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
NFYC	4802	broad.mit.edu	37	1	41235027	41235027	+	Splice_Site	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:41235027G>A	ENST00000372652.1	+	9	1096		c.e9-1		NFYC_ENST00000456393.2_Splice_Site|NFYC_ENST00000447388.3_Splice_Site|NFYC_ENST00000440226.3_Splice_Site|NFYC_ENST00000425457.2_Splice_Site|NFYC_ENST00000372651.1_Splice_Site|NFYC_ENST00000372654.1_Splice_Site|NFYC_ENST00000308733.5_Splice_Site|NFYC_ENST00000427410.2_Splice_Site|NFYC_ENST00000372653.1_Splice_Site			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma						protein folding|regulation of transcription from RNA polymerase II promoter	CCAAT-binding factor complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	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;1.72e-17)			GATTCTTACAGATTACACAGA	0.507000													9	93					0	0	0.006214	0	0
LRRTM1	347730	broad.mit.edu	37	2	80530075	80530075	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:80530075G>T	ENST00000295057.3	-	2	1526	c.870C>A	c.(868-870)aaC>aaA	p.N290K	CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000540488.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.N290K|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	290						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						AGGTGAGGCGGTTGGAGTCCA	0.602000										HNSCC(69;0.2)			13	32					1.5739e-10	1.69862e-10	0.004007	1	0
MAMDC4	158056	broad.mit.edu	37	9	139751179	139751179	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:139751179G>A	ENST00000445819.1	+	17	2025	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	MAMDC4_ENST00000317446.2_Missense_Mutation_p.E580K|MAMDC4_ENST00000485732.1_3'UTR			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	659	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGTAACTTTGAGCGGGACAC	0.662000													10	23					0	0	0.006214	0	0
CAPN7	23473	broad.mit.edu	37	3	15276644	15276644	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:15276644G>C	ENST00000253693.2	+	12	1652	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	467	Calpain catalytic.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						GGATATTAGAGAGTTCAAGGT	0.393000													5	22					0	0	0.001168	0	0
EXO1	9156	broad.mit.edu	37	1	242045251	242045251	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:242045251C>T	ENST00000366548.3	+	14	2736	c.2143C>T	c.(2143-2145)Caa>Taa	p.Q715*	EXO1_ENST00000518483.1_Nonsense_Mutation_p.Q715*|EXO1_ENST00000348581.5_Nonsense_Mutation_p.Q715*	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	715	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ACTTGACAGTCAAAGTGACCA	0.279000								Editing and processing nucleases					4	44					0	0	0.000602	0	0
PADI3	51702	broad.mit.edu	37	1	17609457	17609457	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:17609457C>G	ENST00000375460.3	+	16	1918	c.1878C>G	c.(1876-1878)ctC>ctG	p.L626L		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	626					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		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;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGCTGGGCCTCCACTGCACCT	0.587000													7	54					0	0	0.001984	0	0
RGP1	9827	broad.mit.edu	37	9	35751957	35751957	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:35751957C>T	ENST00000378078.4	+	8	908	c.767C>T	c.(766-768)tCa>tTa	p.S256L	RGP1_ENST00000456972.2_Missense_Mutation_p.S296L	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	256										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCCAGTTTTCAGTCAGCTTA	0.577000													5	24					0	0	0.000602	0	0
DSG2	1829	broad.mit.edu	37	18	29104495	29104495	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr18:29104495C>T	ENST00000261590.8	+	7	984	c.775C>T	c.(775-777)Cag>Tag	p.Q259*		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	259	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGCTCAAGTTCAGATTCGTAT	0.343000													5	35					0	0	0.000602	0	0
CD46	4179	broad.mit.edu	37	1	207966940	207966940	+	Nonstop_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:207966940G>C	ENST00000441839.2	+	11	1251	c.1095G>C	c.(1093-1095)taG>taC	p.*365Y	CD46_ENST00000322918.5_Nonstop_Mutation_p.*350Y|CD46_ENST00000354848.1_3'UTR|CD46_ENST00000357714.1_3'UTR|CD46_ENST00000322875.4_3'UTR|CD46_ENST00000480003.1_3'UTR|CD46_ENST00000358170.2_3'UTR|CD46_ENST00000367041.1_3'UTR|CD46_ENST00000367042.1_3'UTR|CD46_ENST00000360212.2_3'UTR|CD46_ENST00000361067.1_3'UTR|CD46_ENST00000367047.1_3'UTR|CD46_ENST00000469535.1_3'UTR			P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	0					complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						AGGCTGAATAGATTCCACAAC	0.413000													6	36					0	0	0.001984	0	0
TNXB	7148	broad.mit.edu	37	6	32023635	32023635	+	Silent	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:32023635A>G	ENST00000375244.3	-	24	8661	c.8460T>C	c.(8458-8460)ggT>ggC	p.G2820G	TNXB_ENST00000375247.2_Silent_p.G2820G			P22105	TENX_HUMAN	tenascin XB	2878	Fibronectin type-III 20.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.G2820G(1)|p.G2907G(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CACCTGTCACACCCACGGTGG	0.582000													5	77					0	0	0.000602	0	0
RFC4	5984	broad.mit.edu	37	3	186507847	186507847	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:186507847C>T	ENST00000392481.2	-	11	1284	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N	RFC4_ENST00000296273.2_Missense_Mutation_p.D335N|RFC4_ENST00000433496.1_Missense_Mutation_p.D308N	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	335					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		AGGCATTTGTCAACTTCCTAC	0.378000													9	71					0	0	0.008291	0	0
RASSF8	11228	broad.mit.edu	37	12	26217552	26217552	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:26217552C>G	ENST00000405154.2	+	3	424	c.225C>G	c.(223-225)ctC>ctG	p.L75L	RASSF8_ENST00000282884.9_Silent_p.L75L|RASSF8_ENST00000541490.1_Silent_p.L75L|RASSF8_ENST00000542865.1_Silent_p.L75L|RASSF8_ENST00000381352.3_Silent_p.L75L	NM_001164748.1	NP_001158220.1	Q8NHQ8	RASF8_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 8	75	Ras-associating.				signal transduction					cervix(2)|endometrium(1)|large_intestine(6)|lung(15)|urinary_tract(1)	25	Colorectal(261;0.0847)					ATGTGCAGCTCATTCTACGAC	0.463000													21	109					0	0	0.014323	0	0
XIRP2	129446	broad.mit.edu	37	2	168103755	168103755	+	Silent	SNP	T	T	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:168103755T>G	ENST00000409195.1	+	9	5942	c.5853T>G	c.(5851-5853)gcT>gcG	p.A1951A	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Silent_p.A1951A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.A1729A|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1776					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGCTAAAGCTGTGATGGCAG	0.403000													8	43					0	0	0.006214	0	0
GNB5	10681	broad.mit.edu	37	15	52446255	52446255	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:52446255C>T	ENST00000261837.7	-	4	322	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	GNB5_ENST00000358784.7_Missense_Mutation_p.R44Q|GNB5_ENST00000560116.1_Missense_Mutation_p.R44Q|GNB5_ENST00000396335.4_Missense_Mutation_p.R44Q	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	86						heterotrimeric G-protein complex	GTPase activity|signal transducer activity	p.R86Q(1)		large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GGCCTCCACCCGCTCCGCCAC	0.562000													9	29					0	0	0.004482	0	0
FYN	2534	broad.mit.edu	37	6	112035585	112035585	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:112035585A>T	ENST00000354650.3	-	5	915	c.309T>A	c.(307-309)ttT>ttA	p.F103L	FYN_ENST00000356013.2_Missense_Mutation_p.F103L|FYN_ENST00000229470.5_Intron|FYN_ENST00000229471.4_Missense_Mutation_p.F103L|FYN_ENST00000368682.3_Missense_Mutation_p.F103L|FYN_ENST00000368678.4_Missense_Mutation_p.F103L|FYN_ENST00000368667.2_Missense_Mutation_p.F103L|FYN_ENST00000538466.1_Missense_Mutation_p.F103L	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	103	SH3.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	CTCCTTTGTGAAAACTCAGGT	0.428000													5	58					0	0	0.000602	0	0
PREP	5550	broad.mit.edu	37	6	105824004	105824004	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:105824004G>C	ENST00000369110.3	-	4	573	c.381C>G	c.(379-381)ctC>ctG	p.L127L		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	127					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACTTACCTCGGAGTGCCACTG	0.522000													17	38					0	0	0.006122	0	0
TEAD1	7003	broad.mit.edu	37	11	12785959	12785959	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:12785959A>T	ENST00000361905.4	+	3	800	c.135A>T	c.(133-135)ttA>ttT	p.L45F	TEAD1_ENST00000361985.2_Missense_Mutation_p.L60F|TEAD1_ENST00000334310.6_Missense_Mutation_p.L45F|TEAD1_ENST00000527575.1_Missense_Mutation_p.L60F|TEAD1_ENST00000527636.1_Missense_Mutation_p.L60F	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	60					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAATCATCTTATCAGACGAAG	0.488000													23	42					0	0	0.003330	0	0
EBF3	253738	broad.mit.edu	37	10	131641455	131641455	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:131641455C>T	ENST00000368648.3	-	12	1185	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	EBF3_ENST00000355311.5_Silent_p.L380L	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	380					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCGCCCGCTTCAGTAACACCT	0.602000													4	10					0	0	0.009096	0	0
ZNF75D	7626	broad.mit.edu	37	X	134426280	134426280	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:134426280C>T	ENST00000370766.3	-	4	3240	c.531G>A	c.(529-531)tgG>tgA	p.W177*	ZNF75D_ENST00000370764.1_Intron|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	177					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GGTATGTATTCCAATATTCTT	0.498000													5	77					0	0	0.001168	0	0
BOD1L1	259282	broad.mit.edu	37	4	13606027	13606027	+	Missense_Mutation	SNP	C	C	T	rs79874260	by1000genomes	TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:13606027C>T	ENST00000040738.5	-	10	2632	c.2497G>A	c.(2497-2499)Gct>Act	p.A833T		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	833	Lys-rich.						DNA binding										GTTTTTTCAGCTGACAAGCGT	0.353000													6	17					0	0	0.001168	0	0
KIAA1551	55196	broad.mit.edu	37	12	32135856	32135856	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:32135856C>T	ENST00000312561.4	+	4	2381	c.1967C>T	c.(1966-1968)tCa>tTa	p.S656L	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639.3			KIAA1551																		CAAGAATCCTCAACAAAAGGA	0.423000													6	59					0	0	0.001984	0	0
NANP	140838	broad.mit.edu	37	20	25604531	25604531	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:25604531G>A	ENST00000304788.3	-	1	280	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	18					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						CGGCCGTGTCGATGAGAGTGT	0.701000													4	26					0	0	0.009096	0	0
NLRP4	147945	broad.mit.edu	37	19	56369423	56369423	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:56369423C>G	ENST00000301295.6	+	3	1086	c.664C>G	c.(664-666)Caa>Gaa	p.Q222E	NLRP4_ENST00000346986.5_Missense_Mutation_p.Q222E|NLRP4_ENST00000587891.1_Missense_Mutation_p.Q147E	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	222	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GATCGTGTCTCAACCGGAGAG	0.547000													4	89					0	0	0.009096	0	0
SLC16A4	9122	broad.mit.edu	37	1	110921808	110921808	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:110921808C>T	ENST00000369779.4	-	6	946	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	SLC16A4_ENST00000472422.2_Missense_Mutation_p.E185K|SLC16A4_ENST00000437429.2_Missense_Mutation_p.E123K|SLC16A4_ENST00000541986.1_Missense_Mutation_p.E171K|SLC16A4_ENST00000369781.4_Intron|SLC16A4_ENST00000497687.1_5'UTR	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	233						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GTAGACTCTTCTGTCTCATGG	0.423000													39	90					0	0	0.008740	0	0
ANKAR	150709	broad.mit.edu	37	2	190559831	190559831	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:190559831C>G	ENST00000520309.1	+	6	1520	c.1432C>G	c.(1432-1434)Caa>Gaa	p.Q478E	ANKAR_ENST00000438402.2_Missense_Mutation_p.Q478E|ANKAR_ENST00000431575.2_Missense_Mutation_p.Q407E|ANKAR_ENST00000313581.4_Missense_Mutation_p.Q478E|ANKAR_ENST00000281412.6_Missense_Mutation_p.Q242E|ANKAR_ENST00000461516.1_Intron	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	478						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			GACAGATGCTCAATTACATGA	0.338000													4	47					0	0	0.000602	0	0
COLEC12	81035	broad.mit.edu	37	18	480723	480723	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr18:480723G>A	ENST00000400256.3	-	2	249	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN	collectin sub-family member 12	14					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTTGTAACCGAAGGATTGCA	0.552000													12	49					0	0	0.013537	0	0
CD109	135228	broad.mit.edu	37	6	74516607	74516607	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:74516607C>G	ENST00000437994.2	+	25	3432	c.3001C>G	c.(3001-3003)Cct>Gct	p.P1001A	CD109_ENST00000422508.2_Missense_Mutation_p.P924A|CD109_ENST00000287097.5_Missense_Mutation_p.P1001A	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1001						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAAGCCGATCCTTACATAGA	0.343000													4	30					0	0	0.000602	0	0
MAFB	9935	broad.mit.edu	37	20	39316788	39316788	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:39316788C>T	ENST00000373313.2	-	1	1092	c.703G>A	c.(703-705)Gag>Aag	p.E235K	MAFB_ENST00000396967.1_Missense_Mutation_p.E235K	NM_005461.3	NP_005452.2	Q9Y5Q3	MAFB_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B	235					negative regulation of erythrocyte differentiation		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(1)|large_intestine(1)	2		Myeloproliferative disorder(115;0.00878)				CGGATCACCTCGTCCTTGGTG	0.647000			T	IGH@	MM								5	12					0	0	0.000602	0	0
KRTAP13-2	337959	broad.mit.edu	37	21	31744345	31744345	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr21:31744345G>A	ENST00000399889.2	-	1	212	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	63	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						CAGCTGGTGGGCTCCCAGCAG	0.602000													23	43					0	0	0.012319	0	0
VPS13D	55187	broad.mit.edu	37	1	12337106	12337106	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:12337106G>A	ENST00000358136.3	+	19	3591	c.3461G>A	c.(3460-3462)gGa>gAa	p.G1154E	VPS13D_ENST00000356315.4_Missense_Mutation_p.G1154E	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1154					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGAGAACAAGGAACTTACCAG	0.393000													5	84					0	0	0.000602	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418065	105418065	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:105418065G>A	ENST00000333244.5	-	7	3842	c.3723C>T	c.(3721-3723)ggC>ggT	p.G1241G	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1241						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCCTTTGAAGCCGGCTCCCT	0.642000													78	36					0	0	0.014410	0	0
ZNF211	10520	broad.mit.edu	37	19	58152803	58152803	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:58152803G>A	ENST00000544273.1	+	5	1312	c.985G>A	c.(985-987)Gaa>Aaa	p.E329K	ZNF211_ENST00000240731.4_Missense_Mutation_p.E330K|ZNF211_ENST00000541801.1_Missense_Mutation_p.E308K|ZNF211_ENST00000254182.7_Missense_Mutation_p.E308K|ZNF211_ENST00000420680.1_Missense_Mutation_p.E321K|ZNF211_ENST00000391703.3_Missense_Mutation_p.E256K|ZNF211_ENST00000347302.3_Missense_Mutation_p.E317K|ZNF211_ENST00000299871.5_Missense_Mutation_p.E382K			Q13398	ZN211_HUMAN	zinc finger protein 211	317						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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)		TGCGTGCCCTGAATGTGGGAA	0.408000													18	79					0	0	0.006122	0	0
TTL	150465	broad.mit.edu	37	2	113251798	113251798	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:113251798C>G	ENST00000233336.5	+	3	506	c.315C>G	c.(313-315)ctC>ctG	p.L105L		NM_153712.4	NP_714923.1	Q8NG68	TTL_HUMAN	tubulin tyrosine ligase	105	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			breast(1)|large_intestine(2)|ovary(1)	4		Ovarian(717;0.024)		BRCA - Breast invasive adenocarcinoma(221;6.17e-07)|STAD - Stomach adenocarcinoma(1183;0.00644)		CAACCAATCTCAAGACTCCAG	0.443000			T	ETV6	ALL								10	52					0	0	0.001855	0	0
LMAN1L	79748	broad.mit.edu	37	15	75105354	75105354	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:75105354C>T	ENST00000309664.5	+	1	298	c.159C>T	c.(157-159)ttC>ttT	p.F53F	LMAN1L_ENST00000379709.3_Silent_p.F53F	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	53	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAATACCCTTCTGGAGCCATC	0.617000													23	31					0	0	0.003330	0	0
RICTOR	253260	broad.mit.edu	37	5	38944623	38944623	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:38944623C>T	ENST00000357387.3	-	36	4868	c.4838G>A	c.(4837-4839)cGc>cAc	p.R1613H	RICTOR_ENST00000296782.5_Missense_Mutation_p.R1637H	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1613					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					AACTTCTTTGCGAAGGAGTAT	0.333000													28	86					0	0	0.007291	0	0
CD80	941	broad.mit.edu	37	3	119246643	119246643	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:119246643C>T	ENST00000264246.3	-	6	1204	c.842G>A	c.(841-843)aGa>aAa	p.R281K	CD80_ENST00000478182.1_Missense_Mutation_p.R281K|CD80_ENST00000383668.3_Missense_Mutation_p.R155K|CD80_ENST00000383669.3_Missense_Mutation_p.R249K	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	281					interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)	ACTTTCCCTTCTCAATCTCTC	0.453000													11	95					0	0	0.002450	0	0
TRMT10A	93587	broad.mit.edu	37	4	100474995	100474995	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:100474995C>T	ENST00000273962.3	-	6	904	c.592G>A	c.(592-594)Gat>Aat	p.D198N	TRMT10A_ENST00000394876.2_Missense_Mutation_p.D198N|TRMT10A_ENST00000394877.3_Missense_Mutation_p.D198N	NM_152292.4	NP_689505.1			tRNA methyltransferase 10 homolog A (S. cerevisiae)																		TTTGATTCATCTAATTCCTTC	0.323000													6	45					0	0	0.001168	0	0
CBWD6	644019	broad.mit.edu	37	9	69238279	69238279	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:69238279T>C	ENST00000377457.5	-	8	718	c.613A>G	c.(613-615)Aca>Gca	p.T205A	CBWD6_ENST00000382399.4_Missense_Mutation_p.T185A|CBWD6_ENST00000377449.1_Missense_Mutation_p.T169A	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	205							ATP binding			lung(4)	4						ACCAAGTCTGTTTTATTAATG	0.313000													35	110					0	0	0.009718	0	0
FDCSP	260436	broad.mit.edu	37	4	71099858	71099858	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:71099858C>T	ENST00000317987.5	+	4	324	c.212C>T	c.(211-213)cCa>cTa	p.P71L		NM_152997.3	NP_694542.1	Q8NFU4	FDSCP_HUMAN	follicular dendritic cell secreted protein	71	Pro-rich.					extracellular region											TTTCCTATTCCAATACCTGAA	0.408000													42	85					0	0	0.006999	0	0
ACER1	125981	broad.mit.edu	37	19	6309843	6309843	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:6309843G>A	ENST00000301452.4	-	4	430	c.353C>T	c.(352-354)tCc>tTc	p.S118F		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	118						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GATGAACTGGGACCTGGGGAG	0.617000													6	32					0	0	0.001168	0	0
NGDN	25983	broad.mit.edu	37	14	23945265	23945265	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:23945265G>A	ENST00000397154.3	+	7	461	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	NGDN_ENST00000408901.3_Missense_Mutation_p.E150K			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	150	Necessary for interaction with EIF4E (By similarity).				regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GGAGGAAGATGAAGCAGAAGA	0.423000													5	61					0	0	0.000602	0	0
SYNE1	23345	broad.mit.edu	37	6	152770688	152770688	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:152770688C>G	ENST00000367255.5	-	28	4085	c.3484G>C	c.(3484-3486)Gag>Cag	p.E1162Q	SYNE1_ENST00000413186.2_Missense_Mutation_p.E1162Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1169Q|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1162Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E1162Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1228Q|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1152Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1169Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1162					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CGTTTAACCTCTCCGTGGTTG	0.403000										HNSCC(10;0.0054)			25	46					0	0	0.004656	0	0
AHCYL2	23382	broad.mit.edu	37	7	129028933	129028933	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:129028933C>T	ENST00000325006.3	+	3	566	c.512C>T	c.(511-513)tCg>tTg	p.S171L	AHCYL2_ENST00000531335.2_Missense_Mutation_p.S90L|AHCYL2_ENST00000446212.1_Missense_Mutation_p.S69L|AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000474594.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000490911.1_Missense_Mutation_p.S68L|AHCYL2_ENST00000446544.2_Missense_Mutation_p.S170L	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	171					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GATGAGACATCGCCCAGGGAC	0.398000													19	49					0	0	0.010504	0	0
PPP2R3B	28227	broad.mit.edu	37	X	306382	306382	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:306382G>A	ENST00000390665.3	-	7	923	c.905C>T	c.(904-906)gCg>gTg	p.A302V		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	302					cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity			endometrium(5)|lung(5)|skin(1)	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)				GTTGATGTCCGCCTCCTCCTC	0.637000													19	45					0	0	0.012319	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867698	7867698	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:7867698C>G	ENST00000264669.5	-	2	635	c.499G>C	c.(499-501)Gaa>Caa	p.E167Q	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	167					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						GGCTCCTTTTCAAACTGAAAG	0.413000													8	108					0	0	0.006214	0	0
ACER3	55331	broad.mit.edu	37	11	76709867	76709867	+	Splice_Site	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:76709867T>C	ENST00000532485.1	+	7	601		c.e7+2		ACER3_ENST00000533873.1_Splice_Site|ACER3_ENST00000538157.1_Splice_Site|ACER3_ENST00000544113.1_Splice_Site|ACER3_ENST00000526597.1_Splice_Site	NM_018367.5	NP_060837.3	Q9NUN7	ACER3_HUMAN	alkaline ceramidase 3						ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TGTTACATGGTAAGTAGTTTG	0.318000													7	29					0	0	0.004482	0	0
STRN	6801	broad.mit.edu	37	2	37126701	37126701	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:37126701C>T	ENST00000263918.4	-	6	768	c.760G>A	c.(760-762)Gat>Aat	p.D254N	STRN_ENST00000379213.2_Missense_Mutation_p.D242N	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	254					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TCTCTTCCATCAACATCATCA	0.338000													4	47					0	0	0.001168	0	0
MKRN3	7681	broad.mit.edu	37	15	23812217	23812217	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:23812217C>A	ENST00000314520.3	+	1	1764	c.1288C>A	c.(1288-1290)Cct>Act	p.P430T	MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	430						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)		GGGAGATGAGCCTCCTGGGCC	0.522000													15	46					5.01169e-05	5.23118e-05	0.004990	1	0
PRICKLE2	166336	broad.mit.edu	37	3	64085380	64085380	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:64085380T>A	ENST00000295902.6	-	8	2467	c.1882A>T	c.(1882-1884)Att>Ttt	p.I628F	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.I684F|RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	628						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)		CTGTAGCCAATGGGGTTGCTG	0.602000													35	34					0	0	0.003755	0	0
NELL2	4753	broad.mit.edu	37	12	45173642	45173642	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:45173642C>T	ENST00000429094.2	-	4	1003	c.499G>A	c.(499-501)Gac>Aac	p.D167N	NELL2_ENST00000551601.1_Missense_Mutation_p.D166N|NELL2_ENST00000437801.2_Missense_Mutation_p.D217N|NELL2_ENST00000333837.4_Missense_Mutation_p.D190N|NELL2_ENST00000452445.2_Missense_Mutation_p.D167N|NELL2_ENST00000547172.1_5'UTR|NELL2_ENST00000395487.2_Missense_Mutation_p.D166N|NELL2_ENST00000549027.1_Missense_Mutation_p.D166N	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	167	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		TTATTGCAGTCAATGTGTAAA	0.403000													8	82					0	0	0.003080	0	0
CNR1	1268	broad.mit.edu	37	6	88853849	88853849	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:88853849C>A	ENST00000537554.1	-	2	4707	c.1145G>T	c.(1144-1146)tGc>tTc	p.C382F	CNR1_ENST00000549716.1_Missense_Mutation_p.C321F|CNR1_ENST00000369499.2_Missense_Mutation_p.C382F|CNR1_ENST00000428600.2_Missense_Mutation_p.C382F|CNR1_ENST00000369501.2_Missense_Mutation_p.C382F|CNR1_ENST00000549890.1_Missense_Mutation_p.C382F|CNR1_ENST00000468898.1_Missense_Mutation_p.C349F|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000535130.1_Missense_Mutation_p.C382F	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	382					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	GAGCATACTGCAGAATGCAAA	0.507000													18	49					3.51602e-12	3.80902e-12	0.008871	1	0
FASTKD3	79072	broad.mit.edu	37	5	7867461	7867461	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:7867461C>T	ENST00000264669.5	-	2	872	c.736G>A	c.(736-738)Gaa>Aaa	p.E246K	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	246					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						TCCAATTTTTCACCTTGAAGT	0.373000													9	119					0	0	0.004482	0	0
DIAPH3	81624	broad.mit.edu	37	13	60557957	60557957	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr13:60557957C>A	ENST00000400324.4	-	13	1646	c.1426G>T	c.(1426-1428)Gat>Tat	p.D476Y	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.D406Y|DIAPH3_ENST00000400320.1_Missense_Mutation_p.D430Y|DIAPH3_ENST00000400330.1_Missense_Mutation_p.D476Y|DIAPH3_ENST00000377908.2_Missense_Mutation_p.D465Y|DIAPH3_ENST00000267215.4_Missense_Mutation_p.D476Y	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	476	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAGTCTGGATCCATTCCATCT	0.294000													31	68					3.03874e-20	3.34261e-20	0.003271	1	0
MOS	4342	broad.mit.edu	37	8	57025630	57025630	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:57025630G>A	ENST00000311923.1	-	1	911	c.912C>T	c.(910-912)ttC>ttT	p.F304F		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	304	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGAGTCCTCGAAGACGGCAG	0.682000													6	29					0	0	0.001168	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975151	31975151	+	RNA	SNP	T	T	G	rs115914286	by1000genomes	TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:31975151T>G	ENST00000342991.6	+	0	1274					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GGAAGGGCACTTGCACATGGC	0.607000													3	22					0	0	0.004672	0	0
CXorf40B	541578	broad.mit.edu	37	X	149101932	149101932	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:149101932C>T	ENST00000370406.3	-	4	989	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	CXorf40B_ENST00000462691.1_Missense_Mutation_p.R54Q|CXorf40B_ENST00000370404.1_Missense_Mutation_p.R54Q|CXorf40B_ENST00000355203.2_Missense_Mutation_p.R54Q			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	54										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCAGCTCCCGACAGGCATC	0.587000													45	24					0	0	0.014410	0	0
KIAA0556	23247	broad.mit.edu	37	16	27720105	27720105	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:27720105C>T	ENST00000261588.4	+	13	1488	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	KIAA0556_ENST00000567894.1_3'UTR|CTD-2049O4.1_ENST00000564893.1_RNA|CTD-2049O4.1_ENST00000568831.1_RNA|CTD-2049O4.1_ENST00000563052.1_RNA	NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	490										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGGGCAACTCGTGGTGGGTG	0.488000													7	59					0	0	0.001984	0	0
ANGPTL7	10218	broad.mit.edu	37	1	11249656	11249656	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:11249656C>G	ENST00000376819.3	+	1	259	c.20C>G	c.(19-21)tCa>tGa	p.S7*	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	7					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		AAGCCTCTCTCAGCTGTGACC	0.557000													18	138					0	0	0.006122	0	0
UBBP4	23666	broad.mit.edu	37	17	21731144	21731144	+	Missense_Mutation	SNP	T	T	G	rs149119138	by1000genomes	TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:21731144T>G	ENST00000584755.1	+	2	843	c.446T>G	c.(445-447)cTg>cGg	p.L149R	UBBP4_ENST00000578713.1_Missense_Mutation_p.L149R|UBBP4_ENST00000583708.1_3'UTR|UBBP4_ENST00000584398.1_3'UTR														p.L149R(18)		endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GTCCTGCGTCTGAGAGGTGGT	0.542000													5	54					0	0	0.001168	0	0
CA14	23632	broad.mit.edu	37	1	150235226	150235226	+	Silent	SNP	T	T	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:150235226T>G	ENST00000369111.4	+	6	1489	c.519T>G	c.(517-519)gcT>gcG	p.A173A		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	173						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	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)			AGAATATAGCTTATGAACACA	0.363000													55	91					0	0	0.014410	0	0
FANCA	2175	broad.mit.edu	37	16	89849296	89849296	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:89849296C>T	ENST00000389301.3	-	17	1627	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	FANCA_ENST00000568369.1_Missense_Mutation_p.D533N	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	533					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GATGACAAATCCTCGTAGAGT	0.488000			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	40					0	0	0.004482	0	0
MTR	4548	broad.mit.edu	37	1	236995364	236995364	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:236995364G>T	ENST00000366577.5	+	13	1568	c.1174G>T	c.(1174-1176)Gca>Tca	p.A392S	MTR_ENST00000535889.1_Missense_Mutation_p.A392S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	392	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	ACTCATCATGGCAGGAAACTA	0.448000													6	48					2.0095e-06	2.12072e-06	0.001984	1	0
ZNF292	23036	broad.mit.edu	37	6	87969609	87969609	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:87969609G>C	ENST00000369577.3	+	8	6305	c.6262G>C	c.(6262-6264)Gaa>Caa	p.E2088Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E2083Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2088					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCATAAAAAAGAAAAGGAGGA	0.388000													7	45					0	0	0.003080	0	0
DNAJC13	23317	broad.mit.edu	37	3	132196904	132196904	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:132196904C>T	ENST00000260818.6	+	24	2877	c.2629C>T	c.(2629-2631)Ctt>Ttt	p.L877F		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	877							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TTTACAAGCCCTTGCTATTGT	0.333000													22	92					0	0	0.010504	0	0
SIK3	23387	broad.mit.edu	37	11	116729228	116729228	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:116729228G>C	ENST00000375300.1	-	20	2814	c.2809C>G	c.(2809-2811)Cag>Gag	p.Q937E	SIK3_ENST00000446921.2_Missense_Mutation_p.Q877E|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Missense_Mutation_p.Q718E|SIK3_ENST00000292055.4_Missense_Mutation_p.Q879E|SIK3_ENST00000375288.1_Missense_Mutation_p.Q214E|SIK3_ENST00000542607.1_Missense_Mutation_p.Q819E			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	879	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGCGGCTGCTGATGTGCACTG	0.587000													12	107					0	0	0.001855	0	0
CSF2RA	1438	broad.mit.edu	37	X	1407734	1407734	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:1407734G>A	ENST00000381524.3	+	6	612	c.426G>A	c.(424-426)ccG>ccA	p.P142P	CSF2RA_ENST00000361536.3_Silent_p.P142P|CSF2RA_ENST00000432318.2_Silent_p.P142P|CSF2RA_ENST00000355432.3_Silent_p.P142P|CSF2RA_ENST00000355805.2_Silent_p.P142P|CSF2RA_ENST00000417535.2_Silent_p.P142P|CSF2RA_ENST00000381500.1_Silent_p.P142P|CSF2RA_ENST00000501036.2_Silent_p.P9P|CSF2RA_ENST00000381509.3_Silent_p.P142P|CSF2RA_ENST00000381529.3_Silent_p.P142P			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	142						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		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)			Sargramostim(DB00020)	CGAGGGGTCCGACGGCCCCCC	0.478000													53	68					0	0	0.014410	0	0
MTMR8	55613	broad.mit.edu	37	X	63555987	63555987	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:63555987T>A	ENST00000374852.3	-	10	1190	c.1123A>T	c.(1123-1125)Ata>Tta	p.I375L	MTMR8_ENST00000453546.1_Intron|MTMR8_ENST00000478487.1_Intron	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	375	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CCCATGGATATCCATTCCTTC	0.338000													33	10					0	0	0.006999	0	0
FCGBP	8857	broad.mit.edu	37	19	40368715	40368715	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:40368715G>A	ENST00000221347.6	-	28	12640	c.12633C>T	c.(12631-12633)ggC>ggT	p.G4211G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4211	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCACACTGCGCCATGATAGC	0.597000													31	348					0	0	0.008740	0	0
KCNS3	3790	broad.mit.edu	37	2	18113159	18113159	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:18113159T>G	ENST00000403915.1	+	3	1335	c.884T>G	c.(883-885)aTg>aGg	p.M295R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.M295R			Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	295					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTACGGCTTATGAGGATTTTC	0.498000													30	61					0	0	0.009535	0	0
HOOK2	29911	broad.mit.edu	37	19	12878702	12878702	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:12878702G>A	ENST00000264827.5	-	13	1401	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Missense_Mutation_p.R411W	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	411	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AAGGAGTCCCGCTCCGCCAAC	0.677000													21	22					0	0	0.010504	0	0
MFSD6L	162387	broad.mit.edu	37	17	8701980	8701980	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:8701980G>A	ENST00000329805.4	-	1	687	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	153						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GTGGGTTTCTGAAGCCAGGCA	0.582000													11	93					0	0	0.008291	0	0
FAT3	120114	broad.mit.edu	37	11	92624013	92624013	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:92624013G>A	ENST00000298047.6	+	27	13521	c.13504G>A	c.(13504-13506)Gaa>Aaa	p.E4502K	FAT3_ENST00000533797.1_Missense_Mutation_p.E805K|FAT3_ENST00000409404.2_Missense_Mutation_p.E4470K|FAT3_ENST00000525166.1_Missense_Mutation_p.E4352K|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4502	Pro-rich.				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)				ATTCCCCAACGAAACGGATTT	0.592000										TCGA Ovarian(4;0.039)			17	29					0	0	0.007413	0	0
HERC4	26091	broad.mit.edu	37	10	69699408	69699408	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:69699408G>A	ENST00000395198.3	-	22	2779	c.2532C>T	c.(2530-2532)agC>agT	p.S844S	HERC4_ENST00000373700.4_Silent_p.S836S|HERC4_ENST00000412272.2_Intron|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000277817.6_Silent_p.S734S	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	844	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						ACTGTTGCATGCTTCTGCAAA	0.284000													10	34					0	0	0.006214	0	0
NOTCH4	4855	broad.mit.edu	37	6	32169064	32169064	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:32169064C>G	ENST00000375023.3	-	22	4107	c.3969G>C	c.(3967-3969)ctG>ctC	p.L1323L		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1323					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTCCTACCCTCAGAGTCAGGG	0.642000													7	67					0	0	0.001984	0	0
SNX5	27131	broad.mit.edu	37	20	17937598	17937598	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:17937598G>C	ENST00000377768.3	-	3	447	c.135C>G	c.(133-135)gtC>gtG	p.V45V	SNX5_ENST00000483485.1_5'UTR|SNX5_ENST00000377759.4_Silent_p.V45V	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	45	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						CTGTAAATTTGACTTTGTCTC	0.423000													16	57					0	0	0.010504	0	0
PDGFRB	5159	broad.mit.edu	37	5	149516593	149516593	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:149516593C>T	ENST00000261799.4	-	2	487	c.18G>A	c.(16-18)gcG>gcA	p.A6A		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	6					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAGCTGGCATCGCACCCGGAA	0.647000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								3	21					0	0	0.004672	0	0
CUX2	23316	broad.mit.edu	37	12	111785464	111785464	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:111785464G>A	ENST00000261726.6	+	22	3950	c.3796G>A	c.(3796-3798)Gag>Aag	p.E1266K		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1266						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCTGAGACTGAGGACCAGAA	0.622000													11	32					0	0	0.008291	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175902	140175902	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:140175902C>T	ENST00000526136.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA2_ENST00000378132.1_Silent_p.N451N|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.N451N|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCGCCGGCGT	0.647000													39	44					0	0	0.006999	0	0
ADIG	149685	broad.mit.edu	37	20	37209995	37209995	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:37209995G>A	ENST00000537425.1	+	1	158	c.87G>A	c.(85-87)tgG>tgA	p.W29*	ADIG_ENST00000373348.3_Nonsense_Mutation_p.W34*	NM_001018082.1	NP_001018092.1	Q0VDE8	ADIG_HUMAN	adipogenin	34					brown fat cell differentiation|positive regulation of fat cell differentiation|white fat cell differentiation	cytoplasm|integral to membrane|nucleus				endometrium(1)|kidney(1)	2		Myeloproliferative disorder(115;0.00878)				TGATCATCTGGCTACGCTTCT	0.517000													40	49					0	0	0.013114	0	0
ABCB5	340273	broad.mit.edu	37	7	20689665	20689665	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:20689665C>G	ENST00000404938.2	+	12	1879	c.1227C>G	c.(1225-1227)ctC>ctG	p.L409L	ABCB5_ENST00000477094.1_3'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000406935.1_5'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	593	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GTCTGAATCTCAGAATTAAGT	0.413000													4	17					0	0	0.009096	0	0
IGSF1	3547	broad.mit.edu	37	X	130412064	130412064	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:130412064C>T	ENST00000370904.1	-	19	2969	c.2059G>A	c.(2059-2061)Ggc>Agc	p.G687S	IGSF1_ENST00000370903.3_Missense_Mutation_p.G701S|IGSF1_ENST00000370910.1_Missense_Mutation_p.G687S|IGSF1_ENST00000361420.3_Missense_Mutation_p.G696S			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	696	Ig-like C2-type 7.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						AGTTCCTGGCCCCGGATTGTG	0.532000													37	18					0	0	0.007835	0	0
DMTF1	9988	broad.mit.edu	37	7	86817567	86817567	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:86817567C>T	ENST00000414194.2	+	13	2355	c.563C>T	c.(562-564)tCt>tTt	p.S188F	DMTF1_ENST00000432937.2_Missense_Mutation_p.S366F|DMTF1_ENST00000394703.5_Missense_Mutation_p.S454F|DMTF1_ENST00000413276.2_Intron|DMTF1_ENST00000331242.7_Missense_Mutation_p.S454F			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	454	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ACAGCCATCTCTTCTAGCCCC	0.423000													56	114					0	0	0.014410	0	0
NPAS4	266743	broad.mit.edu	37	11	66191403	66191403	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:66191403G>A	ENST00000311034.2	+	7	1218	c.1042G>A	c.(1042-1044)Gaa>Aaa	p.E348K		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	348					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTCATTCCCTGAAAACATTCT	0.577000													29	181					0	0	0.012213	0	0
MYF5	4617	broad.mit.edu	37	12	81112735	81112735	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:81112735C>A	ENST00000228644.3	+	3	825	c.673C>A	c.(673-675)Cag>Aag	p.Q225K		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	225					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTGCCTCTCCAGGATCTGGC	0.488000													25	60					7.41945e-09	7.88834e-09	0.005443	1	0
OR10AG1	282770	broad.mit.edu	37	11	55735780	55735780	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:55735780G>C	ENST00000312345.2	-	1	210	c.160C>G	c.(160-162)Ctt>Gtt	p.L54V		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATTGCTAAGAAAAAAATAC	0.328000													15	81					0	0	0.004990	0	0
CAPNS2	84290	broad.mit.edu	37	16	55601232	55601232	+	Silent	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:55601232A>G	ENST00000457326.2	+	1	649	c.564A>G	c.(562-564)caA>caG	p.Q188Q	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	188	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						TAAATGAACAACTTTACCAAA	0.483000													47	88					0	0	0.014410	0	0
FURIN	5045	broad.mit.edu	37	15	91422758	91422758	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:91422758C>G	ENST00000268171.3	+	10	1417	c.1138C>G	c.(1138-1140)Ctc>Gtc	p.L380V		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	380					cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CATCATTGCTCTCACCCTGGA	0.627000													4	31					0	0	0.000602	0	0
ZNFX1	57169	broad.mit.edu	37	20	47863847	47863847	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:47863847G>A	ENST00000396105.1	-	14	5960	c.5714C>T	c.(5713-5715)gCc>gTc	p.A1905V	ZNFX1_ENST00000371752.1_Missense_Mutation_p.A1905V|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1905							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAGGTTGTTGGCCGTGTCAGA	0.522000													30	64					0	0	0.009535	0	0
MTMR9	66036	broad.mit.edu	37	8	11172549	11172549	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:11172549C>T	ENST00000221086.3	+	7	1562	c.1089C>T	c.(1087-1089)gcC>gcT	p.A363A	MTMR9_ENST00000526292.1_Silent_p.A278A	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	363	Myotubularin phosphatase.					cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		GTTTTGAGGCCCTGATTGAAA	0.483000													48	114					0	0	0.014410	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198509756	198509756	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:198509756G>A	ENST00000309309.7	-	2	130	c.25C>T	c.(25-27)Cac>Tac	p.H9Y	ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.H9Y|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.H9Y	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	9					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						AGAAGCTGGTGGATCCCCTGA	0.458000													43	70					0	0	0.014410	0	0
SPEG	10290	broad.mit.edu	37	2	220354138	220354138	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:220354138C>T	ENST00000312358.7	+	36	8530	c.8398C>T	c.(8398-8400)Cct>Tct	p.P2800S	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2800	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TCCTGACTCTCCTACCTCACT	0.627000													4	15					0	0	0.001168	0	0
RNF14	9604	broad.mit.edu	37	5	141353158	141353158	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:141353158C>T	ENST00000394520.2	+	3	314	c.5C>T	c.(4-6)tCg>tTg	p.S2L	RNF14_ENST00000394515.3_Missense_Mutation_p.S2L|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000356143.1_Missense_Mutation_p.S2L|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000347642.3_Missense_Mutation_p.S2L|RNF14_ENST00000394519.1_Missense_Mutation_p.S2L|RNF14_ENST00000540015.1_Missense_Mutation_p.S2L	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	2					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding	p.S2L(1)		cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTCCTTATGTCGTCAGAAGAT	0.463000													8	37					0	0	0.004482	0	0
DDX23	9416	broad.mit.edu	37	12	49225034	49225034	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:49225034G>C	ENST00000308025.3	-	16	2209	c.2130C>G	c.(2128-2130)ctC>ctG	p.L710L		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	710	Helicase C-terminal.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCCCAGCCTTGAGGTTGGACA	0.483000													19	146					0	0	0.008871	0	0
HS3ST5	222537	broad.mit.edu	37	6	114378934	114378934	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:114378934G>A	ENST00000312719.5	-	5	1716	c.528C>T	c.(526-528)atC>atT	p.I176I	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.I176I|RP3-399L15.3_ENST00000523087.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	176					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		TCAACAACTTGATGGATGAGT	0.403000													43	247					0	0	0.011902	0	0
POLK	51426	broad.mit.edu	37	5	74879221	74879221	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:74879221C>G	ENST00000241436.4	+	8	1210	c.1038C>G	c.(1036-1038)atC>atG	p.I346M	POLK_ENST00000515295.1_Missense_Mutation_p.I346M|POLK_ENST00000508526.1_Intron|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000504026.1_Missense_Mutation_p.I346M|POLK_ENST00000352007.5_Intron|POLK_ENST00000380481.3_Missense_Mutation_p.I256M	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	346	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		TGGACTTCATCAAGGATTTAC	0.323000								DNA polymerases (catalytic subunits)					17	37					0	0	0.006122	0	0
DCTN6	10671	broad.mit.edu	37	8	30038087	30038087	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:30038087G>C	ENST00000221114.3	+	6	502	c.415G>C	c.(415-417)Gag>Cag	p.E139Q	DCTN6_ENST00000520829.1_Missense_Mutation_p.E139Q|RP11-51J9.4_ENST00000523733.1_RNA	NM_006571.3	NP_006562.1	O00399	DCTN6_HUMAN	dynactin 6	139						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		AGTCATCCCTGAGAATACGGT	0.438000													10	43					0	0	0.008291	0	0
XYLT2	64132	broad.mit.edu	37	17	48432263	48432263	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:48432263G>C	ENST00000017003.2	+	4	902	c.853G>C	c.(853-855)Gat>Cat	p.D285H	XYLT2_ENST00000507602.1_Missense_Mutation_p.D285H	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	285					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					CCAGGGCTATGATAACGTGCG	0.642000													7	86					0	0	0.001984	0	0
FLG2	388698	broad.mit.edu	37	1	152324824	152324824	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:152324824G>A	ENST00000388718.5	-	3	5510	c.5438C>T	c.(5437-5439)tCa>tTa	p.S1813L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1813							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGAACCCTGAGTGCCCTTC	0.537000													61	149					0	0	0.014410	0	0
RBM18	92400	broad.mit.edu	37	9	125004258	125004258	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:125004258C>G	ENST00000417201.3	-	6	618	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	RBM18_ENST00000483428.1_5'UTR	NM_033117.3	NP_149108.1	Q96H35	RBM18_HUMAN	RNA binding motif protein 18	160							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						GCTGGATACTCTGCATCAGGA	0.408000													13	78					0	0	0.013537	0	0
UBA6	55236	broad.mit.edu	37	4	68543386	68543386	+	Silent	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:68543386T>A	ENST00000322244.4	-	6	467	c.408A>T	c.(406-408)acA>acT	p.T136T	UBA6_ENST00000420827.2_Silent_p.T136T	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	136					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						CAGAAGATGATGTGACATGAA	0.308000													28	38					0	0	0.010818	0	0
RIN3	79890	broad.mit.edu	37	14	93118912	93118912	+	Silent	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:93118912T>A	ENST00000216487.7	+	6	1677	c.1518T>A	c.(1516-1518)tcT>tcA	p.S506S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	506	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTGCTTCTCAGGCTGGGA	0.652000													20	40					0	0	0.010504	0	0
SLC26A5	375611	broad.mit.edu	37	7	103017279	103017279	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:103017279A>G	ENST00000306312.3	-	19	2278	c.2017T>C	c.(2017-2019)Tat>Cat	p.Y673H	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393723.1_Missense_Mutation_p.Y643H|SLC26A5_ENST00000393730.1_Missense_Mutation_p.Y641H|SLC26A5_ENST00000393727.1_Missense_Mutation_p.Y675H|SLC26A5_ENST00000339444.6_Missense_Mutation_p.Y673H|SLC26A5_ENST00000354356.4_Missense_Mutation_p.Y106H|SLC26A5_ENST00000432958.2_Missense_Mutation_p.Y641H|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000393729.1_Missense_Mutation_p.Y636H	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	673	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAGTATACATATATACCGACG	0.313000													14	58					0	0	0.004990	0	0
SYCP2L	221711	broad.mit.edu	37	6	10894396	10894396	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:10894396G>C	ENST00000283141.6	+	4	591	c.295G>C	c.(295-297)Gaa>Caa	p.E99Q	SYCP2L_ENST00000543878.1_5'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	99						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TGGCCTGAAAGAAGATGAACC	0.383000													5	131					0	0	0.000602	0	0
PRDM10	56980	broad.mit.edu	37	11	129780421	129780421	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:129780421G>A	ENST00000358825.5	-	20	3356	c.3125C>T	c.(3124-3126)tCt>tTt	p.S1042F	PRDM10_ENST00000526082.1_Missense_Mutation_p.S956F|PRDM10_ENST00000360871.3_Missense_Mutation_p.S1038F|PRDM10_ENST00000528746.1_Missense_Mutation_p.S999F|PRDM10_ENST00000423662.2_Missense_Mutation_p.S943F|PRDM10_ENST00000304538.6_Missense_Mutation_p.S905F	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1029					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTGCTGCACAGAGGAATTctg	0.607000													11	45					0	0	0.008291	0	0
ECHS1	1892	broad.mit.edu	37	10	135176399	135176399	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:135176399C>G	ENST00000368547.3	-	8	1201	c.846G>C	c.(844-846)aaG>aaC	p.K282N		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	282					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		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)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TGGCCTTTCTCTTTTCCACAA	0.517000													4	75					0	0	0.000602	0	0
PODXL2	50512	broad.mit.edu	37	3	127379318	127379318	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:127379318G>A	ENST00000342480.6	+	3	486	c.447G>A	c.(445-447)atG>atA	p.M149I		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	149					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						TGCCCAAGATGAATCTGGTTG	0.512000													17	68					0	0	0.008871	0	0
RAB23	51715	broad.mit.edu	37	6	57061369	57061369	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:57061369C>T	ENST00000317483.3	-	4	896	c.277G>A	c.(277-279)Gat>Aat	p.D93N	RAB23_ENST00000468148.1_Missense_Mutation_p.D93N	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	93					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GATTCCCTATCTGTGGTAGAG	0.383000													6	65					0	0	0.001168	0	0
MAP2K2	5605	broad.mit.edu	37	19	4101137	4101137	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:4101137C>G	ENST00000262948.5	-	6	838	c.585G>C	c.(583-585)gtG>gtC	p.V195V	MAP2K2_ENST00000394867.4_Silent_p.V98V|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	195	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|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|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGAGGGCTTCACATCTGGAG	0.662000													6	13					0	0	0.001984	0	0
APBB1IP	54518	broad.mit.edu	37	10	26789781	26789781	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:26789781A>G	ENST00000376236.4	+	5	649	c.194A>G	c.(193-195)gAt>gGt	p.D65G	APBB1IP_ENST00000356785.4_Missense_Mutation_p.D65G	NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	65					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						CAAGATTTAGATGCTCTCATG	0.403000													14	51					0	0	0.002450	0	0
GABRA1	2554	broad.mit.edu	37	5	161322867	161322867	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:161322867C>A	ENST00000428797.2	+	10	1407	c.1052C>A	c.(1051-1053)cCa>cAa	p.P351Q	GABRA1_ENST00000437025.2_Missense_Mutation_p.P351Q|GABRA1_ENST00000023897.6_Missense_Mutation_p.P351Q|GABRA1_ENST00000444819.1_Missense_Mutation_p.P351Q|GABRA1_ENST00000393943.4_Missense_Mutation_p.P351Q|GABRA1_ENST00000420560.1_Missense_Mutation_p.P351Q	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	351					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGTGTGGTTCCAGAAAAGGTA	0.398000													31	35					4.74835e-14	5.16361e-14	0.010818	1	0
RDH13	112724	broad.mit.edu	37	19	55559839	55559839	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:55559839G>C	ENST00000396247.3	-	6	775	c.303C>G	c.(301-303)ctC>ctG	p.L101L	CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000415061.3_Silent_p.L172L	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	172							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCAGGGACGAGAGGTTGATGA	0.512000													5	67					0	0	0.000602	0	0
NOP58	51602	broad.mit.edu	37	2	203157551	203157551	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:203157551C>T	ENST00000264279.5	+	9	1058	c.832C>T	c.(832-834)Cga>Tga	p.R278*		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	278	Nop.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TCTACAAAATCGAATGATGGC	0.358000													7	106					0	0	0.003080	0	0
DNTTIP2	30836	broad.mit.edu	37	1	94342038	94342038	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:94342038C>T	ENST00000436063.2	-	2	1510	c.1453G>A	c.(1453-1455)Gac>Aac	p.D485N	DNTTIP2_ENST00000460191.1_5'UTR	NM_014597.4	NP_055412.2	Q5QJE6	TDIF2_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 2	485					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	38		all_lung(203;0.0111)|Lung NSC(277;0.0347)		all cancers(265;0.00679)|GBM - Glioblastoma multiforme(16;0.0278)|Epithelial(280;0.128)		AATGCATTGTCACATGACAGA	0.393000													23	41					0	0	0.012319	0	0
SEMA5A	9037	broad.mit.edu	37	5	9052056	9052056	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:9052056G>T	ENST00000382496.5	-	20	3439	c.2774C>A	c.(2773-2775)cCc>cAc	p.P925H		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	925	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						GCTGCCCATGGGGAACAGGAG	0.572000													10	32					0.000978159	0.00100994	0.010729	1	0
DNAJC6	9829	broad.mit.edu	37	1	65858191	65858191	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:65858191G>T	ENST00000395325.3	+	12	1532	c.1375G>T	c.(1375-1377)Gaa>Taa	p.E459*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E516*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E446*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	459					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAGATGATGAACTTCTGAC	0.512000													11	25					1.61879e-10	1.74051e-10	0.013537	1	0
PIGA	5277	broad.mit.edu	37	X	15349714	15349714	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:15349714G>A	ENST00000333590.4	-	2	423	c.339C>T	c.(337-339)ctC>ctT	p.L113L	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Intron	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	113					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					ATATGTACCTGAGCAATGGCA	0.478000													43	10					0	0	0.013114	0	0
PKHD1	5314	broad.mit.edu	37	6	51890330	51890330	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:51890330C>T	ENST00000371117.3	-	32	4553	c.4278G>A	c.(4276-4278)tcG>tcA	p.S1426S	PKHD1_ENST00000340994.4_Silent_p.S1426S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1426	IPT/TIG 9.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TAAAAGGACCCGAGAGGTCAA	0.537000													28	110					0	0	0.007291	0	0
LIFR	3977	broad.mit.edu	37	5	38510674	38510674	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:38510674C>T	ENST00000263409.4	-	7	1045	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.E295K	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	295					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GCAACATTTTCCCCATCAAGA	0.363000			T	PLAG1	salivary adenoma								5	79					0	0	0.000602	0	0
COL3A1	1281	broad.mit.edu	37	2	189873853	189873853	+	Silent	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:189873853A>G	ENST00000304636.3	+	48	3899	c.3729A>G	c.(3727-3729)ggA>ggG	p.G1243G	COL3A1_ENST00000317840.5_Silent_p.G940G	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1243	Fibrillar collagen NC1.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGTTAATGGACAAATAGAAA	0.423000													5	106					0	0	0.000602	0	0
C4BPA	722	broad.mit.edu	37	1	207286390	207286390	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:207286390C>T	ENST00000367070.3	+	2	214	c.20C>T	c.(19-21)cCa>cTa	p.P7L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	7					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						CCAAAAACTCCATCTGGGGCT	0.443000													16	32					0	0	0.004007	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19568091	19568091	+	Splice_Site	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:19568091C>T	ENST00000397821.3	-	14	1785		c.e14+1		SH3KBP1_ENST00000541422.1_Splice_Site|SH3KBP1_ENST00000379698.4_Splice_Site|SH3KBP1_ENST00000379716.1_Splice_Site	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1						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						GAGACACTTACAGATGTGAGG	0.488000													5	74					0	0	0.001168	0	0
MICALL1	85377	broad.mit.edu	37	22	38323542	38323542	+	Silent	SNP	G	G	A	rs138192828		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:38323542G>A	ENST00000215957.6	+	9	1716	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	530	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					TTCTGGAGCCGCCAGCTGTGC	0.657000													33	53					0	0	0.010818	0	0
LMAN1L	79748	broad.mit.edu	37	15	75105240	75105240	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:75105240C>G	ENST00000309664.5	+	1	184	c.45C>G	c.(43-45)ctC>ctG	p.L15L	LMAN1L_ENST00000379709.3_Silent_p.L15L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	15						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCTTCTCCTCCTGCTCCTGG	0.632000													33	60					0	0	0.012213	0	0
ADAMTS4	9507	broad.mit.edu	37	1	161166083	161166083	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:161166083C>A	ENST00000367996.4	-	3	1396	c.968G>T	c.(967-969)gGa>gTa	p.G323V	ADAMTS4_ENST00000367995.3_3'UTR	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	323	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AGTGGAGACTCCACACAGGTC	0.597000													12	59					3.07112e-06	3.22919e-06	0.010729	1	0
PURG	29942	broad.mit.edu	37	8	30889927	30889927	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:30889927C>T	ENST00000475541.1	-	1	1304	c.372G>A	c.(370-372)gaG>gaA	p.E124E	PURG_ENST00000339382.2_Silent_p.E124E	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	124						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGGCATAGTGCTCGATGAAGT	0.597000													15	92					0	0	0.003163	0	0
SLC5A2	6524	broad.mit.edu	37	16	31498885	31498885	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:31498885C>G	ENST00000330498.3	+	7	709	c.690C>G	c.(688-690)ttC>ttG	p.F230L	AC026471.6_ENST00000565137.1_RNA	NM_003041.3	NP_003032.1	P31639	SC5A2_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 2	230					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						CGGGTCTCTTCGACAAATACC	0.652000													4	85					0	0	0.000602	0	0
APOBEC3H	164668	broad.mit.edu	37	22	39497505	39497505	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:39497505C>T	ENST00000442487.3	+	3	541	c.414C>T	c.(412-414)ttC>ttT	p.F138F	APOBEC3H_ENST00000421988.2_Silent_p.F138F|APOBEC3H_ENST00000348946.4_Silent_p.F138F|APOBEC3H_ENST00000401756.1_Silent_p.F138F	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	138					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TCATGGGCTTCCCAAGTAGGA	0.627000													13	47					0	0	0.003163	0	0
RBPMS	11030	broad.mit.edu	37	8	30402106	30402106	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:30402106C>G	ENST00000320203.4	+	6	1075	c.493C>G	c.(493-495)Cct>Gct	p.P165A	RBPMS_ENST00000287771.5_Missense_Mutation_p.P165A|RBPMS_ENST00000397323.4_Missense_Mutation_p.P165A|RBPMS_ENST00000520161.1_Missense_Mutation_p.P61A|RBPMS_ENST00000519647.1_Missense_Mutation_p.P61A|RBPMS_ENST00000517860.1_Missense_Mutation_p.P165A|RBPMS_ENST00000520191.1_Missense_Mutation_p.P61A|RBPMS_ENST00000339877.4_Missense_Mutation_p.P165A|RBPMS_ENST00000538486.1_Intron	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	165					positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		TCTACCTCCTCCTGCTTTCAC	0.562000													8	159					0	0	0.004482	0	0
COL5A1	1289	broad.mit.edu	37	9	137623932	137623932	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:137623932G>T	ENST00000371817.3	+	9	1762	c.1348G>T	c.(1348-1350)Ggc>Tgc	p.G450C		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	450	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGACCTCGGGGCGAGAAAGG	0.527000													67	56					7.07328e-35	7.87144e-35	0.014410	1	0
CLIP1	6249	broad.mit.edu	37	12	122794385	122794385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:122794385G>T	ENST00000358808.2	-	19	3639	c.3485C>A	c.(3484-3486)tCa>tAa	p.S1162*	CLIP1_ENST00000361654.4_Nonsense_Mutation_p.S1051*|CLIP1_ENST00000302528.7_Nonsense_Mutation_p.S1162*|CLIP1_ENST00000545889.1_Nonsense_Mutation_p.S748*|CLIP1_ENST00000540338.1_Nonsense_Mutation_p.S1173*|CLIP1_ENST00000537178.1_Nonsense_Mutation_p.S1127*	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1173					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCAACGCTGAAAGCTGCTG	0.507000													19	39					6.94344e-10	7.43755e-10	0.006122	1	0
CNTN6	27255	broad.mit.edu	37	3	1363508	1363508	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:1363508C>G	ENST00000446702.2	+	8	1563	c.936C>G	c.(934-936)ctC>ctG	p.L312L	CNTN6_ENST00000350110.2_Silent_p.L312L|CNTN6_ENST00000539053.1_Silent_p.L240L			Q9UQ52	CNTN6_HUMAN	contactin 6	312					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AGGGTCAACTCATTTTTTATG	0.348000													21	25					0	0	0.003330	0	0
ATG2B	55102	broad.mit.edu	37	14	96807957	96807957	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:96807957C>T	ENST00000359933.4	-	6	1719	c.826G>A	c.(826-828)Gag>Aag	p.E276K		NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN	autophagy related 2B	276										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGTGCTATCTCTGGTAAATTT	0.438000													16	82					0	0	0.004990	0	0
ZNF266	10781	broad.mit.edu	37	19	9528555	9528555	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:9528555A>T	ENST00000592904.1	-	3	2140	c.64T>A	c.(64-66)Tct>Act	p.S22T	ZNF266_ENST00000361451.2_Missense_Mutation_p.S22T|ZNF266_ENST00000361151.1_Missense_Mutation_p.S22T|ZNF266_ENST00000592292.1_Missense_Mutation_p.S22T|ZNF266_ENST00000590306.1_Missense_Mutation_p.S22T|ZNF266_ENST00000588933.1_Missense_Mutation_p.S22T|ZNF266_ENST00000588221.1_Missense_Mutation_p.S22T			Q14584	ZN266_HUMAN	zinc finger protein 266	22	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TCCAGCCAAGAGATCAGACTG	0.438000													61	111					0	0	0.014410	0	0
SCN8A	6334	broad.mit.edu	37	12	52099309	52099309	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:52099309G>A	ENST00000354534.5	+	10	1421	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	SCN8A_ENST00000550891.1_Missense_Mutation_p.E415K|SCN8A_ENST00000545061.1_Missense_Mutation_p.E415K	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	415					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CATGGCTTATGAAGAACAGAA	0.453000													4	33					0	0	0.009096	0	0
FASTKD3	79072	broad.mit.edu	37	5	7867642	7867642	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:7867642C>G	ENST00000264669.5	-	2	691	c.555G>C	c.(553-555)ctG>ctC	p.L185L	FASTKD3_ENST00000513658.1_Intron|MTRR_ENST00000502509.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	185					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						GCAACAGAATCAGAGCTTGCA	0.433000													10	127					0	0	0.006214	0	0
ATMIN	23300	broad.mit.edu	37	16	81077197	81077197	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:81077197G>C	ENST00000566488.1	+	3	1589	c.626G>C	c.(625-627)aGc>aCc	p.S209T	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.S209T|ATMIN_ENST00000299575.4_Missense_Mutation_p.S365T			O43313	ATMIN_HUMAN	ATM interactor	365					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CTTAAGGAGAGCCTACCTCTT	0.458000													9	52					0	0	0.004482	0	0
FBXO18	84893	broad.mit.edu	37	10	5956205	5956205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:5956205C>T	ENST00000379999.5	+	9	1626	c.1522C>T	c.(1522-1524)Cag>Tag	p.Q508*	FBXO18_ENST00000362091.4_Nonsense_Mutation_p.Q457*|FBXO18_ENST00000379994.1_Nonsense_Mutation_p.Q194*|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	457					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GGAACCTCTCCAGGTGGTGAA	0.448000													9	86					0	0	0.006214	0	0
LMOD1	25802	broad.mit.edu	37	1	201868676	201868676	+	Missense_Mutation	SNP	T	T	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:201868676T>G	ENST00000367288.4	-	2	1711	c.1465A>C	c.(1465-1467)Aag>Cag	p.K489Q	RP11-307B6.3_ENST00000458139.1_RNA|RP11-307B6.3_ENST00000414927.1_RNA	NM_012134.2	NP_036266.2	P29536	LMOD1_HUMAN	leiomodin 1 (smooth muscle)	489					muscle contraction	cytoskeleton|cytosol|membrane fraction	tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTCTCTCCCTTGGCTTCCTGT	0.592000													11	16					0	0	0.001855	0	0
USP34	9736	broad.mit.edu	37	2	61431396	61431396	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:61431396T>C	ENST00000398571.2	-	74	9455	c.9379A>G	c.(9379-9381)Agt>Ggt	p.S3127G		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3127					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CATACCTTACTGGTTTCCACC	0.428000													44	72					0	0	0.014410	0	0
ARID5B	84159	broad.mit.edu	37	10	63816914	63816914	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:63816914G>C	ENST00000279873.7	+	6	1295	c.885G>C	c.(883-885)aaG>aaC	p.K295N	ARID5B_ENST00000309334.5_Missense_Mutation_p.K52N	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	295					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CCAAGCCGAAGAATAACCATA	0.458000													18	22					0	0	0.007413	0	0
TTN	7273	broad.mit.edu	37	2	179635006	179635006	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:179635006C>G	ENST00000589042.1	-	36	8646	c.8422G>C	c.(8422-8424)Gaa>Caa	p.E2808Q	TTN_ENST00000359218.5_Missense_Mutation_p.E2762Q|TTN_ENST00000342175.6_Missense_Mutation_p.E2762Q|TTN_ENST00000360870.5_Missense_Mutation_p.E2808Q|TTN_ENST00000460472.2_Missense_Mutation_p.E2762Q|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E2808Q|TTN_ENST00000342992.6_Missense_Mutation_p.E2808Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2546							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)			GTGGCATTTTCCAAGGCTGTC	0.408000													16	88					0	0	0.004007	0	0
NPTX2	4885	broad.mit.edu	37	7	98256519	98256519	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:98256519C>T	ENST00000265634.3	+	4	1096	c.931C>T	c.(931-933)Cac>Tac	p.H311Y		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	311	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CAAGTGGCACCACATCTGTGT	0.637000													19	30					0	0	0.010504	0	0
TUSC1	286319	broad.mit.edu	37	9	25677789	25677789	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:25677789G>C	ENST00000358022.3	-	1	1067	c.531C>G	c.(529-531)ctC>ctG	p.L177L		NM_001004125.2	NP_001004125.1	Q2TAM9	TUSC1_HUMAN	tumor suppressor candidate 1	177										kidney(1)	1	all_hematologic(1;0.197)	all_neural(3;5.42e-18)|Glioma(3;5.54e-17)		GBM - Glioblastoma multiforme(1;1.51e-108)|Lung(42;2.88e-14)|LUSC - Lung squamous cell carcinoma(38;3.16e-11)		CCCGCTGCTCGAGGTGCAGCT	0.716000													3	0					0	0	0.004672	0	0
ACADVL	37	broad.mit.edu	37	17	7127131	7127131	+	Splice_Site	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:7127131G>A	ENST00000356839.5	+	13	1448		c.e13-1		ACADVL_ENST00000543245.2_Splice_Site|ACADVL_ENST00000350303.5_Splice_Site	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain						energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						TTTGTCCCTAGGAGGCAGCCT	0.557000													24	48					0	0	0.004656	0	0
GABPA	2551	broad.mit.edu	37	21	27136626	27136626	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr21:27136626C>T	ENST00000354828.3	+	8	1435	c.908C>T	c.(907-909)tCa>tTa	p.S303L	GABPA_ENST00000400075.3_Missense_Mutation_p.S303L	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	303					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding	p.S303L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CCGAGGATTTCAGGAGAAGAT	0.338000													16	24					0	0	0.007413	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	43					0	0	0.004656	0	0
SV2C	22987	broad.mit.edu	37	5	75490760	75490760	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:75490760C>T	ENST00000502798.2	+	3	1039	c.597C>T	c.(595-597)ctC>ctT	p.L199L	SV2C_ENST00000322285.7_Silent_p.L199L	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	199					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TAGTGTACCTCGGGATGATGG	0.468000													13	125					0	0	0.003163	0	0
MFSD8	256471	broad.mit.edu	37	4	128878725	128878725	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:128878725C>G	ENST00000296468.3	-	3	212	c.85G>C	c.(85-87)Gaa>Caa	p.E29Q	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_5'UTR|MFSD8_ENST00000513559.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	29					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						TAATGCTCTTCAGTCTCTAAA	0.299000													15	92					0	0	0.003163	0	0
GNAT2	2780	broad.mit.edu	37	1	110151357	110151357	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:110151357C>T	ENST00000351050.3	-	4	543	c.357G>A	c.(355-357)atG>atA	p.M119I		NM_005272.3	NP_005263.1	P19087	GNAT2_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2	119					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	G-protein beta/gamma-subunit complex binding|G-protein coupled photoreceptor activity|G-protein-coupled receptor binding|GTP binding|GTPase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	14		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0422)|Colorectal(144;0.108)|Epithelial(280;0.125)|all cancers(265;0.129)|LUSC - Lung squamous cell carcinoma(189;0.227)		GCTCAGGAGGCATGGTTCCCT	0.517000													21	49					0	0	0.012319	0	0
TRAV10	28676	broad.mit.edu	37	14	22294136	22294136	+	RNA	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:22294136C>T	ENST00000390432.2	+	0	276																											CAAAGTCGAACGGAAGATATA	0.488000													23	65					0	0	0.002780	0	0
TVP23B	51030	broad.mit.edu	37	17	18694255	18694255	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:18694255A>G	ENST00000307767.8	+	3	441	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	TVP23B_ENST00000574226.1_Missense_Mutation_p.I48V|TVP23B_ENST00000476139.1_5'UTR|TVP23B_ENST00000581733.1_5'UTR	NM_016078.4	NP_057162.4			trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)																		AGTCAGTGCAATCATCGTCTA	0.393000													110	136					0	0	0.014410	0	0
TRIAP1	51499	broad.mit.edu	37	12	120882720	120882720	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:120882720C>T	ENST00000546954.1	-	2	225	c.186G>A	c.(184-186)ctG>ctA	p.L62L	AL021546.6_ENST00000551806.1_Intron|TRIAP1_ENST00000302432.3_5'UTR	NM_016399.2	NP_057483.1	O43715	TRIA1_HUMAN	TP53 regulated inhibitor of apoptosis 1	62					anti-apoptosis|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	mitochondrion|perinuclear region of cytoplasm	caspase inhibitor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCATGAACTCCAGTCCTTCAA	0.403000													32	156					0	0	0.003271	0	0
SPDEF	25803	broad.mit.edu	37	6	34512160	34512160	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:34512160G>A	ENST00000374037.3	-	2	487	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	SPDEF_ENST00000544425.1_Missense_Mutation_p.R25W	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	25					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						AAGCCTGTCCGCGACACCGTG	0.716000													5	36					0	0	0.001168	0	0
PLCL1	5334	broad.mit.edu	37	2	198949886	198949886	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:198949886G>C	ENST00000428675.1	+	2	2043	c.1645G>C	c.(1645-1647)Gat>Cat	p.D549H	PLCL1_ENST00000437704.2_Missense_Mutation_p.D451H	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	549	Interaction with GABA A beta subunit (By similarity).				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)	TTCTGATCCAGATGTGTTAGA	0.413000													20	41					0	0	0.008871	0	0
BTNL9	153579	broad.mit.edu	37	5	180472573	180472573	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:180472573C>T	ENST00000327705.9	+	2	315	c.84C>T	c.(82-84)ctC>ctT	p.L28L	BTNL9_ENST00000376842.3_Silent_p.L28L|BTNL9_ENST00000376841.2_Silent_p.L28L|BTNL9_ENST00000515271.1_Intron	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	28						integral to membrane				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACCTCCTCCTCCTTCAGCCTG	0.607000													5	39					0	0	0.000602	0	0
COL1A2	1278	broad.mit.edu	37	7	94043559	94043559	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:94043559C>A	ENST00000297268.6	+	29	2162	c.1691C>A	c.(1690-1692)gCt>gAt	p.A564D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	564			A -> T (in dbSNP:rs41317153).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCAGGTCCCGCTGGTGAAGTT	0.433000										HNSCC(75;0.22)			7	33					3.09899e-07	3.28263e-07	0.004482	1	0
ANK3	288	broad.mit.edu	37	10	62029966	62029966	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:62029966T>C	ENST00000280772.1	-	5	627	c.436A>G	c.(436-438)Atg>Gtg	p.M146V	ANK3_ENST00000503366.1_Missense_Mutation_p.M129V|ANK3_ENST00000373827.2_Missense_Mutation_p.M140V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	146					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.M146V(1)		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						TGGGCTGCCATATACAATGGC	0.398000													19	33					0	0	0.007413	0	0
KIF14	9928	broad.mit.edu	37	1	200549426	200549426	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:200549426C>G	ENST00000367350.4	-	21	3859	c.3421G>C	c.(3421-3423)Gaa>Caa	p.E1141Q		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1141	Required for CIT-binding.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						TCAAACTTTTCCAGACTCCAG	0.279000													6	16					0	0	0.001984	0	0
REV3L	5980	broad.mit.edu	37	6	111697577	111697577	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:111697577C>T	ENST00000435970.1	-	15	2563	c.1747G>A	c.(1747-1749)Gat>Aat	p.D583N	REV3L_ENST00000358835.3_Missense_Mutation_p.D661N|REV3L_ENST00000368802.3_Missense_Mutation_p.D661N|REV3L_ENST00000368805.1_Missense_Mutation_p.D661N			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	661					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTCATAATCAAAAATACTA	0.323000								DNA polymerases (catalytic subunits)					15	38					0	0	0.003163	0	0
KIAA1429	25962	broad.mit.edu	37	8	95504890	95504890	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:95504890T>C	ENST00000297591.5	-	21	4873	c.4798A>G	c.(4798-4800)Ata>Gta	p.I1600V	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1600					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)			CTTGACGTTATAAAGGTCTCA	0.383000													10	74					0	0	0.008291	0	0
CATSPERD	257062	broad.mit.edu	37	19	5754220	5754220	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:5754220G>A	ENST00000381624.3	+	13	1303	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	CATSPERD_ENST00000309164.7_3'UTR|CATSPERD_ENST00000381614.2_Silent_p.S72S	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	414						integral to membrane											TGACTGCTTCGTTGATACCCC	0.453000													41	88					0	0	0.011902	0	0
MASTL	84930	broad.mit.edu	37	10	27459563	27459563	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:27459563G>A	ENST00000375946.4	+	8	2278	c.1675G>A	c.(1675-1677)Gat>Aat	p.D559N	MASTL_ENST00000342386.6_Missense_Mutation_p.D559N|MASTL_ENST00000375940.4_Missense_Mutation_p.D559N|MASTL_ENST00000477034.1_3'UTR	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	559	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTGATGATGATAGAGCTTC	0.333000													14	51					0	0	0.001855	0	0
DCHS2	54798	broad.mit.edu	37	4	155157796	155157796	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:155157796A>T	ENST00000357232.3	-	25	6642	c.6643T>A	c.(6643-6645)Tat>Aat	p.Y2215N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2215	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGTGTGATAGCTCAGGCTG	0.488000													4	69					0	0	0.000602	0	0
CSPP1	79848	broad.mit.edu	37	8	68028195	68028195	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:68028195A>G	ENST00000262210.5	+	11	1350	c.1319A>G	c.(1318-1320)gAg>gGg	p.E440G	CSPP1_ENST00000412460.1_Missense_Mutation_p.E146G	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	475						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CACTTTGAAGAGATGATACCA	0.408000													37	81					0	0	0.006999	0	0
G3BP2	9908	broad.mit.edu	37	4	76572243	76572243	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:76572243C>G	ENST00000359707.4	-	10	1812	c.1027G>C	c.(1027-1029)Gat>Cat	p.D343H	G3BP2_ENST00000357854.3_Missense_Mutation_p.D310H|G3BP2_ENST00000395719.3_Missense_Mutation_p.D343H	NM_203505.2	NP_987101.1	Q9UN86	G3BP2_HUMAN	GTPase activating protein (SH3 domain) binding protein 2	343	RRM.				cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	27			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TCATTTTCATCAATATCATGT	0.338000													8	41					0	0	0.003080	0	0
CMYA5	202333	broad.mit.edu	37	5	79030703	79030703	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:79030703A>G	ENST00000446378.2	+	2	6146	c.6115A>G	c.(6115-6117)Aaa>Gaa	p.K2039E		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2039						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TAGCCAGGAAAAAATTAAACT	0.428000													23	22					0	0	0.002780	0	0
LCMT2	9836	broad.mit.edu	37	15	43622164	43622164	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:43622164G>A	ENST00000305641.5	-	1	639	c.524C>T	c.(523-525)gCg>gTg	p.A175V	LCMT2_ENST00000567039.1_Intron|LCMT2_ENST00000544735.1_Intron	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	175					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GTCGAGCCCCGCGGCGCCCAG	0.716000													23	28					0	0	0.002780	0	0
WNK4	65266	broad.mit.edu	37	17	40947834	40947834	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:40947834G>C	ENST00000246914.5	+	16	3235	c.3214G>C	c.(3214-3216)Gag>Cag	p.E1072Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1072					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)		AGCTCTGGCTGAGAGCGACCG	0.607000													3	40					0	0	0.009096	0	0
ABCG8	64241	broad.mit.edu	37	2	44079964	44079964	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:44079964C>T	ENST00000272286.2	+	6	1011	c.921C>T	c.(919-921)atC>atT	p.I307I		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	307	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCACAGCCATCGGCTACCCCT	0.592000													11	92					0	0	0.002450	0	0
ACSS1	84532	broad.mit.edu	37	20	25038407	25038407	+	Missense_Mutation	SNP	G	G	A	rs141662914		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:25038407G>A	ENST00000323482.4	-	1	411	c.332C>T	c.(331-333)tCt>tTt	p.S111F	ACSS1_ENST00000432802.2_Missense_Mutation_p.S111F|ACSS1_ENST00000376726.3_Missense_Mutation_p.S111F	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	111					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCACTCACCAGAGACATTTAA	0.667000													7	47					0	0	0.003080	0	0
PLIN4	729359	broad.mit.edu	37	19	4511815	4511815	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:4511815C>T	ENST00000301286.3	-	3	2114	c.2115G>A	c.(2113-2115)gtG>gtA	p.V705V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	705	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGTGGTGTCCACACTGGTCT	0.607000													14	426					0	0	0.012213	0	0
ABCG8	64241	broad.mit.edu	37	2	44102445	44102445	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:44102445C>T	ENST00000272286.2	+	11	1739	c.1649C>T	c.(1648-1650)gCg>gTg	p.A550V		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	550	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTGGCCGCCGCGGCCCTGCTC	0.617000													18	49					0	0	0.008871	0	0
MYT1	4661	broad.mit.edu	37	20	62871203	62871203	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:62871203G>T	ENST00000536311.1	+	22	3629	c.3265G>T	c.(3265-3267)Ggc>Tgc	p.G1089C	MYT1_ENST00000328439.1_Missense_Mutation_p.G1062C			Q01538	MYT1_HUMAN	myelin transcription factor 1	1062				DA -> VP (in Ref. 5; AAA59897).	cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GGAGCTGTCCGGCCTGAGCCA	0.592000													19	119					7.41877e-09	7.88834e-09	0.012319	1	0
TRIM51	84767	broad.mit.edu	37	11	55653074	55653074	+	Missense_Mutation	SNP	A	A	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:55653074A>C	ENST00000449290.2	+	2	262	c.170A>C	c.(169-171)aAg>aCg	p.K57T		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	57						intracellular	zinc ion binding										GAATGCAAGAAGACAACGCGG	0.512000													4	14					0	0	0.009096	0	0
MYO18A	399687	broad.mit.edu	37	17	27442707	27442707	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:27442707C>T	ENST00000527372.1	-	12	2382	c.2202G>A	c.(2200-2202)gaG>gaA	p.E734E	MYO18A_ENST00000533112.1_Silent_p.E734E|MYO18A_ENST00000531253.1_Silent_p.E734E|MYO18A_ENST00000354329.4_Silent_p.E734E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	734	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	p.E734D(1)		NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GGCCACTCTCCTCGGGGCCCT	0.642000													7	6					0	0	0.001984	0	0
OR4B1	119765	broad.mit.edu	37	11	48238839	48238839	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:48238839G>A	ENST00000309562.2	+	1	496	c.478G>A	c.(478-480)Gtt>Att	p.V160I		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCAGATTCTCGTTATCATCCA	0.468000													38	77					0	0	0.006230	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117431659	117431659	+	Missense_Mutation	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:117431659T>A	ENST00000160373.3	-	4	1682	c.1591A>T	c.(1591-1593)Act>Tct	p.T531S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	531	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ACACCATGAGTCTTTAAACTG	0.547000													42	79					0	0	0.006999	0	0
HIST1H2AB	8335	broad.mit.edu	37	6	26033738	26033738	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:26033738G>C	ENST00000259791.2	-	1	58	c.59C>G	c.(58-60)tCt>tGt	p.S20C		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	20					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ACCTGCACGAGAAGACCGAGT	0.572000													5	106					0	0	0.000602	0	0
RFC4	5984	broad.mit.edu	37	3	186507820	186507820	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:186507820C>G	ENST00000392481.2	-	11	1311	c.1030G>C	c.(1030-1032)Gaa>Caa	p.E344Q	RFC4_ENST00000296273.2_Missense_Mutation_p.E344Q|RFC4_ENST00000433496.1_Missense_Mutation_p.E317Q	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	344					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGCAAATGTTCATCAGCACCA	0.378000													9	79					0	0	0.013537	0	0
AHNAK2	113146	broad.mit.edu	37	14	105418066	105418066	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:105418066C>A	ENST00000333244.5	-	7	3841	c.3722G>T	c.(3721-3723)gGc>gTc	p.G1241V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1241						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTTGAAGCCGGCTCCCTC	0.637000													78	36					3.66258e-25	4.06007e-25	0.014410	1	0
ITCH	83737	broad.mit.edu	37	20	33045206	33045206	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:33045206G>A	ENST00000374864.4	+	13	1435	c.1222G>A	c.(1222-1224)Gac>Aac	p.D408N	ITCH_ENST00000535650.1_Missense_Mutation_p.D298N|ITCH_ENST00000262650.6_Missense_Mutation_p.D449N|ITCH_ENST00000483727.1_3'UTR	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	449	Required for interaction with FYN.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GAAGAGAACAGACAGCAATGG	0.403000													4	20					0	0	0.009096	0	0
FAM120A	23196	broad.mit.edu	37	9	96320925	96320925	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:96320925C>T	ENST00000277165.6	+	15	2925	c.2731C>T	c.(2731-2733)Cgt>Tgt	p.R911C	FAM120A_ENST00000340893.4_Intron|FAM120A_ENST00000333936.5_Missense_Mutation_p.R939C	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	911	RNA binding.					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						CCGTGCCTTCCGTGTGGCGGC	0.612000													18	96					0	0	0.008871	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529865	140529865	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:140529865G>C	ENST00000231136.1	+	1	27	c.27G>C	c.(25-27)aaG>aaC	p.K9N	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		9					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TACAGAACAAGAAAAGGCAAG	0.433000													15	57					0	0	0.004007	0	0
EGFLAM	133584	broad.mit.edu	37	5	38407099	38407099	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:38407099A>G	ENST00000322350.5	+	8	1344	c.998A>G	c.(997-999)aAg>aGg	p.K333R	EGFLAM_ENST00000354891.3_Missense_Mutation_p.K333R|EGFLAM_ENST00000336740.6_Missense_Mutation_p.K99R|EGFLAM_ENST00000397202.2_Intron	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	333						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGAAAGGGGAAGAATGGTGTG	0.532000													29	106					0	0	0.008361	0	0
C1orf56	54964	broad.mit.edu	37	1	151021004	151021004	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:151021004C>A	ENST00000368926.5	+	1	789	c.681C>A	c.(679-681)caC>caA	p.H227Q		NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	227						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAAGCTGCACGGCCTTTCCG	0.652000											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	83					4.16121e-05	4.35936e-05	0.002780	1	0
OR2M2	391194	broad.mit.edu	37	1	248343777	248343777	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:248343777T>C	ENST00000359682.2	+	1	490	c.490T>C	c.(490-492)Ttt>Ctt	p.F164L		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGTAGCCACATTTTCCTTCTC	0.418000													115	182					0	0	0.014410	0	0
ZNF274	10782	broad.mit.edu	37	19	58697098	58697098	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:58697098A>T	ENST00000326804.4	+	3	512	c.53A>T	c.(52-54)gAt>gTt	p.D18V	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.D18V|ZNF274_ENST00000424679.2_Intron	NM_133502.1	NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	18	KRAB 1.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		ACCTTTGAAGATGTAACACTG	0.517000													42	65					0	0	0.014410	0	0
EVC	2121	broad.mit.edu	37	4	5811288	5811288	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:5811288G>A	ENST00000382674.2	+	19	2916	c.2732G>A	c.(2731-2733)cGa>cAa	p.R911Q	EVC_ENST00000264956.6_Missense_Mutation_p.R911Q			P57679	EVC_HUMAN	Ellis van Creveld syndrome	911					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCCTTGGCCCGAGTGCCCCTT	0.552000													6	49					0	0	0.003080	0	0
SLC5A7	60482	broad.mit.edu	37	2	108604753	108604753	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:108604753G>A	ENST00000264047.2	+	2	418	c.142G>A	c.(142-144)Gat>Aat	p.D48N	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Missense_Mutation_p.D48N	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	48					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.D48Y(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	TGGTGGCCGAGATATTGGTTT	0.527000													4	66					0	0	0.009096	0	0
TSKS	60385	broad.mit.edu	37	19	50266447	50266447	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:50266447C>T	ENST00000246801.3	-	1	140	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	20							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTGGGGGTGTCCCCGGCCTCA	0.657000													16	74					0	0	0.004007	0	0
SAT1	6303	broad.mit.edu	37	X	23803928	23803928	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:23803928C>A	ENST00000379270.4	+	6	650	c.471C>A	c.(469-471)ttC>ttA	p.F157L	SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379254.1_Missense_Mutation_p.F129L	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	157	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	GGAGACTGTTCAAGATCGACA	0.423000													17	15					1.40151e-16	1.52989e-16	0.010504	1	0
SATB1	6304	broad.mit.edu	37	3	18390856	18390856	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:18390856G>C	ENST00000338745.6	-	11	3832	c.2098C>G	c.(2098-2100)Ctc>Gtc	p.L700V	SATB1_ENST00000417717.2_Missense_Mutation_p.L732V|SATB1_ENST00000454909.2_Missense_Mutation_p.L700V|TBC1D5_ENST00000414318.2_Intron	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	700					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGGTGCTTGAGATAGTACCGC	0.507000													7	134					0	0	0.001984	0	0
PIP5K1B	8395	broad.mit.edu	37	9	71606110	71606110	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:71606110G>A	ENST00000265382.3	+	15	1862	c.1557G>A	c.(1555-1557)ttG>ttA	p.519_519insL	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	0						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCATCTACTTGACCGCTGAGC	0.448000													9	95					0	0	0.004482	0	0
MYO5A	4644	broad.mit.edu	37	15	52609388	52609388	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:52609388G>C	ENST00000399231.3	-	39	5434	c.5191C>G	c.(5191-5193)Cgt>Ggt	p.R1731G	MYO5A_ENST00000553916.1_Missense_Mutation_p.R1729G|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1756G|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1704G|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1728G	NM_000259.3	NP_000250.3	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1731	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTCTTGTCACGCAGCCATTCT	0.368000													7	50					0	0	0.003080	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545520	234545520	+	Missense_Mutation	SNP	G	G	C	rs45458396		TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:234545520G>C	ENST00000344644.5	+	1	421	c.352G>C	c.(352-354)Gac>Cac	p.D118H	UGT1A10_ENST00000373445.1_Missense_Mutation_p.D118H|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTTTTCTTGACTTATTTTT	0.368000													13	106					0	0	0.001855	0	0
IFNA8	3445	broad.mit.edu	37	9	21409512	21409512	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:21409512G>C	ENST00000380205.1	+	1	367	c.337G>C	c.(337-339)Gac>Cac	p.D113H		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	113					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.D113H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CATCGAACTTGACCAGCAGCT	0.502000													26	45					0	0	0.004656	0	0
PRICKLE4	29964	broad.mit.edu	37	6	41753185	41753185	+	Silent	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:41753185G>C	ENST00000359201.5	+	5	1078	c.489G>C	c.(487-489)ctG>ctC	p.L163L	PRICKLE4_ENST00000394260.1_Silent_p.L123L|PRICKLE4_ENST00000458694.1_Silent_p.L163L|PRICKLE4_ENST00000394259.1_Silent_p.L123L|PRICKLE4_ENST00000394263.1_Silent_p.L163L			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	123	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCAGGCCCTGATAAACCTCA	0.617000													5	58					0	0	0.001984	0	0
ODF2L	57489	broad.mit.edu	37	1	86852635	86852635	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:86852635C>G	ENST00000359242.3	-	2	357	c.76G>C	c.(76-78)Gat>Cat	p.D26H	ODF2L_ENST00000370567.1_Missense_Mutation_p.D26H|ODF2L_ENST00000394731.1_5'UTR|ODF2L_ENST00000486215.1_Missense_Mutation_p.D26H|ODF2L_ENST00000294678.2_Missense_Mutation_p.D26H|ODF2L_ENST00000370566.3_Missense_Mutation_p.D26H|ODF2L_ENST00000478286.2_Missense_Mutation_p.D26H|ODF2L_ENST00000317336.7_Missense_Mutation_p.D26H	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	26						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CGTGGTAAATCTTCTTTCTCT	0.358000													7	68					0	0	0.003080	0	0
ITGA2	3673	broad.mit.edu	37	5	52371079	52371079	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:52371079A>T	ENST00000296585.5	+	23	2913	c.2770A>T	c.(2770-2772)Aat>Tat	p.N924Y		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	924					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAAGGCTGATAATTTGGTCAA	0.368000													9	27					0	0	0.006214	0	0
KDM6A	7403	broad.mit.edu	37	X	44870205	44870205	+	Splice_Site	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:44870205G>A	ENST00000377967.4	+	5	425		c.e5-1		KDM6A_ENST00000543216.1_Splice_Site|KDM6A_ENST00000536777.1_Splice_Site|KDM6A_ENST00000382899.4_Splice_Site	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A						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(10)|p.0?(6)|p.?(1)		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						TTCCTTTACAGAATGCTGCCT	0.299000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								5	6					0	0	0.001168	0	0
ZNF280A	129025	broad.mit.edu	37	22	22869589	22869589	+	Silent	SNP	T	T	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr22:22869589T>C	ENST00000302097.3	-	2	618	c.366A>G	c.(364-366)gaA>gaG	p.E122E		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TATAACCAGGTTCAGATGAAG	0.483000													35	51					0	0	0.003755	0	0
UBXN4	23190	broad.mit.edu	37	2	136528186	136528186	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:136528186A>G	ENST00000272638.9	+	8	1014	c.703A>G	c.(703-705)Atg>Gtg	p.M235V	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	235					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TGGAAAAGAAATGTTGGATTA	0.328000													8	13					0	0	0.004482	0	0
MYO1F	4542	broad.mit.edu	37	19	8618294	8618294	+	Silent	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:8618294C>G	ENST00000338257.8	-	5	621	c.354G>C	c.(352-354)gtG>gtC	p.V118V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	118	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						ATTTGGCTGCCACTGTCTTCC	0.517000													6	87					0	0	0.003080	0	0
FAM120A	23196	broad.mit.edu	37	9	96291798	96291798	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:96291798G>C	ENST00000277165.6	+	9	1864	c.1670G>C	c.(1669-1671)aGa>aCa	p.R557T	FAM120A_ENST00000340893.4_Missense_Mutation_p.R557T|FAM120A_ENST00000375389.3_Missense_Mutation_p.R557T|FAM120A_ENST00000333936.5_Missense_Mutation_p.R585T|FAM120A_ENST00000475933.1_3'UTR	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	557						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						GAGGTGCTGAGAGTGGCCGAG	0.592000													15	65					0	0	0.004990	0	0
ZKSCAN4	387032	broad.mit.edu	37	6	28215883	28215883	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:28215883C>G	ENST00000377294.2	-	3	859	c.616G>C	c.(616-618)Gat>Cat	p.D206H	ZKSCAN4_ENST00000423974.2_Missense_Mutation_p.D51H	NM_019110.3	NP_061983.2	Q969J2	ZKSC4_HUMAN	zinc finger with KRAB and SCAN domains 4	206					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACCATTGCATCTTCTCTGCAG	0.572000													9	18					0	0	0.006214	0	0
IFIT1B	439996	broad.mit.edu	37	10	91143656	91143656	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:91143656G>A	ENST00000371809.3	+	2	666	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	196							binding			endometrium(2)|large_intestine(3)|lung(8)	13						CACAGCATCAGGGAGGAATAA	0.453000													43	211					0	0	0.009718	0	0
RANBP3L	202151	broad.mit.edu	37	5	36251470	36251470	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:36251470G>A	ENST00000296604.3	-	13	1784	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	RANBP3L_ENST00000502994.1_Silent_p.C458C	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	433					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			CACAGCTTTCGCAGTTCAATT	0.373000													19	37					0	0	0.010504	0	0
ANO5	203859	broad.mit.edu	37	11	22248857	22248857	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:22248857G>C	ENST00000324559.8	+	7	690	c.373G>C	c.(373-375)Gat>Cat	p.D125H		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	125						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACTCGGAAGATGGAAGAAC	0.348000													38	97					0	0	0.011902	0	0
LDOC1	23641	broad.mit.edu	37	X	140270912	140270912	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chrX:140270912C>T	ENST00000370526.2	-	1	398	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	LDOC1_ENST00000460721.1_Intron	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	99					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					TCCTCGGCTTCCCCGGTGAGG	0.557000													38	24					0	0	0.011902	0	0
CYP2R1	120227	broad.mit.edu	37	11	14907463	14907463	+	Splice_Site	SNP	T	T	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:14907463T>A	ENST00000334636.5	-	2	272	c.225_splice	c.e2-1	p.I76_splice	CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000532378.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	76					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)	AAACTGAAGATCTTTGAGAAG	0.373000													14	33					0	0	0.006122	0	0
SMC3	9126	broad.mit.edu	37	10	112356208	112356208	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:112356208G>A	ENST00000361804.4	+	19	2142	c.2016G>A	c.(2014-2016)agG>agA	p.R672R		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	672					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		ATGACACAAGGAAGTCTCGAC	0.373000													28	53					0	0	0.010818	0	0
KDM4A	9682	broad.mit.edu	37	1	44137205	44137205	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:44137205G>A	ENST00000372396.3	+	11	1527	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	465					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						AGTCAAATTTGAAGAGCTTAA	0.458000													13	110					0	0	0.013537	0	0
FAP	2191	broad.mit.edu	37	2	163055300	163055300	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:163055300C>T	ENST00000188790.4	-	16	1576	c.1369G>A	c.(1369-1371)Gac>Aac	p.D457N	FAP_ENST00000443424.1_Missense_Mutation_p.D432N	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	457					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TTGGCGTAGTCGCTGAAACTT	0.468000													20	41					0	0	0.010504	0	0
SPPL2C	162540	broad.mit.edu	37	17	43923106	43923106	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:43923106C>T	ENST00000329196.5	+	1	851	c.834C>T	c.(832-834)gtC>gtT	p.V278V	MAPT-AS1_ENST00000579244.1_RNA|MAPT-AS1_ENST00000579599.1_RNA	NM_175882.2	NP_787078.2	Q8IUH8	IMP5_HUMAN	signal peptide peptidase like 2C	278						integral to membrane	aspartic-type endopeptidase activity										ACCACTTTGTCTATGTCACCA	0.592000													6	136					0	0	0.003080	0	0
SLC35F2	54733	broad.mit.edu	37	11	107676147	107676147	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:107676147C>T	ENST00000525071.1	-	8	1257	c.669G>A	c.(667-669)ctG>ctA	p.L223L	SLC35F2_ENST00000429869.1_Silent_p.L223L|SLC35F2_ENST00000525815.1_Silent_p.L223L|SLC35F2_ENST00000375682.4_Silent_p.L176L|SLC35F2_ENST00000265836.7_Silent_p.L75L			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	223					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		CCTGTCTGCTCAGCTTCTTCA	0.408000													5	46					0	0	0.000602	0	0
MAP4	4134	broad.mit.edu	37	3	47957727	47957727	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:47957727G>A	ENST00000426837.2	-	8	1728	c.1641C>T	c.(1639-1641)ctC>ctT	p.L547L	MAP4_ENST00000383737.4_Intron|MAP4_ENST00000360240.6_Silent_p.L530L|MAP4_ENST00000395734.3_Silent_p.L530L			P27816	MAP4_HUMAN	microtubule-associated protein 4	530					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CGTTCTTGATGAGAACTACTT	0.502000													36	33					0	0	0.003271	0	0
HKDC1	80201	broad.mit.edu	37	10	71000451	71000451	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:71000451G>A	ENST00000354624.5	+	6	768	c.635G>A	c.(634-636)gGg>gAg	p.G212E	HKDC1_ENST00000395086.2_Missense_Mutation_p.G212E	NM_025130.3	NP_079406.3	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	212					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GACACCGTGGGGACCATGATG	0.562000													29	41					0	0	0.013726	0	0
CFH	3075	broad.mit.edu	37	1	196658599	196658599	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:196658599G>A	ENST00000367429.4	+	8	1254	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	CFH_ENST00000439155.2_Silent_p.E338E|CFH_ENST00000359637.2_Silent_p.E274E	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	338	Sushi 6.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TATATCATGAGAATATGCGTA	0.323000													12	62					0	0	0.013537	0	0
SNRK	54861	broad.mit.edu	37	3	43344765	43344765	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr3:43344765C>T	ENST00000296088.7	+	3	374	c.70C>T	c.(70-72)Cga>Tga	p.R24*	SNRK_ENST00000437827.1_Intron|SNRK_ENST00000429705.2_Nonsense_Mutation_p.R24*|SNRK_ENST00000462810.1_3'UTR|SNRK_ENST00000454177.1_Nonsense_Mutation_p.R24*	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	24	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)		AACCTTGGGTCGAGGCCATTT	0.423000													22	27					0	0	0.002780	0	0
CCDC125	202243	broad.mit.edu	37	5	68616157	68616157	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:68616157C>G	ENST00000396496.2	-	2	318	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	CCDC125_ENST00000511257.1_5'UTR|CCDC125_ENST00000383374.2_Missense_Mutation_p.E71Q|CCDC125_ENST00000396499.1_Missense_Mutation_p.E71Q|CCDC125_ENST00000460090.1_5'UTR			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	71						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AAACTCGCTTCATTTCTTTCT	0.388000													54	56					0	0	0.014410	0	0
CYP4F8	11283	broad.mit.edu	37	19	15728925	15728925	+	RNA	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:15728925G>C	ENST00000441682.2	+	0	377							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GTGCCACCCTGACATCGTCCG	0.577000													17	98					0	0	0.006122	0	0
INTS5	80789	broad.mit.edu	37	11	62416825	62416825	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:62416825G>A	ENST00000330574.2	-	2	779	c.727C>T	c.(727-729)Ctc>Ttc	p.L243F		NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	243					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						CCACAGGAGAGAACCCGGGAA	0.542000													21	50					0	0	0.014323	0	0
NEFM	4741	broad.mit.edu	37	8	24771655	24771655	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:24771655G>C	ENST00000221166.5	+	1	1131	c.349G>C	c.(349-351)Gag>Cag	p.E117Q	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000518131.1_Missense_Mutation_p.E117Q|NEFM_ENST00000437366.2_Missense_Mutation_p.E117Q|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	117	Coil 1A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGGCTACATAGAGAAGGTGCA	0.647000													3	13					0	0	0.004672	0	0
RBM28	55131	broad.mit.edu	37	7	127964661	127964661	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:127964661C>G	ENST00000223073.1	-	12	1404	c.1290G>C	c.(1288-1290)aaG>aaC	p.K430N	RBM28_ENST00000415472.2_Missense_Mutation_p.K289N	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	430					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						GCTTCTTCACCTTCGTCGTCT	0.557000													26	207					0	0	0.005443	0	0
PTPN13	5783	broad.mit.edu	37	4	87671658	87671658	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:87671658G>A	ENST00000436978.1	+	18	3166	c.2686G>A	c.(2686-2688)Gag>Aag	p.E896K	PTPN13_ENST00000316707.6_Intron|PTPN13_ENST00000411767.2_Missense_Mutation_p.E896K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E896K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E896K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	896						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTCCAAGCAGAGTCTGTTAG	0.438000													9	176					0	0	0.006214	0	0
ABLIM3	22885	broad.mit.edu	37	5	148619423	148619423	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:148619423C>T	ENST00000506113.1	+	12	1658	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S	RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000356541.3_Silent_p.S330S|ABLIM3_ENST00000504238.1_Silent_p.S330S|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000326685.7_Silent_p.S330S|ABLIM3_ENST00000309868.7_Silent_p.S392S|ABLIM3_ENST00000508983.1_Silent_p.S392S|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	392					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACCTTCTCCCGCTCACCTC	0.627000													35	35					0	0	0.006230	0	0
BIN3	55909	broad.mit.edu	37	8	22487967	22487967	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:22487967G>T	ENST00000276416.6	-	5	353	c.285C>A	c.(283-285)ttC>ttA	p.F95L	BIN3_ENST00000519513.1_Missense_Mutation_p.F41L|BIN3_ENST00000399977.4_Missense_Mutation_p.F47L|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000520292.1_Missense_Mutation_p.F95L	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	95	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		TTTCCTGATTGAAGGCATCCA	0.592000													36	186					3.61848e-18	3.96508e-18	0.007835	1	0
FHDC1	85462	broad.mit.edu	37	4	153897181	153897181	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr4:153897181G>A	ENST00000511601.1	+	12	2926	c.2738G>A	c.(2737-2739)aGa>aAa	p.R913K	FHDC1_ENST00000260008.3_Missense_Mutation_p.R913K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	913					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTCCAGCAGAGGCGCCGGC	0.672000													5	30					0	0	0.001168	0	0
RPS8	6202	broad.mit.edu	37	1	45243773	45243773	+	Silent	SNP	G	G	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:45243773G>A	ENST00000396651.3	+	5	649	c.489G>A	c.(487-489)gaG>gaA	p.E163E	RPS8_ENST00000372209.3_Silent_p.E143E|RPS8_ENST00000485390.1_3'UTR			P62241	RS8_HUMAN	ribosomal protein S8	163					endocrine pancreas development|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(2)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	10	Acute lymphoblastic leukemia(166;0.155)					GTCTCCTGGAGGAGCAGTTCC	0.448000													3	12					0	0	0.004672	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138774437	138774437	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:138774437A>T	ENST00000242351.5	-	2	693	c.377T>A	c.(376-378)cTc>cAc	p.L126H	ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L126H|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L126H	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	126					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGTCCAGAGAGTTCGTGATT	0.408000													26	11					0	0	0.003330	0	0
PCDHGB4	8641	broad.mit.edu	37	5	140768638	140768638	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr5:140768638C>G	ENST00000519479.1	+	1	1187	c.1187C>G	c.(1186-1188)tCa>tGa	p.S396*	PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAACTTCTTCAAGAAACACG	0.418000													6	77					0	0	0.001168	0	0
RB1CC1	9821	broad.mit.edu	37	8	53569790	53569790	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr8:53569790G>C	ENST00000025008.5	-	15	3122	c.2599C>G	c.(2599-2601)Cta>Gta	p.L867V	RB1CC1_ENST00000435644.2_Missense_Mutation_p.L867V|RB1CC1_ENST00000539297.1_Missense_Mutation_p.L867V|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	867					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAGACAGTAGTTCTTTTTGA	0.264000													7	33					0	0	0.001984	0	0
KCNK16	83795	broad.mit.edu	37	6	39283006	39283006	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr6:39283006C>G	ENST00000425054.2	-	5	862	c.863G>C	c.(862-864)aGa>aCa	p.R288T	KCNK16_ENST00000373229.5_Intron|KCNK16_ENST00000373227.4_Intron|KCNK16_ENST00000507712.1_Intron	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	0						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGGTCTAAATCTCTCCTGGTC	0.552000													10	22					0	0	0.006214	0	0
OR6T1	219874	broad.mit.edu	37	11	123814028	123814028	+	Missense_Mutation	SNP	C	C	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:123814028C>A	ENST00000321252.2	-	1	552	c.518G>T	c.(517-519)gGt>gTt	p.G173V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGGTCAATACCATTGGGGCC	0.562000													25	21					7.76418e-22	8.57358e-22	0.005443	1	0
ST8SIA2	8128	broad.mit.edu	37	15	92981732	92981732	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr15:92981732C>T	ENST00000268164.3	+	4	677	c.440C>T	c.(439-441)tCg>tTg	p.S147L	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.S126L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	147					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCAGGACTTCGCCACTGAAG	0.537000													9	106					0	0	0.006214	0	0
DDR2	4921	broad.mit.edu	37	1	162749994	162749994	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr1:162749994C>G	ENST00000367922.2	+	19	2964	c.2526C>G	c.(2524-2526)ttC>ttG	p.F842L	DDR2_ENST00000367921.3_Missense_Mutation_p.F842L	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	842	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GTCCCTCATTCCAAGAAATCC	0.522000													8	98					0	0	0.004482	0	0
IFLTD1	160492	broad.mit.edu	37	12	25702360	25702360	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr12:25702360A>T	ENST00000282881.6	-	2	296	c.147T>A	c.(145-147)taT>taA	p.Y49*	IFLTD1_ENST00000413632.2_Nonsense_Mutation_p.Y70*|IFLTD1_ENST00000539744.1_5'UTR|IFLTD1_ENST00000458174.2_Nonsense_Mutation_p.Y70*|IFLTD1_ENST00000445693.1_Intron	NM_152590.3	NP_689803.2	Q8N9Z9	ILFT1_HUMAN	intermediate filament tail domain containing 1	49						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GACTAGACAGATAGTAACCAA	0.398000													22	37					0	0	0.014323	0	0
C7orf62	219557	broad.mit.edu	37	7	88424117	88424117	+	Missense_Mutation	SNP	A	A	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:88424117A>T	ENST00000297203.2	-	2	325	c.140T>A	c.(139-141)cTt>cAt	p.L47H	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	47										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						CATCCTATCAAGAAGGAATTT	0.388000													40	97					0	0	0.010771	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87339931	87339931	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:87339931G>C	ENST00000338056.3	+	5	880	c.469G>C	c.(469-471)Gaa>Caa	p.E157Q	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E140Q|RUNDC3B_ENST00000496000.1_3'UTR|ABCB1_ENST00000265724.3_Intron|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E140Q	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	157	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ACATTTATCTGAATACATCTC	0.303000													14	29					0	0	0.003163	0	0
CDH20	28316	broad.mit.edu	37	18	59221721	59221721	+	Silent	SNP	C	C	T			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr18:59221721C>T	ENST00000262717.4	+	12	2597	c.2199C>T	c.(2197-2199)gcC>gcT	p.A733A	CDH20_ENST00000538374.1_Silent_p.A733A|CDH20_ENST00000536675.2_Silent_p.A733A			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	733					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCTACGAGGCCGACATGGACC	0.642000													3	33					0	0	0.004672	0	0
LAMTOR1	55004	broad.mit.edu	37	11	71809262	71809262	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr11:71809262G>C	ENST00000538404.1	-	4	477	c.466C>G	c.(466-468)Ctg>Gtg	p.L156V	LRTOMT_ENST00000435085.1_Intron|LAMTOR1_ENST00000539797.1_Intron|LRTOMT_ENST00000307198.7_Intron|LRTOMT_ENST00000419228.1_Intron|LAMTOR1_ENST00000278671.5_Intron|LRTOMT_ENST00000439209.1_Intron|LAMTOR1_ENST00000535107.1_Intron|LAMTOR1_ENST00000545249.1_Intron			Q6IAA8	LTOR1_HUMAN	late endosomal/lysosomal adaptor, MAPK and MTOR activator 1	0	Interaction with LAMTOR2 and LAMTOR3 (By similarity).				cell growth|cellular protein localization|cellular response to amino acid stimulus|cholesterol homeostasis|endosome localization|endosome organization|lysosome localization|lysosome organization|positive regulation of MAPKKK cascade|positive regulation of TOR signaling cascade|regulation of cholesterol efflux|regulation of cholesterol esterification|regulation of cholesterol import|regulation of receptor recycling	Golgi apparatus|lysosomal membrane|plasma membrane|Ragulator complex	protein binding			cervix(1)	1						CTCTGAGGCAGAGTGGGTGAA	0.582000													2	4					0	0	0.004672	0	0
ARL6IP6	151188	broad.mit.edu	37	2	153575279	153575279	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr2:153575279delA	ENST00000326446.5	+	1	852	c.141delA	c.(139-141)ggfs	p.G47fs		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	47						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AGGAGGAGGGATGCGACCAAG	0.706													7	17	---	---	---	---					
INTS4P2	644619	broad.mit.edu	37	7	65150814	65150815	+	RNA	INS	-	-	C			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:65150814_65150815insC	ENST00000430126.2	+	0	757																											TCTTCATCCCTCACCCCCCCCC	0.460													3	4	---	---	---	---					
RINT1	60561	broad.mit.edu	37	7	105190824	105190834	+	Frame_Shift_Del	DEL	TGAAAGGGAGC	TGAAAGGGAGC	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr7:105190824_105190834delTGAAAGGGAGC	ENST00000257700.2	+	9	1455_1465	c.1224_1234delTGAAAGGGAGC	c.(1222-1236)tttafs	p.FEREL408fs		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	408	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	p.R410M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TACTCTTGTTTGAAAGGGAGCTACACAGTGT	0.417													8	183	---	---	---	---					
CNTNAP3	79937	broad.mit.edu	37	9	39149853	39149853	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr9:39149853delC	ENST00000297668.6	-	10	1672	c.1599delG	c.(1597-1599)gcfs	p.A533fs	CNTNAP3_ENST00000377659.1_Frame_Shift_Del_p.A533fs|CNTNAP3_ENST00000358144.2_Frame_Shift_Del_p.A445fs|CNTNAP3_ENST00000323947.7_Intron|CNTNAP3_ENST00000377656.2_Frame_Shift_Del_p.A533fs	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	533	Laminin G-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AACTCCCCAGCGCCCCCTGCT	0.542													4	9	---	---	---	---					
ITGB1	3688	broad.mit.edu	37	10	33197461	33197462	+	Splice_Site	DEL	CT	CT	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr10:33197461_33197462delCT	ENST00000396033.2	-	15	2300_2301	c.2164_splice	c.e15-1	p.E722_splice	ITGB1_ENST00000423113.1_Splice_Site_p.E722_splice|ITGB1_ENST00000302278.3_Splice_Site_p.E722_splice|ITGB1_ENST00000374956.4_Splice_Site_p.E722_splice	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	722					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CAGTGGGACACTCTGGAAAATA	0.406													18	54	---	---	---	---					
AHNAK2	113146	broad.mit.edu	37	14	105413766	105413767	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr14:105413766_105413767delAG	ENST00000333244.5	-	7	8140_8141	c.8021_8022delCT	c.(8020-8022)tfs	p.S2674fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2674						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTCAGCTCAGACACATCCAC	0.564													59	226	---	---	---	---					
RP11-19N8.4	0	broad.mit.edu	37	16	33070154	33070154	+	RNA	DEL	C	C	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:33070154delC	ENST00000561541.1	-	0	291																											CCTATCACATCCCATTCCAGC	0.488													2	4	---	---	---	---					
SLC7A5	8140	broad.mit.edu	37	16	87885358	87885359	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr16:87885358_87885359insA	ENST00000261622.4	-	2	700_701	c.635_636insT	c.(634-636)actfs	p.T212fs	SLC7A5_ENST00000565644.1_5'UTR	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	212					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		AGCCCAGCAGGATGATCAGGGC	0.668													14	26	---	---	---	---					
ZNF750	79755	broad.mit.edu	37	17	80790225	80790226	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr17:80790225_80790226insA	ENST00000269394.3	-	2	938_939	c.105_106insT	c.(103-108)aaagaafs	p.KE35fs	ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	35						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)			TGTGACTTCTCATTGCAAGTAA	0.411													69	29	---	---	---	---					
DNM2	1785	broad.mit.edu	37	19	10893634	10893635	+	Splice_Site	INS	-	-	GGCTACATT			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:10893634_10893635insGGCTACATT	ENST00000314646.5	+	6	852		c.e6-1		DNM2_ENST00000355667.6_Splice_Site|DNM2_ENST00000585892.1_Splice_Site|DNM2_ENST00000408974.4_Splice_Site|DNM2_ENST00000389253.4_Splice_Site|DNM2_ENST00000359692.6_Splice_Site			P50570	DYN2_HUMAN	dynamin 2						G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCTCCCCACAGGCTACATTGG	0.574			"""F, N, Splice, Mis, O"""		ETP ALL								9	54	---	---	---	---					
URI1	8725	broad.mit.edu	37	19	30505952	30505952	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr19:30505952delT	ENST00000392271.1	+	11	1881	c.1356delT	c.(1354-1356)gcfs	p.A453fs	URI1_ENST00000360605.4_Intron|URI1_ENST00000312051.6_Frame_Shift_Del_p.A489fs|URI1_ENST00000542441.2_Frame_Shift_Del_p.A529fs	NM_003796.3	NP_003787.2	O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	529					protein folding|regulation of transcription from RNA polymerase II promoter|response to virus	DNA-directed RNA polymerase II, core complex|prefoldin complex	transcription corepressor activity|unfolded protein binding										AGTTTAAAGCTGCCAGATTGC	0.413													27	75	---	---	---	---					
ZNF334	55713	broad.mit.edu	37	20	45130984	45130985	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:45130984_45130985insA	ENST00000457685.2	-	6	2202_2203	c.879_880insT	c.(877-882)ttggaafs	p.LE293fs	ZNF334_ENST00000593880.1_Frame_Shift_Ins_p.LE354fs|ZNF334_ENST00000347606.4_Frame_Shift_Ins_p.LE331fs			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GCTGACTTCCGAAAAAAGGTCT	0.436													7	185	---	---	---	---					
BMP7	655	broad.mit.edu	37	20	55840910	55840910	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CR-7368-01A-11D-2129-08	TCGA-CR-7368-10A-01D-2129-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b194ab3-d213-4a7a-be46-909b4f0c7291	2f1b122e-205d-44be-a6e1-1fc7f2271d99	g.chr20:55840910delA	ENST00000395863.3	-	1	774	c.269delT	c.(268-270)agfs	p.M90fs	BMP7_ENST00000450594.2_Frame_Shift_Del_p.M90fs|BMP7_ENST00000395864.3_Frame_Shift_Del_p.M90fs	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	90					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CTCCACCGCCATGGCGTTGTA	0.672													7	9	---	---	---	---					
