caG>caC	p.Q617H		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	617						integral to membrane		p.Q617H(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AAAATTCCATCTGCGAGTCCC	0.493000													18	61					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9497616	9497616	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:9497616G>A	ENST00000352665.5	+	4	583	c.514G>A	c.(514-516)Gag>Aag	p.E172K	WDR16_ENST00000299764.5_Missense_Mutation_p.E182K|WDR16_ENST00000576499.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.E104K	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	172						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GTGCCGGGATGAGATGTTTAT	0.478000													29	151					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049520	36049520	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:36049520C>G	ENST00000282507.3	-	4	415	c.314G>C	c.(313-315)gGa>gCa	p.G105A	UGT3A2_ENST00000513300.1_Missense_Mutation_p.G71A|UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	105						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCAAATTTTCCTCTGTAAGA	0.284000													7	62					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70949010	70949010	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:70949010G>A	ENST00000334414.6	-	20	5117	c.5073C>T	c.(5071-5073)gtC>gtT	p.V1691V	PTPRB_ENST00000538708.1_Silent_p.V1383V|PTPRB_ENST00000550358.1_Silent_p.V1603V|PTPRB_ENST00000451516.2_Silent_p.V1383V|PTPRB_ENST00000550857.1_Silent_p.V1383V|PTPRB_ENST00000261266.5_Silent_p.V1473V	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1473					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGCTGCAGTTGACAGTAAAGT	0.483000													11	59					0	0	1	0	0
RYR3	6263	broad.mit.edu	37	15	33939638	33939638	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:33939638G>A	ENST00000389232.4	+	30	4025	c.3955G>A	c.(3955-3957)Gaa>Aaa	p.E1319K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1319K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1319	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACAGATGCAAGAAATACTCTC	0.373000													11	42					0	0	1	0	0
NOMO2	283820	broad.mit.edu	37	16	18544483	18544483	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:18544483C>G	ENST00000330537.6	-	12	1409	c.1239G>C	c.(1237-1239)cgG>cgC	p.R413R	NOMO2_ENST00000543392.1_Silent_p.R246R|NOMO2_ENST00000381474.3_Silent_p.R413R	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	413						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TGATTGATATCCGACCACAGA	0.453000													34	314					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31024778	31024778	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:31024778C>T	ENST00000375687.4	+	13	4687	c.4263C>T	c.(4261-4263)ctC>ctT	p.L1421L	ASXL1_ENST00000306058.5_Silent_p.L1416L	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1421					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAAGGGGCTCAGTGAGCCTC	0.537000			"""F, N, Mis"""		"""MDS, CMML"""								21	123					0	0	1	0	0
F10	2159	broad.mit.edu	37	13	113798338	113798338	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:113798338G>A	ENST00000375559.3	+	6	714	c.676G>A	c.(676-678)Gag>Aag	p.E226K	F10_ENST00000375551.3_Missense_Mutation_p.E226K|F10_ENST00000409306.1_Missense_Mutation_p.E226K	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	226					blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	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;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACGCAGCCTGAGAGGGGCGA	0.617000													12	62					0	0	1	0	0
FAM199X	139231	broad.mit.edu	37	X	103411590	103411590	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:103411590G>C	ENST00000493442.1	+	1	290	c.124G>C	c.(124-126)Gac>Cac	p.D42H		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	42										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						GGGCTGCCTGGACATCAGCGA	0.662000													5	12					0	0	1	0	0
EDEM1	9695	broad.mit.edu	37	3	5236909	5236909	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:5236909C>G	ENST00000256497.4	+	2	658	c.525C>G	c.(523-525)atC>atG	p.I175M	EDEM1_ENST00000445686.1_5'UTR	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	175					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		ATCTGAACATCAATGATGTAC	0.279000													12	59					0	0	1	0	0
TDRKH	11022	broad.mit.edu	37	1	151752451	151752451	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:151752451G>A	ENST00000368822.1	-	4	1030	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	TDRKH_ENST00000440583.2_Intron|TDRKH_ENST00000368823.1_Nonsense_Mutation_p.Q129*|TDRKH_ENST00000368824.3_Nonsense_Mutation_p.Q133*|TDRKH_ENST00000368825.3_Intron|TDRKH_ENST00000368827.6_Nonsense_Mutation_p.Q133*|TDRKH_ENST00000484421.1_Intron|TDRKH_ENST00000458431.2_Nonsense_Mutation_p.Q133*			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	133	KH 2.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			ACAGATCTCTGGGGAACTGAA	0.478000													14	95					0	0	1	0	0
MTA2	9219	broad.mit.edu	37	11	62364862	62364862	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:62364862G>C	ENST00000278823.2	-	8	1008	c.619C>G	c.(619-621)Cta>Gta	p.L207V	MTA2_ENST00000524902.1_Missense_Mutation_p.L34V|MTA2_ENST00000527204.1_Missense_Mutation_p.L34V	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	207	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CTACAATCTAGGGCTCTTGCA	0.502000													8	35					0	0	1	0	0
MYH9	4627	broad.mit.edu	37	22	36700117	36700117	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:36700117C>T	ENST00000216181.5	-	19	2544	c.2314G>A	c.(2314-2316)Gag>Aag	p.E772K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	772	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CGCTCCTCCTCCAGGTGGGCC	0.597000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				13	42					0	0	1	0	0
DDX46	9879	broad.mit.edu	37	5	134147527	134147527	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:134147527G>A	ENST00000452510.2	+	18	2586	c.2428G>A	c.(2428-2430)Gca>Aca	p.A810T	DDX46_ENST00000354283.4_Missense_Mutation_p.A810T	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	810					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAGGATGCTGCAGTTGATGT	0.363000													14	64					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:88365898T>G	ENST00000518476.1	+	10	1238	c.1187T>G	c.(1186-1188)cTt>cGt	p.L396R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396								p.L396R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATGGGGAAACTTAAGGAGAAG	0.323000													14	50					0	0	1	0	0
MPHOSPH8	54737	broad.mit.edu	37	13	20221255	20221255	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:20221255G>C	ENST00000361479.5	+	3	1110	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E348Q	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	348					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CAGGAAGCTAGAGAACAAGAA	0.473000													5	50					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210595046	210595046	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:210595046C>T	ENST00000360351.4	+	15	5915	c.5409C>T	c.(5407-5409)atC>atT	p.I1803I	MAP2_ENST00000447185.1_Silent_p.I1799I|MAP2_ENST00000392194.1_Silent_p.I447I|MAP2_ENST00000361559.4_Silent_p.I447I|MAP2_ENST00000199940.6_Silent_p.I535I	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1803					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CTGGAAGCATCAACCTGCTCG	0.527000													5	53					0	0	1	0	0
RTN3	10313	broad.mit.edu	37	11	63487722	63487722	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:63487722C>T	ENST00000377819.5	+	3	1902	c.1748C>T	c.(1747-1749)tCa>tTa	p.S583L	RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.S471L|RTN3_ENST00000339997.4_Missense_Mutation_p.S564L|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	583					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GCAGCATGTTCAAAAGTACCC	0.423000													18	95					0	0	1	0	0
NEU4	129807	broad.mit.edu	37	2	242755694	242755694	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:242755694C>T	ENST00000391969.2	+	3	724	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	NEU4_ENST00000407683.1_Missense_Mutation_p.R5C|NEU4_ENST00000404257.1_Missense_Mutation_p.R17C|NEU4_ENST00000405370.1_Missense_Mutation_p.R5C|NEU4_ENST00000325935.6_Missense_Mutation_p.R18C	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	5						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGGGGTCCCTCGTACCCCTTC	0.701000													4	23					0	0	1	0	0
ATL2	64225	broad.mit.edu	37	2	38536543	38536543	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:38536543C>G	ENST00000378954.4	-	9	1050	c.1049G>C	c.(1048-1050)aGa>aCa	p.R350T	ATL2_ENST00000419554.2_Missense_Mutation_p.R350T|ATL2_ENST00000332337.4_Missense_Mutation_p.R332T|ATL2_ENST00000402054.1_Missense_Mutation_p.R179T|ATL2_ENST00000452935.2_Missense_Mutation_p.R332T|ATL2_ENST00000546051.1_Missense_Mutation_p.R179T|ATL2_ENST00000539122.1_Missense_Mutation_p.R179T|ATL2_ENST00000406122.1_Missense_Mutation_p.R179T	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	350					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	p.R350K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TACAAGATCTCTACAAGTGAC	0.338000													14	65					0	0	1	0	0
REXO1	57455	broad.mit.edu	37	19	1825898	1825898	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:1825898C>G	ENST00000170168.4	-	3	2050	c.1956G>C	c.(1954-1956)ctG>ctC	p.L652L		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	652						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGAGTGGTCAGACCCGAAA	0.592000													6	51					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883636	228883636	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:228883636C>T	ENST00000392056.3	-	7	1980	c.1934G>A	c.(1933-1935)aGg>aAg	p.R645K	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R645K	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	645						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CATGATTCTCCTGTTCATGGA	0.473000													20	108					0	0	1	0	0
GFM2	84340	broad.mit.edu	37	5	74026190	74026190	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:74026190C>G	ENST00000296805.3	-	17	2078	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	GFM2_ENST00000509430.1_Missense_Mutation_p.E541Q|GFM2_ENST00000345239.2_Missense_Mutation_p.E494Q|GFM2_ENST00000515125.1_Intron	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	541					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TGAATAATCTCTATATGTAAC	0.398000													11	62					0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35846974	35846974	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:35846974C>T	ENST00000377988.2	+	10	2089	c.801C>T	c.(799-801)ttC>ttT	p.F267F	TMEM8B_ENST00000377991.4_Silent_p.F267F|TMEM8B_ENST00000439587.2_Silent_p.F267F|TMEM8B_ENST00000377996.1_Silent_p.F267F	NM_001042590.2	NP_001036055.1	A6NDV4	TMM8B_HUMAN	transmembrane protein 8B	267					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						TCTACACCTTCACCATGTTCT	0.542000													7	91					0	0	1	0	0
EVA1C	59271	broad.mit.edu	37	21	33867394	33867394	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:33867394G>C	ENST00000300255.2	+	5	1165	c.692G>C	c.(691-693)aGa>aCa	p.R231T	EVA1C_ENST00000401402.3_Intron|EVA1C_ENST00000382699.3_Missense_Mutation_p.R231T	NM_058187.3	NP_478067.2			eva-1 homolog C (C. elegans)																		GGGAAGCAGAGATGCAAAATC	0.478000													12	73					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46724415	46724415	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:46724415C>G	ENST00000371975.4	+	4	942	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E	RAD54L_ENST00000442598.1_Missense_Mutation_p.Q90E	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	90					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TCCAAATTATCAAGGTAAAAT	0.353000								Direct reversal of damage;Homologous recombination					6	74					0	0	1	0	0
RNF19A	25897	broad.mit.edu	37	8	101270861	101270861	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:101270861C>T	ENST00000519449.1	-	11	2756	c.2440G>A	c.(2440-2442)Gat>Aat	p.D814N	RNF19A_ENST00000341084.2_Missense_Mutation_p.D814N	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	814	Interaction with CASR.				microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TTTAGTGCATCGCCAAAATAT	0.338000													22	91					0	0	1	0	0
TRMT1L	81627	broad.mit.edu	37	1	185112563	185112563	+	Missense_Mutation	SNP	A	A	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:185112563A>G	ENST00000367504.3	-	7	1056	c.317T>C	c.(316-318)cTa>cCa	p.L106P	TRMT1L_ENST00000367506.5_Missense_Mutation_p.L262P			Q7Z2T5	TRM1L_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)-like	262						intracellular	RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACAGAATATTAGCTGCCTAGA	0.378000													4	170					0	0	1	0	0
IGHV3-73	28409	broad.mit.edu	37	14	107211012	107211012	+	RNA	SNP	T	T	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:107211012T>G	ENST00000390636.2	-	0	356																											GAATCATCTCTGGAGATGGTG	0.512000													7	169					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24462941	24462941	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:24462941G>C	ENST00000398319.2	+	16	2426	c.2041G>C	c.(2041-2043)Gat>Cat	p.D681H	CABIN1_ENST00000263119.5_Missense_Mutation_p.D681H|CABIN1_ENST00000405822.2_Missense_Mutation_p.D631H	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	681					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTTTCAGATTGATAAGAACCT	0.542000													4	53					0	0	1	0	0
PARVG	64098	broad.mit.edu	37	22	44592250	44592250	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:44592250G>C	ENST00000444313.3	+	11	1150	c.666G>C	c.(664-666)caG>caC	p.Q222H	PARVG_ENST00000422871.1_Missense_Mutation_p.Q222H|PARVG_ENST00000415224.1_Missense_Mutation_p.Q222H	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 2.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TTGTCAACCAGAAGCTGGACC	0.617000													10	75					0	0	1	0	0
PSEN1	5663	broad.mit.edu	37	14	73637515	73637515	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:73637515G>C	ENST00000324501.5	+	4	370	c.98G>C	c.(97-99)aGa>aCa	p.R33T	PSEN1_ENST00000406768.1_5'UTR|PSEN1_ENST00000261970.3_Missense_Mutation_p.R33T|PSEN1_ENST00000553447.2_3'UTR|PSEN1_ENST00000394164.1_Missense_Mutation_p.R29T|PSEN1_ENST00000344094.3_Missense_Mutation_p.R33T|PSEN1_ENST00000394157.3_Missense_Mutation_p.R33T|PSEN1_ENST00000357710.4_Missense_Mutation_p.R29T|PSEN1_ENST00000557511.1_Missense_Mutation_p.R33T	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	33					amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		AATGACAATAGAGAACGGCAG	0.483000													9	37					0	0	1	0	0
RBP2	5948	broad.mit.edu	37	3	139172008	139172008	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:139172008C>G	ENST00000232217.2	-	4	411	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	RP11-319G6.1_ENST00000515247.1_RNA	NM_004164.2	NP_004155.2	P50120	RET2_HUMAN	retinol binding protein 2, cellular	119					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CAGGTCAGCTCCTGCAACGTC	0.572000													8	60					0	0	1	0	0
PPIH	10465	broad.mit.edu	37	1	43132256	43132256	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:43132256G>C	ENST00000455203.2	+	6	762	c.334G>C	c.(334-336)Gag>Cag	p.E112Q	PPIH_ENST00000304979.3_Missense_Mutation_p.E155Q|PPIH_ENST00000372550.1_Missense_Mutation_p.E112Q			O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)	155	PPIase cyclophilin-type.				protein complex assembly|protein folding	cytoplasm|nuclear speck|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|protein binding|ribonucleoprotein binding			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	GAGAAAGATTGAGGTAAGTAC	0.428000													9	80					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658353	72658353	+	RNA	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:72658353C>G	ENST00000425256.1	-	0	1558																											aggctcttctcaacacgcgaa	0.502000													11	65					0	0	1	0	0
ZNF22	7570	broad.mit.edu	37	10	45499194	45499194	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:45499194C>T	ENST00000298299.3	+	2	971	c.378C>T	c.(376-378)ctC>ctT	p.L126L	CEP164P1_ENST00000456938.2_RNA	NM_006963.4	NP_008894.2	P17026	ZNF22_HUMAN	zinc finger protein 22	126					odontogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|plasma membrane	DNA binding|zinc ion binding	p.L126L(1)		NS(1)|breast(2)|endometrium(1)|kidney(2)|lung(2)	8		Prostate(175;0.0352)|all_neural(218;0.202)				GCTCAAATCTCATTCAGCACC	0.453000													9	75					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99580592	99580592	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:99580592G>C	ENST00000481138.1	-	6	2374	c.1713C>G	c.(1711-1713)ttC>ttG	p.F571L	ZNF782_ENST00000535338.1_Missense_Mutation_p.F439L	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				ATTTCTGACTGAAAGCTTCCC	0.408000													36	205					0	0	1	0	0
TNIP3	79931	broad.mit.edu	37	4	122078329	122078329	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:122078329G>A	ENST00000454328.1	-	6	510	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	TNIP3_ENST00000057513.3_Nonsense_Mutation_p.Q95*|TNIP3_ENST00000507879.1_Nonsense_Mutation_p.Q165*|TNIP3_ENST00000509841.1_Nonsense_Mutation_p.Q172*			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	95										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTCTGCCTCTGATGCGGATCC	0.637000													54	326					0	0	1	0	0
TBCEL	219899	broad.mit.edu	37	11	120957546	120957546	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:120957546G>C	ENST00000422003.2	+	8	1204	c.1016G>C	c.(1015-1017)aGa>aCa	p.R339T	TBCEL_ENST00000529397.1_Missense_Mutation_p.R339T	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	339	Ubiquitin-like.					cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GTGGACCTAAGACCCCAGAGC	0.418000													9	59					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898975	28898975	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:28898975C>A	ENST00000395503.4	+	8	1044	c.860C>A	c.(859-861)tCc>tAc	p.S287Y	ATP2A1_ENST00000357084.3_Missense_Mutation_p.S287Y|ATP2A1_ENST00000536376.1_Missense_Mutation_p.S162Y	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	287					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CATGGGGGCTCCTGGTTCCGC	0.552000													13	120					7.03913e-09	7.2536e-09	1	1	0
SLC47A1	55244	broad.mit.edu	37	17	19480648	19480648	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:19480648G>A	ENST00000270570.4	+	17	1581	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	SLC47A1_ENST00000436810.2_Silent_p.*444*|SLC47A1_ENST00000457293.1_Missense_Mutation_p.E499K|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Missense_Mutation_p.E499K|SLC47A1_ENST00000571335.1_Missense_Mutation_p.E245K|SLC47A1_ENST00000575023.1_Missense_Mutation_p.E197K	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	499						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					AGGGTGCCCTGAAAACCTTGA	0.413000													13	69					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63682424	63682424	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:63682424C>G	ENST00000301459.4	-	4	655	c.268G>C	c.(268-270)Gac>Cac	p.D90H		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	90	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						ATGTACTTGTCAACTGCAGGG	0.612000													18	89					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230278	140230278	+	Missense_Mutation	SNP	C	C	T	rs138234390	byFrequency	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:140230278C>T	ENST00000378122.3	+	1	2922	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.A733V|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAGTGCGCGCCTGGCAAG	0.642000													29	127					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146125779	146125779	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:146125779C>G	ENST00000237281.4	-	2	1929	c.1763G>C	c.(1762-1764)gGa>gCa	p.G588A		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	588							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TGGCTGAACTCCAAATGACCT	0.413000													15	89					0	0	1	0	0
CYP2A7	1549	broad.mit.edu	37	19	41388065	41388065	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:41388065C>G	ENST00000301146.4	-	1	592	c.51G>C	c.(49-51)gtG>gtC	p.V17V	CTC-490E21.12_ENST00000601627.1_Intron|CYP2A7_ENST00000291764.3_Silent_p.V17V	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	17						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCAAGACCATCACAGTCAGGC	0.577000													9	43					0	0	1	0	0
SNX9	51429	broad.mit.edu	37	6	158327215	158327215	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:158327215G>C	ENST00000392185.3	+	7	847	c.676G>C	c.(676-678)Gca>Cca	p.A226P		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	226					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CAAACAACTAGCAAAACCCAA	0.343000													10	75					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33886985	33886985	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:33886985C>G	ENST00000307296.3	+	12	1923	c.1546C>G	c.(1546-1548)Cat>Gat	p.H516D	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.H521D			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	516	Interaction with EIAV p9.|Self-association.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTACCAGTCTCATCGTGACAC	0.468000													21	68					0	0	1	0	0
YWHAG	7532	broad.mit.edu	37	7	75959272	75959272	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:75959272G>C	ENST00000307630.3	-	2	588	c.366C>G	c.(364-366)ttC>ttG	p.F122L		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	122				SKVF -> RKDL (in Ref. 1; AAD48408).	G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TCTTCAGGTAGAACACTTTGC	0.552000													25	134					0	0	1	0	0
LRRN4CL	221091	broad.mit.edu	37	11	62455473	62455473	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:62455473C>G	ENST00000317449.4	-	2	985	c.508G>C	c.(508-510)Gag>Cag	p.E170Q		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	170	Fibronectin type-III.					integral to membrane				cervix(1)|kidney(1)	2						TCGAGGCCCTCTCCTCCAGCC	0.706000													4	25					0	0	1	0	0
ERI2	112479	broad.mit.edu	37	16	20812641	20812641	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:20812641G>A	ENST00000564349.1	-	6	540	c.65C>T	c.(64-66)tCt>tTt	p.S22F	ERI2_ENST00000300005.3_Missense_Mutation_p.S115F|ERI2_ENST00000389345.5_5'UTR|ERI2_ENST00000563117.1_Missense_Mutation_p.S22F|ERI2_ENST00000569729.1_Missense_Mutation_p.S115F|ERI2_ENST00000357967.4_Missense_Mutation_p.S115F			A8K979	ERI2_HUMAN	ERI1 exoribonuclease family member 2	115						intracellular	exonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(2)	11						ACAGAACTGAGATAAGCAAAT	0.358000													16	145					0	0	1	0	0
KIF15	56992	broad.mit.edu	37	3	44869779	44869779	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:44869779G>C	ENST00000326047.4	+	24	3079	c.2930G>C	c.(2929-2931)aGa>aCa	p.R977T	KIF15_ENST00000425755.1_Missense_Mutation_p.R612T	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	977					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAGTCTAGAGATTCTGAT	0.358000													5	46					0	0	1	0	0
DPP4	1803	broad.mit.edu	37	2	162894854	162894854	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:162894854C>T	ENST00000360534.3	-	8	1131	c.571G>A	c.(571-573)Gaa>Aaa	p.E191K		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	191					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATTATATCTTCTTTCCCCGTC	0.284000													28	123					0	0	1	0	0
RFX1	5989	broad.mit.edu	37	19	14074531	14074531	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:14074531C>G	ENST00000254325.4	-	18	2623	c.2389G>C	c.(2389-2391)Gag>Cag	p.E797Q		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	797	Necessary for dimerization.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ACGCGGTCCTCGCAGCGGCAC	0.736000													3	17					0	0	1	0	0
NDRG3	57446	broad.mit.edu	37	20	35281994	35281994	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:35281994C>G	ENST00000373803.2	-	17	1152	c.1096G>C	c.(1096-1098)Gat>Cat	p.D366H	NDRG3_ENST00000373773.3_Missense_Mutation_p.D258H|NDRG3_ENST00000359675.2_Missense_Mutation_p.D341H|NDRG3_ENST00000540765.1_Missense_Mutation_p.D249H|NDRG3_ENST00000349004.1_Missense_Mutation_p.D353H			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	353					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				TGAGTTCCATCTGACTGATTG	0.567000													10	42					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179412812	179412812	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:179412812C>T	ENST00000589042.1	-	339	93765	c.93541G>A	c.(93541-93543)Gaa>Aaa	p.E31181K	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E22241K|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E22116K|TTN_ENST00000342992.6_Missense_Mutation_p.E28613K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E22308K|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E29540K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29540	Fibronectin type-III 127.						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)			AATTCATATTCAGTTTTCTCA	0.453000													30	129					0	0	1	0	0
NDEL1	81565	broad.mit.edu	37	17	8351882	8351882	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:8351882C>T	ENST00000334527.7	+	5	601	c.404C>T	c.(403-405)tCa>tTa	p.S135L	NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000402554.3_Missense_Mutation_p.S135L|NDEL1_ENST00000380025.4_Missense_Mutation_p.S135L|NDEL1_ENST00000299734.7_Missense_Mutation_p.S135L	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	135	Interaction with KATNB1 (By similarity).|Self-association (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						ACAATAGTTTCACTGGAAGAC	0.338000													11	51					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37126021	37126021	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:37126021C>T	ENST00000262879.6	+	4	699	c.415C>T	c.(415-417)Cga>Tga	p.R139*	RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Nonsense_Mutation_p.R139*|RALGAPB_ENST00000397042.3_Nonsense_Mutation_p.R139*|RALGAPB_ENST00000397040.1_Nonsense_Mutation_p.R139*			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	139					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CAGTCAGATTCGACTATGCTT	0.493000													27	124					0	0	1	0	0
DTX3L	151636	broad.mit.edu	37	3	122284793	122284793	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:122284793C>T	ENST00000296161.4	+	2	464	c.275C>T	c.(274-276)tCa>tTa	p.S92L	DTX3L_ENST00000383661.3_Missense_Mutation_p.S92L	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	92					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		ACTGAAAATTCAATAAAGAAG	0.408000													15	81					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30331900	30331900	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:30331900C>G	ENST00000389194.2	-	13	2616	c.2611G>C	c.(2611-2613)Gat>Cat	p.D871H	LTN1_ENST00000361371.5_Missense_Mutation_p.D825H	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	825							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TAGGCCACATCACAGATAAAA	0.343000													32	141					0	0	1	0	0
HSD17B7	51478	broad.mit.edu	37	1	162762471	162762471	+	Nonsense_Mutation	SNP	A	A	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:162762471A>T	ENST00000367917.3	+	2	126	c.58A>T	c.(58-60)Aag>Tag	p.K20*	HSD17B7_ENST00000367913.1_Nonsense_Mutation_p.K20*|HSD17B7_ENST00000367915.1_Nonsense_Mutation_p.K20*|HSD17B7_ENST00000254521.3_Nonsense_Mutation_p.K20*|HSD17B7_ENST00000485405.1_3'UTR			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	20					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity			endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	GGCCCTCTGCAAGCGGCTGCT	0.547000													3	18					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117342738	117342738	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:117342738G>C	ENST00000321322.6	-	15	2980	c.2979C>G	c.(2977-2979)ttC>ttG	p.F993L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.F723L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	933	Fibronectin type-III 2.				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)		TGGACTGCTTGAAGTCCCAGG	0.517000													5	53					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21413820	21413820	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:21413820C>T	ENST00000313654.9	+	24	3093	c.2852C>T	c.(2851-2853)cCa>cTa	p.P951L	LAMA3_ENST00000399516.3_Missense_Mutation_p.P951L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	951	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGCGCATCCCACAGGTTGGC	0.547000													37	203					0	0	1	0	0
PABPC5	140886	broad.mit.edu	37	X	90690802	90690802	+	Silent	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:90690802T>C	ENST00000312600.3	+	2	440	c.226T>C	c.(226-228)Ttg>Ctg	p.L76L	PABPC5_ENST00000373105.1_Intron	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	76	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGAGTGGGCCTTGAACACCAT	0.507000													13	25					0	0	1	0	0
C11orf83	790955	broad.mit.edu	37	11	62439220	62439220	+	Translation_Start_Site	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:62439220G>A	ENST00000531323.1	+	2	546	c.3G>A	c.(1-3)atG>atA	p.M1I	C11orf48_ENST00000354588.3_5'UTR|C11orf48_ENST00000431002.2_5'UTR|C11orf83_ENST00000377953.3_Start_Codon_SNP_p.M1I			Q6UW78	CK083_HUMAN	chromosome 11 open reading frame 83	1						extracellular region				cervix(1)|lung(1)|prostate(1)	3						AGGCGGCCATGGATTCCTTGC	0.687000													11	70					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972943	25972943	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:25972943G>A	ENST00000435504.4	-	12	1775	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	ASXL2_ENST00000404843.1_Silent_p.V234V|ASXL2_ENST00000272341.4_Silent_p.V234V|ASXL2_ENST00000336112.4_Silent_p.V466V			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	494					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCAGAGGTGACTGGCTTCT	0.458000													20	151					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	866764	866764	+	Silent	SNP	C	C	G	rs138617518		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:866764C>G	ENST00000316157.3	-	13	1546	c.1506G>C	c.(1504-1506)cgG>cgC	p.R502R		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	502							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCCTTTTCTTCCGGTAGCCAA	0.348000													12	76					0	0	1	0	0
G6PC	2538	broad.mit.edu	37	17	41056052	41056052	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:41056052G>A	ENST00000253801.2	+	2	414	c.335G>A	c.(334-336)gGa>gAa	p.G112E	G6PC_ENST00000592383.1_Missense_Mutation_p.G112E|G6PC_ENST00000585489.1_Missense_Mutation_p.G112E	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	112					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGTGAGACTGGACCAGGTAAG	0.522000													20	71					0	0	1	0	0
TEX9	374618	broad.mit.edu	37	15	56687022	56687022	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:56687022C>T	ENST00000558083.2	+	8	923	c.593C>T	c.(592-594)tCa>tTa	p.S198L	TEX9_ENST00000561221.2_Missense_Mutation_p.S273L|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000560582.1_Missense_Mutation_p.S29L|TEX9_ENST00000352903.2_Missense_Mutation_p.S273L|TEX9_ENST00000537232.1_Missense_Mutation_p.S198L			Q8N6V9	TEX9_HUMAN	testis expressed 9	273										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		CAGTTGTCTTCAGTAGAAAGG	0.313000													11	37					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238285641	238285641	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:238285641G>C	ENST00000295550.4	-	7	3296	c.2844C>G	c.(2842-2844)gtC>gtG	p.V948V	COL6A3_ENST00000472056.1_Silent_p.V341V|COL6A3_ENST00000409809.1_Silent_p.V742V|COL6A3_ENST00000347401.3_Silent_p.V747V|COL6A3_ENST00000392003.2_Silent_p.V541V|COL6A3_ENST00000346358.4_Silent_p.V748V|COL6A3_ENST00000353578.4_Silent_p.V742V|COL6A3_ENST00000392004.3_Silent_p.V742V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	948	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACCTTCCTGCGACCAGCAGCA	0.562000													12	89					0	0	1	0	0
RAD23A	5886	broad.mit.edu	37	19	13063804	13063804	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:13063804G>A	ENST00000586534.1	+	9	1094	c.1033G>A	c.(1033-1035)Gaa>Aaa	p.E345K	RAD23A_ENST00000541222.1_Missense_Mutation_p.E180K|RAD23A_ENST00000316856.3_Missense_Mutation_p.E344K|RAD23A_ENST00000592268.1_Missense_Mutation_p.E290K			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	345	HIV-1 vpr binding.|UBA 2.				interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TTTCGCGTGTGAAAAAAATGA	0.547000								Nucleotide excision repair (NER)					7	104					0	0	1	0	0
BRPF3	27154	broad.mit.edu	37	6	36178226	36178226	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:36178226C>T	ENST00000357641.6	+	6	2353	c.2100C>T	c.(2098-2100)atC>atT	p.I700I	BRPF3_ENST00000443324.2_Silent_p.I700I|BRPF3_ENST00000534400.1_Silent_p.I700I|BRPF3_ENST00000534694.1_Silent_p.I700I|BRPF3_ENST00000543502.1_Silent_p.I700I|BRPF3_ENST00000339717.7_Silent_p.I700I	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	700					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAGAGAACATCGGCTATGACC	0.602000													9	80					0	0	1	0	0
PLIN3	10226	broad.mit.edu	37	19	4839528	4839528	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:4839528G>A	ENST00000221957.4	-	8	1157	c.981C>T	c.(979-981)ctC>ctT	p.L327L	PLIN3_ENST00000592528.1_Silent_p.L315L|PLIN3_ENST00000585479.1_Silent_p.L326L	NM_001164189.1|NM_001164194.1|NM_005817.4	NP_001157661.1|NP_001157666.1|NP_005808.3	O60664	PLIN3_HUMAN	perilipin 3	327					vesicle-mediated transport	endosome membrane|Golgi apparatus|lipid particle	protein binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9					Galsulfase(DB01279)|Idursulfase(DB01271)	GGAACATGGTGAGCGCCCGGG	0.607000													7	26					0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915738	72915738	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:72915738G>C	ENST00000319642.1	-	2	1375	c.1193C>G	c.(1192-1194)tCt>tGt	p.S398C		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	398	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CATGTGCAGAGAGGCCAGGAA	0.632000													9	63					0	0	1	0	0
LRFN3	79414	broad.mit.edu	37	19	36430720	36430720	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:36430720C>T	ENST00000588831.1	+	3	1447	c.393C>T	c.(391-393)gtC>gtT	p.V131V	LRFN3_ENST00000246529.3_Silent_p.V131V			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	131					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCGGCCTGGTCAACTTGCGCC	0.697000													6	64					0	0	1	0	0
MCAT	27349	broad.mit.edu	37	22	43539109	43539109	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:43539109G>C	ENST00000290429.6	-	1	291	c.246C>G	c.(244-246)ctC>ctG	p.L82L	MCAT_ENST00000464244.1_5'UTR|MCAT_ENST00000327555.5_Silent_p.L82L	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCGGGTAGTTGAGCAGACCGC	0.741000													3	18					0	0	1	0	0
USP45	85015	broad.mit.edu	37	6	99936646	99936646	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:99936646C>T	ENST00000327681.6	-	6	1061	c.529G>A	c.(529-531)Gaa>Aaa	p.E177K	USP45_ENST00000472914.2_Missense_Mutation_p.E177K|USP45_ENST00000500704.2_Missense_Mutation_p.E177K|USP45_ENST00000392738.2_5'UTR|USP45_ENST00000369233.2_Missense_Mutation_p.E177K|USP45_ENST00000329966.6_Missense_Mutation_p.E177K	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	177					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		TTCTGTATTTCATCTGTTTCA	0.303000													13	96					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441534	37441534	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:37441534G>A	ENST00000415168.1	+	5	1663	c.1287G>A	c.(1285-1287)caG>caA	p.Q429Q	ZNF568_ENST00000333987.7_Silent_p.Q493Q|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTCGACACCAGAGAATTCATA	0.388000													16	91					0	0	1	0	0
COL14A1	7373	broad.mit.edu	37	8	121209047	121209047	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:121209047C>G	ENST00000297848.3	+	6	724	c.454C>G	c.(454-456)Caa>Gaa	p.Q152E	COL14A1_ENST00000537875.1_Missense_Mutation_p.Q152E|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.Q152E|COL14A1_ENST00000247781.3_Missense_Mutation_p.Q152E	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	152					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ATTTGTCTGTCAAACTCCAGC	0.408000													30	141					0	0	1	0	0
STC2	8614	broad.mit.edu	37	5	172755067	172755067	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:172755067G>A	ENST00000265087.4	-	1	1439	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C		NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	44					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AGGGACAGGCGGCCTTTCTGC	0.682000													16	86					0	0	1	0	0
ETS1	2113	broad.mit.edu	37	11	128360415	128360415	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:128360415G>C	ENST00000392668.4	-	4	355	c.271C>G	c.(271-273)Caa>Gaa	p.Q91E	ETS1_ENST00000345075.4_Missense_Mutation_p.Q47E|ETS1_ENST00000319397.6_Missense_Mutation_p.Q47E|ETS1_ENST00000531611.1_Missense_Mutation_p.Q47E|ETS1_ENST00000535549.1_Intron|ETS1_ENST00000526145.2_Missense_Mutation_p.Q47E	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1		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)		TTTAATGCTTGAGACATCATT	0.378000													21	92					0	0	1	0	0
PIWIL3	440822	broad.mit.edu	37	22	25155941	25155941	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:25155941G>C	ENST00000332271.5	-	3	534	c.118C>G	c.(118-120)Cag>Gag	p.Q40E	PIWIL3_ENST00000533313.1_5'UTR|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_5'UTR	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	40					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACTGCAACTGAGGGGGCTCC	0.567000													31	220					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114329859	114329859	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:114329859G>A	ENST00000408937.3	+	18	2475	c.2101G>A	c.(2101-2103)Gag>Aag	p.E701K	FOXP2_ENST00000393498.2_Missense_Mutation_p.E655K|FOXP2_ENST00000393494.2_Missense_Mutation_p.E676K|FOXP2_ENST00000350908.4_Missense_Mutation_p.E676K|FOXP2_ENST00000393491.3_Missense_Mutation_p.E491K|FOXP2_ENST00000403559.4_Missense_Mutation_p.E693K|FOXP2_ENST00000393489.3_Missense_Mutation_p.E584K	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	676					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CGTCAAGGAAGAGCCAGTGAT	0.418000													10	60					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90371850	90371850	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:90371850C>T	ENST00000369393.3	-	87	14636	c.14521G>A	c.(14521-14523)Gat>Aat	p.D4841N	MDN1_ENST00000428876.1_Missense_Mutation_p.D4841N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4841					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTCCACCATCATCAGCTTCT	0.393000													13	126					0	0	1	0	0
RGS11	8786	broad.mit.edu	37	16	321237	321237	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:321237G>C	ENST00000397770.3	-	12	844	c.827C>G	c.(826-828)tCa>tGa	p.S276*	RGS11_ENST00000316163.5_Nonsense_Mutation_p.S255*|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Nonsense_Mutation_p.S265*			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	276	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				GTCATTGTCTGAGATCCAGGG	0.677000													5	22					0	0	1	0	0
UBA3	9039	broad.mit.edu	37	3	69126979	69126979	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:69126979G>A	ENST00000361055.4	-	3	207	c.153C>T	c.(151-153)ttC>ttT	p.F51F	UBA3_ENST00000415609.2_Silent_p.F37F|UBA3_ENST00000349511.4_Silent_p.F37F|UBA3_ENST00000540295.1_5'UTR	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	51					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CAGGGTGTGTGAAGGGTCCAG	0.433000													49	191					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8484335	8484335	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:8484335C>A	ENST00000381196.4	-	27	3740	c.3197G>T	c.(3196-3198)cGa>cTa	p.R1066L	PTPRD_ENST00000397611.3_Missense_Mutation_p.R652L|PTPRD_ENST00000537002.1_Missense_Mutation_p.R652L|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1053L|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1044L|PTPRD_ENST00000355233.5_Missense_Mutation_p.R655L|PTPRD_ENST00000486161.1_Missense_Mutation_p.R655L|PTPRD_ENST00000397617.3_Missense_Mutation_p.R645L|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1066L|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1066L|PTPRD_ENST00000397606.3_Missense_Mutation_p.R645L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1066	Fibronectin type-III 8.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGTGTGGCTCGGCCATCCAC	0.393000										TSP Lung(15;0.13)			4	48					0.00116845	0.00118098	1	1	0
LCN9	392399	broad.mit.edu	37	9	138556079	138556079	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:138556079G>A	ENST00000277526.3	+	2	168	c.168G>A	c.(166-168)ctG>ctA	p.L56L	LCN9_ENST00000430290.2_3'UTR	NM_001001676.1	NP_001001676.1	Q8WX39	LCN9_HUMAN	lipocalin 9	56						extracellular region	pheromone binding|transporter activity			kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	6		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;3.43e-07)|Epithelial(140;1.97e-06)|all cancers(34;6.1e-05)		ATGGAGACCTGAGGGTCTTCG	0.468000													14	76					0	0	1	0	0
C7orf31	136895	broad.mit.edu	37	7	25200830	25200830	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:25200830C>T	ENST00000409280.1	-	4	669	c.361G>A	c.(361-363)Gat>Aat	p.D121N	C7orf31_ENST00000283905.3_Missense_Mutation_p.D121N			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	121										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						CCATAGACATCACTTTTTTTG	0.239000													7	38					0	0	1	0	0
MAN2C1	4123	broad.mit.edu	37	15	75652499	75652499	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:75652499G>A	ENST00000565683.1	-	14	1649	c.1638C>T	c.(1636-1638)ctC>ctT	p.L546L	MAN2C1_ENST00000569482.1_Silent_p.L546L|MAN2C1_ENST00000267978.5_Silent_p.L546L|MAN2C1_ENST00000563622.1_Silent_p.L447L	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	546					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						CCAGGCTACTGAGCAGCTCCA	0.617000													31	145					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890211	228890211	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:228890211G>C	ENST00000392056.3	-	5	386	c.340C>G	c.(340-342)Ctt>Gtt	p.L114V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.L114V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	114						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GAACTGATAAGTTTTGGAAGA	0.358000													17	89					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63256845	63256845	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:63256845C>G	ENST00000323865.3	-	1	935	c.702G>C	c.(700-702)gaG>gaC	p.E234D	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	234					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CTCCGGTCTTCTCCACCTTTT	0.612000													8	86					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30678824	30678824	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:30678824G>A	ENST00000394670.4	+	2	230	c.61G>A	c.(61-63)Gat>Aat	p.D21N	ZNF207_ENST00000577908.1_Missense_Mutation_p.D21N|ZNF207_ENST00000342555.6_Missense_Mutation_p.D24N|ZNF207_ENST00000321233.6_Missense_Mutation_p.D21N|ZNF207_ENST00000394673.2_Missense_Mutation_p.D21N|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000341711.6_Missense_Mutation_p.D21N	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	21						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			TAGAGATTTTGATGATGAGAA	0.328000													13	78					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655035	110655035	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:110655035C>T	ENST00000399066.3	-	1	869	c.142G>A	c.(142-144)Gag>Aag	p.E48K	SYBU_ENST00000422135.1_Missense_Mutation_p.E51K|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000533171.1_Missense_Mutation_p.E51K|SYBU_ENST00000276646.9_Missense_Mutation_p.E51K|SYBU_ENST00000408908.2_Missense_Mutation_p.E51K|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000446070.2_Missense_Mutation_p.E50K|SYBU_ENST00000424158.2_Missense_Mutation_p.E56K|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000533895.1_Missense_Mutation_p.E50K|SYBU_ENST00000528647.1_Missense_Mutation_p.E50K|SYBU_ENST00000433638.1_Missense_Mutation_p.E51K|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000440310.1_Missense_Mutation_p.E51K|SYBU_ENST00000419099.1_Missense_Mutation_p.E50K	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	51	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTCTCTTCCTCAGAGAAAGGA	0.567000													10	59					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179422195	179422195	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:179422195C>G	ENST00000589042.1	-	329	88018	c.87794G>C	c.(87793-87795)gGa>gCa	p.G29265A	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G20325A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G20200A|TTN_ENST00000342992.6_Missense_Mutation_p.G26697A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G20392A|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G27624A|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27624	Fibronectin type-III 113.						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)			TGCACTGCCTCCATTTGACAC	0.458000													20	106					0	0	1	0	0
NDNF	79625	broad.mit.edu	37	4	121957872	121957872	+	Silent	SNP	G	G	A	rs148977529	byFrequency	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:121957872G>A	ENST00000379692.4	-	4	1780	c.1254C>T	c.(1252-1254)ctC>ctT	p.L418L		NM_024574.3	NP_078850.3	Q8TB73	CD031_HUMAN	neuron-derived neurotrophic factor	418										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TCAGTCGAACGAGGTATTTAG	0.418000													32	157					0	0	1	0	0
PHKA1	5255	broad.mit.edu	37	X	71839103	71839103	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:71839103G>A	ENST00000373545.3	-	19	2451	c.2013C>T	c.(2011-2013)ttC>ttT	p.F671F	PHKA1_ENST00000373542.4_Silent_p.F730F|PHKA1_ENST00000339490.3_Silent_p.F730F|PHKA1_ENST00000373539.3_Silent_p.F730F|PHKA1_ENST00000541944.1_Silent_p.F671F			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	730					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAAGTAAGTTGAATGAAGGCC	0.378000													9	15					0	0	1	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177733	70177733	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:70177733G>A	ENST00000377420.1	-	1	1082	c.251C>T	c.(250-252)tCa>tTa	p.S84L		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	84					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						GCCAAACTCTGAGGGGTCACT	0.692000													25	289					0	0	1	0	0
SIK2	23235	broad.mit.edu	37	11	111573969	111573969	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:111573969C>G	ENST00000304987.3	+	7	943	c.770C>G	c.(769-771)tCc>tGc	p.S257C		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	257	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTAGACCCATCCAAACGGCTA	0.428000													14	62					0	0	1	0	0
STARD7-AS1	285033	broad.mit.edu	37	2	96906060	96906060	+	RNA	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:96906060G>C	ENST00000446816.1	+	0	564																											CTATTATTCAGAATGAAAAGT	0.398000													6	37					0	0	1	0	0
RAD54L	8438	broad.mit.edu	37	1	46726471	46726471	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:46726471G>C	ENST00000371975.4	+	7	1224	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	RAD54L_ENST00000442598.1_Missense_Mutation_p.E184Q	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	184	Helicase ATP-binding.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		CATGGCTGATGAGATGGGCCT	0.527000								Direct reversal of damage;Homologous recombination					13	38					0	0	1	0	0
CNTRL	11064	broad.mit.edu	37	9	123933782	123933782	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:123933782G>A	ENST00000373855.1	+	40	6633	c.6373G>A	c.(6373-6375)Gag>Aag	p.E2125K	CNTRL_ENST00000373850.1_Missense_Mutation_p.E1573K|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.E2125K			Q7Z7A1	CNTRL_HUMAN	centriolin	2125	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						CCTGATGAAGGAGCTCAACCA	0.547000													4	30					0	0	1	0	0
C9orf78	51759	broad.mit.edu	37	9	132597449	132597449	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:132597449C>T	ENST00000372447.3	-	1	105	c.52G>A	c.(52-54)Gag>Aag	p.E18K		NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78	18										kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TCATCTTCCTCTGACTCCGAG	0.642000													5	88					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120457999	120457999	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:120457999C>G	ENST00000256646.2	-	34	7565	c.7346G>C	c.(7345-7347)gGa>gCa	p.G2449A		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2449					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGACCTCCTCCAGCACCCCC	0.567000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				32	95					0	0	1	0	0
ZGLP1	100125288	broad.mit.edu	37	19	10418946	10418946	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:10418946C>T	ENST00000403903.3	-	1	1610	c.412G>A	c.(412-414)Gag>Aag	p.E138K	FDX1L_ENST00000541276.1_3'UTR|ZGLP1_ENST00000403352.1_Missense_Mutation_p.E54K|CTD-2369P2.10_ENST00000452032.2_3'UTR	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	138					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						TCCACTCTCTCGGTGCCCCGG	0.662000													11	53					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124701168	124701168	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:124701168C>G	ENST00000262219.6	-	10	851	c.784G>C	c.(784-786)Gaa>Caa	p.E262Q	ANXA13_ENST00000419625.1_Missense_Mutation_p.E221Q	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	221					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGGCTTCTTCTATGTCTTTG	0.443000													33	157					0	0	1	0	0
ESPL1	9700	broad.mit.edu	37	12	53682428	53682428	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:53682428G>C	ENST00000257934.4	+	20	4744	c.4653G>C	c.(4651-4653)gaG>gaC	p.E1551D	ESPL1_ENST00000552462.1_Missense_Mutation_p.E1551D	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1551					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CAGACAAGGAGAGTGACAAGG	0.617000													11	53					0	0	1	0	0
CEP164	22897	broad.mit.edu	37	11	117258004	117258004	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:117258004G>C	ENST00000278935.3	+	15	1957	c.1810G>C	c.(1810-1812)Gag>Cag	p.E604Q	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	604	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCAAGTACTCGAGCAAGACCA	0.592000													17	110					0	0	1	0	0
GJB3	2707	broad.mit.edu	37	1	35251033	35251033	+	Nonsense_Mutation	SNP	C	C	T	rs139005182		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:35251033C>T	ENST00000373366.2	+	2	1285	c.670C>T	c.(670-672)Cga>Tga	p.R224*	RP1-34M23.5_ENST00000542839.1_RNA|GJB3_ENST00000373362.3_Nonsense_Mutation_p.R224*	NM_024009.2	NP_076872.1	O75712	CXB3_HUMAN	gap junction protein, beta 3, 31kDa	224					cell communication	connexon complex|integral to membrane	gap junction channel activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGACAAGCCTCGAGGGGGTTG	0.657000													6	25					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179480470	179480470	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:179480470C>G	ENST00000589042.1	-	258	48582	c.48358G>C	c.(48358-48360)Gtt>Ctt	p.V16120L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V7180L|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V7055L|TTN_ENST00000342992.6_Missense_Mutation_p.V13552L|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V7247L|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V14479L|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14479							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)			TTTCCTTGAACAAGATCAGGA	0.388000													12	83					0	0	1	0	0
IGFALS	3483	broad.mit.edu	37	16	1842251	1842251	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:1842251G>A	ENST00000568221.1	-	2	284	c.200C>T	c.(199-201)tCa>tTa	p.S67L	IGFALS_ENST00000415638.3_Silent_p.L94L|IGFALS_ENST00000215539.3_Silent_p.L56L			P35858	ALS_HUMAN	insulin-like growth factor binding protein, acid labile subunit	0	LRRNT.				cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGAAGACGCTGAGCTCATCCG	0.697000													5	20					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539937	169539937	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:169539937C>G	ENST00000340806.6	+	1	228	c.228C>G	c.(226-228)ctC>ctG	p.L76L		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	76										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCAGGGTCCTCTACCTGGATA	0.502000													18	97					0	0	1	0	0
MUC4	4585	broad.mit.edu	37	3	195516581	195516581	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:195516581T>A	ENST00000463781.3	-	2	2329	c.1870A>T	c.(1870-1872)Aca>Tca	p.T624S	MUC4_ENST00000475231.1_Missense_Mutation_p.T624S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	629					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGTGCTTGTGGAATGTATT	0.493000													44	228					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228890180	228890180	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:228890180T>C	ENST00000392056.3	-	5	417	c.371A>G	c.(370-372)aAa>aGa	p.K124R	SPHKAP_ENST00000344657.5_Missense_Mutation_p.K124R	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	124						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTCATTTTCTTTTGGTTGTTG	0.358000													13	74					0	0	1	0	0
KIZ-AS1	101929591	broad.mit.edu	37	20	21142854	21142854	+	RNA	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:21142854C>G	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							GGAACAAACTCATTGCTTGGA	0.418000													19	125					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58941343	58941343	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:58941343G>A	ENST00000423743.3	+	20	2779	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K	KIAA0586_ENST00000261244.5_Missense_Mutation_p.E809K|KIAA0586_ENST00000354386.6_Missense_Mutation_p.E938K|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.E870K	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	809										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAATGTGATGAAATTCCAGA	0.343000													6	29					0	0	1	0	0
MSLN	10232	broad.mit.edu	37	16	818647	818647	+	Splice_Site	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:818647G>C	ENST00000566549.1	+	17	2200		c.e17-1		MSLN_ENST00000545450.2_Splice_Site|MSLN_ENST00000382862.3_Splice_Site|MSLN_ENST00000563941.1_Splice_Site			Q13421	MSLN_HUMAN	mesothelin						cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				TCTCTCTGTAGAGGCCCTCTC	0.697000													8	30					0	0	1	0	0
CKAP2L	150468	broad.mit.edu	37	2	113496498	113496498	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:113496498G>A	ENST00000541405.1	-	9	2168	c.1645C>T	c.(1645-1647)Ctt>Ttt	p.L549F	NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000302450.6_Missense_Mutation_p.L714F			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	714						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AGTTCATCAAGAGAAGCCACT	0.438000													24	164					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68596207	68596207	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:68596207G>C	ENST00000423218.2	-	29	3496	c.3401C>G	c.(3400-3402)tCc>tGc	p.S1134C	ITGA11_ENST00000315757.7_Missense_Mutation_p.S1133C			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	1133					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	CTCTTGCTTGGAGATCTCAAA	0.632000													3	38					0	0	1	0	0
IFNGR2	3460	broad.mit.edu	37	21	34809249	34809249	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:34809249G>C	ENST00000290219.6	+	7	1642	c.994G>C	c.(994-996)Gat>Cat	p.D332H	TMEM50B_ENST00000468874.2_5'UTR|IFNGR2_ENST00000405436.1_Missense_Mutation_p.D253H|IFNGR2_ENST00000381995.1_Missense_Mutation_p.D351H	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	332					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GGAGCAAGAAGATGTTCTCCA	0.517000													9	59					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42329899	42329899	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:42329899C>G	ENST00000342228.3	-	2	379	c.10G>C	c.(10-12)Gat>Cat	p.D4H	SLC20A2_ENST00000520262.1_Missense_Mutation_p.D4H|SLC20A2_ENST00000520179.1_Missense_Mutation_p.D4H	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	4					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAATACTCATCCATGGCCATT	0.413000													9	84					0	0	1	0	0
RAET1L	154064	broad.mit.edu	37	6	150342222	150342222	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:150342222G>C	ENST00000367341.1	-	3	449	c.450C>G	c.(448-450)ctC>ctG	p.L150L	RAET1L_ENST00000286380.2_Silent_p.L150L			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	150	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		CTGAGTCAAAGAGTAGGAAGG	0.488000													32	180					0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80048886	80048886	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:80048886C>A	ENST00000306749.2	-	10	1770	c.1552G>T	c.(1552-1554)Gat>Tat	p.D518Y		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	518	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGGATGGAATCTCGGAAGCGG	0.617000													8	43					0.000442599	0.000448378	1	1	0
TMEM63A	9725	broad.mit.edu	37	1	226049941	226049941	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:226049941G>C	ENST00000366835.3	-	13	1332	c.1062C>G	c.(1060-1062)ttC>ttG	p.F354L	TMEM63A_ENST00000537914.1_Missense_Mutation_p.F28L|TMEM63A_ENST00000474478.1_5'UTR	NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	354						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					ACTTCTCCTGGAAGGTGACGA	0.567000													4	50					0	0	1	0	0
SNHG1	23642	broad.mit.edu	37	11	62620497	62620497	+	RNA	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:62620497C>T	ENST00000384756.1	-	0	10					NR_000008.2																						GTGAAAGTTTCTTCATTGGGA	0.453000													21	80					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31595668	31595668	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:31595668G>A	ENST00000376033.2	+	12	1651	c.1417G>A	c.(1417-1419)Gaa>Aaa	p.E473K	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E473K	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	473	2 X type B repeats.|4 X 57 AA type A repeats.|Poly-Glu.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACGGCGAGAAGAAGAGGAGCG	0.612000													23	105					0	0	1	0	0
CEP250	11190	broad.mit.edu	37	20	34091585	34091585	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:34091585G>A	ENST00000397527.1	+	30	6108	c.5388G>A	c.(5386-5388)ctG>ctA	p.L1796L	CEP250_ENST00000342580.4_Silent_p.L1740L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1796	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AAGGGGAGCTGAAGGAGCAGT	0.597000													18	87					0	0	1	0	0
NECAP2	55707	broad.mit.edu	37	1	16778370	16778370	+	Missense_Mutation	SNP	G	G	A	rs140549179	byFrequency	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:16778370G>A	ENST00000337132.5	+	6	617	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	NECAP2_ENST00000406746.1_Missense_Mutation_p.R176Q|NECAP2_ENST00000457722.2_Missense_Mutation_p.R150Q|NECAP2_ENST00000504551.2_Missense_Mutation_p.R115Q|NECAP2_ENST00000443980.2_Missense_Mutation_p.R176Q	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	176					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAATCCCCGAGTCCGGCCT	0.597000													18	114					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000398940.1_Silent_p.Q33Q|MAML3_ENST00000327122.5_Silent_p.Q338Q	NM_018717.4	NP_061187	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													3	38					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90432698	90432698	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:90432698C>T	ENST00000369393.3	-	40	6058	c.5943G>A	c.(5941-5943)atG>atA	p.M1981I	MDN1_ENST00000428876.1_Missense_Mutation_p.M1981I			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1981					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CTTCGGTTCTCATTCTTTCAC	0.448000													27	192					0	0	1	0	0
SLC12A7	10723	broad.mit.edu	37	5	1057746	1057746	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:1057746T>A	ENST00000264930.5	-	22	2909	c.2866A>T	c.(2866-2868)Agg>Tgg	p.R956W		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	956					potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGGTGTTCCTGTCGTGGATC	0.677000													21	97					0	0	1	0	0
AREL1	9870	broad.mit.edu	37	14	75134072	75134072	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:75134072C>T	ENST00000356357.4	-	17	2568	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	AREL1_ENST00000557401.1_5'UTR	NM_001039479.1	NP_001034568.1			apoptosis resistant E3 ubiquitin protein ligase 1																		GGGACCAATTCATTCAGGCCT	0.408000													16	76					0	0	1	0	0
ZNF862	643641	broad.mit.edu	37	7	149557965	149557965	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:149557965G>A	ENST00000223210.4	+	7	1961	c.1716G>A	c.(1714-1716)ctG>ctA	p.L572L	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						CAAGGCCCCTGAATGACTTTG	0.532000													8	48					0	0	1	0	0
CENPB	1059	broad.mit.edu	37	20	3766876	3766876	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:3766876G>C	ENST00000379751.4	-	1	461	c.255C>G	c.(253-255)ttC>ttG	p.F85L		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	85	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GGATCTGCTGGAACCAGGCGA	0.652000													16	80					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216286816	216286816	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:216286816C>G	ENST00000354785.4	-	10	1913	c.1544G>C	c.(1543-1545)cGa>cCa	p.R515P	FN1_ENST00000446046.1_Missense_Mutation_p.R515P|FN1_ENST00000359671.1_Missense_Mutation_p.R515P|FN1_ENST00000346544.3_Missense_Mutation_p.R515P|FN1_ENST00000336916.4_Missense_Mutation_p.R515P|FN1_ENST00000345488.5_Missense_Mutation_p.R515P|FN1_ENST00000357009.2_Missense_Mutation_p.R515P|FN1_ENST00000357867.4_Missense_Mutation_p.R515P|FN1_ENST00000421182.1_Missense_Mutation_p.R515P|FN1_ENST00000432072.2_Missense_Mutation_p.R515P|FN1_ENST00000356005.4_Missense_Mutation_p.R515P|FN1_ENST00000443816.1_Missense_Mutation_p.R515P|FN1_ENST00000426059.1_Missense_Mutation_p.R515P|FN1_ENST00000323926.6_Missense_Mutation_p.R515P			P02751	FINC_HUMAN	fibronectin 1	515	Collagen-binding.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCATACCTCGAAGCTGCGA	0.453000													18	102					0	0	1	0	0
GSTT1	2952	broad.mit.edu	37	22	24376861	24376861	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:24376861G>C	ENST00000248935.5	-	4	541	c.489C>G	c.(487-489)atC>atG	p.I163M	GSTT1_ENST00000439996.2_Missense_Mutation_p.I45M	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	163	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	CAGCTAAGGAGATGTGAGGAC	0.582000									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				7	42					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867383	7867383	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:7867383C>T	ENST00000264669.5	-	2	950	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	272					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTTTGGTGTTCATCCACTTTT	0.368000													19	94					0	0	1	0	0
PTPRD	5789	broad.mit.edu	37	9	8501008	8501008	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:8501008C>G	ENST00000381196.4	-	21	2417	c.1874G>C	c.(1873-1875)aGt>aCt	p.S625T	PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.S612T|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000358503.5_Missense_Mutation_p.S612T|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.S625T|PTPRD_ENST00000356435.5_Missense_Mutation_p.S625T|PTPRD_ENST00000397606.3_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	625	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TACCAAAATACTAGTGGAACT	0.443000										TSP Lung(15;0.13)			12	58					0	0	1	0	0
CNGA2	1260	broad.mit.edu	37	X	150912862	150912862	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:150912862C>G	ENST00000329903.4	+	6	1920	c.1887C>G	c.(1885-1887)ctC>ctG	p.L629L		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	629					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					AGCAGAAGCTCAAGCAGCGCA	0.552000													27	56					0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146463793	146463793	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:146463793C>T	ENST00000515385.1	+	4	1260	c.718C>T	c.(718-720)Cag>Tag	p.Q240*	SMAD1_ENST00000302085.4_Nonsense_Mutation_p.Q240*|SMAD1_ENST00000394092.2_Nonsense_Mutation_p.Q240*			Q15797	SMAD1_HUMAN	SMAD family member 1	240					BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					GGATGGCTCTCAGCCGATGGA	0.468000													13	65					0	0	1	0	0
TUBA3E	112714	broad.mit.edu	37	2	130951671	130951671	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:130951671C>T	ENST00000312988.7	-	4	844	c.744G>A	c.(742-744)ctG>ctA	p.L248L		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	248					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					AGTCCACATTCAGGGCCCCAT	0.592000													9	195					0	0	1	0	0
TECPR2	9895	broad.mit.edu	37	14	102898452	102898452	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:102898452G>C	ENST00000359520.7	+	8	1630	c.1404G>C	c.(1402-1404)aaG>aaC	p.K468N	TECPR2_ENST00000558678.1_Missense_Mutation_p.K468N	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	468	Poly-Lys.						protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						ggaagaagaagaagaagaaga	0.517000													3	12					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169524545	169524545	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:169524545C>G	ENST00000367796.3	-	7	1194	c.993G>C	c.(991-993)aaG>aaC	p.K331N	F5_ENST00000546081.1_Missense_Mutation_p.K194N|F5_ENST00000367797.3_Missense_Mutation_p.K331N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	331					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)	TCCTGGTTTTCTTTGGGCAGT	0.408000													12	66					0	0	1	0	0
MARCO	8685	broad.mit.edu	37	2	119699940	119699940	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:119699940C>T	ENST00000327097.4	+	1	199	c.64C>T	c.(64-66)Cac>Tac	p.H22Y	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	22					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGCTGCTTTTCACCAAATTGC	0.423000													10	53					0	0	1	0	0
DDX6	1656	broad.mit.edu	37	11	118625475	118625475	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:118625475C>G	ENST00000264018.4	-	13	1703	c.1398G>C	c.(1396-1398)aaG>aaC	p.K466N	DDX6_ENST00000534980.1_Missense_Mutation_p.K466N|DDX6_ENST00000526070.2_Missense_Mutation_p.K466N	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	466	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		CATACAGGCTCTTATCAATGT	0.423000			T	IGH@	B-NHL								19	88					0	0	1	0	0
ACBD7	414149	broad.mit.edu	37	10	15121001	15121001	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:15121001C>G	ENST00000356189.5	-	2	98	c.51G>C	c.(49-51)ctG>ctC	p.L17L	ACBD7_ENST00000496890.1_5'UTR	NM_001039844.2	NP_001034933.1	Q8N6N7	ACBD7_HUMAN	acyl-CoA binding domain containing 7	17	ACB.						fatty-acyl-CoA binding			endometrium(1)|lung(4)|prostate(1)	6						GTCTTGCTTTCAGCTTCCTCA	0.358000													22	89					0	0	1	0	0
RUSC2	9853	broad.mit.edu	37	9	35555644	35555644	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:35555644G>C	ENST00000455600.1	+	3	3171	c.2602G>C	c.(2602-2604)Gag>Cag	p.E868Q		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	868						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCCGAGCAGAGAGCCTGGC	0.627000													8	46					0	0	1	0	0
CRIM1	51232	broad.mit.edu	37	2	36583686	36583686	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:36583686G>C	ENST00000280527.2	+	1	618	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	84	IGFBP N-terminal.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TACGGAACCTGCGACCGGGGG	0.692000													9	61					0	0	1	0	0
BIRC2	329	broad.mit.edu	37	11	102239153	102239153	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:102239153C>G	ENST00000227758.2	+	6	2639	c.1240C>G	c.(1240-1242)Caa>Gaa	p.Q414E	BIRC2_ENST00000530675.1_Missense_Mutation_p.Q365E|BIRC2_ENST00000532672.1_Missense_Mutation_p.Q393E|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	414				Q -> L (in Ref. 2; AAC50372).	cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		ACAAACAGTTCAAAGTAAAAT	0.373000													25	113					0	0	1	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100551506	100551506	+	RNA	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:100551506G>A	ENST00000397112.4	-	0	1692					NR_036632.1															large_intestine(1)|lung(3)	4						CAGCTGAGTTGAAAAATGCCA	0.612000													8	30					0	0	1	0	0
MAS1	4142	broad.mit.edu	37	6	160328242	160328242	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:160328242C>T	ENST00000252660.4	+	1	269	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 oncogene	85					anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		TCTGTATTTTCATCTTGTCTA	0.428000													37	195					0	0	1	0	0
RNF25	64320	broad.mit.edu	37	2	219532820	219532820	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:219532820G>A	ENST00000295704.2	-	4	709	c.269C>T	c.(268-270)tCa>tTa	p.S90L		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	90	RWD.				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGTTCATCTGAAAGTCCTCG	0.493000													58	386					0	0	1	0	0
BCKDHA	593	broad.mit.edu	37	19	41928903	41928903	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:41928903G>C	ENST00000457836.2	+	8	1010	c.1005G>C	c.(1003-1005)agG>agC	p.R335S	CTC-435M10.3_ENST00000540732.1_Splice_Site_p.R366S|BCKDHA_ENST00000269980.2_Splice_Site_p.R332S|BCKDHA_ENST00000595085.1_Splice_Site_p.R366S			P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	332					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						CCCTGTGCAGGATCGGGCACC	0.627000													3	10					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31022853	31022853	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:31022853C>T	ENST00000375687.4	+	13	2762	c.2338C>T	c.(2338-2340)Cag>Tag	p.Q780*	ASXL1_ENST00000306058.5_Nonsense_Mutation_p.Q775*	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	780					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.Q780*(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGAGCAGCCTCAGTTGCATCC	0.567000			"""F, N, Mis"""		"""MDS, CMML"""								12	55					0	0	1	0	0
PDE1B	5153	broad.mit.edu	37	12	54966478	54966478	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:54966478G>A	ENST00000243052.3	+	7	1124	c.688G>A	c.(688-690)Gat>Aat	p.D230N	PDE1B_ENST00000550620.1_Missense_Mutation_p.D210N|PDE1B_ENST00000538346.1_Missense_Mutation_p.D189N|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	230	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						CCACGCAGCCGATGTTACCCA	0.517000													65	340					0	0	1	0	0
TPCN1	53373	broad.mit.edu	37	12	113703991	113703991	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:113703991G>A	ENST00000550785.1	+	5	629	c.460G>A	c.(460-462)Gag>Aag	p.E154K	TPCN1_ENST00000335509.6_Missense_Mutation_p.E82K|TPCN1_ENST00000541517.1_Missense_Mutation_p.E154K|TPCN1_ENST00000392569.4_Missense_Mutation_p.E14K	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	82						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						TCAGGAAGGCGAGAACAACGA	0.582000													26	144					0	0	1	0	0
POT1	25913	broad.mit.edu	37	7	124491967	124491967	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:124491967G>A	ENST00000357628.3	-	11	1506	c.908C>T	c.(907-909)tCa>tTa	p.S303L	POT1_ENST00000393329.1_Missense_Mutation_p.S172L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	303					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GATAACATCTGAATGCTGATT	0.294000													9	47					0	0	1	0	0
SYK	6850	broad.mit.edu	37	9	93657847	93657847	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:93657847C>T	ENST00000375754.4	+	14	2021	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	SYK_ENST00000375746.1_Missense_Mutation_p.R625W|SYK_ENST00000375751.4_Missense_Mutation_p.R602W|SYK_ENST00000375747.1_Missense_Mutation_p.R602W	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	625	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						AGTGGAACTGCGGCTGCGCAA	0.493000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""						OREG0019297	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	70					0	0	1	0	0
PANK4	55229	broad.mit.edu	37	1	2442190	2442190	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:2442190G>A	ENST00000378466.3	-	16	1877	c.1865C>T	c.(1864-1866)gCa>gTa	p.A622V	PANK4_ENST00000435556.3_Missense_Mutation_p.A583V	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	622					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGTTATCTGCGAAAATTAA	0.532000													15	92					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392389	178392389	+	Silent	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:178392389T>C	ENST00000320129.3	+	5	1287	c.984T>C	c.(982-984)taT>taC	p.Y328Y	ZNF454_ENST00000519564.1_Silent_p.Y328Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		AGAAACCCTATAAATGCAATG	0.393000													10	53					0	0	1	0	0
FKBP6	8468	broad.mit.edu	37	7	72755313	72755313	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:72755313T>A	ENST00000252037.4	+	7	894	c.825T>A	c.(823-825)ttT>ttA	p.F275L	FKBP6_ENST00000431982.2_Missense_Mutation_p.F270L|FKBP6_ENST00000413573.2_Missense_Mutation_p.F245L	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	275					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCCGGGATTTTCTAGTTCGAG	0.458000													39	154					0	0	1	0	0
ATP8A2	51761	broad.mit.edu	37	13	26129156	26129156	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:26129156G>C	ENST00000381655.2	+	13	1355	c.1213G>C	c.(1213-1215)Gac>Cac	p.D405H	ATP8A2_ENST00000255283.8_Missense_Mutation_p.D365H	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	365					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TATAGGAAATGACACTCCTGC	0.413000													9	75					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25072346	25072346	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:25072346C>G	ENST00000381989.3	-	6	604	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	167					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		ACCACAGCTTCCTGGCCTCCC	0.498000													7	34					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962176	165962176	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:165962176C>T	ENST00000512596.1	+	3	1168	c.952C>T	c.(952-954)Cga>Tga	p.R318*	TRIM60_ENST00000341062.5_Nonsense_Mutation_p.R318*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.R318*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	318	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AAAAGCTGTGCGATATGAAAG	0.408000													18	110					0	0	1	0	0
KIAA1804	84451	broad.mit.edu	37	1	233497931	233497931	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:233497931C>G	ENST00000366624.3	+	5	1705	c.1444C>G	c.(1444-1446)Ctg>Gtg	p.L482V	MLK4_ENST00000366623.3_Missense_Mutation_p.L482V	NM_032435.2	NP_115811.2																					ACTTAACATTCTGATATTCCA	0.512000													14	74					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38993165	38993165	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:38993165G>A	ENST00000355481.4	+	48	7764	c.7633G>A	c.(7633-7635)Gag>Aag	p.E2545K	RYR1_ENST00000359596.3_Missense_Mutation_p.E2545K|RYR1_ENST00000360985.3_Missense_Mutation_p.E2545K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2545	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CAGCACCACCGAGATGGCGCT	0.652000													4	13					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140348889	140348889	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:140348889C>G	ENST00000289269.5	+	1	3070	c.2538C>G	c.(2536-2538)ctC>ctG	p.L846L	PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		846					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATTATTCTCAAAAATGAGG	0.498000													3	33					0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141331125	141331125	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:141331125G>C	ENST00000231484.3	-	2	4121	c.2911C>G	c.(2911-2913)Cag>Gag	p.Q971E		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	971					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATTGGCCCTGATGCAGCAAG	0.532000											OREG0016877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	104					0	0	1	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701813	56701813	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:56701813G>C	ENST00000586855.2	-	5	1184	c.871C>G	c.(871-873)Ctg>Gtg	p.L291V	ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.L291V			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	291					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAGATTCAGAGCATCTCCT	0.522000													4	200					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214169998	214169998	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:214169998G>A	ENST00000366958.4	+	2	728	c.120G>A	c.(118-120)acG>acA	p.T40T	PROX1_ENST00000261454.4_Silent_p.T40T|PROX1_ENST00000498508.2_Silent_p.T40T|PROX1_ENST00000435016.1_Silent_p.T40T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	40					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAAGAGCAACGTTTTTTAGTG	0.483000													14	62					0	0	1	0	0
EGR3	1960	broad.mit.edu	37	8	22548691	22548691	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:22548691G>C	ENST00000317216.2	-	2	816	c.459C>G	c.(457-459)ctC>ctG	p.L153L	EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000524088.1_5'UTR|EGR3_ENST00000522910.1_Silent_p.L115L|RP11-459E5.1_ENST00000523627.1_RNA	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	153					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		GCTCTGAGTAGAGGTCGCCGC	0.647000													8	32					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13418988	13418988	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:13418988C>T	ENST00000254508.5	-	9	1202	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	374					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGAACTTGTCAAAAACTTCG	0.557000													34	173					0	0	1	0	0
KIRREL2	84063	broad.mit.edu	37	19	36350381	36350381	+	Splice_Site	SNP	A	A	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:36350381A>T	ENST00000360202.5	+	5	720		c.e5-1		KIRREL2_ENST00000592409.1_Splice_Site|KIRREL2_ENST00000262625.7_Splice_Site|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000347900.6_Splice_Site	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)						cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTTCCCTCCAGACCCTGCTG	0.537000													7	40					0	0	1	0	0
HDLBP	3069	broad.mit.edu	37	2	242203922	242203922	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:242203922C>G	ENST00000391975.1	-	4	402	c.175G>C	c.(175-177)Gaa>Caa	p.E59Q	HDLBP_ENST00000391976.2_Missense_Mutation_p.E59Q|HDLBP_ENST00000427183.2_Missense_Mutation_p.E95Q|HDLBP_ENST00000310931.4_Missense_Mutation_p.E59Q	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	59					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCAGAGGGTTCCTGGGCACTT	0.478000													32	147					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413748	121413748	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:121413748C>G	ENST00000393667.3	-	13	5732	c.5622G>C	c.(5620-5622)gaG>gaC	p.E1874D	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1869D	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1869					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		AGGTATTTTTCTCATTTTCTA	0.363000													38	193					0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146026785	146026785	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:146026785G>C	ENST00000296577.4	+	3	647	c.132G>C	c.(130-132)caG>caC	p.Q44H	ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	44					interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					TTACACCCCAGAGCAAAATAG	0.328000													17	92					0	0	1	0	0
TUBAL3	79861	broad.mit.edu	37	10	5442874	5442874	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:5442874G>C	ENST00000380419.3	-	2	217	c.180C>G	c.(178-180)ttC>ttG	p.F60L	TUBAL3_ENST00000479328.1_Missense_Mutation_p.F20L	NM_024803.2	NP_079079.1	A6NHL2	TBAL3_HUMAN	tubulin, alpha-like 3	60					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						TTGTCTCACAGAAGAAGGTAT	0.433000													24	133					0	0	1	0	0
TMEM140	55281	broad.mit.edu	37	7	134849592	134849592	+	Silent	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:134849592C>A	ENST00000275767.3	+	2	622	c.399C>A	c.(397-399)ctC>ctA	p.L133L	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140							integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						GCCTGGGCCTCTTCCTCTCCT	0.627000													9	40					1.12685e-05	1.14773e-05	1	1	0
KRI1	65095	broad.mit.edu	37	19	10670161	10670161	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:10670161C>G	ENST00000312962.6	-	12	1105	c.1086G>C	c.(1084-1086)ctG>ctC	p.L362L	KRI1_ENST00000361821.5_Silent_p.L358L	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	362	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCTTCCTCTTCAGGTTCTTCA	0.592000													18	92					0	0	1	0	0
APIP	51074	broad.mit.edu	37	11	34912058	34912058	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:34912058C>T	ENST00000395787.3	-	3	414	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Missense_Mutation_p.R84Q	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	67					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			TACCTGAATTCGTTCCTTTTG	0.313000													7	53					0	0	1	0	0
MIR370	442915	broad.mit.edu	37	14	101377493	101377493	+	RNA	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:101377493C>A	ENST00000362135.1	+	0	18					NR_029863.1																						gaagccaggtcacgtctctgc	0.597000													7	58					5.18039e-06	5.28865e-06	1	1	0
ALS2	57679	broad.mit.edu	37	2	202625889	202625889	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:202625889G>C	ENST00000264276.6	-	4	1200	c.828C>G	c.(826-828)ctC>ctG	p.L276L	ALS2_ENST00000467448.1_Silent_p.L276L	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	276					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TGGAGGGGCTGAGAGCAGTGC	0.453000													18	89					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41551100	41551100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:41551100C>T	ENST00000263253.7	+	17	4463	c.3244C>T	c.(3244-3246)Cag>Tag	p.Q1082*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1082	Bromo.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGTGGACCCTCAGCTTTTAGG	0.393000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				35	226					0	0	1	0	0
HTR5A	3361	broad.mit.edu	37	7	154875957	154875957	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:154875957G>A	ENST00000287907.2	+	2	1410	c.834G>A	c.(832-834)caG>caA	p.Q278Q	HTR5A_ENST00000486819.1_3'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	278						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGCGGGAGCAGAAGGAGCAGC	0.612000													11	54					0	0	1	0	0
INTS3	65123	broad.mit.edu	37	1	153733339	153733339	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:153733339G>A	ENST00000456435.1	+	13	1922	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.V452M|INTS3_ENST00000318967.2_Missense_Mutation_p.V452M|INTS3_ENST00000512605.1_Missense_Mutation_p.V246M			Q68E01	INT3_HUMAN	integrator complex subunit 3	453					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGGGCCACGTGCGGCAGGG	0.507000													4	131					0	0	1	0	0
SLC7A2	6542	broad.mit.edu	37	8	17419460	17419460	+	Silent	SNP	C	C	T	rs148420262		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:17419460C>T	ENST00000470360.1	+	12	1746	c.1629C>T	c.(1627-1629)ctC>ctT	p.L543L	SLC7A2_ENST00000522656.1_Silent_p.L504L|SLC7A2_ENST00000398090.3_Silent_p.L543L|SLC7A2_ENST00000004531.10_Silent_p.L544L|SLC7A2_ENST00000494857.1_Silent_p.L504L			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	504					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	CAGCTTTCCTCGTGTTGGGCC	0.522000													45	175					0	0	1	0	0
KDM3A	55818	broad.mit.edu	37	2	86676939	86676939	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:86676939G>C	ENST00000409556.1	+	4	561	c.196G>C	c.(196-198)Gaa>Caa	p.E66Q	KDM3A_ENST00000542128.1_Intron|KDM3A_ENST00000312912.5_Missense_Mutation_p.E66Q|KDM3A_ENST00000409064.1_Missense_Mutation_p.E66Q			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	66					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGTGTGTGTGGAATTTGATGG	0.388000													15	70					0	0	1	0	0
CNGA1	1259	broad.mit.edu	37	4	47944133	47944133	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:47944133G>A	ENST00000402813.3	-	8	831	c.689C>T	c.(688-690)tCg>tTg	p.S230L	CNGA1_ENST00000358519.4_Missense_Mutation_p.S161L|CNGA1_ENST00000420489.2_Missense_Mutation_p.S161L|CNGA1_ENST00000544810.1_Missense_Mutation_p.S161L|CNGA1_ENST00000514170.1_Missense_Mutation_p.S161L			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	161					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TGTGTTTCCCGAGGGATCAAT	0.338000													30	54					0	0	1	0	0
GLOD4	51031	broad.mit.edu	37	17	681910	681910	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:681910G>C	ENST00000536578.1	-	3	357	c.65C>G	c.(64-66)tCt>tGt	p.S22C	GLOD4_ENST00000301328.5_Intron|GLOD4_ENST00000301329.6_Intron			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	0						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCCTAAAGGAGATTTTAAGAA	0.403000													10	55					0	0	1	0	0
DAAM1	23002	broad.mit.edu	37	14	59782054	59782054	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:59782054C>G	ENST00000395125.1	+	3	353	c.330C>G	c.(328-330)ctC>ctG	p.L110L	DAAM1_ENST00000351081.1_Silent_p.L110L|DAAM1_ENST00000360909.3_Silent_p.L110L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	110	GBD/FH3.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding	p.L110L(1)		breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTGATCAGCTCAATTCCATGG	0.383000													16	133					0	0	1	0	0
PNN	5411	broad.mit.edu	37	14	39644534	39644534	+	Missense_Mutation	SNP	G	G	C	rs143676445		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:39644534G>C	ENST00000216832.4	+	1	118	c.51G>C	c.(49-51)gaG>gaC	p.E17D	RP11-407N17.4_ENST00000556537.1_lincRNA|PNN_ENST00000556530.1_Missense_Mutation_p.E17D|PNN_ENST00000553331.1_Missense_Mutation_p.E17D	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	17	Necessary for interaction with RNPS1.|Necessary for interactions with KRT8, KRT18 and KRT19.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AGGCCAAAGAGAGTCTTAAGA	0.572000													7	29					0	0	1	0	0
CLASP2	23122	broad.mit.edu	37	3	33614643	33614643	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:33614643G>A	ENST00000399362.4	-	26	3035	c.2682C>T	c.(2680-2682)ctC>ctT	p.L894L	CLASP2_ENST00000461133.3_Silent_p.L653L|CLASP2_ENST00000468888.2_Silent_p.L895L|CLASP2_ENST00000480013.1_Silent_p.L674L|CLASP2_ENST00000359576.5_Silent_p.L886L|CLASP2_ENST00000307312.7_Silent_p.L375L|CLASP2_ENST00000539981.1_Silent_p.L664L	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	895										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCAGACCTAGGAGGCCTTCTT	0.383000													5	217					0	0	1	0	0
SERINC2	347735	broad.mit.edu	37	1	31906004	31906004	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:31906004G>A	ENST00000373710.1	+	10	1504	c.1231G>A	c.(1231-1233)Gtc>Atc	p.V411I	SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.V406I|SERINC2_ENST00000536384.1_Missense_Mutation_p.V406I|SERINC2_ENST00000373709.3_Missense_Mutation_p.V402I	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	403						integral to membrane		p.V402F(1)		cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTCACTGCACGTCATGATGAC	0.627000													12	56					0	0	1	0	0
CD5	921	broad.mit.edu	37	11	60889221	60889221	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:60889221T>A	ENST00000347785.3	+	6	1110	c.944T>A	c.(943-945)gTg>gAg	p.V315E		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	315	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TGGGAGGAGGTGTGCCGGGAG	0.647000													14	41					0	0	1	0	0
DAGLA	747	broad.mit.edu	37	11	61508640	61508640	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:61508640G>A	ENST00000257215.5	+	19	2106	c.1990G>A	c.(1990-1992)Gag>Aag	p.E664K		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	664					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TCAGGTGCTGGAGAACTACAA	0.632000													15	57					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31323370	31323370	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:31323370C>G	ENST00000412585.2	-	4	648		c.e4-1			NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TTTGGGGGGTCTGATGGGAAG	0.577000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				11	144					0	0	1	0	0
TRBV6-8	28599	broad.mit.edu	37	7	142124314	142124314	+	RNA	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:142124314C>T	ENST00000390376.2	-	0	163																											TGGGTCTTGTCGATACCAGGA	0.488000													28	139					0	0	1	0	0
TANC2	26115	broad.mit.edu	37	17	61499156	61499156	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:61499156T>A	ENST00000424789.2	+	25	5817	c.5813T>A	c.(5812-5814)gTc>gAc	p.V1938D	TANC2_ENST00000389520.4_Missense_Mutation_p.V1948D|RP11-269G24.3_ENST00000583552.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1938							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTGGAGCGAGTCAGCCAGGCC	0.562000													12	73					0	0	1	0	0
GPR61	83873	broad.mit.edu	37	1	110086039	110086039	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:110086039C>T	ENST00000527748.1	+	2	1078	c.395C>T	c.(394-396)tCg>tTg	p.S132L	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	132						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCATCCTCTCGGTGTCAGCC	0.607000													21	97					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82909636	82909636	+	Silent	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:82909636C>A	ENST00000393389.3	+	2	1106	c.174C>A	c.(172-174)ctC>ctA	p.L58L	ANKRD42_ENST00000393392.2_Intron|ANKRD42_ENST00000533342.1_Silent_p.L58L|ANKRD42_ENST00000528722.1_5'UTR|ANKRD42_ENST00000526731.1_Silent_p.L58L|ANKRD42_ENST00000260047.6_Silent_p.L58L|ANKRD42_ENST00000531895.1_Silent_p.L58L			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	46										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						TTGATGTTCTCCATAAGTTTA	0.398000													6	16					0.00198382	0.00200203	1	1	0
CROT	54677	broad.mit.edu	37	7	86998691	86998691	+	Splice_Site	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:86998691G>C	ENST00000331536.3	+	7	732		c.e7-1		CROT_ENST00000419147.2_Splice_Site|CROT_ENST00000442291.1_Splice_Site	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TCTGTTTCCAGAGAGTGAAGG	0.418000													21	116					0	0	1	0	0
PCDHGA8	9708	broad.mit.edu	37	5	140773778	140773778	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:140773778G>C	ENST00000398604.2	+	1	1398	c.1398G>C	c.(1396-1398)ctG>ctC	p.L466L	PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACAACCTGAGAGGAGCCT	0.552000													6	34					0	0	1	0	0
LRRC15	131578	broad.mit.edu	37	3	194081015	194081015	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:194081015G>C	ENST00000347624.3	-	2	843	c.758C>G	c.(757-759)tCc>tGc	p.S253C	LRRC15_ENST00000428839.1_Missense_Mutation_p.S259C|LRRC15_ENST00000439944.2_Missense_Mutation_p.S259C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	253						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		GTGGTTGTTGGACAGGTAGAG	0.552000													16	61					0	0	1	0	0
NPM2	10361	broad.mit.edu	37	8	21892021	21892021	+	Splice_Site	SNP	A	A	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:21892021A>G	ENST00000397940.1	+	7	1547	c.532A>G	c.(532-534)Aaa>Gaa	p.K178E	NPM2_ENST00000381530.5_Splice_Site_p.E122G|NPM2_ENST00000521157.1_Splice_Site_p.K178E|NPM2_ENST00000518119.1_Splice_Site_p.K178E|NPM2_ENST00000289820.6_Splice_Site_p.K178E			Q86SE8	NPM2_HUMAN	nucleophosmin/nucleoplasmin 2	178	Poly-Lys.				chromatin remodeling|embryo development|oocyte differentiation|positive regulation of meiosis|regulation of exit from mitosis|single fertilization	cytoplasmic chromatin|nuclear chromatin	histone binding|nucleic acid binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				Colorectal(74;8.48e-05)|READ - Rectum adenocarcinoma(5;0.0276)|COAD - Colon adenocarcinoma(73;0.0618)		TGGTTCCCAGAAAAAAAAGCT	0.408000													40	195					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51827926	51827926	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:51827926C>G	ENST00000251076.5	-	13	2657	c.2370G>C	c.(2368-2370)ctG>ctC	p.L790L	DMXL2_ENST00000543779.2_Silent_p.L790L|DMXL2_ENST00000449909.3_Silent_p.L790L	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	790						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GATAGAGTCTCAGATTTTTGC	0.358000													19	76					0	0	1	0	0
ERC1	23085	broad.mit.edu	37	12	1289715	1289715	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:1289715C>G	ENST00000397203.2	+	9	2153	c.1747C>G	c.(1747-1749)Ctt>Gtt	p.L583V	ERC1_ENST00000360905.4_Missense_Mutation_p.L583V|ERC1_ENST00000355446.5_Missense_Mutation_p.L583V|ERC1_ENST00000546231.2_Missense_Mutation_p.L583V|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.L583V|ERC1_ENST00000543086.3_Missense_Mutation_p.L555V			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	583					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	p.L583I(1)		NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GATTGAAAATCTTCAAGAGCA	0.368000													15	60					0	0	1	0	0
NTN5	126147	broad.mit.edu	37	19	49174183	49174183	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:49174183C>G	ENST00000270235.4	-	2	156	c.61G>C	c.(61-63)Gat>Cat	p.D21H	SEC1P_ENST00000430145.2_RNA	NM_145807.1	NP_665806.1	Q8WTR8	NET5_HUMAN	netrin 5	21						extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	10						CCCTGTGGATCGTAGCATGGG	0.677000													9	26					0	0	1	0	0
CYP2R1	120227	broad.mit.edu	37	11	14899843	14899843	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:14899843C>T	ENST00000532378.1	-	6	1486	c.632G>A	c.(631-633)gGa>gAa	p.G211E	CYP2R1_ENST00000334636.5_Splice_Site_p.G444E			Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	444					hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ATGTCTTCTTCCTAAACAGAA	0.323000													13	43					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117282514	117282514	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:117282514G>C	ENST00000003084.6	+	23	3872	c.3740G>C	c.(3739-3741)gGa>gCa	p.G1247A	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.G1186A	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1247	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GGAAGAACTGGATCAGGGAAG	0.398000									Cystic Fibrosis				7	77					0	0	1	0	0
MFAP3	4238	broad.mit.edu	37	5	153432740	153432740	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:153432740G>A	ENST00000436816.1	+	3	775	c.556G>A	c.(556-558)Gag>Aag	p.E186K	MFAP3_ENST00000322602.5_Missense_Mutation_p.E186K|MFAP3_ENST00000439768.2_Missense_Mutation_p.E40K	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	186						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		GGCTATCAATGAGTTCTTTAG	0.458000													8	73					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234436214	234436214	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:234436214C>G	ENST00000251722.6	-	13	1678	c.1561G>C	c.(1561-1563)Gat>Cat	p.D521H	USP40_ENST00000427112.2_Missense_Mutation_p.D521H|USP40_ENST00000450966.1_Missense_Mutation_p.D533H			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	521					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TTTGCAGAATCACATTCTGCC	0.378000													14	21					0	0	1	0	0
FGF16	8823	broad.mit.edu	37	X	76709728	76709728	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:76709728G>T	ENST00000439435.1	+	1	81	c.81G>T	c.(79-81)atG>atT	p.M27I				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						AGGAATGAATGAGCGAGGAGA	0.428000													5	7					0.00116845	0.00118098	1	1	0
CACNA1B	774	broad.mit.edu	37	9	140878631	140878631	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:140878631C>G	ENST00000371372.1	+	13	1843	c.1698C>G	c.(1696-1698)atC>atG	p.I566M	CACNA1B_ENST00000371363.1_Missense_Mutation_p.I566M|CACNA1B_ENST00000371355.4_Missense_Mutation_p.I567M|CACNA1B_ENST00000277551.2_Missense_Mutation_p.I566M|CACNA1B_ENST00000371357.1_Missense_Mutation_p.I567M|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	566					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGGCGGCCATCAAGCCGGGAA	0.617000													4	8					0	0	1	0	0
HAVCR1	26762	broad.mit.edu	37	5	156476141	156476141	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:156476141G>A	ENST00000339252.3	-	4	1221	c.689C>T	c.(688-690)tCt>tTt	p.S230F	HAVCR1_ENST00000522693.1_Missense_Mutation_p.S230F|HAVCR1_ENST00000425854.1_Missense_Mutation_p.S230F|HAVCR1_ENST00000523175.1_Missense_Mutation_p.S230F|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000544197.1_Missense_Mutation_p.S230F	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	225					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGTGAAGATGGTGAAGT	0.448000													13	89					0	0	1	0	0
DDX52	11056	broad.mit.edu	37	17	35974371	35974371	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:35974371C>G	ENST00000349699.2	-	15	1813	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N	DDX52_ENST00000394367.3_Missense_Mutation_p.K482N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	590	Lys-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CTACTTTCTTCTTGCTGTTCT	0.323000													14	89					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136141832	136141832	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:136141832C>T	ENST00000383202.2	-	17	1961	c.1705G>A	c.(1705-1707)Gaa>Aaa	p.E569K	STAG1_ENST00000536929.1_Missense_Mutation_p.E153K|STAG1_ENST00000236698.5_Missense_Mutation_p.E569K|STAG1_ENST00000434713.2_Missense_Mutation_p.E343K	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	569					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ATAAAATGTTCAGTCAATTTG	0.294000													5	36					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23793809	23793809	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:23793809C>T	ENST00000546136.1	-	7	917	c.915G>A	c.(913-915)ctG>ctA	p.L305L	SOX5_ENST00000451604.2_Silent_p.L318L|SOX5_ENST00000541536.1_Silent_p.L305L|SOX5_ENST00000537393.1_Silent_p.L283L|SOX5_ENST00000545921.1_Silent_p.L308L|SOX5_ENST00000381381.2_Silent_p.L305L|SOX5_ENST00000309359.1_Silent_p.L305L			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	318					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						TAGTTGGGATCAGCTGAACAG	0.473000													8	51					0	0	1	0	0
UTY	7404	broad.mit.edu	37	Y	15582006	15582006	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrY:15582006G>C	ENST00000331397.4	-	3	1327	c.320C>G	c.(319-321)tCa>tGa	p.S107*	UTY_ENST00000329134.5_Nonsense_Mutation_p.S107*|UTY_ENST00000382893.1_Nonsense_Mutation_p.S107*|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000382896.4_Nonsense_Mutation_p.S107*|UTY_ENST00000538878.1_Nonsense_Mutation_p.S107*|UTY_ENST00000540140.1_Nonsense_Mutation_p.S107*|UTY_ENST00000362096.4_Nonsense_Mutation_p.S107*|UTY_ENST00000545955.1_Nonsense_Mutation_p.S107*|UTY_ENST00000537580.1_Nonsense_Mutation_p.S107*	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	107					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						AATACCTTTTGAATAATCTTC	0.358000													5	21					0	0	1	0	0
PUF60	22827	broad.mit.edu	37	8	144900174	144900174	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:144900174G>C	ENST00000526683.1	-	8	1230	c.675C>G	c.(673-675)ttC>ttG	p.F225L	PUF60_ENST00000349157.6_Missense_Mutation_p.F208L|PUF60_ENST00000313352.7_Missense_Mutation_p.F165L|PUF60_ENST00000456095.2_Missense_Mutation_p.F196L|PUF60_ENST00000527197.1_Missense_Mutation_p.F179L|PUF60_ENST00000453551.2_Missense_Mutation_p.F182L|PUF60_ENST00000524570.1_5'UTR	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	225	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGATGCGGTTGAAGGCCCGTG	0.592000													7	35					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062581	66062581	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:66062581C>G	ENST00000327259.4	+	2	1008	c.864C>G	c.(862-864)ttC>ttG	p.F288L		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	288						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						CCTGGGTCTTCTGGCTCGTGT	0.697000													5	13					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179579878	179579878	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:179579878C>G	ENST00000589042.1	-	90	26259	c.26035G>C	c.(26035-26037)Gac>Cac	p.D8679H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D7435H|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D8362H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8362	Ig-like 69.						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)			TCTCTCTTGTCTTTATACCAA	0.458000													42	175					0	0	1	0	0
HLA-B	3106	broad.mit.edu	37	6	31323359	31323359	+	Silent	SNP	C	C	T	rs67709394		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:31323359C>T	ENST00000412585.2	-	4	658	c.630G>A	c.(628-630)aaG>aaA	p.K210K		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TCACGTGTGTCTTTGGGGGGT	0.587000									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				12	151					0	0	1	0	0
POLA2	23649	broad.mit.edu	37	11	65061653	65061653	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:65061653C>T	ENST00000265465.3	+	14	1805	c.1274C>T	c.(1273-1275)tCa>tTa	p.S425L	POLA2_ENST00000541089.1_Missense_Mutation_p.S217L|POLA2_ENST00000534785.1_3'UTR	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	425					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TTTGTCCCGTCATTGAGAGAT	0.512000													67	366					0	0	1	0	0
LARS	51520	broad.mit.edu	37	5	145524039	145524039	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:145524039C>A	ENST00000394434.2	-	17	1817	c.1651G>T	c.(1651-1653)Gaa>Taa	p.E551*	LARS_ENST00000510191.1_Nonsense_Mutation_p.E497*|LARS_ENST00000274562.9_Nonsense_Mutation_p.E524*|LARS_ENST00000545646.1_Nonsense_Mutation_p.E505*	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	551					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCTTACGTTTCCAGGTTCTTC	0.358000													15	63					1.52009e-12	1.57626e-12	1	1	0
ZNF254	9534	broad.mit.edu	37	19	24310134	24310134	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:24310134C>T	ENST00000357002.4	+	4	1447	c.1332C>T	c.(1330-1332)atC>atT	p.I444I	ZNF254_ENST00000342944.6_Silent_p.I359I	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	444					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				AAGCATTTATCTGGTCCTCAA	0.373000													10	72					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118582839	118582839	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:118582839G>A	ENST00000311085.8	+	43	9089	c.9009G>A	c.(9007-9009)atG>atA	p.M3003I	DMXL1_ENST00000539542.1_Missense_Mutation_p.M3024I|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	3003										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATGGAACAATGAAAATGAGAA	0.353000													16	106					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77493146	77493146	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:77493146C>G	ENST00000238647.3	-	1	1888	c.990G>C	c.(988-990)aaG>aaC	p.K330N		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	330						nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						AGCCGGGCCTCTTACCACCAG	0.677000													4	20					0	0	1	0	0
RPGRIP1L	23322	broad.mit.edu	37	16	53720391	53720391	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:53720391C>G	ENST00000262135.4	-	6	823	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.E244Q|RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.E244Q|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.E244Q	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	244					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AGAGATAACTCAATTTCATTT	0.358000													37	65					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26878699	26878699	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:26878699C>G	ENST00000381340.3	-	3	580		c.e3-1		ITPR2_ENST00000242737.5_Splice_Site	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2						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)					AAAAGGCAGTCTGTGACAAAC	0.418000													17	77					0	0	1	0	0
KIF9	64147	broad.mit.edu	37	3	47284604	47284604	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:47284604C>T	ENST00000335044.2	-	16	2003	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Missense_Mutation_p.R549Q|KIF9_ENST00000352910.4_Intron|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Missense_Mutation_p.R549Q|KIF9_ENST00000444589.2_Intron	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	549					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGAAGTTTCCCGGTCCCGCGA	0.517000													6	62					0	0	1	0	0
CSPG5	10675	broad.mit.edu	37	3	47619074	47619074	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:47619074C>T	ENST00000383738.2	-	2	2540	c.442G>A	c.(442-444)Gag>Aag	p.E148K	CSPG5_ENST00000264723.4_Missense_Mutation_p.E148K|CSPG5_ENST00000456150.1_Missense_Mutation_p.E10K	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	148					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCGCTGGCCTCTGTAGCCTCA	0.687000													11	64					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120422327	120422327	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:120422327C>T	ENST00000354960.3	-	20	2807	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	PDE5A_ENST00000394439.1_Missense_Mutation_p.E778K|PDE5A_ENST00000264805.5_Missense_Mutation_p.E788K|RP11-33B1.1_ENST00000498873.1_RNA	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	830	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	ATAAATACCTCATACAGTTGC	0.343000													16	78					0	0	1	0	0
SOS2	6655	broad.mit.edu	37	14	50671062	50671062	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:50671062C>G	ENST00000216373.5	-	2	427	c.153G>C	c.(151-153)ctG>ctC	p.L51L	SOS2_ENST00000543680.1_Silent_p.L51L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	51					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GCTGAAAAATCAGCTCTTCAA	0.353000													38	234					0	0	1	0	0
SLC39A7	7922	broad.mit.edu	37	6	33170401	33170401	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:33170401G>C	ENST00000374677.3	+	5	1237	c.864G>C	c.(862-864)aaG>aaC	p.K288N	SLC39A7_ENST00000463972.1_3'UTR|SLC39A7_ENST00000374675.3_Missense_Mutation_p.K288N	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	288						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GGGTTCAGAAGAGGCGAGGAG	0.493000													9	57					0	0	1	0	0
STAT3	6774	broad.mit.edu	37	17	40478169	40478169	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:40478169C>T	ENST00000264657.5	-	15	1642	c.1330G>A	c.(1330-1332)Gag>Aag	p.E444K	STAT3_ENST00000404395.3_Missense_Mutation_p.E444K|STAT3_ENST00000389272.3_Missense_Mutation_p.E346K|STAT3_ENST00000585517.1_Missense_Mutation_p.E444K|STAT3_ENST00000588969.1_Missense_Mutation_p.E444K	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	444					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGATACACCTCGGTCTCAAAG	0.522000									Hyperimmunoglobulin E Recurrent Infection Syndrome				13	56					0	0	1	0	0
DYX1C1	161582	broad.mit.edu	37	15	55710292	55710292	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:55710292C>G	ENST00000380679.1	-	9	1454	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	C15orf65_ENST00000570794.1_Intron|C15orf65_ENST00000569691.1_Intron|DYX1C1_ENST00000448430.2_Missense_Mutation_p.E363Q|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_001033560.1	NP_001028732.1	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	0					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		agcttgggctcagaggcctga	0.423000													7	48					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157361643	157361643	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:157361643C>G	ENST00000389413.3	-	20	2869	c.2766G>C	c.(2764-2766)cgG>cgC	p.R922R	PTPRN2_ENST00000389418.4_Silent_p.R951R|PTPRN2_ENST00000409483.1_Silent_p.R913R|PTPRN2_ENST00000389416.4_Silent_p.R934R|PTPRN2_ENST00000404321.2_Silent_p.R974R	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	951	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R951R(1)|p.R951Q(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGTGCCGCTCCGGCCTGCAC	0.557000													11	79					0	0	1	0	0
DHX36	170506	broad.mit.edu	37	3	154033931	154033931	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:154033931C>T	ENST00000496811.1	-	2	345	c.265G>A	c.(265-267)Gaa>Aaa	p.E89K	DHX36_ENST00000544526.1_Missense_Mutation_p.E89K|DHX36_ENST00000308361.6_Missense_Mutation_p.E89K|DHX36_ENST00000329463.5_Missense_Mutation_p.E89K	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	89						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCTCGTCGTTCATCCATGTGT	0.358000													7	43					0	0	1	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18435561	18435561	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:18435561C>T	ENST00000433979.1	+	2	662	c.546C>T	c.(544-546)ttC>ttT	p.F182F	PIK3C2G_ENST00000538779.1_Silent_p.F182F|PIK3C2G_ENST00000266497.5_Silent_p.F182F|RERGL_ENST00000541632.1_Intron|PIK3C2G_ENST00000535651.1_Silent_p.F182F	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	182					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTCATCCTTCTCAAGTGACT	0.353000													14	93					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141535745	141535745	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:141535745C>T	ENST00000264952.2	+	4	1652	c.1515C>T	c.(1513-1515)ttC>ttT	p.F505F		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	505	AGC-kinase C-terminal.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AGCAGTTCTTCAAAAACTTTG	0.448000													43	239					0	0	1	0	0
MAP4K1	11184	broad.mit.edu	37	19	39096346	39096346	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:39096346C>T	ENST00000591517.1	-	18	1253	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	MAP4K1_ENST00000589130.1_Missense_Mutation_p.E405K|MAP4K1_ENST00000396857.2_Missense_Mutation_p.E409K|MAP4K1_ENST00000423454.2_Missense_Mutation_p.E71K|MAP4K1_ENST00000586296.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	409					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CCAGGACCCTCGTCTGATGGA	0.622000													5	22					0	0	1	0	0
LBP	3929	broad.mit.edu	37	20	36997710	36997710	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:36997710C>T	ENST00000217407.2	+	10	1214	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	351					acute-phase response|cellular defense response|cellular response to lipoteichoic acid|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|detection of molecule of bacterial origin|innate immune response|lipid transport|lipopolysaccharide transport|lipopolysaccharide-mediated signaling pathway|macrophage activation involved in immune response|negative regulation of tumor necrosis factor production|opsonization|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of macrophage activation|positive regulation of respiratory burst involved in inflammatory response|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of tumor necrosis factor production|Toll signaling pathway	extracellular space	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|lipid binding|lipopolysaccharide binding|lipoteichoic acid binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(1)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				TCCTGAACTTCAGCCCTGGGA	0.537000													19	120					0	0	1	0	0
RGS6	9628	broad.mit.edu	37	14	72818856	72818856	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:72818856C>G	ENST00000553530.1	+	3	345	c.138C>G	c.(136-138)atC>atG	p.I46M	RGS6_ENST00000407322.4_Missense_Mutation_p.I46M|RGS6_ENST00000402788.2_Missense_Mutation_p.I46M|RGS6_ENST00000555571.1_Missense_Mutation_p.I46M|RGS6_ENST00000343854.6_Missense_Mutation_p.I46M|RGS6_ENST00000355512.6_Missense_Mutation_p.I46M|RGS6_ENST00000404301.2_Missense_Mutation_p.I46M|RGS6_ENST00000406236.4_Missense_Mutation_p.I46M|RGS6_ENST00000553525.1_Missense_Mutation_p.I46M|RGS6_ENST00000556437.1_Missense_Mutation_p.I46M	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	46	DEP.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		GTGTGCCCATCAGAACAGTCA	0.413000													5	34					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125652518	125652518	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:125652518C>T	ENST00000471874.2	-	3	680	c.656G>A	c.(655-657)tGa>tAa	p.*219*	RC3H2_ENST00000423239.2_Intron|RC3H2_ENST00000373670.1_Intron|RC3H2_ENST00000373665.2_Intron|RC3H2_ENST00000357244.2_Intron|RC3H2_ENST00000335387.5_Intron|RC3H2_ENST00000478216.1_5'UTR			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	0						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCTCAGGATTCACCGAGCTCC	0.363000													4	20					0	0	1	0	0
JRK	8629	broad.mit.edu	37	8	143746147	143746147	+	RNA	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:143746147C>T	ENST00000507178.2	-	0	1663									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				tgcctcccttcccgctacccc	0.642000													5	16					0	0	1	0	0
GLYATL1	92292	broad.mit.edu	37	11	58723231	58723231	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:58723231G>A	ENST00000300079.5	+	7	783	c.733G>A	c.(733-735)Gag>Aag	p.E245K	GLYATL1_ENST00000317391.4_Missense_Mutation_p.E214K|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	214						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GCTCGGCCCAGAGGGAGTCCC	0.532000													11	46					0	0	1	0	0
C10orf68	79741	broad.mit.edu	37	10	33000622	33000622	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:33000622G>A	ENST00000375030.2	+	10	1096	c.478G>A	c.(478-480)Gag>Aag	p.E160K	C10orf68_ENST00000375025.4_Missense_Mutation_p.E152K|C10orf68_ENST00000375028.3_Missense_Mutation_p.E128K			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	152										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGTGCAATTAGAGATTCAAGA	0.308000													15	77					0	0	1	0	0
NCOR2	9612	broad.mit.edu	37	12	124826499	124826499	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:124826499G>C	ENST00000356219.3	-	35	5234	c.5079C>G	c.(5077-5079)atC>atG	p.I1693M	NCOR2_ENST00000405201.1_Missense_Mutation_p.I1686M|NCOR2_ENST00000404621.1_Missense_Mutation_p.I1676M|NCOR2_ENST00000404121.2_Missense_Mutation_p.I1247M|NCOR2_ENST00000429285.2_Missense_Mutation_p.I1676M|NCOR2_ENST00000397355.1_Missense_Mutation_p.I1677M	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1694					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGTAGTCATTGATGATGGTCT	0.667000													6	70					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150001312	150001312	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:150001312C>T	ENST00000543571.1	-	5	2839	c.2292G>A	c.(2290-2292)tgG>tgA	p.W764*	LATS1_ENST00000253339.5_Nonsense_Mutation_p.W764*|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	764	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		GACGAACTACCCATTCATTGT	0.373000													19	110					0	0	1	0	0
ABCA1	19	broad.mit.edu	37	9	107553262	107553262	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:107553262G>C	ENST00000374736.3	-	44	6262	c.5868C>G	c.(5866-5868)ttC>ttG	p.F1956L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1956	ABC transporter 2.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TTAACATCTTGAAAGTTGATG	0.368000													29	157					0	0	1	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20505503	20505503	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:20505503C>G	ENST00000202677.7	-	29	3740	c.3733G>C	c.(3733-3735)Gag>Cag	p.E1245Q		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GAGGAGTACTCTGCACTTGGT	0.353000													4	13					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13386725	13386725	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:13386725C>T	ENST00000360228.5	-	24	3927	c.3928G>A	c.(3928-3930)Gac>Aac	p.D1310N	CACNA1A_ENST00000573710.2_Missense_Mutation_p.D1311N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1311					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TTCCAGAGGTCACGGAAGTAG	0.577000													7	38					0	0	1	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84506907	84506907	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:84506907G>A	ENST00000286744.5	+	7	891	c.667G>A	c.(667-669)Gat>Aat	p.D223N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D223N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	223						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTGTGCCGGCGATGGCTCCAC	0.517000													18	68					0	0	1	0	0
ZNF671	79891	broad.mit.edu	37	19	58232821	58232821	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:58232821C>T	ENST00000317398.6	-	4	728	c.633G>A	c.(631-633)caG>caA	p.Q211Q	AC003006.7_ENST00000599221.1_Intron|ZNF671_ENST00000335820.3_Silent_p.Q113Q|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGGGCTGGTTCTGGTGCTGGT	0.512000													14	104					0	0	1	0	0
ZCCHC6	79670	broad.mit.edu	37	9	88961239	88961239	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:88961239C>G	ENST00000375961.2	-	3	891	c.677G>C	c.(676-678)aGa>aCa	p.R226T	ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R226T|ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R226T|ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375947.1_Missense_Mutation_p.R59T			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	226					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AATGCAGTCTCTCTTCAGTCT	0.423000													21	99					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74425108	74425108	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:74425108C>T	ENST00000361742.3	+	4	782	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	ISLR2_ENST00000419208.1_Missense_Mutation_p.R5W|ISLR2_ENST00000453268.2_Missense_Mutation_p.R5W|ISLR2_ENST00000435464.1_Missense_Mutation_p.R5W|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Missense_Mutation_p.R5W|ISLR2_ENST00000565159.1_Missense_Mutation_p.R5W|ISLR2_ENST00000445793.1_Missense_Mutation_p.R5W	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	5					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTTCCCCCTTCGGGCCCTGTG	0.622000													9	31					0	0	1	0	0
TNNT2	7139	broad.mit.edu	37	1	201332521	201332521	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:201332521C>G	ENST00000509001.1	-	11	759	c.473G>C	c.(472-474)cGa>cCa	p.R158P	TNNT2_ENST00000360372.4_Missense_Mutation_p.R153P|TNNT2_ENST00000367315.2_Missense_Mutation_p.R158P|TNNT2_ENST00000367317.4_Missense_Mutation_p.R158P|TNNT2_ENST00000460780.1_5'UTR|TNNT2_ENST00000367320.2_Missense_Mutation_p.R128P|TNNT2_ENST00000236918.7_Missense_Mutation_p.R163P|TNNT2_ENST00000458432.2_Missense_Mutation_p.R170P|TNNT2_ENST00000367322.1_Missense_Mutation_p.R158P|TNNT2_ENST00000367318.5_Missense_Mutation_p.R158P|TNNT2_ENST00000421663.2_Missense_Mutation_p.R160P	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	168					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding	p.R158L(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						CTCCTCTCGTCGAGCCCTCTC	0.502000													20	115					0	0	1	0	0
EPO	2056	broad.mit.edu	37	7	100319611	100319611	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:100319611G>C	ENST00000252723.2	+	3	367	c.186G>C	c.(184-186)ttG>ttC	p.L62F		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	62					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	ACTGCAGCTTGAATGAGAATA	0.498000													14	67					0	0	1	0	0
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	52					0	0	1	0	0
STK19	8859	broad.mit.edu	37	6	31940164	31940164	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:31940164C>T	ENST00000375331.2	+	2	472	c.306C>T	c.(304-306)ttC>ttT	p.F102F	STK19_ENST00000375333.2_Silent_p.F102F|STK19_ENST00000463823.1_3'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	102						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CCTACCCCTTCCCCGGTACCA	0.587000													12	71					0	0	1	0	0
RASAL2	9462	broad.mit.edu	37	1	178433412	178433412	+	Splice_Site	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:178433412G>A	ENST00000448150.3	+	15	4037		c.e15-1		RASAL2_ENST00000367649.3_Splice_Site|RASAL2_ENST00000462775.1_Splice_Site	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTCTGATGCAGGTTCAGTCAC	0.468000													8	49					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867071	7867071	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:7867071C>G	ENST00000264669.5	-	2	1262	c.1126G>C	c.(1126-1128)Gag>Cag	p.E376Q	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	376					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTGCAGTACTCCATGACCCTG	0.438000													19	64					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141641528	141641528	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:141641528C>T	ENST00000389484.3	-	25	4998	c.4027G>A	c.(4027-4029)Gac>Aac	p.D1343N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1343					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)		GCTATCCAGTCGACTGTCAGG	0.478000										TSP Lung(27;0.18)			14	106					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137885986	137885986	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:137885986G>C	ENST00000260803.4	-	5	804	c.651C>G	c.(649-651)ctC>ctG	p.L217L	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	217						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAGTAGGTTTGAGATGCTCTA	0.378000													23	85					0	0	1	0	0
HSP90AB2P	391634	broad.mit.edu	37	4	13338902	13338902	+	RNA	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:13338902G>A	ENST00000602906.1	+	0	690																				kidney(3)|lung(1)	4						ataagaagaagaaaactaaga	0.398000													9	28					0	0	1	0	0
ALDH4A1	8659	broad.mit.edu	37	1	19208312	19208312	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:19208312G>A	ENST00000375341.3	-	8	1005	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.R250W|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.R250W|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.R190W	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	250					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	CCAGCCTCCCGAAGGATGCGG	0.592000													12	40					0	0	1	0	0
CHD9	80205	broad.mit.edu	37	16	53296986	53296986	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:53296986G>C	ENST00000566029.1	+	20	4506	c.4297G>C	c.(4297-4299)Gat>Cat	p.D1433H	CHD9_ENST00000398510.3_Missense_Mutation_p.D1433H|CHD9_ENST00000447540.1_Missense_Mutation_p.D1433H|CHD9_ENST00000564845.1_Missense_Mutation_p.D1433H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1433					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GGCAGAAATAGATATAGAGGC	0.353000													24	50					0	0	1	0	0
PDZK1IP1	10158	broad.mit.edu	37	1	47650692	47650692	+	Missense_Mutation	SNP	G	G	A	rs150391778		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:47650692G>A	ENST00000294338.2	-	3	376	c.254C>T	c.(253-255)tCg>tTg	p.S85L	PDZK1IP1_ENST00000371885.1_Missense_Mutation_p.S85L|PDZK1IP1_ENST00000491793.1_5'UTR	NM_005764.3	NP_005755.1	Q13113	PDZ1I_HUMAN	PDZK1 interacting protein 1	85						integral to membrane				endometrium(1)|lung(1)|prostate(1)	3						GGCCGCCATCGAAGAGTACCT	0.602000													7	92					0	0	1	0	0
SDAD1	55153	broad.mit.edu	37	4	76882458	76882458	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:76882458G>C	ENST00000356260.5	-	15	1303	c.1185C>G	c.(1183-1185)atC>atG	p.I395M	SDAD1_ENST00000513089.1_5'UTR|SDAD1_ENST00000395711.4_Missense_Mutation_p.I358M	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	395					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTATAGCATTGATTCTAGAAA	0.363000													20	96					0	0	1	0	0
RRBP1	6238	broad.mit.edu	37	20	17639291	17639291	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:17639291T>A	ENST00000377813.1	-	3	2165	c.1862A>T	c.(1861-1863)cAa>cTa	p.Q621L	RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000377807.2_Missense_Mutation_p.Q191L|RRBP1_ENST00000246043.4_Missense_Mutation_p.Q621L|RRBP1_ENST00000360807.4_Missense_Mutation_p.Q191L			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	621					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						AGGAGCCTCTTGCTTTGGTGC	0.458000													21	97					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216274360	216274360	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:216274360G>A	ENST00000354785.4	-	15	2594	c.2225C>T	c.(2224-2226)tCa>tTa	p.S742L	FN1_ENST00000446046.1_Missense_Mutation_p.S742L|FN1_ENST00000359671.1_Missense_Mutation_p.S742L|FN1_ENST00000346544.3_Missense_Mutation_p.S742L|FN1_ENST00000336916.4_Missense_Mutation_p.S742L|FN1_ENST00000345488.5_Missense_Mutation_p.S742L|FN1_ENST00000357009.2_Missense_Mutation_p.S742L|FN1_ENST00000357867.4_Missense_Mutation_p.S742L|FN1_ENST00000421182.1_Missense_Mutation_p.S742L|FN1_ENST00000432072.2_Missense_Mutation_p.S742L|FN1_ENST00000356005.4_Missense_Mutation_p.S742L|FN1_ENST00000443816.1_Missense_Mutation_p.S742L|FN1_ENST00000323926.6_Missense_Mutation_p.S742L			P02751	FINC_HUMAN	fibronectin 1	742	Fibronectin type-III 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCGGAAGCTGAGACCCAGGA	0.532000													16	42					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75048695	75048695	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:75048695G>T	ENST00000453279.2	-	14	3638	c.2774C>A	c.(2773-2775)aCc>aAc	p.T925N	POM121C_ENST00000257665.5_Missense_Mutation_p.T1167N	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1167	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						AGGCGCAGGGGTGTTCTGACC	0.642000													5	42					0.000602214	0.000609609	1	1	0
IQCH	64799	broad.mit.edu	37	15	67793068	67793068	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:67793068C>G	ENST00000335894.4	+	21	3134	c.3068C>G	c.(3067-3069)tCt>tGt	p.S1023C	IQCH-AS1_ENST00000559298.1_lincRNA|IQCH_ENST00000360277.4_3'UTR|IQCH_ENST00000358767.3_3'UTR|IQCH_ENST00000546225.1_Missense_Mutation_p.S680C	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	1023										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AAAAACCTCTCTAAACCCAAG	0.348000													12	49					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68157442	68157442	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:68157442C>T	ENST00000294304.7	+	7	1612	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	502	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGCCTCCCTCGGGTGGCCCA	0.602000													17	51					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66456367	66456367	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:66456367G>A	ENST00000404260.3	+	27	4049	c.3741G>A	c.(3739-3741)aaG>aaA	p.K1247K	MAST4_ENST00000405643.1_Silent_p.K1065K|MAST4_ENST00000403666.1_Silent_p.K1055K|MAST4_ENST00000403625.2_Silent_p.K1244K|MAST4_ENST00000261569.7_Silent_p.K1050K			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1247						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ACAGCTATAAGAGCCGGATGG	0.398000													21	107					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60067790	60067790	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:60067790C>G	ENST00000505959.1	-	6	682	c.156G>C	c.(154-156)aaG>aaC	p.K52N	ELOVL7_ENST00000425382.1_Missense_Mutation_p.K65N|ELOVL7_ENST00000438340.1_Missense_Mutation_p.K65N|ELOVL7_ENST00000508821.1_Missense_Mutation_p.K65N			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	65					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TCATTGCTTTCTTGAGTTCAA	0.408000													8	39					0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25343320	25343320	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:25343320C>A	ENST00000330560.3	+	11	1888	c.1411C>A	c.(1411-1413)Cct>Act	p.P471T	CDCA2_ENST00000521098.2_3'UTR|CDCA2_ENST00000380665.3_Missense_Mutation_p.P456T	NM_152562.2	NP_689775.2	Q69YH5	CDCA2_HUMAN	cell division cycle associated 2	471					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TCTCAGTTCTCCTAATAAATC	0.289000													26	132					5.6714e-07	5.81242e-07	1	1	0
EIF3M	10480	broad.mit.edu	37	11	32615485	32615485	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:32615485G>C	ENST00000531120.1	+	6	670	c.607G>C	c.(607-609)Gat>Cat	p.D203H	EIF3M_ENST00000524896.1_Missense_Mutation_p.D71H	NM_006360.4	NP_006351.2	Q7L2H7	EIF3M_HUMAN	eukaryotic translation initiation factor 3, subunit M	203						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GGCTCGAGTTGATGCCCACAG	0.393000													10	77					0	0	1	0	0
OR4F17	81099	broad.mit.edu	37	19	110706	110706	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:110706C>T	ENST00000585993.1	+	2	167	c.28C>T	c.(28-30)Ctc>Ttc	p.L10F	OR4F17_ENST00000318050.3_Missense_Mutation_p.L10F			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTCTGGGTCTCTCTGATTC	0.393000													50	443					0	0	1	0	0
SHROOM3	57619	broad.mit.edu	37	4	77659989	77659989	+	Silent	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:77659989G>T	ENST00000296043.6	+	5	1616	c.663G>T	c.(661-663)ggG>ggT	p.G221G	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	221					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCTCCCAGGGGAGCATGGAGA	0.562000													11	93					3.07112e-06	3.14016e-06	1	1	0
PTPN5	84867	broad.mit.edu	37	11	18751345	18751345	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:18751345G>A	ENST00000396170.1	-	13	2518	c.1254C>T	c.(1252-1254)ggC>ggT	p.G418G	PTPN5_ENST00000477854.1_Silent_p.G254G|PTPN5_ENST00000396168.1_Silent_p.G426G|PTPN5_ENST00000396171.4_Silent_p.G450G|PTPN5_ENST00000396166.3_Silent_p.G56G|PTPN5_ENST00000396167.2_Silent_p.G418G|PTPN5_ENST00000358540.2_Silent_p.G450G|RP11-1081L13.4_ENST00000527285.1_RNA	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	450	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						AATGCTTCAGGCCTCGCTCCT	0.612000													8	69					0	0	1	0	0
SENP3-EIF4A1	100533955	broad.mit.edu	37	17	7476125	7476125	+	RNA	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:7476125G>C	ENST00000579777.1	+	0	2036					NR_037926.1																						ATAAGTTGTCGATAGGCGGGC	0.592000													25	140					0	0	1	0	0
DMRTA1	63951	broad.mit.edu	37	9	22451849	22451849	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:22451849C>A	ENST00000325870.2	+	2	1679	c.1454C>A	c.(1453-1455)tCc>tAc	p.S485Y		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCCTACCTTTCCAGTAAAGAC	0.428000													12	71					4.36969e-10	4.51694e-10	1	1	0
LATS1	9113	broad.mit.edu	37	6	150001317	150001317	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:150001317C>T	ENST00000543571.1	-	5	2834	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	LATS1_ENST00000253339.5_Missense_Mutation_p.E763K|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	763	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTACCCATTCATTGTCAGCT	0.368000													19	114					0	0	1	0	0
ANGEL1	23357	broad.mit.edu	37	14	77255661	77255661	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:77255661G>C	ENST00000251089.2	-	10	2035	c.1923C>G	c.(1921-1923)ctC>ctG	p.L641L	ANGEL1_ENST00000557179.1_Silent_p.L206L	NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	641										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		TGGCAGCCCAGAGTATCTCTT	0.567000													19	131					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35824634	35824634	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:35824634C>T	ENST00000314607.6	+	3	274	c.194C>T	c.(193-195)tCa>tTa	p.S65L	ZMYM4_ENST00000373297.2_Missense_Mutation_p.S65L|ZMYM4-AS1_ENST00000432683.1_RNA	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	65					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCTGAAAATTCATTGCTGGAT	0.388000													19	58					0	0	1	0	0
FAM160B2	64760	broad.mit.edu	37	8	21958965	21958965	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:21958965T>C	ENST00000289921.7	+	13	1677	c.1631T>C	c.(1630-1632)gTc>gCc	p.V544A		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	544										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CTGTGCCTGGTCCCCGAGGAA	0.612000													4	11					0	0	1	0	0
BARHL1	56751	broad.mit.edu	37	9	135458245	135458245	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:135458245G>A	ENST00000263610.2	+	1	674	c.61G>A	c.(61-63)Gcc>Acc	p.A21T	BARHL1_ENST00000542090.1_Missense_Mutation_p.A21T	NM_020064.3	NP_064448.1	Q9BZE3	BARH1_HUMAN	BarH-like homeobox 1	21						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)	8				OV - Ovarian serous cystadenocarcinoma(145;1.79e-06)|Epithelial(140;3.12e-05)		GGGCAGCCCCGCCCTTCCCAA	0.662000													28	86					0	0	1	0	0
TRDMT1	1787	broad.mit.edu	37	10	17202364	17202364	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:17202364C>G	ENST00000377799.3	-	6	446	c.399G>C	c.(397-399)ttG>ttC	p.L133F	TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000351358.4_Missense_Mutation_p.L87F|TRDMT1_ENST00000358282.7_3'UTR|TRDMT1_ENST00000457442.2_Missense_Mutation_p.L52F|TRDMT1_ENST00000377766.5_Missense_Mutation_p.D62H|TRDMT1_ENST00000412821.3_Missense_Mutation_p.L109F	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	133					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						TTGTTTGTATCAAGAGGTCTC	0.279000													4	15					0	0	1	0	0
ZNF836	162962	broad.mit.edu	37	19	52658816	52658816	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:52658816G>C	ENST00000322146.8	-	5	2641	c.2120C>G	c.(2119-2121)tCa>tGa	p.S707*	ZNF836_ENST00000597252.1_Nonsense_Mutation_p.S707*|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCAAGTTTTGAACTTTGGAT	0.398000													7	66					0	0	1	0	0
LRBA	987	broad.mit.edu	37	4	151773603	151773603	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:151773603C>G	ENST00000535741.1	-	23	3732	c.3259G>C	c.(3259-3261)Gaa>Caa	p.E1087Q	LRBA_ENST00000510413.1_Missense_Mutation_p.E1087Q|LRBA_ENST00000507224.1_Missense_Mutation_p.E1087Q|LRBA_ENST00000357115.3_Missense_Mutation_p.E1087Q			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1087						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GCATCCTCTTCTGAAGGAGAA	0.383000													25	91					0	0	1	0	0
ZNF746	155061	broad.mit.edu	37	7	149172354	149172354	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:149172354C>T	ENST00000340622.3	-	7	1336	c.1056G>A	c.(1054-1056)gaG>gaA	p.E352E	ZNF746_ENST00000458143.2_Silent_p.E353E			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	352					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCATGTCCCTCTCAGGCCGGG	0.672000													4	29					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54782818	54782818	+	Silent	SNP	A	A	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:54782818A>T	ENST00000391748.1	-	6	931	c.804T>A	c.(802-804)ccT>ccA	p.P268P	LILRB2_ENST00000391749.4_Silent_p.P268P|LILRB2_ENST00000314446.5_Silent_p.P268P|LILRB2_ENST00000434421.1_Silent_p.P152P|LILRB2_ENST00000391746.1_Silent_p.P268P	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	268	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCTGCCGGCCAGGGAGCTGGC	0.632000													16	80					0	0	1	0	0
PRICKLE2	166336	broad.mit.edu	37	3	64133257	64133257	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:64133257C>G	ENST00000295902.6	-	7	1494	c.909G>C	c.(907-909)caG>caC	p.Q303H	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.Q359H	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	303	LIM zinc-binding 3.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		AGCAGAATATCTGGCCCTGCT	0.602000													18	94					0	0	1	0	0
POTEF	728378	broad.mit.edu	37	2	130877918	130877918	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:130877918G>C	ENST00000357462.5	-	1	264	c.171C>G	c.(169-171)ctC>ctG	p.L57L	POTEF_ENST00000409914.2_Silent_p.L57L|POTEF_ENST00000361163.4_Silent_p.L57L|POTEF_ENST00000360967.5_Silent_p.L57L			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	57						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TCTTGCTCCTGAGTGTCTTCA	0.617000													49	320					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61526467	61526467	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:61526467C>G	ENST00000266070.4	-	9	2590	c.2265G>C	c.(2263-2265)gtG>gtC	p.V755V	DIDO1_ENST00000395340.1_Silent_p.V755V|DIDO1_ENST00000395343.1_Silent_p.V755V|DIDO1_ENST00000395335.2_Silent_p.V755V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	755	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCTTCAGTCTCACAAGTTTCG	0.448000													52	271					0	0	1	0	0
SQLE	6713	broad.mit.edu	37	8	126021528	126021528	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:126021528G>C	ENST00000265896.5	+	6	1949	c.1051G>C	c.(1051-1053)Gaa>Caa	p.E351Q	SQLE_ENST00000523430.1_Missense_Mutation_p.E256Q	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	351					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	CATTAGAGGAGAAATGCCAAG	0.363000													26	84					0	0	1	0	0
PDE12	201626	broad.mit.edu	37	3	57543279	57543279	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:57543279C>A	ENST00000311180.8	+	1	1276	c.1173C>A	c.(1171-1173)ttC>ttA	p.F391L	PDE12_ENST00000487257.1_Missense_Mutation_p.F391L	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	391							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGTCTAAGTTCAGCCTTCTTA	0.532000													13	55					1.52009e-12	1.57626e-12	1	1	0
DMXL1	1657	broad.mit.edu	37	5	118506141	118506141	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:118506141C>T	ENST00000311085.8	+	24	5735	c.5655C>T	c.(5653-5655)atC>atT	p.I1885I	DMXL1_ENST00000539542.1_Silent_p.I1885I	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1885										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CTAAAGTCATCAAGAAAACAA	0.373000													13	75					0	0	1	0	0
SFTA2	389376	broad.mit.edu	37	6	30899818	30899818	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:30899818C>T	ENST00000359086.3	-	1	134	c.56G>A	c.(55-57)gGa>gAa	p.G19E		NM_205854.2	NP_995326.1	Q6UW10	SFTA2_HUMAN	surfactant associated 2	19						extracellular region				lung(2)	2						CTCACCTGTTCCATGTGAGCT	0.607000													5	16					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58291116	58291116	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:58291116G>A	ENST00000391702.3	+	4	1399	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396154.2_Silent_p.S387S	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ACAGTTCTTCGTTCCGTCGCC	0.428000													20	132					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151841937	151841937	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:151841937G>C	ENST00000355193.2	-	56	14593	c.14375C>G	c.(14374-14376)tCa>tGa	p.S4792*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.S4735*					lysine (K)-specific methyltransferase 2C																		AAATGACTTTGAGGTGCTGGT	0.428000													7	56					0	0	1	0	0
LAMA3	3909	broad.mit.edu	37	18	21500974	21500974	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:21500974G>C	ENST00000313654.9	+	61	8240	c.7999G>C	c.(7999-8001)Gag>Cag	p.E2667Q	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.E2611Q|LAMA3_ENST00000587184.1_Missense_Mutation_p.E1002Q|LAMA3_ENST00000269217.6_Missense_Mutation_p.E1058Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2667	Laminin G-like 2.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTACCAAAAGAGAGAGGAGT	0.408000													10	58					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55542217	55542217	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:55542217C>T	ENST00000220676.1	+	4	5923	c.5775C>T	c.(5773-5775)atC>atT	p.I1925I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1925					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGTTATTATCCAACCCATGA	0.363000													6	132					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484922	43484922	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:43484922G>A	ENST00000395891.2	+	11	2756	c.2151G>A	c.(2149-2151)acG>acA	p.T717T	HECW1_ENST00000453890.1_Silent_p.T717T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCAGCCACACGCGCTTCTCCT	0.632000													21	70					0	0	1	0	0
KCNA1	3736	broad.mit.edu	37	12	5020817	5020817	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:5020817C>T	ENST00000382545.3	+	2	1380	c.273C>T	c.(271-273)gcC>gcT	p.A91A	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	91					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTCGACGCCATCCTCTACT	0.612000													20	111					0	0	1	0	0
FGF21	26291	broad.mit.edu	37	19	49259604	49259604	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:49259604C>T	ENST00000593756.1	+	2	683	c.111C>T	c.(109-111)ctC>ctT	p.L37L	FGF21_ENST00000222157.3_Silent_p.L37L			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	37					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		CCAGTCCTCTCCTGCAATTCG	0.627000													10	36					0	0	1	0	0
COL24A1	255631	broad.mit.edu	37	1	86591140	86591140	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:86591140G>C	ENST00000370571.2	-	3	1245	c.879C>G	c.(877-879)atC>atG	p.I293M	COL24A1_ENST00000436319.1_Missense_Mutation_p.I293M	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	293			I -> T (in dbSNP:rs17128866).		cell adhesion	collagen	extracellular matrix structural constituent	p.I293I(2)		NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CATTTTTTATGATATTTGGAA	0.388000													19	119					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193002713	193002713	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:193002713G>C	ENST00000342358.4	-	27	3333	c.3216C>G	c.(3214-3216)atC>atG	p.I1072M	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	1072					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AGTTTGTATAGATGGGTTTTC	0.378000													4	32					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196250016	196250016	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:196250016C>G	ENST00000367433.5	-	24	2913	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q	KCNT2_ENST00000367431.4_Missense_Mutation_p.E888Q|KCNT2_ENST00000294725.9_Missense_Mutation_p.E962Q|KCNT2_ENST00000609185.1_Missense_Mutation_p.E888Q|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	962						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTCTGAGACTCAGTCCTGTAG	0.353000													11	54					0	0	1	0	0
PABPC4	8761	broad.mit.edu	37	1	40041434	40041434	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:40041434C>T	ENST00000372857.3	-	1	982	c.190G>A	c.(190-192)Gac>Aac	p.D64N	PABPC4_ENST00000372862.3_Missense_Mutation_p.D64N|PABPC4_ENST00000372858.3_Missense_Mutation_p.D64N|PABPC4_ENST00000372856.3_Missense_Mutation_p.D64N	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	64	RRM 1.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TACTCACCGTCGGCCGGCTGC	0.687000													8	26					0	0	1	0	0
HOXB3	3213	broad.mit.edu	37	17	46629725	46629725	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:46629725G>C	ENST00000470495.1	-	1	1559	c.112C>G	c.(112-114)Cag>Gag	p.Q38E	HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.Q38E|HOXB3_ENST00000311626.4_Missense_Mutation_p.Q38E|HOXB3_ENST00000498678.1_Missense_Mutation_p.Q38E|HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000490677.1_Intron			P14651	HXB3_HUMAN	homeobox B3	38					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GTGGCGGCCTGAAATGGGGGT	0.642000													9	43					0	0	1	0	0
ZMYM4	9202	broad.mit.edu	37	1	35836216	35836216	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:35836216C>G	ENST00000314607.6	+	7	1249	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*	ZMYM4_ENST00000373297.2_Nonsense_Mutation_p.S390*|ZMYM4_ENST00000482131.1_3'UTR	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	390					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AAAACTTGTTCAAGTTGCTCA	0.403000													4	104					0	0	1	0	0
TTC30B	150737	broad.mit.edu	37	2	178416445	178416445	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:178416445C>G	ENST00000408939.3	-	1	1297	c.1047G>C	c.(1045-1047)ttG>ttC	p.L349F		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			ACTTATAAATCAAATGGGCAT	0.453000													20	115					0	0	1	0	0
ADCY5	111	broad.mit.edu	37	3	123166691	123166691	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:123166691G>A	ENST00000462833.1	-	1	1914	c.702C>T	c.(700-702)ttC>ttT	p.F234F		NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	234					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TCAGGCGGAAGAAGTAGCGCT	0.652000													4	37					0	0	1	0	0
EHMT2	10919	broad.mit.edu	37	6	31852767	31852767	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:31852767G>A	ENST00000395728.3	-	18	2540	c.2541C>T	c.(2539-2541)atC>atT	p.I847I	EHMT2_ENST00000375530.4_Silent_p.I756I|EHMT2_ENST00000375537.4_Silent_p.I790I|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.I813I			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	790					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CTGCAGCCCAGATGATGGGCG	0.617000													8	65					0	0	1	0	0
C1orf51	148523	broad.mit.edu	37	1	150255774	150255774	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:150255774G>T	ENST00000290363.5	+	1	546	c.97G>T	c.(97-99)Gat>Tat	p.D33Y	C1orf51_ENST00000369095.1_Missense_Mutation_p.D33Y|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CA051_HUMAN	chromosome 1 open reading frame 51	33	Ser-rich.									endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTCCCCTCTGATAGTGAGAG	0.582000													24	102					1.10513e-12	1.14777e-12	1	1	0
ZMYM6	9204	broad.mit.edu	37	1	35485132	35485132	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:35485132G>A	ENST00000357182.4	-	4	477	c.250C>T	c.(250-252)Cca>Tca	p.P84S	ZMYM6_ENST00000493328.1_Intron|ZMYM6_ENST00000373340.2_Missense_Mutation_p.P84S|ZMYM6_ENST00000317538.5_Missense_Mutation_p.P84S|ZMYM6_ENST00000373333.1_Missense_Mutation_p.P84S|ZMYM6_ENST00000487874.1_Missense_Mutation_p.P84S	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	84					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GCAACAGCTGGAACTGAAGGA	0.393000													10	64					0	0	1	0	0
PIGQ	9091	broad.mit.edu	37	16	633432	633432	+	Missense_Mutation	SNP	C	C	G	rs141844646		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:633432C>G	ENST00000026218.5	+	10	2169	c.2081C>G	c.(2080-2082)tCt>tGt	p.S694C	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	694					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCCAGTGGCTCTGCCCTGGCT	0.687000													10	52					0	0	1	0	0
WDR35	57539	broad.mit.edu	37	2	20138060	20138060	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:20138060G>C	ENST00000345530.3	-	19	2177	c.2062C>G	c.(2062-2064)Cag>Gag	p.Q688E	WDR35_ENST00000281405.4_Missense_Mutation_p.Q677E|WDR35_ENST00000416055.2_Missense_Mutation_p.Q253E	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	688										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTATGAACTGAGATGCATCT	0.418000													26	122					0	0	1	0	0
JARID2	3720	broad.mit.edu	37	6	15468887	15468887	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:15468887C>T	ENST00000341776.2	+	5	852	c.608C>T	c.(607-609)tCa>tTa	p.S203L	JARID2_ENST00000397311.3_Missense_Mutation_p.S31L|JARID2_ENST00000541660.1_Missense_Mutation_p.S165L	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	203					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AACAATGCTTCATCTTCATGC	0.468000													16	42					0	0	1	0	0
SNRK	54861	broad.mit.edu	37	3	43345026	43345026	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:43345026C>G	ENST00000296088.7	+	3	635	c.331C>G	c.(331-333)Ctt>Gtt	p.L111V	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000454177.1_Missense_Mutation_p.L111V|SNRK_ENST00000429705.2_Missense_Mutation_p.L111V|SNRK_ENST00000462810.1_3'UTR	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	111	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TGAGGAGGGTCTTAATGAAGA	0.363000													4	82					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43783913	43783913	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:43783913T>A	ENST00000263801.3	-	4	562	c.310A>T	c.(310-312)Atc>Ttc	p.I104F	TP53BP1_ENST00000450115.2_Missense_Mutation_p.I109F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I109F|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I109F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	104					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ACCTGACTGATGGAACCACAT	0.358000								Other conserved DNA damage response genes					39	161					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20056136	20056136	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:20056136C>G	ENST00000245957.5	+	6	519	c.443C>G	c.(442-444)tCa>tGa	p.S148*	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Nonsense_Mutation_p.S148*|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Nonsense_Mutation_p.S148*	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	148										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GATTTAGGCTCAACTCTCATA	0.378000													15	108					0	0	1	0	0
LILRB2	10288	broad.mit.edu	37	19	54780688	54780688	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:54780688G>A	ENST00000391748.1	-	10	1580	c.1453C>T	c.(1453-1455)Cga>Tga	p.R485*	LILRB2_ENST00000391749.4_Nonsense_Mutation_p.R486*|LILRB2_ENST00000314446.5_Nonsense_Mutation_p.R485*|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.R370*|LILRB2_ENST00000391746.1_Nonsense_Mutation_p.R486*	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	486					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCTGACGTCGATGTCggagg	0.602000													27	131					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172607390	172607390	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:172607390C>G	ENST00000351008.3	-	11	1863	c.1680G>C	c.(1678-1680)atG>atC	p.M560I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	560					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GAAGTCGCTTCATTTTTGTTT	0.403000													26	151					0	0	1	0	0
NIT1	4817	broad.mit.edu	37	1	161089363	161089363	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:161089363C>T	ENST00000368008.1	+	4	477	c.418C>T	c.(418-420)Cag>Tag	p.Q140*	NIT1_ENST00000392190.5_Nonsense_Mutation_p.Q104*|NIT1_ENST00000496861.1_3'UTR|NIT1_ENST00000368009.2_Nonsense_Mutation_p.Q140*|NIT1_ENST00000368007.4_Nonsense_Mutation_p.Q125*	NM_001185092.1	NP_001172021.1	Q86X76	NIT1_HUMAN	nitrilase 1	140	CN hydrolase.				nitrogen compound metabolic process	mitochondrion	nitrilase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(3)|lung(3)|prostate(1)	12	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGAGCAGACTCAGAAAATCTA	0.507000											OREG0013937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	29					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153130411	153130411	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:153130411G>A	ENST00000370060.1	-	23	3100	c.2911C>T	c.(2911-2913)Cgg>Tgg	p.R971W	L1CAM_ENST00000370055.1_Missense_Mutation_p.R966W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R971W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R966W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R973W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R973W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R971W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	971	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R971W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGGGGTCCCGAAGGTTGAAG	0.652000													36	65					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74902216	74902216	+	Silent	SNP	C	C	G	rs143464770	byFrequency	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:74902216C>G	ENST00000569840.2	+	8	1546	c.972C>G	c.(970-972)ctC>ctG	p.L324L	MGAT5B_ENST00000428789.2_Silent_p.L335L|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Silent_p.L324L	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	324						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGACTGCACTCTATGTCCTGG	0.642000													7	38					0	0	1	0	0
AADAT	51166	broad.mit.edu	37	4	170983085	170983085	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:170983085C>T	ENST00000337664.4	-	12	1470	c.1194G>A	c.(1192-1194)ttG>ttA	p.L398L	AADAT_ENST00000515480.1_Silent_p.L398L|AADAT_ENST00000353187.2_Silent_p.L398L|AADAT_ENST00000509167.1_Silent_p.L402L	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	398					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGGATGCTCTCAAGTAAGGGC	0.418000													13	67					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75968322	75968322	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:75968322C>T	ENST00000308508.5	-	10	6630	c.6538G>A	c.(6538-6540)Gag>Aag	p.E2180K		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	2180	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGGGCGGCCTCGGGGACACTG	0.701000													4	21					0	0	1	0	0
EDIL3	10085	broad.mit.edu	37	5	83402642	83402642	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:83402642G>C	ENST00000296591.5	-	6	894	c.476C>G	c.(475-477)tCa>tGa	p.S159*	EDIL3_ENST00000380138.3_Nonsense_Mutation_p.S149*	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	159	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CAGTGGGCCTGAGCATTCTGG	0.363000													25	105					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26553145	26553145	+	Silent	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:26553145G>T	ENST00000381340.3	-	53	7862	c.7446C>A	c.(7444-7446)ctC>ctA	p.L2482L	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2482					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)					TGCACATAAGGAGAGTGTCAC	0.388000													32	137					1.61788e-16	1.68428e-16	1	1	0
FAM173B	134145	broad.mit.edu	37	5	10235328	10235328	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:10235328G>C	ENST00000511437.1	-	4	502	c.490C>G	c.(490-492)Cag>Gag	p.Q164E	FAM173B_ENST00000510047.1_Intron|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510052.1_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	164						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CTCACCATCTGAGGCACACCG	0.468000													4	37					0	0	1	0	0
PTPRN	5798	broad.mit.edu	37	2	220166950	220166950	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:220166950G>A	ENST00000295718.2	-	6	1143	c.903C>T	c.(901-903)agC>agT	p.S301S	AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Silent_p.S211S|PTPRN_ENST00000409251.3_Silent_p.S301S	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	301					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CCCGGCTGCTGCTCCCTTGCT	0.622000													7	45					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43683262	43683262	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:43683262C>T	ENST00000599812.1	-	3	573	c.478G>A	c.(478-480)Gag>Aag	p.E160K	PSG5_ENST00000366175.3_Intron|PSG5_ENST00000407568.1_Intron|PSG5_ENST00000342951.6_Intron|PSG5_ENST00000407356.1_Intron|PSG5_ENST00000404580.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	160	Ig-like C2-type 1.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TCCATGGCCTCCCTGGGGTTT	0.517000													37	230					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22222419	22222419	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:22222419C>G	ENST00000374695.3	-	3	319	c.240G>C	c.(238-240)caG>caC	p.Q80H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	80	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	p.Q80Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTTACCCATCTGGAAGTCCC	0.582000													3	26					0	0	1	0	0
SEL1L	6400	broad.mit.edu	37	14	81993194	81993194	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:81993194C>G	ENST00000336735.4	-	3	339	c.223G>C	c.(223-225)Gag>Cag	p.E75Q	SEL1L_ENST00000555824.1_Missense_Mutation_p.E75Q	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	75	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CTGTCTTCCTCTTCTTGAATA	0.413000													7	199					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124298405	124298405	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:124298405C>G	ENST00000409039.3	+	20	3397	c.3372C>G	c.(3370-3372)ctC>ctG	p.L1124L		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1124	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCATGGAACTCAGATATAGGG	0.388000													5	23					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182921954	182921954	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:182921954G>C	ENST00000367547.3	-	1	551	c.315C>G	c.(313-315)ccC>ccG	p.P105P	SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	177										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						CTGGGGGCAGGGGCTGCGCCT	0.692000													4	22					0	0	1	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110451029	110451029	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:110451029C>G	ENST00000260283.4	-	16	2925	c.2641G>C	c.(2641-2643)Gag>Cag	p.E881Q	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.E845Q|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.E855Q|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.E424Q|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.E855Q|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.E858Q|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.E845Q	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	881					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TAATCCTCCTCTCCATGCAAG	0.458000													28	168					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34505427	34505427	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:34505427C>T	ENST00000374012.3	+	13	1976	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TTGAGTGAGTCCTCTTCTGAG	0.403000													13	26					0	0	1	0	0
COG5	10466	broad.mit.edu	37	7	106871097	106871097	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:106871097C>T	ENST00000393603.2	-	19	2495	c.2224G>A	c.(2224-2226)Gat>Aat	p.D742N	COG5_ENST00000297135.3_Missense_Mutation_p.D742N|COG5_ENST00000347053.3_Missense_Mutation_p.D721N	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	721					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTTCCTAAATCAGATACTCGT	0.383000													22	155					0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42522291	42522291	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:42522291G>A	ENST00000318522.5	+	12	1507	c.1245G>A	c.(1243-1245)gtG>gtA	p.V415V	EML4_ENST00000402711.2_Silent_p.V357V|EML4_ENST00000401738.3_Silent_p.V426V	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	415					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						TTTTGGCTGTGGAGTTTCACC	0.358000			T	ALK	NSCLC								23	71					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33044014	33044014	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:33044014C>G	ENST00000286835.7	-	20	3524	c.3142G>C	c.(3142-3144)Gag>Cag	p.E1048Q	SCAF4_ENST00000434667.3_Missense_Mutation_p.E1033Q|SCAF4_ENST00000399804.1_Missense_Mutation_p.E1026Q	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	1048						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTATTTCTCTCTTCCAAGTCT	0.502000													23	119					0	0	1	0	0
KIAA1549L	25758	broad.mit.edu	37	11	33589665	33589665	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:33589665G>A	ENST00000321505.4	+	8	3411	c.3231G>A	c.(3229-3231)caG>caA	p.Q1077Q	KIAA1549L_ENST00000265654.5_Silent_p.Q1083Q|KIAA1549L_ENST00000389726.3_Silent_p.Q1083Q					KIAA1549-like																		TGCACAACCAGAGCTTTGCCC	0.587000													7	19					0	0	1	0	0
WDR59	79726	broad.mit.edu	37	16	74950088	74950088	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:74950088C>T	ENST00000262144.6	-	12	1166	c.1036G>A	c.(1036-1038)Gag>Aag	p.E346K		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	346										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AGGGTCTTCTCAGGTTCCGGC	0.453000													27	54					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77911851	77911851	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:77911851C>G	ENST00000529308.1	+	6	1455	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	USP35_ENST00000530267.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.I129M|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	398					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGGAGGCCATCAAGGTGAGCG	0.637000													7	53					0	0	1	0	0
ABRA	137735	broad.mit.edu	37	8	107781826	107781826	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:107781826C>A	ENST00000311955.3	-	1	647	c.593G>T	c.(592-594)gGa>gTa	p.G198V		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	198					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CTCAGCCTCTCCTCCATAGCC	0.597000													29	160					2.16457e-27	2.26413e-27	1	1	0
ITGA10	8515	broad.mit.edu	37	1	145532243	145532243	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:145532243G>C	ENST00000369304.3	+	8	1062	c.887G>C	c.(886-888)aGa>aCa	p.R296T	ITGA10_ENST00000539363.1_Missense_Mutation_p.R153T|ITGA10_ENST00000538811.1_Missense_Mutation_p.R165T|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	296	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GAGGCTGGAAGAGTGACACGC	0.577000													11	37					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7110384	7110384	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:7110384C>T	ENST00000306904.5	+	1	220	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	11	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.F11F(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GGAAGCTGTTCATTGGGGGCC	0.617000													6	25					0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37455372	37455372	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:37455372C>G	ENST00000403888.3	+	5	528	c.527C>G	c.(526-528)tCc>tGc	p.S176C	KCTD17_ENST00000402077.3_Missense_Mutation_p.S176C	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	176						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						ATCGGCTCCTCCTACAACTAC	0.607000													16	107					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453155	53453155	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:53453155C>T	ENST00000357666.4	-	5	2173	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	ZNF816_ENST00000444460.2_Missense_Mutation_p.E625K|ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	625					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						TTGCCACACTCATTACACTTG	0.383000													16	159					0	0	1	0	0
TMEM242	729515	broad.mit.edu	37	6	157744516	157744516	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:157744516C>A	ENST00000400788.4	-	1	117	c.16G>T	c.(16-18)Gct>Tct	p.A6S	TMEM242_ENST00000367144.4_Missense_Mutation_p.A6S	NM_018452.4	NP_060922.2	Q9NWH2	CF035_HUMAN	transmembrane protein 242	6						integral to membrane											CCAGTTGCAGCGCCCGCTGTC	0.642000													23	178					1.55469e-16	1.61978e-16	1	1	0
ERCC1	2067	broad.mit.edu	37	19	45920135	45920135	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:45920135G>C	ENST00000300853.3	-	6	1137	c.546C>G	c.(544-546)ctC>ctG	p.L182L	ERCC1_ENST00000423698.2_Silent_p.L110L|ERCC1_ENST00000589165.1_Silent_p.L182L|ERCC1_ENST00000340192.7_Silent_p.L182L|ERCC1_ENST00000591636.1_Silent_p.L182L|ERCC1_ENST00000013807.5_Silent_p.L182L	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	182					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGCTCCTTGAGGGCCTGCT	0.527000								Nucleotide excision repair (NER)					5	20					0	0	1	0	0
KIAA0586	9786	broad.mit.edu	37	14	58955547	58955547	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:58955547G>A	ENST00000423743.3	+	25	3862	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	KIAA0586_ENST00000261244.5_Missense_Mutation_p.E1170K|KIAA0586_ENST00000354386.6_Missense_Mutation_p.E1299K|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000556134.1_Missense_Mutation_p.E1231K	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1170										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACCCATCTCTGAAGGAGAGAT	0.388000													7	64					0	0	1	0	0
CORO2A	7464	broad.mit.edu	37	9	100899883	100899883	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:100899883C>G	ENST00000343933.5	-	3	546	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	CORO2A_ENST00000375077.4_Missense_Mutation_p.E97Q	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	97					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGCGATCTCAAAATCATCA	0.542000													22	137					0	0	1	0	0
KMT2B	9757	broad.mit.edu	37	19	36211928	36211928	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:36211928C>T	ENST00000420124.1	+	3	1679	c.1679C>T	c.(1678-1680)tCa>tTa	p.S560L	KMT2B_ENST00000341701.1_Intron|KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000222270.7_Missense_Mutation_p.S560L					lysine (K)-specific methyltransferase 2B																		GTGGAGGTCTCACCTGTCCTG	0.602000													3	8					0	0	1	0	0
CLLU1OS	574016	broad.mit.edu	37	12	92814910	92814910	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:92814910G>C	ENST00000378487.2	-	3	183	c.182C>G	c.(181-183)tCa>tGa	p.S61*	CLLU1OS_ENST00000538965.1_Nonsense_Mutation_p.S61*	NM_001025232.1	NP_001020403.1	Q5K130	CLU1O_HUMAN	chronic lymphocytic leukemia up-regulated 1 opposite strand	61										large_intestine(1)|lung(7)	8						TTTTCCTTCTGAAATCTCATA	0.428000													17	95					0	0	1	0	0
CCDC88B	283234	broad.mit.edu	37	11	64108940	64108940	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:64108940C>T	ENST00000356786.5	+	6	539	c.495C>T	c.(493-495)ctC>ctT	p.L165L	CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	165					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCTCAGTCTCGAGGTCCAGA	0.652000													7	74					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30951555	30951555	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:30951555G>C	ENST00000402321.1	-	3	974	c.657C>G	c.(655-657)ttC>ttG	p.F219L	GAL3ST1_ENST00000406361.1_Missense_Mutation_p.F219L|GAL3ST1_ENST00000406955.1_Missense_Mutation_p.F219L|GAL3ST1_ENST00000402369.1_Missense_Mutation_p.F219L|GAL3ST1_ENST00000443111.2_Missense_Mutation_p.F219L|GAL3ST1_ENST00000401975.1_Missense_Mutation_p.F219L|GAL3ST1_ENST00000338911.5_Missense_Mutation_p.F219L			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	219					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCAGGTCGAAGAAGAGCAGGT	0.617000													18	93					0	0	1	0	0
NAIF1	203245	broad.mit.edu	37	9	130829073	130829073	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:130829073C>T	ENST00000373078.4	-	1	527	c.308G>A	c.(307-309)gGa>gAa	p.G103E		NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	103	Gly-rich.				apoptosis|induction of apoptosis	nucleus		p.G103A(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCCCCCAGCTCCGTCCTCCTC	0.682000													15	56					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119953034	119953034	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:119953034C>G	ENST00000307142.4	+	4	3300	c.3104C>G	c.(3103-3105)tCc>tGc	p.S1035C	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S1035C|SYNPO2_ENST00000429713.2_Missense_Mutation_p.S1035C	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	1035						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TCTCCTCCTTCCTTCTTTGCA	0.542000													12	59					0	0	1	0	0
QTRTD1	79691	broad.mit.edu	37	3	113804602	113804602	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:113804602C>G	ENST00000281273.4	+	10	1356	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	QTRTD1_ENST00000479882.1_Missense_Mutation_p.L244V|QTRTD1_ENST00000485050.1_Missense_Mutation_p.L379V|QTRTD1_ENST00000493014.1_Missense_Mutation_p.L261V	NM_024638.3	NP_078914.1	Q9H974	QTRD1_HUMAN	queuine tRNA-ribosyltransferase domain containing 1	367					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						CATCCACCATCTGCTGGTGAC	0.478000													22	137					0	0	1	0	0
KLHDC2	23588	broad.mit.edu	37	14	50249293	50249293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:50249293C>T	ENST00000298307.5	+	12	1939	c.1078C>T	c.(1078-1080)Caa>Taa	p.Q360*	KLHDC2_ENST00000554589.1_Intron|KLHDC2_ENST00000557247.1_Intron	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	360						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ATTTTCAGTTCAACCAAAATC	0.299000													7	52					0	0	1	0	0
ORC1	4998	broad.mit.edu	37	1	52854281	52854281	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:52854281C>T	ENST00000371568.3	-	8	1434	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	ORC1_ENST00000371566.1_Missense_Mutation_p.E406K	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	406					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTTTCTCTTCTTGGTCACTT	0.423000													21	131					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61894090	61894090	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:61894090C>T	ENST00000280772.2	-	25	2971	c.2780G>A	c.(2779-2781)aGa>aAa	p.R927K	ANK3_ENST00000503366.1_Missense_Mutation_p.R928K|ANK3_ENST00000355288.2_Missense_Mutation_p.R61K|ANK3_ENST00000373827.2_Missense_Mutation_p.R921K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATAGGAGCTTCTGTTCAAGGT	0.408000													9	35					0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5534847	5534847	+	Missense_Mutation	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:5534847G>T	ENST00000397747.3	+	3	406	c.158G>T	c.(157-159)gGa>gTa	p.G53V	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.G53V	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	53	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GTGAACCTTGGAGCAATAACA	0.488000													15	67					2.32078e-09	2.39524e-09	1	1	0
FAM135A	57579	broad.mit.edu	37	6	71238130	71238130	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:71238130G>C	ENST00000418814.2	+	16	4364	c.3750G>C	c.(3748-3750)ctG>ctC	p.L1250L	FAM135A_ENST00000361499.3_Silent_p.L1054L|FAM135A_ENST00000457062.2_Silent_p.L1037L|FAM135A_ENST00000505868.1_Silent_p.L1250L|FAM135A_ENST00000505769.1_Silent_p.L830L|FAM135A_ENST00000370479.3_Silent_p.L1037L	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1250										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						GAGTACATCTGATTGTCTGTG	0.388000													8	95					0	0	1	0	0
OR51A2	401667	broad.mit.edu	37	11	4976173	4976173	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:4976173G>A	ENST00000380371.1	-	1	770	c.771C>T	c.(769-771)atC>atT	p.I257I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGCCAGGTTGATGATGGGCA	0.483000													4	65					0	0	1	0	0
RALYL	138046	broad.mit.edu	37	8	85799997	85799997	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:85799997G>C	ENST00000521268.1	+	8	1949	c.844G>C	c.(844-846)Ggg>Cgg	p.G282R	RALYL_ENST00000521695.1_Missense_Mutation_p.G282R|RALYL_ENST00000521376.1_Intron|RALYL_ENST00000518566.1_Missense_Mutation_p.G271R|RALYL_ENST00000517638.1_Missense_Mutation_p.G295R|RALYL_ENST00000522455.1_Missense_Mutation_p.G282R|RALYL_ENST00000523850.1_Missense_Mutation_p.G209R	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	282							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CGATGAAGATGGGGGTCATGA	0.448000													9	87					0	0	1	0	0
KIAA0226L	80183	broad.mit.edu	37	13	46919708	46919708	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:46919708C>G	ENST00000429979.1	-	13	2263	c.1659G>C	c.(1657-1659)ccG>ccC	p.P553P	KIAA0226L_ENST00000322896.6_Silent_p.P396P|KIAA0226L_ENST00000409879.2_Silent_p.P396P|KIAA0226L_ENST00000389908.3_Silent_p.P553P|KIAA0226L_ENST00000378797.2_Intron|KIAA0226L_ENST00000378784.4_Silent_p.P486P|KIAA0226L_ENST00000378781.3_3'UTR|KIAA0226L_ENST00000534925.1_Silent_p.P418P|KIAA0226L_ENST00000378787.3_Intron	NM_025113.2	NP_079389.2	Q9H714	CM018_HUMAN	KIAA0226-like	553										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						TCAAGTGTCCCGGCACCTGCT	0.522000													4	27					0	0	1	0	0
RPP30	10556	broad.mit.edu	37	10	92662989	92662989	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:92662989G>C	ENST00000413330.1	+	13	974	c.939G>C	c.(937-939)caG>caC	p.Q313H	RPP30_ENST00000489806.1_3'UTR	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	0					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						tctctcatcagagagatcata	0.353000													12	51					0	0	1	0	0
HEPH	9843	broad.mit.edu	37	X	65474894	65474894	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:65474894C>T	ENST00000519389.1	+	16	2922	c.2743C>T	c.(2743-2745)Cag>Tag	p.Q915*	HEPH_ENST00000336279.5_Nonsense_Mutation_p.Q594*|HEPH_ENST00000374727.3_Nonsense_Mutation_p.Q864*|HEPH_ENST00000343002.2_Nonsense_Mutation_p.Q861*|HEPH_ENST00000419594.1_Nonsense_Mutation_p.Q672*|HEPH_ENST00000441993.2_Nonsense_Mutation_p.Q864*			Q9BQS7	HEPH_HUMAN	hephaestin	861	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGTCACTTATCAGTGGAACAT	0.502000													9	26					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559835	210559835	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:210559835G>A	ENST00000360351.4	+	7	3447	c.2941G>A	c.(2941-2943)Gaa>Aaa	p.E981K	MAP2_ENST00000447185.1_Missense_Mutation_p.E977K|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	981					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAAGAAAACTGAAGAGGCTGG	0.388000													6	69					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15288279	15288279	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:15288279C>T	ENST00000253693.2	+	18	2304	c.2051C>T	c.(2050-2052)tCa>tTa	p.S684L		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	684	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						AAGATTCCTTCACCATACACC	0.294000													4	46					0	0	1	0	0
MUC15	143662	broad.mit.edu	37	11	26587440	26587440	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:26587440G>A	ENST00000436318.2	-	2	180	c.47C>T	c.(46-48)tCc>tTc	p.S16F	MUC15_ENST00000455601.2_5'UTR|MUC15_ENST00000529533.1_Missense_Mutation_p.S16F|MUC15_ENST00000281268.8_Missense_Mutation_p.S16F|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.S16F			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	0						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TTTTTTAAAGGAATCTGAAAG	0.284000													9	45					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6964670	6964670	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:6964670C>T	ENST00000389658.3	-	51	7421	c.7328G>A	c.(7327-7329)aGa>aAa	p.R2443K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2443	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCTTACAACTCTTGACCTTGG	0.453000													26	146					0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103372333	103372333	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:103372333C>G	ENST00000520539.1	-	5	958	c.352G>C	c.(352-354)Gag>Cag	p.E118Q	UBR5_ENST00000220959.4_Missense_Mutation_p.E118Q|UBR5_ENST00000521922.1_Missense_Mutation_p.E118Q	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	118					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			CCTAGAGTCTCAGAACCTGAG	0.537000													6	63					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135738566	135738566	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:135738566C>T	ENST00000375845.3	-	9	3775	c.3745G>A	c.(3745-3747)Gat>Aat	p.D1249N	MAP3K19_ENST00000392917.3_Missense_Mutation_p.D381N|MAP3K19_ENST00000358371.4_Missense_Mutation_p.D1136N|MAP3K19_ENST00000315513.3_Missense_Mutation_p.D110N|MAP3K19_ENST00000375844.3_Missense_Mutation_p.D431N|MAP3K19_ENST00000392918.3_Missense_Mutation_p.D383N|MAP3K19_ENST00000392915.1_3'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3			mitogen-activated protein kinase kinase kinase 19																		CTCCAGATATCTGATTTCCGT	0.493000													10	53					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208207863	208207863	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:208207863G>C	ENST00000367033.3	-	27	5596	c.4839C>G	c.(4837-4839)atC>atG	p.I1613M		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1613					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACGTCCGGGAGATGCTGGCAG	0.587000													7	47					0	0	1	0	0
GCSAM	257144	broad.mit.edu	37	3	111842619	111842619	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:111842619C>T	ENST00000308910.4	-	6	404	c.220G>A	c.(220-222)Gac>Aac	p.D74N	GCSAM_ENST00000484193.1_Splice_Site_p.D76N|C3orf52_ENST00000467942.2_Intron	NM_001190259.1|NM_001190260.1|NM_152785.4	NP_001177188.1|NP_001177189.1|NP_689998.1			germinal center-associated, signaling and motility																		TCAACATTGTCCTGCTTGTCA	0.463000													17	93					0	0	1	0	0
AQP4	361	broad.mit.edu	37	18	24436234	24436234	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:24436234C>G	ENST00000383168.4	-	5	1041	c.913G>C	c.(913-915)Gac>Cac	p.D305H	AQP4_ENST00000581374.1_Missense_Mutation_p.D283H|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000440832.3_Missense_Mutation_p.D283H|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	305					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TCTCCCCGGTCAACGTCAATC	0.478000													29	184					0	0	1	0	0
FBXL16	146330	broad.mit.edu	37	16	745574	745574	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:745574G>A	ENST00000397621.1	-	3	1314	c.983C>T	c.(982-984)tCg>tTg	p.S328L	FBXL16_ENST00000562563.1_Missense_Mutation_p.S116L|FBXL16_ENST00000324361.5_Missense_Mutation_p.S328L	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	328										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGAGCAGCCCGAGAGGCTGAG	0.672000													4	21					0	0	1	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102483764	102483764	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:102483764G>C	ENST00000360184.4	+	40	8264	c.8100G>C	c.(8098-8100)tgG>tgC	p.W2700C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2700	AAA 3 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						ATCAAACATGGGTGAAGCTGG	0.493000													22	116					0	0	1	0	0
CADM1	23705	broad.mit.edu	37	11	115047241	115047241	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:115047241C>T	ENST00000452722.3	-	10	1302	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K	CADM1_ENST00000537058.1_Missense_Mutation_p.E439K|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000542447.2_Missense_Mutation_p.E400K|CADM1_ENST00000536727.1_Missense_Mutation_p.E429K|CADM1_ENST00000331581.6_Missense_Mutation_p.E457K	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1						adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TGTCCTCCTTCTGCATTGATT	0.438000													26	128					0	0	1	0	0
SMCHD1	23347	broad.mit.edu	37	18	2656144	2656144	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:2656144G>A	ENST00000320876.6	+	1	408	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	SMCHD1_ENST00000261598.8_Missense_Mutation_p.G24S	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	24					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CGGAGGCGTCGGCCACAGGAC	0.667000													5	12					0	0	1	0	0
EIF4G3	8672	broad.mit.edu	37	1	21329288	21329288	+	Translation_Start_Site	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:21329288G>T	ENST00000602326.1	-	0	531				EIF4G3_ENST00000374937.3_De_novo_Start_OutOfFrame|EIF4G3_ENST00000374927.4_De_novo_Start_OutOfFrame|EIF4G3_ENST00000356916.3_De_novo_Start_OutOfFrame|EIF4G3_ENST00000374935.3_De_novo_Start_OutOfFrame|EIF4G3_ENST00000400422.1_De_novo_Start_OutOfFrame|EIF4G3_ENST00000264211.8_De_novo_Start_OutOfFrame	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3						interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATTCTGTCCAGAGGGATAAGG	0.398000													21	103					1.00905e-13	1.0488e-13	1	1	0
PDIA6	10130	broad.mit.edu	37	2	10930949	10930949	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:10930949C>G	ENST00000404371.2	-	9	1088	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	PDIA6_ENST00000404824.2_Missense_Mutation_p.E247Q|PDIA6_ENST00000540494.1_Missense_Mutation_p.E196Q|PDIA6_ENST00000272227.3_Missense_Mutation_p.E199Q|PDIA6_ENST00000381611.4_Missense_Mutation_p.E204Q	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	199	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		GCAGCCCACTCTGGCTCTAGG	0.483000													12	52					0	0	1	0	0
TSG101	7251	broad.mit.edu	37	11	18505487	18505487	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:18505487C>T	ENST00000536719.1	-	8	907	c.773G>A	c.(772-774)cGa>cAa	p.R258Q	TSG101_ENST00000357193.3_Missense_Mutation_p.R153Q|TSG101_ENST00000251968.3_Missense_Mutation_p.R258Q			Q99816	TS101_HUMAN	tumor susceptibility 101	258					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						TTCTTCTGTTCGTTTCAAGGC	0.453000													19	318					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33076155	33076155	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:33076155C>G	ENST00000286835.7	-	4	626	c.244G>C	c.(244-246)Gat>Cat	p.D82H	SCAF4_ENST00000434667.3_Missense_Mutation_p.D67H|SCAF4_ENST00000399804.1_Missense_Mutation_p.D82H	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	82	CID.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCAAAAACATCTTTATCAGTT	0.328000													16	99					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170066055	170066055	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:170066055C>G	ENST00000263816.3	-	38	6662	c.6377G>C	c.(6376-6378)aGa>aCa	p.R2126T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2126					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGGTTTAATTCTACGGATCGC	0.448000													17	77					0	0	1	0	0
TEX2	55852	broad.mit.edu	37	17	62270958	62270958	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:62270958C>T	ENST00000258991.3	-	4	2221	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	TEX2_ENST00000584379.1_Missense_Mutation_p.E713K|TEX2_ENST00000583097.1_Missense_Mutation_p.E713K			Q8IWB9	TEX2_HUMAN	testis expressed 2	713					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		TTCTTGATTTCCGACTTTAGC	0.418000													29	146					0	0	1	0	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	96					0	0	1	0	0
EP400NL	347918	broad.mit.edu	37	12	132589708	132589708	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:132589708C>G	ENST00000376625.4	+	1	1169	c.1143C>G	c.(1141-1143)ttC>ttG	p.F381L	EP400NL_ENST00000392352.1_Missense_Mutation_p.F249L|EP400NL_ENST00000443539.2_Missense_Mutation_p.F249L|EP400NL_ENST00000389560.2_Missense_Mutation_p.F312L|EP400NL_ENST00000361109.5_Missense_Mutation_p.F228L					EP400 N-terminal like											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						AACTGTTTTTCTTGCAACACT	0.438000													10	59					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48327898	48327898	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:48327898C>G	ENST00000319988.1	+	1	124	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGGGAACCTTCTGGTCATCAT	0.433000													21	136					0	0	1	0	0
NOD2	64127	broad.mit.edu	37	16	50759418	50759418	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:50759418C>T	ENST00000300589.2	+	10	3006	c.2901C>T	c.(2899-2901)ctC>ctT	p.L967L		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	967					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	p.L967L(2)|p.Q968*(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAACCATCTCCAGGATGAAG	0.413000													15	84					0	0	1	0	0
FERMT3	83706	broad.mit.edu	37	11	63988079	63988079	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:63988079G>A	ENST00000279227.5	+	12	1590	c.1495G>A	c.(1495-1497)Gag>Aag	p.E499K	FERMT3_ENST00000345728.5_Missense_Mutation_p.E495K	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	499	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						TGCCTCTGCCGAGGGCCTCAA	0.657000													6	19					0	0	1	0	0
SH2D7	646892	broad.mit.edu	37	15	78393296	78393296	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:78393296C>G	ENST00000328828.5	+	5	701	c.701C>G	c.(700-702)tCt>tGt	p.S234C	SH2D7_ENST00000409568.2_Missense_Mutation_p.S98C	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	234										endometrium(2)|kidney(2)|lung(3)	7						CTGGAAGAGTCTTTTGGAGGC	0.587000													11	41					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939606	76939606	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:76939606G>A	ENST00000373344.5	-	9	1356	c.1142C>T	c.(1141-1143)tCa>tTa	p.S381L	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S343L	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	381					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	ACTGATTTCTGAATTATCTGT	0.363000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						64	135					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62300842	62300842	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:62300842G>C	ENST00000378024.4	-	5	1321	c.1047C>G	c.(1045-1047)atC>atG	p.I349M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	349					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGGGGCTTGGATAGTCAAGC	0.597000													11	68					0	0	1	0	0
SMAD1	4086	broad.mit.edu	37	4	146467968	146467968	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:146467968G>A	ENST00000515385.1	+	5	1431	c.889G>A	c.(889-891)Gat>Aat	p.D297N	SMAD1_ENST00000302085.4_Missense_Mutation_p.D297N|SMAD1_ENST00000394092.2_Missense_Mutation_p.D297N			Q15797	SMAD1_HUMAN	SMAD family member 1	297	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TGTGTTGGTGGATGGTTTCAC	0.468000													25	99					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90432853	90432853	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:90432853C>T	ENST00000369393.3	-	40	5903	c.5788G>A	c.(5788-5790)Gaa>Aaa	p.E1930K	MDN1_ENST00000428876.1_Missense_Mutation_p.E1930K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1930					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		ACAGTCACTTCATGATCAATC	0.448000													23	154					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1552587	1552587	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:1552587C>T	ENST00000381605.4	-	3	594	c.530G>A	c.(529-531)aGa>aAa	p.R177K	SIRPB1_ENST00000262929.5_Intron|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	177	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGTGATGTCTCTGGGAGAGAA	0.582000													25	109					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179592954	179592954	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:179592954C>G	ENST00000589042.1	-	67	19821	c.19597G>C	c.(19597-19599)Gag>Cag	p.E6533Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E5289Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E6216Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6216	Ig-like 46.						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)			ACAGATCTCTCATGGCACACA	0.403000													14	50					0	0	1	0	0
UPF2	26019	broad.mit.edu	37	10	12077380	12077380	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:12077380C>G	ENST00000356352.2	-	1	516	c.43G>C	c.(43-45)Gac>Cac	p.D15H	UPF2_ENST00000460569.1_5'UTR|UPF2_ENST00000397053.2_Missense_Mutation_p.D15H|UPF2_ENST00000357604.5_Missense_Mutation_p.D15H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	15	Glu/Lys-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding	p.D15Y(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				GGTAAAGAGTCTTTTTCTTCC	0.453000													27	114					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190423924	190423924	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:190423924C>T	ENST00000367462.3	-	2	328	c.97G>A	c.(97-99)Gct>Act	p.A33T	BRINP3_ENST00000534846.1_5'UTR	NM_199051.1	NP_950252.1			bone morphogenetic protein/retinoic acid inducible neural-specific 3	33																	GAAACAGCAGCAACCGCTAAA	0.507000													7	33					0	0	1	0	0
HTR1B	3351	broad.mit.edu	37	6	78172850	78172850	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:78172850G>C	ENST00000369947.2	-	1	640	c.271C>G	c.(271-273)Ctg>Gtg	p.L91V		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	91					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GTGACCGCCAGAGAGGCGATC	0.597000													19	108					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16248813	16248813	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:16248813C>T	ENST00000205557.7	-	28	3987	c.3958G>A	c.(3958-3960)Gag>Aag	p.E1320K		NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1320	ABC transporter 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATCCCACCCTCAGCTGCCTCC	0.687000													4	6					0	0	1	0	0
SPCS2	9789	broad.mit.edu	37	11	74688053	74688053	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:74688053C>T	ENST00000263672.6	+	5	685	c.646C>T	c.(646-648)Cat>Tat	p.H216Y	SPCS2_ENST00000526361.1_Missense_Mutation_p.H77Y|SPCS2_ENST00000530257.1_Missense_Mutation_p.H147Y|SPCS2_ENST00000528265.1_Intron	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	216					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						ATCCAGGCTCCATGACAGTCT	0.473000													5	25					0	0	1	0	0
OSBPL11	114885	broad.mit.edu	37	3	125298733	125298733	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:125298733T>A	ENST00000296220.5	-	3	674	c.385A>T	c.(385-387)Agt>Tgt	p.S129C		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	129	PH.				lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGTTCCCCACTGGCAGCGTTT	0.393000													18	79					0	0	1	0	0
SPSB3	90864	broad.mit.edu	37	16	1827834	1827834	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:1827834G>A	ENST00000566339.1	-	6	965	c.635C>T	c.(634-636)tCg>tTg	p.S212L	SPSB3_ENST00000301717.4_Missense_Mutation_p.S212L	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	212	B30.2/SPRY.				intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						GCCGAACCGCGATGAGAAGCT	0.647000													10	29					0	0	1	0	0
FKBP2	2286	broad.mit.edu	37	11	64010692	64010692	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:64010692G>A	ENST00000394540.3	+	3	663	c.193G>A	c.(193-195)Gag>Aag	p.E65K	FKBP2_ENST00000449942.2_Missense_Mutation_p.E65K|FKBP2_ENST00000309366.4_Missense_Mutation_p.E65K	NM_057092.2	NP_476433.1	P26885	FKBP2_HUMAN	FK506 binding protein 2, 13kDa	65	PPIase FKBP-type.				protein folding	endoplasmic reticulum membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			endometrium(2)|lung(3)	5						AGATGGGACAGAGTTTGACAG	0.607000													11	63					0	0	1	0	0
KLHL9	55958	broad.mit.edu	37	9	21333682	21333682	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:21333682G>A	ENST00000359039.4	-	1	1697	c.1177C>T	c.(1177-1179)Cac>Tac	p.H393Y	KLHL9_ENST00000537938.1_Missense_Mutation_p.H325Y			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	393					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCACTCAAGTGAAAGAATGTG	0.418000													14	81					0	0	1	0	0
IGLV8-61	28774	broad.mit.edu	37	22	22453484	22453484	+	RNA	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:22453484C>G	ENST00000390283.2	+	0	276																											ATCTACAGCACAAACACTCGC	0.577000													4	159					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43650868	43650868	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:43650868G>C	ENST00000374466.3	+	2	606	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	CSGALNACT2_ENST00000374464.1_Missense_Mutation_p.E91Q	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	91					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGAAATGAGTGAGAAGATGCG	0.433000													9	47					0	0	1	0	0
CNDP1	84735	broad.mit.edu	37	18	72238449	72238449	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:72238449C>T	ENST00000582365.1	+	6	722	c.656C>T	c.(655-657)tCa>tTa	p.S219L	CNDP1_ENST00000358821.3_Missense_Mutation_p.S262L			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	262					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GATTTTCACTCAGGAACCTTT	0.423000													15	69					0	0	1	0	0
LRRC71	149499	broad.mit.edu	37	1	156897567	156897567	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:156897567C>T	ENST00000337428.7	+	8	1019	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LRRC71_ENST00000490146.1_3'UTR	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	289										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GTCCCTGGCCCACAACCGCAT	0.721000											OREG0013892	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	49					0	0	1	0	0
HERPUD1	9709	broad.mit.edu	37	16	56969206	56969206	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:56969206C>G	ENST00000439977.2	+	2	404	c.207C>G	c.(205-207)ctC>ctG	p.L69L	HERPUD1_ENST00000300302.5_Silent_p.L69L|HERPUD1_ENST00000379792.2_Silent_p.L69L|HERPUD1_ENST00000344114.4_Silent_p.L69L|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	69	Ubiquitin-like.					endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						ACCAATGTCTCAGGGACTTGC	0.423000			T	ERG	prostate								25	61					0	0	1	0	0
RAB28	9364	broad.mit.edu	37	4	13481126	13481126	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:13481126G>C	ENST00000288723.4	-	2	314	c.100C>G	c.(100-102)Caa>Gaa	p.Q34E	RAB28_ENST00000338176.4_Missense_Mutation_p.Q34E|RAB28_ENST00000330852.5_Missense_Mutation_p.Q34E	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	34					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						AAAGTTTCTTGAGCAAAACAC	0.313000													14	30					0	0	1	0	0
YJEFN3	374887	broad.mit.edu	37	19	19648141	19648141	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:19648141G>C	ENST00000514277.4	+	7	746	c.708G>C	c.(706-708)gaG>gaC	p.E236D	YJEFN3_ENST00000436027.5_Missense_Mutation_p.E186D	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3		YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						GGGACGCAGAGACCGGCAGCG	0.701000													3	7					0	0	1	0	0
FASTKD3	79072	broad.mit.edu	37	5	7866908	7866908	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:7866908C>G	ENST00000264669.5	-	2	1425	c.1289G>C	c.(1288-1290)aGa>aCa	p.R430T	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	430					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTCCAGCTTTCTAAATAAAGC	0.358000													13	67					0	0	1	0	0
NAA25	80018	broad.mit.edu	37	12	112467399	112467399	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:112467399G>A	ENST00000261745.4	-	24	3103	c.2855C>T	c.(2854-2856)tCa>tTa	p.S952L		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	952						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						TTCCAGAAGTGAGTGCAGATA	0.388000													31	103					0	0	1	0	0
KIF5C	3800	broad.mit.edu	37	2	149840233	149840233	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:149840233G>C	ENST00000435030.1	+	15	2037	c.1669G>C	c.(1669-1671)Gat>Cat	p.D557H	KIF5C_ENST00000397413.1_Missense_Mutation_p.D325H|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.D462H			O60282	KIF5C_HUMAN	kinesin family member 5C	557					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GCTGTTGAAAGATCTGGGGGA	0.463000													7	35					0	0	1	0	0
GBP5	115362	broad.mit.edu	37	1	89729419	89729419	+	Splice_Site	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:89729419C>T	ENST00000343435.5	-	9	1898	c.1362G>A	c.(1360-1362)caG>caA	p.Q454Q	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Splice_Site_p.Q454Q	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	454						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CTAGGGATACCTGTATTCCTT	0.438000													18	114					0	0	1	0	0
OR5AP2	338675	broad.mit.edu	37	11	56409376	56409376	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:56409376G>A	ENST00000544374.1	-	1	571	c.543C>T	c.(541-543)atC>atT	p.I181I	OR5AP2_ENST00000302981.1_Silent_p.I180I			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I180M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						AGAAATGGTTGATCCTATTAG	0.428000													19	77					0	0	1	0	0
KMT2A	4297	broad.mit.edu	37	11	118377246	118377246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:118377246C>T	ENST00000534358.1	+	27	10662	c.10639C>T	c.(10639-10641)Cag>Tag	p.Q3547*	KMT2A_ENST00000354520.4_Nonsense_Mutation_p.Q3506*|KMT2A_ENST00000389506.5_Nonsense_Mutation_p.Q3544*	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2			lysine (K)-specific methyltransferase 2A																		CAAACGGTTTCAGCTGCCTCT	0.517000													14	53					0	0	1	0	0
RIOK3	8780	broad.mit.edu	37	18	21057017	21057017	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr18:21057017C>T	ENST00000339486.3	+	10	1838	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	RIOK3_ENST00000577501.1_Silent_p.L407L|RIOK3_ENST00000581585.1_Silent_p.L391L	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	407	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATGCTGACCTCAGTGAGTATA	0.358000													8	62					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109812635	109812635	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:109812635C>G	ENST00000271332.3	+	23	7249	c.7188C>G	c.(7186-7188)ttC>ttG	p.F2396L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2396					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TCACCTTCTTCTTCCTCACTC	0.582000													22	108					0	0	1	0	0
SLC17A4	10050	broad.mit.edu	37	6	25777134	25777134	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:25777134C>T	ENST00000377905.4	+	10	1334	c.1215C>T	c.(1213-1215)atC>atT	p.I405I	SLC17A4_ENST00000397076.2_Silent_p.I203I|SLC17A4_ENST00000439485.2_Silent_p.I175I	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	405					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTTCTGCCATCAGCAGCTTCT	0.527000													22	108					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78336962	78336962	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:78336962G>A	ENST00000582970.1	+	40	11559	c.11416G>A	c.(11416-11418)Gag>Aag	p.E3806K	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.E3855K|RNF213_ENST00000336301.6_Missense_Mutation_p.E1879K|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGAAGCGCCCGAGGAAGAGGT	0.473000													11	83					0	0	1	0	0
FILIP1	27145	broad.mit.edu	37	6	76024256	76024256	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:76024256C>G	ENST00000393004.2	-	5	1513	c.1292G>C	c.(1291-1293)aGa>aCa	p.R431T	FILIP1_ENST00000370020.1_Missense_Mutation_p.R332T|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.R431T			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	431										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TTCAGACATTCTCTTCTGTAG	0.393000													28	184					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1552980	1552980	+	Missense_Mutation	SNP	C	C	T	rs146401595	byFrequency	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:1552980C>T	ENST00000262319.6	+	15	2098	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	607						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTACAGCCTCCGGCAGCGCAT	0.637000													12	79					0	0	1	0	0
IL13	3596	broad.mit.edu	37	5	131993887	131993887	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:131993887G>A	ENST00000304506.3	+	1	23	c.9G>A	c.(7-9)ccG>ccA	p.P3P	AC004041.2_ENST00000435042.1_RNA|IL13_ENST00000468334.1_Intron	NM_002188.2	NP_002179.2	P35225	IL13_HUMAN	interleukin 13	3					cellular component movement|immune response|inflammatory response|signal transduction	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)|ovary(1)|skin(3)	6		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTATGCATCCGCTCCTCAATC	0.582000											OREG0003464	type=REGULATORY REGION|Gene=IL13|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	8	40					0	0	1	0	0
CXorf67	340602	broad.mit.edu	37	X	51150956	51150956	+	Missense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:51150956C>A	ENST00000342995.2	+	1	1190	c.1088C>A	c.(1087-1089)tCt>tAt	p.S363Y						chromosome X open reading frame 67											breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						CGCTCTCTGTCTGGGTCAGCT	0.612000													11	21					1.5842e-08	1.62992e-08	1	1	0
SCN9A	6335	broad.mit.edu	37	2	167163512	167163512	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:167163512G>A	ENST00000303354.6	-	3	671	c.331C>T	c.(331-333)Cct>Tct	p.P111S	SCN9A_ENST00000375387.4_Missense_Mutation_p.P111S|SCN9A_ENST00000409672.1_Missense_Mutation_p.P111S|SCN9A_ENST00000409435.1_Missense_Mutation_p.P111S			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	111						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GGACTGAAAGGAGAAAGCATA	0.333000													6	17					0	0	1	0	0
ZNF177	7730	broad.mit.edu	37	19	9490244	9490244	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:9490244C>G	ENST00000446085.4	+	8	734	c.202C>G	c.(202-204)Caa>Gaa	p.Q68E	ZNF177_ENST00000602856.1_Missense_Mutation_p.Q68E|ZNF177_ENST00000590616.1_Missense_Mutation_p.Q68E|ZNF177_ENST00000541595.2_Missense_Mutation_p.Q68E|ZNF177_ENST00000434737.2_Missense_Mutation_p.Q68E|ZNF177_ENST00000589262.1_Missense_Mutation_p.Q68E|ZNF177_ENST00000602738.1_Missense_Mutation_p.Q68E|ZNF177_ENST00000343499.4_Missense_Mutation_p.Q68E|ZNF177_ENST00000605471.1_3'UTR			Q13360	ZN177_HUMAN	zinc finger protein 177	68	KRAB.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CAAGGTGGATCAAGAACAGCT	0.478000													7	15					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10397923	10397923	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:10397923C>T	ENST00000226207.5	-	38	5628	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATGTTTGCGTAGACCCTT	0.393000													6	91					0	0	1	0	0
MINK1	50488	broad.mit.edu	37	17	4789840	4789840	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:4789840C>T	ENST00000355280.6	+	10	1064	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	MINK1_ENST00000347992.7_Missense_Mutation_p.R290W|MINK1_ENST00000453408.3_Missense_Mutation_p.R290W	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	290					JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCCCTTCATCCGGGACCAGCC	0.562000													19	104					0	0	1	0	0
KAT7	11143	broad.mit.edu	37	17	47874209	47874209	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:47874209G>C	ENST00000259021.4	+	3	541	c.261G>C	c.(259-261)gtG>gtC	p.V87V	KAT7_ENST00000503935.2_5'UTR|KAT7_ENST00000424009.2_Silent_p.V87V|KAT7_ENST00000510819.1_Intron|KAT7_ENST00000435742.2_5'UTR|KAT7_ENST00000454930.2_Intron|KAT7_ENST00000509773.1_Silent_p.V87V	NM_007067.4	NP_008998.1	O95251	MYST2_HUMAN	K(lysine) acetyltransferase 7	87					DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding										CTACCCCAGTGACACCGAAAA	0.488000													29	150					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18041449	18041449	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:18041449G>C	ENST00000205890.5	+	17	5234	c.4896G>C	c.(4894-4896)caG>caC	p.Q1632H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1632	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCCGTGAGCAGATAGACTGGC	0.572000													22	140					0	0	1	0	0
PCDHA10	56139	broad.mit.edu	37	5	140235895	140235895	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:140235895C>T	ENST00000307360.5	+	1	262	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.R88W|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAATTCTCGGATTGACCG	0.597000													41	256					0	0	1	0	0
RUFY1	80230	broad.mit.edu	37	5	179032922	179032922	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:179032922G>A	ENST00000319449.4	+	16	1914	c.1902G>A	c.(1900-1902)ctG>ctA	p.L634L	RUFY1_ENST00000437570.2_Silent_p.L526L|RUFY1_ENST00000377001.2_3'UTR|RUFY1_ENST00000393438.2_Silent_p.L526L	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	634					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCAGGCACTGAAGGTACTGC	0.463000										HNSCC(44;0.11)			9	68					0	0	1	0	0
PAPPA2	60676	broad.mit.edu	37	1	176762725	176762725	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:176762725C>T	ENST00000367662.3	+	20	6214	c.5050C>T	c.(5050-5052)Ccc>Tcc	p.P1684S		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1684	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						GTGTGTAATCCCCCCCAGTGA	0.468000													4	88					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166019331	166019331	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:166019331C>G	ENST00000360093.3	-	8	1193	c.702G>C	c.(700-702)aaG>aaC	p.K234N	SCN3A_ENST00000409101.3_Missense_Mutation_p.K234N|SCN3A_ENST00000283254.7_Missense_Mutation_p.K234N	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	234						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCACAATGGTCTTTAAACCTG	0.453000													16	91					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148483671	148483671	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:148483671G>A	ENST00000325222.4	+	12	1606	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	CUL1_ENST00000602748.1_Missense_Mutation_p.E443K|CUL1_ENST00000409469.1_Missense_Mutation_p.E443K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	443					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGCAGAACTAGAAGACACACT	0.388000													17	61					0	0	1	0	0
C11orf48	79081	broad.mit.edu	37	11	62437203	62437203	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:62437203G>C	ENST00000431002.2	-	1	2034	c.301C>G	c.(301-303)Ctc>Gtc	p.L101V	C11orf48_ENST00000532208.1_Missense_Mutation_p.L75V|C11orf48_ENST00000354588.3_Missense_Mutation_p.L75V			Q9BQE6	CK048_HUMAN	chromosome 11 open reading frame 48	101										endometrium(1)|lung(5)|urinary_tract(1)	7						GGCAAATGGAGATCCCCACTC	0.537000													9	98					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102384237	102384237	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:102384237G>C	ENST00000422945.2	+	15	1585	c.1489G>C	c.(1489-1491)Gaa>Caa	p.E497Q	PPP2R5C_ENST00000328724.5_Intron|PPP2R5C_ENST00000350249.3_Intron|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.E466Q	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	466					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCCTTTATTTGAAGATGTGCA	0.483000													11	89					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5745932	5745932	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:5745932C>G	ENST00000381624.3	+	9	727	c.666C>G	c.(664-666)ttC>ttG	p.F222L	CATSPERD_ENST00000381614.2_5'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	222						integral to membrane											AGGGCATGTTCAAGTACTCAG	0.547000													40	195					0	0	1	0	0
ECE1	1889	broad.mit.edu	37	1	21605738	21605738	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:21605738G>A	ENST00000415912.2	-	3	303	c.178C>T	c.(178-180)Ctg>Ttg	p.L60L	ECE1_ENST00000374893.6_Silent_p.L76L|ECE1_ENST00000436918.2_Silent_p.L76L|ECE1_ENST00000264205.6_Silent_p.L73L|ECE1_ENST00000357071.4_Silent_p.L64L	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	76					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CCTGCCGCCAGAAGTACCACC	0.627000													17	93					0	0	1	0	0
SEC24D	9871	broad.mit.edu	37	4	119673190	119673190	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:119673190G>C	ENST00000379735.5	-	13	1942	c.1671C>G	c.(1669-1671)gtC>gtG	p.V557V	SEC24D_ENST00000429811.2_Silent_p.V112V|SEC24D_ENST00000280551.6_Silent_p.V556V|SEC24D_ENST00000419654.2_Silent_p.V112V|SEC24D_ENST00000511481.1_Silent_p.V187V|SEC24D_ENST00000505134.1_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	556					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CAGGAGCAAAGACAGTCTCAT	0.358000													7	41					0	0	1	0	0
PNPLA6	10908	broad.mit.edu	37	19	7619567	7619567	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:7619567C>G	ENST00000221249.6	+	24	2909	c.2478C>G	c.(2476-2478)atC>atG	p.I826M	PNPLA6_ENST00000414982.3_Missense_Mutation_p.I874M|PNPLA6_ENST00000545201.2_Missense_Mutation_p.I799M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.I826M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.I864M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	865					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCGACTGCATCCTCATTGTGG	0.687000													13	81					0	0	1	0	0
AZU1	566	broad.mit.edu	37	19	829704	829704	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:829704C>T	ENST00000233997.2	+	3	379	c.358C>T	c.(358-360)Cag>Tag	p.Q120*		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	120	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GATGCTGCTTCAGGTGAGAGG	0.557000													7	31					0	0	1	0	0
VPS52	6293	broad.mit.edu	37	6	33236339	33236339	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:33236339C>T	ENST00000445902.2	-	7	854	c.636G>A	c.(634-636)caG>caA	p.Q212Q	VPS52_ENST00000436044.2_Silent_p.Q87Q|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	212					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTCTAGCTTCCTGCTCTCTGA	0.607000													11	60					0	0	1	0	0
SMG8	55181	broad.mit.edu	37	17	57289102	57289102	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:57289102C>T	ENST00000543872.2	+	2	1954	c.1690C>T	c.(1690-1692)Cag>Tag	p.Q564*	SMG8_ENST00000580498.1_Intron|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000578922.1_Nonsense_Mutation_p.Q564*|SMG8_ENST00000300917.5_Nonsense_Mutation_p.Q564*			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	564					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CAATGGCCATCAGCTCTGTGA	0.413000													16	78					0	0	1	0	0
ZNF462	58499	broad.mit.edu	37	9	109689086	109689086	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:109689086G>C	ENST00000277225.5	+	3	3182	c.2893G>C	c.(2893-2895)Gag>Cag	p.E965Q	ZNF462_ENST00000457913.1_Missense_Mutation_p.E965Q			Q96JM2	ZN462_HUMAN	zinc finger protein 462	965					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTATGTCGTGGAGCAGCAGGA	0.507000													14	97					0	0	1	0	0
RP11-556N21.1	0	broad.mit.edu	37	13	25144710	25144710	+	RNA	SNP	A	A	G	rs71218558	by1000genomes	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:25144710A>G	ENST00000453498.1	+	0	251																											GATGTGTTTAACACAGCCCCT	0.398000													4	23					0	0	1	0	0
VWA7	80737	broad.mit.edu	37	6	31735409	31735409	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:31735409C>G	ENST00000375686.3	-	11	1863	c.1626G>C	c.(1624-1626)aaG>aaC	p.K542N	VWA7_ENST00000447450.1_Missense_Mutation_p.K542N|VWA7_ENST00000375688.4_Missense_Mutation_p.K542N|VWA7_ENST00000467576.1_5'UTR	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	542						extracellular region											CTGCAGGGTTCTTGATCCAGA	0.547000													10	315					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38266335	38266335	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:38266335G>A	ENST00000412331.2	+	8	1314	c.732G>A	c.(730-732)ttG>ttA	p.L244L	EIF3L_ENST00000381683.6_Silent_p.L196L|EIF3L_ENST00000406934.1_Silent_p.L146L|EIF3L_ENST00000476955.1_3'UTR	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	244						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCGACAGTTGGAGGTATACA	0.478000													16	49					0	0	1	0	0
KIAA1429	25962	broad.mit.edu	37	8	95531373	95531373	+	Nonsense_Mutation	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:95531373C>A	ENST00000297591.5	-	9	2428	c.2353G>T	c.(2353-2355)Gaa>Taa	p.E785*	KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.E785*|KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.E785*	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	785					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCTGTTTCTTCACTGGCTGTA	0.408000													20	99					2.4624e-09	2.53941e-09	1	1	0
SLC17A3	10786	broad.mit.edu	37	6	25862139	25862139	+	Missense_Mutation	SNP	C	C	T	rs144108103	by1000genomes	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:25862139C>T	ENST00000397060.4	-	4	531	c.422G>A	c.(421-423)cGa>cAa	p.R141Q	SLC17A3_ENST00000361703.6_Intron|SLC17A3_ENST00000360657.3_Intron	NM_001098486.1	NP_001091956.1	O00476	NPT4_HUMAN	solute carrier family 17 (organic anion transporter), member 3	285					glucose-6-phosphate transport|urate metabolic process	apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm	drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)	20						GCCAACCACTCGCTTTGTTCC	0.463000													8	25					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1517862	1517862	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:1517862C>G	ENST00000381623.3	-	3	1705	c.516G>C	c.(514-516)gaG>gaC	p.E172D	SIRPD_ENST00000381621.1_Missense_Mutation_p.E173D			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	172						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TGCTGTTTCTCTCAGGCAGGG	0.602000													16	48					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18273609	18273609	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:18273609C>G	ENST00000441493.2	-	32	6250	c.5898G>C	c.(5896-5898)caG>caC	p.Q1966H	MICAL3_ENST00000580469.1_5'UTR|XXbac-B461K10.4_ENST00000476405.1_RNA	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1966						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTGAGTCTCTCTGCTCCACCA	0.562000													8	48					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89985761	89985761	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:89985761G>A	ENST00000405460.2	+	30	6670	c.6574G>A	c.(6574-6576)Gat>Aat	p.D2192N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2192	Calx-beta 15.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGTCATTAATGATATCTATCC	0.393000													3	24					0	0	1	0	0
KDM5A	5927	broad.mit.edu	37	12	427339	427339	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:427339C>T	ENST00000399788.2	-	19	3192	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K	KDM5A_ENST00000382815.4_Missense_Mutation_p.E944K	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	944					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TCCTGTAGTTCAGCCATTGCT	0.483000			T	NUP98	AML								29	113					0	0	1	0	0
HDAC5	10014	broad.mit.edu	37	17	42164824	42164824	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:42164824C>T	ENST00000225983.6	-	13	2166	c.1843G>A	c.(1843-1845)Gag>Aag	p.E615K	HDAC5_ENST00000586802.1_Missense_Mutation_p.E614K|HDAC5_ENST00000336057.5_Missense_Mutation_p.E614K|HDAC5_ENST00000393622.2_Missense_Mutation_p.E614K			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	614					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|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 kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GGCCCCTCCTCAGCACCACTC	0.612000													7	33					0	0	1	0	0
MOV10	4343	broad.mit.edu	37	1	113232569	113232569	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:113232569G>A	ENST00000369644.1	+	6	1546	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	MOV10_ENST00000357443.2_Missense_Mutation_p.A229T|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000413052.2_Missense_Mutation_p.A229T|MOV10_ENST00000369645.1_Missense_Mutation_p.A229T			Q9HCE1	MOV10_HUMAN	Mov10, Moloney leukemia virus 10, homolog (mouse)	229					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TTCAGAAGGAGCCGGCACATT	0.602000													13	76					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207170834	207170834	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:207170834G>C	ENST00000374423.3	+	5	1968	c.1582G>C	c.(1582-1584)Gat>Cat	p.D528H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	528							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TGGTTTGGTTGATAAGAACTA	0.443000													8	55					0	0	1	0	0
PPM1B	5495	broad.mit.edu	37	2	44457614	44457614	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:44457614G>A	ENST00000282412.4	+	6	1609	c.1197G>A	c.(1195-1197)atG>atA	p.M399I	PPM1B_ENST00000378540.4_Intron|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000345249.4_Missense_Mutation_p.M112I	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	399					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCAGGCAAATGAGAATTAATC	0.458000													19	83					0	0	1	0	0
MRI1	84245	broad.mit.edu	37	19	13875420	13875420	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:13875420C>T	ENST00000319545.8	+	1	75	c.18C>T	c.(16-18)atC>atT	p.I6I	MRI1_ENST00000040663.6_Silent_p.I6I	NM_032285.2	NP_115661.1	Q9BV20	MTNA_HUMAN	methylthioribose-1-phosphate isomerase 1	6					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TGGAGGCGATCCGCTACTCGC	0.711000													11	38					0	0	1	0	0
KIAA1407	57577	broad.mit.edu	37	3	113765547	113765547	+	Silent	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:113765547T>C	ENST00000295878.3	-	3	308	c.162A>G	c.(160-162)tcA>tcG	p.S54S	KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	54										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AAAATGCATTTGACACTGCAA	0.343000													6	34					0	0	1	0	0
ELAVL1	1994	broad.mit.edu	37	19	8038682	8038682	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:8038682C>G	ENST00000407627.2	-	4	486	c.357G>C	c.(355-357)caG>caC	p.Q119H	ELAVL1_ENST00000351593.5_Missense_Mutation_p.Q146H|ELAVL1_ENST00000593807.1_Missense_Mutation_p.Q119H|ELAVL1_ENST00000596459.1_Missense_Mutation_p.Q119H	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	119	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTACGTCCTTCTGGGTCATGG	0.582000													17	70					0	0	1	0	0
ENOX1	55068	broad.mit.edu	37	13	43930219	43930219	+	Missense_Mutation	SNP	T	T	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:43930219T>A	ENST00000261488.6	-	8	1236	c.659A>T	c.(658-660)cAg>cTg	p.Q220L	ENOX1_ENST00000412891.1_Missense_Mutation_p.Q220L|ENOX1_ENST00000540032.1_Missense_Mutation_p.Q33L	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	220	RRM.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATCCCTGGCCTGGGCAAAGTC	0.577000													9	61					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15520507	15520507	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:15520507C>G	ENST00000383785.2	-	5	495	c.370G>C	c.(370-372)Gag>Cag	p.E124Q	COLQ_ENST00000603808.1_Missense_Mutation_p.E124Q|COLQ_ENST00000435459.2_Missense_Mutation_p.E114Q|COLQ_ENST00000383786.5_Missense_Mutation_p.E90Q|COLQ_ENST00000383787.2_Intron|COLQ_ENST00000383781.4_Missense_Mutation_p.E114Q|COLQ_ENST00000383788.5_Missense_Mutation_p.E124Q			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	124	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CGGCCAAGCTCCCCCTATGGA	0.547000													15	76					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10403673	10403673	+	Splice_Site	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:10403673G>C	ENST00000221980.4	+	6	1279		c.e6-1			NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin						cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CCTGCCCGCAGACGCTCCCCG	0.667000													16	68					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179481234	179481234	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:179481234C>G	ENST00000589042.1	-	257	48508	c.48284G>C	c.(48283-48285)cGa>cCa	p.R16095P	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7155P|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R7030P|TTN_ENST00000342992.6_Missense_Mutation_p.R13527P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7222P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14454P|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14454	Ig-like 99.						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)			GCTGACTTCTCGTTTTTCAAC	0.433000													13	131					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46563643	46563643	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:46563643C>T	ENST00000458649.2	-	7	2342	c.1924G>A	c.(1924-1926)Gag>Aag	p.E642K	AMBRA1_ENST00000426438.1_Missense_Mutation_p.E642K|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E642K|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E642K|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E642K|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E552K|AMBRA1_ENST00000314845.3_Missense_Mutation_p.E552K			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	642					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTCCTCTCCTCCTGCGGACTA	0.592000													14	49					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587478	110587478	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:110587478G>A	ENST00000399066.3	-	6	2367	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	SYBU_ENST00000422135.1_Missense_Mutation_p.S550L|SYBU_ENST00000533065.1_Missense_Mutation_p.S431L|SYBU_ENST00000529175.1_Missense_Mutation_p.S344L|SYBU_ENST00000533171.1_Missense_Mutation_p.S550L|SYBU_ENST00000276646.9_Missense_Mutation_p.S550L|SYBU_ENST00000408908.2_Missense_Mutation_p.S550L|SYBU_ENST00000408889.3_Missense_Mutation_p.S431L|SYBU_ENST00000446070.2_Missense_Mutation_p.S549L|SYBU_ENST00000424158.2_Missense_Mutation_p.S555L|SYBU_ENST00000532779.1_Missense_Mutation_p.S482L|SYBU_ENST00000533895.1_Missense_Mutation_p.S549L|SYBU_ENST00000528647.1_Missense_Mutation_p.S549L|SYBU_ENST00000433638.1_Missense_Mutation_p.S550L|SYBU_ENST00000529690.1_Missense_Mutation_p.S420L|SYBU_ENST00000528331.1_Missense_Mutation_p.S431L|SYBU_ENST00000440310.1_Missense_Mutation_p.S550L|SYBU_ENST00000419099.1_Missense_Mutation_p.S549L	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	550						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AAGGATGGCTGAGTTTGGATT	0.527000													13	71					0	0	1	0	0
ENKD1	84080	broad.mit.edu	37	16	67697683	67697683	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:67697683C>T	ENST00000243878.4	-	5	941	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	ENKD1_ENST00000602644.1_Intron	NM_032140.1	NP_115516.1			enkurin domain containing 1																		CTTGGCAGCTCGTGCATTGTG	0.617000													9	16					0	0	1	0	0
PGAP2	27315	broad.mit.edu	37	11	3838631	3838631	+	Missense_Mutation	SNP	G	G	A	rs138861663		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:3838631G>A	ENST00000278243.4	+	3	415	c.214G>A	c.(214-216)Gat>Aat	p.D72N	AC090587.2_ENST00000507938.1_RNA|PGAP2_ENST00000396986.2_Intron|PGAP2_ENST00000300730.6_Intron|PGAP2_ENST00000396993.4_Intron|PGAP2_ENST00000479072.1_Intron|PGAP2_ENST00000465307.2_Intron|PGAP2_ENST00000463452.2_Intron|PGAP2_ENST00000532017.1_Intron|PGAP2_ENST00000396991.2_Missense_Mutation_p.D72N|PGAP2_ENST00000496834.2_Intron|PGAP2_ENST00000493547.2_Intron	NM_014489.3	NP_055304.1	Q9UHJ9	PGAP2_HUMAN	post-GPI attachment to proteins 2	72					GPI anchor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11						TTTGGACCCCGATGGGACCTT	0.592000													18	74					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140712171	140712171	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:140712171G>C	ENST00000517417.1	+	1	1920	c.1920G>C	c.(1918-1920)caG>caC	p.Q640H	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.Q640H	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTCAAGCAGAGTCTCGTGG	0.706000													17	99					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122958430	122958430	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:122958430C>T	ENST00000543897.1	-	12	3379	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E342K|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E191K|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.E580K			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	580						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		ACCTCAGGCTCATCCAGCGTC	0.478000													44	302					0	0	1	0	0
RGS12	6002	broad.mit.edu	37	4	3319682	3319682	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:3319682G>A	ENST00000336727.3	+	2	2689	c.1785G>A	c.(1783-1785)ctG>ctA	p.L595L	RGS12_ENST00000344733.5_Silent_p.L595L|RGS12_ENST00000543385.1_Silent_p.L595L|RGS12_ENST00000382788.3_Silent_p.L595L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	595						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGCCCCCGCTGAATGCCCCGA	0.557000													24	147					0	0	1	0	0
HTRA2	27429	broad.mit.edu	37	2	74757255	74757255	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:74757255C>G	ENST00000258080.3	+	1	752	c.122C>G	c.(121-123)tCa>tGa	p.S41*	HTRA2_ENST00000352222.3_Nonsense_Mutation_p.S41*|HTRA2_ENST00000467961.1_Intron	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	41					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						CTGCTGACGTCAGGAACTTCT	0.672000													9	33					0	0	1	0	0
THAP7	80764	broad.mit.edu	37	22	21355679	21355679	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr22:21355679C>G	ENST00000215742.4	-	2	276	c.102G>C	c.(100-102)ccG>ccC	p.P34P	THAP7_ENST00000399133.2_Silent_p.P34P	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7	34					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck	C2H2 zinc finger domain binding|DNA binding|metal ion binding|protein N-terminus binding			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGCCTCGCCTCGGGTTGTCCT	0.637000													14	113					0	0	1	0	0
ABCB10	23456	broad.mit.edu	37	1	229666156	229666156	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:229666156C>G	ENST00000344517.4	-	8	1478		c.e8-1			NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10							integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				ATGACCCCCTCTGAAACATAA	0.423000													15	88					0	0	1	0	0
CCNE2	9134	broad.mit.edu	37	8	95902767	95902767	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:95902767G>C	ENST00000520509.1	-	6	581	c.329C>G	c.(328-330)tCa>tGa	p.S110*	CCNE2_ENST00000523476.1_5'UTR|CCNE2_ENST00000396133.3_Nonsense_Mutation_p.S110*|CCNE2_ENST00000308108.4_Nonsense_Mutation_p.S110*			O96020	CCNE2_HUMAN	cyclin E2	110					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GACTTCTTTTGAACATCCCCA	0.363000													44	177					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	180					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207646467	207646467	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:207646467C>T	ENST00000367057.3	+	10	2110	c.1921C>T	c.(1921-1923)Cag>Tag	p.Q641*	CR2_ENST00000458541.2_Nonsense_Mutation_p.Q614*|CR2_ENST00000367058.3_Nonsense_Mutation_p.Q641*|CR2_ENST00000367059.3_Nonsense_Mutation_p.Q641*	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	641	Sushi 10.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.Q641E(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGGCAGTAGTCAGATTCGTTG	0.383000													26	99					0	0	1	0	0
CAPN7	23473	broad.mit.edu	37	3	15288273	15288273	+	Missense_Mutation	SNP	T	T	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:15288273T>G	ENST00000253693.2	+	18	2298	c.2045T>G	c.(2044-2046)aTt>aGt	p.I682S		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	682	Domain III.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTTTCAAAGATTCCTTCACCA	0.303000													5	45					0	0	1	0	0
RP11-166D19.1	0	broad.mit.edu	37	11	121970541	121970541	+	RNA	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:121970541G>A	ENST00000531381.1	-	0	732				MIR125B1_ENST00000385236.1_RNA																							CTCAGGGACTGAGAGGAGCGC	0.438000													9	22					0	0	1	0	0
LOC81691	81691	broad.mit.edu	37	16	20860751	20860751	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:20860751G>C	ENST00000261377.6	+	20	2483	c.2274G>C	c.(2272-2274)ctG>ctC	p.L758L	ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000348433.6_Silent_p.L727L|AC004381.6_ENST00000564274.1_Silent_p.L758L	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					GTCTAGGACTGATGGGAATAA	0.433000													12	61					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16959778	16959778	+	RNA	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:16959778G>A	ENST00000412962.1	-	0	74																											TCTGCCAGCCGCAGGCCTGTG	0.677000													4	26					0	0	1	0	0
RFX6	222546	broad.mit.edu	37	6	117232129	117232129	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:117232129C>G	ENST00000332958.2	+	7	720	c.704C>G	c.(703-705)tCa>tGa	p.S235*	RFX6_ENST00000471966.1_3'UTR	NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	235					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCGCTTAGCTCAAAAACTGGA	0.353000													22	123					0	0	1	0	0
HP1BP3	50809	broad.mit.edu	37	1	21106326	21106326	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:21106326C>T	ENST00000312239.5	-	3	314	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	HP1BP3_ENST00000375000.1_Missense_Mutation_p.E59K|HP1BP3_ENST00000487117.1_5'UTR	NM_016287.3	NP_057371.2	Q5SSJ5	HP1B3_HUMAN	heterochromatin protein 1, binding protein 3	59					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TCCTCCCCTTCAGCAAGCTTG	0.418000													14	59					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25972727	25972727	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:25972727G>C	ENST00000435504.4	-	12	1991	c.1698C>G	c.(1696-1698)ctC>ctG	p.L566L	ASXL2_ENST00000404843.1_Silent_p.L306L|ASXL2_ENST00000272341.4_Silent_p.L306L|ASXL2_ENST00000336112.4_Silent_p.L538L			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTCCTCTTGAGGCTTTCTG	0.522000													9	127					0	0	1	0	0
ACVR1	90	broad.mit.edu	37	2	158637047	158637047	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:158637047C>T	ENST00000263640.3	-	4	562	c.133G>A	c.(133-135)Gag>Aag	p.E45K	ACVR1_ENST00000487456.1_5'UTR|ACVR1_ENST00000410057.2_Missense_Mutation_p.E45K|ACVR1_ENST00000409283.2_Missense_Mutation_p.E45K|ACVR1_ENST00000434821.1_Missense_Mutation_p.E45K	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	45					BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CAGTGGTCCTCATTACCGCAG	0.488000													9	57					0	0	1	0	0
HPN	3249	broad.mit.edu	37	19	35540383	35540383	+	Silent	SNP	T	T	A	rs139031778	by1000genomes	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:35540383T>A	ENST00000262626.2	+	4	948	c.123T>A	c.(121-123)gcT>gcA	p.A41A	HPN_ENST00000392226.1_Silent_p.A41A|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	41					cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CTGCAGTGGCTGTTCTCCTCA	0.667000													3	16					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967560	4967560	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:4967560G>A	ENST00000380373.2	-	1	796	c.771C>T	c.(769-771)atC>atT	p.I257I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CGGCCAGGTTGATGATGGGCA	0.483000													11	166					0	0	1	0	0
TMEM150B	284417	broad.mit.edu	37	19	55828287	55828287	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:55828287G>A	ENST00000326652.4	-	7	554	c.372C>T	c.(370-372)ttC>ttT	p.F124F	TMEM150B_ENST00000438693.1_Silent_p.F124F	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	124						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						TACCCAAGATGAAGGCAAGGA	0.637000													4	20					0	0	1	0	0
UVSSA	57654	broad.mit.edu	37	4	1347046	1347046	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:1347046C>G	ENST00000389851.4	+	5	1226	c.779C>G	c.(778-780)tCt>tGt	p.S260C	UVSSA_ENST00000511216.1_Missense_Mutation_p.S260C|UVSSA_ENST00000507531.1_Missense_Mutation_p.S260C	NM_020894.2	NP_065945.2	Q2YD98	K1530_HUMAN	UV-stimulated scaffold protein A	260																	CTGCCTGCCTCTGCAGGCCAC	0.706000													12	22					0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21135215	21135215	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:21135215G>C	ENST00000298925.5	+	14	1618	c.1465G>C	c.(1465-1467)Gac>Cac	p.D489H	NELL1_ENST00000532434.1_Missense_Mutation_p.D461H|NELL1_ENST00000325319.5_Missense_Mutation_p.D404H|NELL1_ENST00000357134.5_Missense_Mutation_p.D461H			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	461	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						ATATCGCTGTGACTGTGTCCC	0.403000													27	126					0	0	1	0	0
PTBP3	9991	broad.mit.edu	37	9	115030431	115030431	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:115030431C>T	ENST00000334318.6	-	5	528	c.342G>A	c.(340-342)gtG>gtA	p.V114V	PTBP3_ENST00000343327.2_Silent_p.V16V|PTBP3_ENST00000374257.1_Silent_p.V83V|PTBP3_ENST00000458258.1_Silent_p.V117V|PTBP3_ENST00000487997.1_5'UTR|PTBP3_ENST00000374255.2_Silent_p.V111V	NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	O95758	ROD1_HUMAN	polypyrimidine tract binding protein 3	111	RRM 1.				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding										TGTAATAATTCACCATAGTAA	0.378000													19	72					0	0	1	0	0
PAXBP1	94104	broad.mit.edu	37	21	34116017	34116017	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr21:34116017C>G	ENST00000331923.4	-	14	2428	c.2239G>C	c.(2239-2241)Gat>Cat	p.D747H	PAXBP1_ENST00000290178.4_Missense_Mutation_p.D747H	NM_016631.3	NP_057715.2			PAX3 and PAX7 binding protein 1									p.D747N(1)									ATAAATACATCATCATCTAAA	0.289000													6	59					0	0	1	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138417679	138417679	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:138417679G>C	ENST00000310018.2	-	17	2133	c.1851C>G	c.(1849-1851)atC>atG	p.I617M	ATP6V0A4_ENST00000353492.4_Missense_Mutation_p.I617M|ATP6V0A4_ENST00000393054.1_Missense_Mutation_p.I617M	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	617					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GAAACATGTTGATGAAGTGGA	0.393000													9	35					0	0	1	0	0
TMEM62	80021	broad.mit.edu	37	15	43438827	43438827	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:43438827G>A	ENST00000260403.2	+	5	892	c.613G>A	c.(613-615)Gat>Aat	p.D205N		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	205						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		TGGAATTTTAGATAAGGTGCA	0.353000													14	101					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126411454	126411454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:126411454C>T	ENST00000394329.3	+	17	13490	c.13477C>T	c.(13477-13479)Cag>Tag	p.Q4493*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.Q2734*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4493					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTTCTGAGTCAGGGCCCTGA	0.602000													11	93					0	0	1	0	0
HNRNPA2B1	3181	broad.mit.edu	37	7	26237295	26237295	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:26237295C>T	ENST00000354667.4	-	3	268	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E22K	NM_031243.2	NP_112533.1	P22626	ROA2_HUMAN	heterogeneous nuclear ribonucleoprotein A2/B1	34	RRM 1.				RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AAACTTTCTTCTGTGGTTTCA	0.348000			T	ETV1	prostate								11	72					0	0	1	0	0
SNRNP200	23020	broad.mit.edu	37	2	96955031	96955031	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:96955031C>T	ENST00000323853.5	-	22	3104	c.3027G>A	c.(3025-3027)ctG>ctA	p.L1009L	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1009	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CAATCTCACTCAGGGTGGGCT	0.512000													9	60					0	0	1	0	0
MRM1	79922	broad.mit.edu	37	17	34958748	34958748	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:34958748G>A	ENST00000250156.7	+	1	748	c.509G>A	c.(508-510)gGa>gAa	p.G170E	MRM1_ENST00000585770.1_Intron	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	170					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		CACTTCCTCGGAGTGGATAAG	0.607000													6	40					0	0	1	0	0
FER1L6	654463	broad.mit.edu	37	8	125103704	125103704	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:125103704G>A	ENST00000522917.1	+	34	4638	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E1478K	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1478						integral to membrane		p.E1478K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CAAACCCACCGAAATCCTCAC	0.448000													15	98					0	0	1	0	0
SOX6	55553	broad.mit.edu	37	11	16007851	16007851	+	Silent	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:16007851C>T	ENST00000352083.6	-	15	2159	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	SOX6_ENST00000528252.1_Silent_p.P667P|SOX6_ENST00000528429.1_Silent_p.P694P|SOX6_ENST00000396356.3_Silent_p.P674P|SOX6_ENST00000316399.6_Silent_p.P674P|SOX6_ENST00000527619.1_Silent_p.P670P			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	694					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGGTGCGTTTCGGTCGGGGTT	0.473000													27	165					0	0	1	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19701995	19701995	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:19701995G>C	ENST00000397821.3	-	6	962	c.672C>G	c.(670-672)atC>atG	p.I224M	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.I187M|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.I268M	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	224					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GTCTTAGTTTGATTGGCTTGT	0.423000													6	113					0	0	1	0	0
MAP2K3	5606	broad.mit.edu	37	17	21207802	21207802	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:21207802C>G	ENST00000342679.4	+	8	882	c.633C>G	c.(631-633)atC>atG	p.I211M	MAP2K3_ENST00000316920.6_Missense_Mutation_p.I182M|MAP2K3_ENST00000361818.5_Missense_Mutation_p.I182M	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	211	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACTTTGGCATCAGTGGCTACT	0.587000													4	101					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49639073	49639073	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:49639073C>T	ENST00000334186.4	+	14	1907	c.1558C>T	c.(1558-1560)Cag>Tag	p.Q520*	PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.Q520*	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	520						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCGTTACTCTCAGGCACCCAC	0.612000													14	67					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104115599	104115599	+	Splice_Site	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:104115599C>G	ENST00000265148.3	-	7	649		c.e7-1		CENPE_ENST00000380026.3_Splice_Site	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa						blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCCTGCTCTCTGTAAAAATG	0.299000													10	38					0	0	1	0	0
RAD9B	144715	broad.mit.edu	37	12	110969422	110969422	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:110969422C>T	ENST00000409778.3	+	9	986	c.962C>T	c.(961-963)tCt>tTt	p.S321F	PPTC7_ENST00000354300.3_3'UTR|RAD9B_ENST00000409300.1_3'UTR|RAD9B_ENST00000409425.1_3'UTR|RAD9B_ENST00000409246.1_3'UTR|RAD9B_ENST00000392672.4_Silent_p.F426F			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	0					cell cycle checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCAAATATTTCTGTATTATCT	0.368000													5	41					0	0	1	0	0
ZNF852	285346	broad.mit.edu	37	3	44541961	44541961	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:44541961G>A	ENST00000436261.1	-	4	468	c.308C>T	c.(307-309)tCa>tTa	p.S103L	ZNF852_ENST00000489411.1_5'UTR			B6EU87	B6EU87_HUMAN	zinc finger protein 852	103					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)	8						TTCTTCATTTGAGGGTTGTCC	0.403000													9	30					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242072387	242072387	+	Silent	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:242072387C>G	ENST00000403638.3	-	9	1456	c.1365G>C	c.(1363-1365)cgG>cgC	p.R455R	PASK_ENST00000358649.4_Silent_p.R455R|PASK_ENST00000539818.1_Silent_p.R239R|PASK_ENST00000544142.1_Silent_p.R269R|PASK_ENST00000405260.1_Silent_p.R455R|PASK_ENST00000234040.4_Silent_p.R455R	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	455					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CCATCAGCTTCCGGATCTCAT	0.552000													8	74					0	0	1	0	0
LINGO2	158038	broad.mit.edu	37	9	27949815	27949815	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:27949815G>C	ENST00000379992.2	-	6	1304	c.855C>G	c.(853-855)atC>atG	p.I285M	LINGO2_ENST00000308675.3_Missense_Mutation_p.I285M	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	285						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CAATAGTGCTGATGGGATTGT	0.502000													21	91					0	0	1	0	0
PDYN	5173	broad.mit.edu	37	20	1961415	1961415	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr20:1961415C>G	ENST00000217305.2	-	4	544	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	PDYN_ENST00000540134.1_Missense_Mutation_p.E107Q|RP4-684O24.5_ENST00000446562.1_RNA|PDYN_ENST00000539905.1_Missense_Mutation_p.E107Q	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	107					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGCTTTTCTCCAGCTCCTTC	0.552000													19	92					0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99580252	99580252	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:99580252G>C	ENST00000481138.1	-	6	2714	c.2053C>G	c.(2053-2055)Caa>Gaa	p.Q685E	ZNF782_ENST00000535338.1_Missense_Mutation_p.Q553E	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				CTTGATTTTTGACTGAAAGTT	0.403000													18	145					0	0	1	0	0
TAPT1-AS1	202020	broad.mit.edu	37	4	16258195	16258195	+	RNA	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:16258195C>A	ENST00000570786.1	+	0	550				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1																						GCTCCGCCTGCTGCCACCACA	0.592000													5	9					1.23904e-05	1.26103e-05	1	1	0
RHOT1	55288	broad.mit.edu	37	17	30510207	30510207	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:30510207G>A	ENST00000358365.3	+	8	683	c.456G>A	c.(454-456)ctG>ctA	p.L152L	RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000581094.1_Silent_p.L152L|RHOT1_ENST00000354266.3_Silent_p.L131L|RHOT1_ENST00000545287.2_Silent_p.L152L|RHOT1_ENST00000394692.2_Silent_p.L152L|RHOT1_ENST00000583994.1_Silent_p.L25L|RHOT1_ENST00000333942.6_Silent_p.L152L	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	152	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CGAAAAACCTGAAGAACATAT	0.363000													13	99					0	0	1	0	0
ITGAX	3687	broad.mit.edu	37	16	31371055	31371055	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr16:31371055G>A	ENST00000268296.4	+	6	586	c.465G>A	c.(463-465)ctG>ctA	p.L155L	ITGAX_ENST00000562522.1_Silent_p.L155L	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	155					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TTGTGTTCCTGATCGATGGCT	0.587000													6	48					0	0	1	0	0
MAGI3	260425	broad.mit.edu	37	1	114201821	114201821	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:114201821G>C	ENST00000369615.1	+	16	2811	c.2749G>C	c.(2749-2751)Gat>Cat	p.D917H	MAGI3_ENST00000369617.4_Missense_Mutation_p.D942H|MAGI3_ENST00000369611.4_Missense_Mutation_p.D917H|MAGI3_ENST00000307546.9_Missense_Mutation_p.D917H	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	942	Interaction with LPAR2 and GRIN2B.|PDZ 5.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTGTCTCATGATAACATTGT	0.498000													19	88					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039121	242039121	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr2:242039121C>G	ENST00000391980.2	-	2	268	c.210G>C	c.(208-210)agG>agC	p.R70S	MTERFD2_ENST00000407095.3_Missense_Mutation_p.R70S|MTERFD2_ENST00000495694.1_Missense_Mutation_p.R70S|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	70										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		CAAGATTCCTCCTGCACTCTG	0.502000													16	74					0	0	1	0	0
LSR	51599	broad.mit.edu	37	19	35757813	35757813	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:35757813G>C	ENST00000602122.1	+	7	1658	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	LSR_ENST00000360798.3_Missense_Mutation_p.E343Q|LSR_ENST00000354900.3_Missense_Mutation_p.E392Q|LSR_ENST00000347609.4_Missense_Mutation_p.E353Q|LSR_ENST00000427250.1_Missense_Mutation_p.E255Q|LSR_ENST00000361790.3_Missense_Mutation_p.E411Q			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	411					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CATGGAGAAGGAGCTGGCCAA	0.637000													10	18					0	0	1	0	0
AASS	10157	broad.mit.edu	37	7	121733143	121733143	+	Silent	SNP	A	A	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:121733143A>C	ENST00000393376.1	-	15	1820	c.1725T>G	c.(1723-1725)acT>acG	p.T575T	AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Silent_p.T575T			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	575	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TGTAGCTTGCAGTGACCATGT	0.368000													16	85					0	0	1	0	0
EPHA1	2041	broad.mit.edu	37	7	143098438	143098438	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr7:143098438G>C	ENST00000275815.3	-	3	497	c.411C>G	c.(409-411)ctC>ctG	p.L137L		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	137						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AGGGCCGTCGGAGCTGAATGC	0.597000													27	99					0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51022267	51022267	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:51022267C>G	ENST00000599957.1	-	3	900	c.703G>C	c.(703-705)Gag>Cag	p.E235Q	LRRC4B_ENST00000389201.3_Missense_Mutation_p.E235Q			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	235						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCGACAGCTCCAGCTCCTCC	0.662000													8	30					0	0	1	0	0
DNM1P46	196968	broad.mit.edu	37	15	100340167	100340167	+	RNA	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:100340167G>C	ENST00000341853.1	-	0	759					NR_003260.1																						ACTCCTCCAGGAGTGTCTTCT	0.612000													8	18					0	0	1	0	0
VEGFA	7422	broad.mit.edu	37	6	43748497	43748497	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:43748497C>T	ENST00000425836.2	+	6	991	c.991C>T	c.(991-993)Caa>Taa	p.Q331*	VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000372055.4_Nonsense_Mutation_p.Q331*|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000523873.1_Nonsense_Mutation_p.Q151*|VEGFA_ENST00000518689.1_Nonsense_Mutation_p.Q151*|VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000520948.1_Nonsense_Mutation_p.Q151*|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000413642.3_Nonsense_Mutation_p.Q331*|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000324450.6_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	151					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GGGAAAGGGGCAAAAACGAAA	0.532000													19	98					0	0	1	0	0
HIST1H2BJ	8970	broad.mit.edu	37	6	27100478	27100478	+	Missense_Mutation	SNP	C	C	T	rs114239522	by1000genomes	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr6:27100478C>T	ENST00000607124.1	-	1	51	c.52G>A	c.(52-54)Gcg>Acg	p.A18T	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.A18T|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.A18T			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	18					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						TTAGTCACCGCCTTCTTGGAG	0.547000													25	147					0	0	1	0	0
EMR3	84658	broad.mit.edu	37	19	14758014	14758014	+	Silent	SNP	C	C	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:14758014C>A	ENST00000253673.5	-	8	961	c.861G>T	c.(859-861)acG>acT	p.T287T	EMR3_ENST00000344373.4_Silent_p.T235T|EMR3_ENST00000443157.2_Silent_p.T161T|EMR3_ENST00000599900.1_Silent_p.T72T	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	287					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGAAAGTCAGCGTCACAGACT	0.488000													38	155					6.1244e-12	6.34073e-12	1	1	0
HOXB8	3218	broad.mit.edu	37	17	46690650	46690650	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:46690650C>T	ENST00000239144.4	-	2	880	c.646G>A	c.(646-648)Gag>Aag	p.E216K	HOXB8_ENST00000576562.1_Missense_Mutation_p.E215K|HOXB7_ENST00000567101.2_Intron	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	216						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						TCCTCCTGCTCGCATTTGCTG	0.572000													23	109					0	0	1	0	0
ITLN1	55600	broad.mit.edu	37	1	160854650	160854650	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:160854650G>A	ENST00000326245.3	-	2	133	c.18C>T	c.(16-18)ttC>ttT	p.F6F		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	6					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GAAACAGCAGGAAGCTGAGTT	0.507000													29	178					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135431321	135431321	+	Nonsense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chrX:135431321C>G	ENST00000394143.1	+	6	5747	c.5456C>G	c.(5455-5457)tCa>tGa	p.S1819*	GPR112_ENST00000287534.4_Nonsense_Mutation_p.S1756*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S1614*|GPR112_ENST00000394141.1_Nonsense_Mutation_p.S1614*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1819*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1819					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACCCCTGTTTCATACCCTCCA	0.403000													20	36					0	0	1	0	0
SLITRK5	26050	broad.mit.edu	37	13	88327860	88327860	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr13:88327860C>G	ENST00000325089.6	+	2	436	c.217C>G	c.(217-219)Ctc>Gtc	p.L73V	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	73						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GATCATCAGTCTCTCTGAAAT	0.453000													32	163					0	0	1	0	0
VILL	50853	broad.mit.edu	37	3	38045803	38045803	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:38045803G>A	ENST00000283713.6	+	16	2129	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	VILL_ENST00000383759.2_Missense_Mutation_p.M621I|VILL_ENST00000465644.1_Missense_Mutation_p.M339I			O15195	VILL_HUMAN	villin-like	621					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCAGCCACATGGGCTGCCTGG	0.612000											OREG0015475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	15	26					0	0	1	0	0
WNT5B	81029	broad.mit.edu	37	12	1748930	1748930	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:1748930G>C	ENST00000397196.2	+	4	641	c.409G>C	c.(409-411)Gag>Cag	p.E137Q	WNT5B_ENST00000537031.1_Missense_Mutation_p.E137Q|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000310594.3_Missense_Mutation_p.E137Q	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	137					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			CCGCGAGGGCGAGCTCTCCAC	0.736000													5	20					0	0	1	0	0
CDK18	5129	broad.mit.edu	37	1	205497029	205497029	+	Silent	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:205497029G>C	ENST00000360066.2	+	9	1138	c.837G>C	c.(835-837)ctG>ctC	p.L279L	CDK18_ENST00000429964.2_Silent_p.L279L|CDK18_ENST00000509056.1_3'UTR|CDK18_ENST00000506784.1_Silent_p.L309L	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	277	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GGGGGGAGCTGAAGCTGGCCG	0.647000													23	87					0	0	1	0	0
DHPS	1725	broad.mit.edu	37	19	12792570	12792570	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:12792570G>A	ENST00000210060.7	-	1	146	c.11C>T	c.(10-12)tCc>tTc	p.S4F	DHPS_ENST00000351660.5_Missense_Mutation_p.S4F	NM_001930.3	NP_001921.1	P49366	DHYS_HUMAN	deoxyhypusine synthase	4					peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|post-translational protein modification|spermidine catabolic process to deoxyhypusine, using deoxyhypusine synthase|translation	cytosol	deoxyhypusine synthase activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8					Sulfadoxine(DB01299)	CCGTTCCAGGGAACCTTCCAT	0.677000													9	31					0	0	1	0	0
SNAP23	8773	broad.mit.edu	37	15	42805172	42805172	+	Missense_Mutation	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr15:42805172G>A	ENST00000249647.3	+	3	545	c.77G>A	c.(76-78)aGa>aAa	p.R26K	SNAP23_ENST00000564153.1_Missense_Mutation_p.R26K|SNAP23_ENST00000349777.1_Missense_Mutation_p.R26K|SNAP23_ENST00000567094.1_Missense_Mutation_p.R26K|SNAP23_ENST00000397138.1_Missense_Mutation_p.R26K	NM_003825.3	NP_003816.2	O00161	SNP23_HUMAN	synaptosomal-associated protein, 23kDa	26	t-SNARE coiled-coil homology 1.				cellular membrane fusion|post-Golgi vesicle-mediated transport|protein transport|vesicle targeting	azurophil granule|cell junction|Golgi apparatus|nucleus|plasma membrane enriched fraction|specific granule|synapse|synaptosome	protein binding			large_intestine(1)|lung(1)	2		all_cancers(109;7.14e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;1.18e-08)|all_lung(180;4.2e-08)|Melanoma(134;0.0179)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;2.62e-06)		AGTACGAGGAGAATCCTGGGT	0.343000													6	34					0	0	1	0	0
AGA	175	broad.mit.edu	37	4	178352919	178352919	+	Silent	SNP	G	G	A			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr4:178352919G>A	ENST00000264595.2	-	9	1111	c.984C>T	c.(982-984)ttC>ttT	p.F328F		NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	328					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TATAAACCATGAAACTAAACT	0.343000													8	52					0	0	1	0	0
PDCD6IP	10015	broad.mit.edu	37	3	33877665	33877665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:33877665C>T	ENST00000307296.3	+	8	1341	c.964C>T	c.(964-966)Cga>Tga	p.R322*	PDCD6IP_ENST00000457054.2_Nonsense_Mutation_p.R327*			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	322	BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TTATCATGATCGAGTTCCAGA	0.393000													20	140					0	0	1	0	0
PARP1	142	broad.mit.edu	37	1	226595596	226595596	+	Missense_Mutation	SNP	T	T	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:226595596T>C	ENST00000366794.5	-	1	178	c.35A>G	c.(34-36)gAg>gGg	p.E12G	PARP1_ENST00000366792.1_Missense_Mutation_p.E12G|PARP1_ENST00000366790.3_Missense_Mutation_p.E12G|PARP1_ENST00000366791.5_Missense_Mutation_p.E12G	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	12					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		CTTGGCGTACTCGACTCGATA	0.637000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					5	32					0	0	1	0	0
ATP6V1A	523	broad.mit.edu	37	3	113508676	113508676	+	Missense_Mutation	SNP	C	C	G			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:113508676C>G	ENST00000273398.3	+	8	1085	c.977C>G	c.(976-978)tCt>tGt	p.S326C	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.S293C	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	326					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGAAGCCTCTATTTATACT	0.373000													7	54					0	0	1	0	0
AMN	81693	broad.mit.edu	37	14	103390309	103390309	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:103390309C>T	ENST00000299155.5	+	3	233	c.200C>T	c.(199-201)tCa>tTa	p.S67L		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	67					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CACGCCGTCTCAGACATGGTA	0.647000													19	102					0	0	1	0	0
CACNB3	784	broad.mit.edu	37	12	49219263	49219263	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:49219263G>C	ENST00000301050.2	+	8	819	c.620G>C	c.(619-621)aGa>aCa	p.R207T	CACNB3_ENST00000536187.2_Missense_Mutation_p.R206T|CACNB3_ENST00000540990.1_Missense_Mutation_p.R194T|CACNB3_ENST00000547230.1_Missense_Mutation_p.R166T|CACNB3_ENST00000547392.1_Missense_Mutation_p.R180T	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	207					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CTCAAACACAGATTTGATGGC	0.552000													9	67					0	0	1	0	0
PPP3CB	5532	broad.mit.edu	37	10	75236954	75236954	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:75236954C>T	ENST00000394822.2	-	4	561	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	PPP3CB_ENST00000342558.3_Intron|PPP3CB_ENST00000360663.5_Intron|PPP3CB_ENST00000545874.1_Intron|PPP3CB_ENST00000394829.2_Intron|PPP3CB_ENST00000394828.2_Intron			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	137	Catalytic.									breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					gatatgtcttcagtgcctaga	0.343000													17	122					0	0	1	0	0
AP3M1	26985	broad.mit.edu	37	10	75898117	75898117	+	Silent	SNP	G	G	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:75898117G>T	ENST00000355264.4	-	2	332	c.21C>A	c.(19-21)ctC>ctA	p.L7L	AP3M1_ENST00000372745.1_Silent_p.L7L|AP3M1_ENST00000487653.1_5'UTR	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	7					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AACAGTTTATGAGAAATAGAC	0.353000													20	87					1.96292e-10	2.03066e-10	1	1	0
MCU	90550	broad.mit.edu	37	10	74644105	74644105	+	Missense_Mutation	SNP	G	G	C			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr10:74644105G>C	ENST00000536019.1	+	7	1241	c.796G>C	c.(796-798)Gag>Cag	p.E266Q	MCU_ENST00000357157.6_Missense_Mutation_p.E294Q|MCU_ENST00000605416.1_3'UTR|MCU_ENST00000373053.3_Missense_Mutation_p.E315Q	NM_001270680.1	NP_001257609.1	Q8NE86	MCU_HUMAN	mitochondrial calcium uniporter	315					elevation of mitochondrial calcium ion concentration|mitochondrial calcium ion transport|protein complex oligomerization	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	14						TTTTGACCTAGAGAAATACAA	0.328000													16	83					0	0	1	0	0
RPLP0P2	113157	broad.mit.edu	37	11	61404601	61404601	+	RNA	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:61404601C>T	ENST00000496593.1	+	0	1205					NR_002775.2																						TCTCCAGGGGCGCCATTGAAA	0.537000													4	45					0	0	1	0	0
ARL15	54622	broad.mit.edu	37	5	53409235	53409235	+	Missense_Mutation	SNP	C	C	T			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr5:53409235C>T	ENST00000504924.1	-	4	352	c.259G>A	c.(259-261)Gat>Aat	p.D87N	ARL15_ENST00000502271.1_5'UTR|ARL15_ENST00000510591.2_5'UTR|ARL15_ENST00000507646.2_Missense_Mutation_p.D87N	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15	87							GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				CGGATGTTATCAGCCCCTGTC	0.393000													9	43					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16475149	16475150	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr1:16475149_16475150delGG	ENST00000358432.5	-	3	700_701	c.546_547delCC	c.(544-549)ttccagfs	p.FQ182fs	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	182					activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CCGATATCCTGGAAGGCCAGGT	0.639													12	62	---	---	---	---					
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394													7	120	---	---	---	---					
KAT6A	7994	broad.mit.edu	37	8	41906295	41906295	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:41906295delT	ENST00000396930.3	-	3	744	c.201delA	c.(199-201)ggafs	p.G67fs	KAT6A_ENST00000265713.2_Frame_Shift_Del_p.G67fs|KAT6A_ENST00000406337.1_Frame_Shift_Del_p.G67fs|KAT6A_ENST00000485568.1_Frame_Shift_Del_p.G67fs	NM_001099412.1	NP_001092882.1	Q92794	MYST3_HUMAN	K(lysine) acetyltransferase 6A	67	Required for activation of RUNX1-1.|Required for nuclear localization.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										AGGAATTGAGTCCTTTATTTG	0.363													26	232	---	---	---	---					
PLEC	5339	broad.mit.edu	37	8	144990875	144990875	+	Frame_Shift_Del	DEL	G	G	-			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr8:144990875delG	ENST00000322810.4	-	32	13694	c.13525delC	c.(13525-13527)cagfs	p.Q4509fs	PLEC_ENST00000357649.2_Frame_Shift_Del_p.Q4376fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.Q4372fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.Q4395fs|PLEC_ENST00000354958.2_Frame_Shift_Del_p.Q4350fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.Q4399fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.Q4358fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.Q4372fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.Q4340fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4509	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TTCAGGGCCTGGGCGGCCGAC	0.667													10	65	---	---	---	---					
CDKN2A	1029	broad.mit.edu	37	9	21971124	21971125	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr9:21971124_21971125delGA	ENST00000579755.1	-	2	568_569	c.276_277delTC	c.(274-279)tctcacfs	p.H93fs	CDKN2A_ENST00000498124.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000498628.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000304494.5_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000579122.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000361570.3_Frame_Shift_Del_p.H134fs|CDKN2A_ENST00000479692.2_Frame_Shift_Del_p.L27fs|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000578845.2_Frame_Shift_Del_p.L27fs|CDKN2A_ENST00000446177.1_Frame_Shift_Del_p.L78fs|CDKN2A_ENST00000530628.2_Frame_Shift_Del_p.H93fs|CDKN2A_ENST00000494262.1_Frame_Shift_Del_p.L27fs			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	0			T -> A (in non-small cell lung carcinoma).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(11)|p.L65fs*38(1)|p.0(1)|p.L78fs*67(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.E61_L94del(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.H134fs*41(1)|p.L78H(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGTCGGGTGAGAGTGGCGGG	0.723		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	26	---	---	---	---					
TRIM51HP	440041	broad.mit.edu	37	11	55065032	55065032	+	RNA	DEL	T	T	-			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr11:55065032delT	ENST00000526016.1	-	0	393					NR_038174.2																						AAAGACTGCATTTTTTTTTAG	0.398													13	82	---	---	---	---					
RP11-114H23.1	0	broad.mit.edu	37	12	76082490	76082491	+	RNA	INS	-	-	T	rs141632958		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr12:76082490_76082491insT	ENST00000552856.1	-	0	401																											cattctTTTTCTTTTTTTTTTT	0.361													2	4	---	---	---	---					
SNORA11	677799	broad.mit.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs11429169		TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr14:70270922delT	ENST00000408133.1	-	0	126																											ATGGATTCTCTTTTTTTTTTT	0.353													6	8	---	---	---	---					
ZNF750	79755	broad.mit.edu	37	17	80790114	80790115	+	Frame_Shift_Ins	INS	-	-	GTCTA			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr17:80790114_80790115insGTCTA	ENST00000269394.3	-	2	1049_1050	c.216_217insTAGAC	c.(214-219)gaccccfs	p.P73fs	TBCD_ENST00000397466.2_Intron|TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	73						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GTTTGCTTGGGGTCTAGTGAGT	0.475													36	119	---	---	---	---					
IFI30	10437	broad.mit.edu	37	19	18284687	18284689	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-E7-A7XN-01A-11D-A34U-08	TCGA-E7-A7XN-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3127a04a-35bb-487d-846a-c8a1a18ca0b1	3f28b85c-0386-4ada-aab9-a41c567e8147	g.chr19:18284687_18284689delGCT	ENST00000407280.3	+	1	211_213	c.36_38delGCT	c.(34-39)ccgctg>ccg	p.L17del	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30						antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						tcctgccaccgctgctgctgctg	0.621													2	4	---	---	---	---					
