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
DNM2	1785	broad.mit.edu	37	19	10934516	10934516	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:10934516G>A	ENST00000314646.5	+	17	1998	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N	DNM2_ENST00000355667.6_Missense_Mutation_p.D612N|DNM2_ENST00000359692.6_Missense_Mutation_p.D608N|DNM2_ENST00000585892.1_Missense_Mutation_p.D612N|DNM2_ENST00000408974.4_Missense_Mutation_p.D608N|DNM2_ENST00000389253.4_Missense_Mutation_p.D612N			P50570	DYN2_HUMAN	dynamin 2	612	PH.				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)			CTCCCAGGAAGACGTGGACAG	0.667000			"""F, N, Splice, Mis, O"""		ETP ALL								39	52					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20257987	20257987	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:20257987G>C	ENST00000245957.5	+	22	2757	c.2681G>C	c.(2680-2682)gGa>gCa	p.G894A	C20orf26_ENST00000377309.2_Missense_Mutation_p.G250A	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	894										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGAGCCGCCGGAGTCACTATG	0.652000													28	58					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51586207	51586207	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51586207G>A	ENST00000389243.4	-	9	1236	c.297C>T	c.(295-297)gtC>gtT	p.V99V	POU6F1_ENST00000333640.10_Silent_p.V99V|POU6F1_ENST00000550824.1_Silent_p.V99V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	99	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GGCTGGCAATGACCACAGCAG	0.607000													50	147					0	0	1	0	0
BTN1A1	696	broad.mit.edu	37	6	26505305	26505305	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:26505305C>G	ENST00000244513.6	+	3	646	c.580C>G	c.(580-582)Cct>Gct	p.P194A		NM_001732.2	NP_001723.2	Q13410	BT1A1_HUMAN	butyrophilin, subfamily 1, member A1	194	Ig-like V-type 2.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GTCCAGGAATCCTGATGAAGA	0.502000													88	6					0	0	1	0	0
COL18A1	80781	broad.mit.edu	37	21	46876059	46876059	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:46876059C>G	ENST00000359759.4	+	1	636	c.615C>G	c.(613-615)ctC>ctG	p.L205L	COL18A1_ENST00000355480.5_Silent_p.L205L|COL18A1_ENST00000400337.2_Intron			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	205					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGCACCACTCACGGGGCCCT	0.687000													18	52					0	0	1	0	0
SLC35A1	10559	broad.mit.edu	37	6	88210332	88210332	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:88210332C>G	ENST00000369552.4	+	3	328	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	SLC35A1_ENST00000544441.1_Intron|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_Missense_Mutation_p.Q101E|C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369556.3_Missense_Mutation_p.Q101E	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	101					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		GTATGCTGTTCAGAACAACAT	0.413000													30	23					0	0	1	0	0
ZNF91	7644	broad.mit.edu	37	19	23544994	23544994	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:23544994C>G	ENST00000300619.7	-	4	992	c.787G>C	c.(787-789)Gag>Cag	p.E263Q	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.E231Q	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	263						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TAGATTTTCTCTTTAGCACAG	0.378000													29	42					0	0	1	0	0
ZNF207	7756	broad.mit.edu	37	17	30678846	30678846	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:30678846A>G	ENST00000394670.4	+	2	252	c.83A>G	c.(82-84)cAg>cGg	p.Q28R	ZNF207_ENST00000321233.6_Missense_Mutation_p.Q28R|ZNF207_ENST00000341711.6_Missense_Mutation_p.Q28R|ZNF207_ENST00000342555.6_Missense_Mutation_p.Q31R|RP11-227G15.3_ENST00000581915.1_RNA|ZNF207_ENST00000394673.2_Missense_Mutation_p.Q28R|ZNF207_ENST00000577908.1_Missense_Mutation_p.Q28R	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	28						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			ATCCTTATTCAGCACCAAAAA	0.343000													38	47					0	0	1	0	0
ITIH6	347365	broad.mit.edu	37	X	54783526	54783526	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:54783526G>T	ENST00000218436.6	-	8	3010	c.2981C>A	c.(2980-2982)cCt>cAt	p.P994H		NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	994	Pro-rich.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity										GATGGCCTCAGGGAGGATGCT	0.547000													18	22					1.00905e-13	1.06783e-13	1	1	0
MOGS	7841	broad.mit.edu	37	2	74689864	74689864	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74689864C>G	ENST00000233616.4	-	4	1214	c.1052G>C	c.(1051-1053)aGa>aCa	p.R351T	MOGS_ENST00000452063.2_Missense_Mutation_p.R245T|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	351					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GCCTGCCAGTCTTGGCAGGGC	0.532000													69	93					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39930340	39930340	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:39930340C>T	ENST00000342274.4	-	6	3486	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K	BCOR_ENST00000378455.4_Missense_Mutation_p.E1024K|BCOR_ENST00000397354.3_Missense_Mutation_p.E1042K|BCOR_ENST00000378444.4_Missense_Mutation_p.E1042K	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1042					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTGCACATCTCGGAGTCTTTG	0.488000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						30	2					0	0	1	0	0
CASP14	23581	broad.mit.edu	37	19	15164702	15164702	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:15164702G>T	ENST00000427043.3	+	4	644	c.336G>T	c.(334-336)ctG>ctT	p.L112L	CASP14_ENST00000221740.1_Silent_p.L112L	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	112					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TCGAGGCCCTGAACAACAAGA	0.562000													29	48					3.11337e-16	3.33248e-16	1	1	0
SMARCC2	6601	broad.mit.edu	37	12	56572315	56572315	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:56572315C>G	ENST00000394023.3	-	14	1288	c.1183G>C	c.(1183-1185)Gag>Cag	p.E395Q	SMARCC2_ENST00000550164.1_Missense_Mutation_p.E395Q|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Missense_Mutation_p.E395Q|SMARCC2_ENST00000347471.4_Missense_Mutation_p.E395Q	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	395					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TTCTCATCCTCATCCTACGAG	0.527000													77	45					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98522777	98522777	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:98522777G>A	ENST00000359863.4	+	22	3075	c.2866G>A	c.(2866-2868)Gag>Aag	p.E956K	TRRAP_ENST00000355540.3_Missense_Mutation_p.E956K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E955K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	956					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CGCCAACACTGAGCCCTACTA	0.507000													44	68					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136882784	136882784	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:136882784C>T	ENST00000359015.4	-	28	4235		c.e28-1		MAP3K5_ENST00000355845.4_Splice_Site	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5						activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCAGGAATTTCTAGAACAGAA	0.358000													9	15					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164733762	164733762	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:164733762C>T	ENST00000264382.3	-	32	3928	c.3866G>A	c.(3865-3867)gGa>gAa	p.G1289E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1289	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTATCTCATTCCTTCTCCTCT	0.403000										HNSCC(35;0.089)			17	69					0	0	1	0	0
ST8SIA1	6489	broad.mit.edu	37	12	22408294	22408294	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:22408294T>A	ENST00000396037.4	-	3	892	c.411A>T	c.(409-411)aaA>aaT	p.K137N	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	137					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CCACCGCGCATTTCTTCAATG	0.478000													108	107					0	0	1	0	0
USP8	9101	broad.mit.edu	37	15	50757369	50757369	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:50757369G>A	ENST00000433963.1	+	8	1167	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	USP8_ENST00000396444.3_Missense_Mutation_p.E223K|USP8_ENST00000425032.3_Missense_Mutation_p.E146K|USP8_ENST00000307179.4_Missense_Mutation_p.E223K			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	223	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		CAGTGTTCCTGAAGAAGCCAT	0.378000													21	63					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727750	7727750	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:7727750C>T	ENST00000283147.6	+	1	721	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	188					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAAGAGCCTTCTGGCCCCCGG	0.711000													13	23					0	0	1	0	0
MUM1	84939	broad.mit.edu	37	19	1360523	1360523	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:1360523G>C	ENST00000311401.5	+	5	785	c.399G>C	c.(397-399)gaG>gaC	p.E133D	MUM1_ENST00000415183.3_Missense_Mutation_p.E202D|MUM1_ENST00000344663.3_Missense_Mutation_p.E202D|MUM1_ENST00000591806.1_Missense_Mutation_p.E202D			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	201					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAAGATGAGAGTGGGTCCA	0.537000											OREG0025088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	15					0	0	1	0	0
L2HGDH	79944	broad.mit.edu	37	14	50735964	50735964	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:50735964C>G	ENST00000267436.4	-	7	1220	c.823G>C	c.(823-825)Gat>Cat	p.D275H	L2HGDH_ENST00000421284.3_Missense_Mutation_p.D275H|L2HGDH_ENST00000261699.4_Missense_Mutation_p.D275H			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	275					2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATTCGAGGATCAGGAGTGCAG	0.408000													52	72					0	0	1	0	0
POLN	353497	broad.mit.edu	37	4	2172884	2172884	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:2172884C>G	ENST00000511885.2	-	12	1752	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.E467Q			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	467					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AAATGAGCTTCTTGCTCCAAT	0.323000								DNA polymerases (catalytic subunits)					34	18					0	0	1	0	0
SNAP29	9342	broad.mit.edu	37	22	21213633	21213633	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:21213633G>A	ENST00000215730.7	+	1	363	c.235G>A	c.(235-237)Gag>Aag	p.E79K		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			CGCCTCTTCCGAGGTGAGCCT	0.612000													27	44					0	0	1	0	0
CAMTA2	23125	broad.mit.edu	37	17	4876991	4876991	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:4876991C>T	ENST00000361571.5	-	12	2498	c.2087G>A	c.(2086-2088)tGg>tAg	p.W696*	CAMTA2_ENST00000348066.3_Nonsense_Mutation_p.W697*|CAMTA2_ENST00000572543.1_Nonsense_Mutation_p.W702*|CAMTA2_ENST00000358183.4_Nonsense_Mutation_p.W697*|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Nonsense_Mutation_p.W699*|CAMTA2_ENST00000414043.3_Nonsense_Mutation_p.W720*	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	697					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGGACCCTTCCAGGTGGAGCG	0.612000													17	103					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914223	32914223	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32914223G>A	ENST00000544455.1	+	11	5958	c.5731G>A	c.(5731-5733)Gat>Aat	p.D1911N	BRCA2_ENST00000380152.3_Missense_Mutation_p.D1911N	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1911					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCTAGATAATGATGAATGTAG	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			11	38					0	0	1	0	0
SIAE	54414	broad.mit.edu	37	11	124518069	124518069	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:124518069G>A	ENST00000263593.3	-	6	897	c.725C>T	c.(724-726)tCc>tTc	p.S242F	SIAE_ENST00000545756.1_Missense_Mutation_p.S207F			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	242						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		GTATGGAATGGACCTGAAATC	0.443000													23	25					0	0	1	0	0
REV1	51455	broad.mit.edu	37	2	100052376	100052376	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:100052376C>G	ENST00000258428.3	-	7	1469	c.1241G>C	c.(1240-1242)aGa>aCa	p.R414T	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.R414T	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	414					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTCTGATGTCTGGGAGAATT	0.348000								Direct reversal of damage					39	119					0	0	1	0	0
EXOSC10	5394	broad.mit.edu	37	1	11132177	11132177	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:11132177C>A	ENST00000376936.4	-	20	2258	c.2209G>T	c.(2209-2211)Gaa>Taa	p.E737*	EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_RNA|EXOSC10_ENST00000304457.7_Nonsense_Mutation_p.E712*	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	737					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TTGACAGCTTCTTTAGAGTCT	0.453000													34	70					5.78141e-17	6.20861e-17	1	1	0
NINL	22981	broad.mit.edu	37	20	25459797	25459797	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:25459797C>T	ENST00000278886.6	-	16	2036	c.1963G>A	c.(1963-1965)Gag>Aag	p.E655K	NINL_ENST00000422516.1_Missense_Mutation_p.E655K	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	655					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTCTCCTTCTCAAAGTTCCTT	0.537000													19	71					0	0	1	0	0
SARDH	1757	broad.mit.edu	37	9	136531911	136531911	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:136531911G>A	ENST00000371872.4	-	20	2834	c.2577C>T	c.(2575-2577)ttC>ttT	p.F859F	SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000439388.1_Silent_p.F859F|SARDH_ENST00000371868.1_Silent_p.F309F|SARDH_ENST00000422262.2_Silent_p.F691F	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	859					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGTCGATGGCGAACCCAAAGT	0.597000													3	11					0	0	1	0	0
FGD2	221472	broad.mit.edu	37	6	36982667	36982667	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:36982667G>A	ENST00000274963.8	+	8	1053		c.e8-1			NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2						actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						CAACCCCCTAGGAGCGGCTGC	0.652000													24	292					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71730410	71730410	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:71730410C>T	ENST00000258104.3	+	4	580	c.303C>T	c.(301-303)ttC>ttT	p.F101F	DYSF_ENST00000409366.1_Silent_p.F102F|DYSF_ENST00000413539.2_Silent_p.F101F|DYSF_ENST00000394120.2_Silent_p.F102F|DYSF_ENST00000409651.1_Silent_p.F102F|DYSF_ENST00000409744.1_Silent_p.F102F|DYSF_ENST00000429174.2_Silent_p.F101F|DYSF_ENST00000410041.1_Silent_p.F102F|DYSF_ENST00000409582.3_Silent_p.F101F|DYSF_ENST00000410020.3_Silent_p.F102F|DYSF_ENST00000409762.1_Silent_p.F101F	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	101						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCGCCAGCTTCAATGCCCCCC	0.577000													219	31					0	0	1	0	0
NALCN	259232	broad.mit.edu	37	13	101735186	101735186	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:101735186C>G	ENST00000251127.6	-	33	3820	c.3739G>C	c.(3739-3741)Gtt>Ctt	p.V1247L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1247						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGGTGAAAACAACTGACATT	0.493000													26	106					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175513	140175513	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140175513G>A	ENST00000526136.1	+	1	964	c.964G>A	c.(964-966)Gca>Aca	p.A322T	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A322T|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A322T	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)			TCAGGTCACTGCAACTGACAA	0.378000													12	35					0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76506762	76506762	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:76506762C>T	ENST00000527881.1	+	2	1128	c.102C>T	c.(100-102)ttC>ttT	p.F34F	TSKU_ENST00000333090.4_Silent_p.F34F			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	34	LRRNT.					extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TCGGCCTTTTCGACAGCTTCA	0.662000													32	87					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78163298	78163298	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:78163298C>T	ENST00000535157.1	+	9	669	c.499C>T	c.(499-501)Cca>Tca	p.P167S	SCEL_ENST00000377246.3_Missense_Mutation_p.P189S|SCEL_ENST00000349847.3_Missense_Mutation_p.P189S	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	189					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		TGTTCACCCTCCAATACCTCC	0.393000													15	75					0	0	1	0	0
LIPC	3990	broad.mit.edu	37	15	58838000	58838000	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:58838000G>C	ENST00000414170.3	+	6	921	c.634G>C	c.(634-636)Gat>Cat	p.D212H	LIPC_ENST00000356113.6_Missense_Mutation_p.D212H|LIPC_ENST00000299022.5_Missense_Mutation_p.D212H|LIPC_ENST00000433326.2_Missense_Mutation_p.D151H			P11150	LIPC_HUMAN	lipase, hepatic	212					cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TCTTTCTCCAGATGATGCCAA	0.537000													189	128					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38622656	38622656	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:38622656C>G	ENST00000413689.1	-	17	3187	c.2994G>C	c.(2992-2994)caG>caC	p.Q998H	SCN5A_ENST00000455624.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000450102.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000443581.1_Missense_Mutation_p.Q998H|SCN5A_ENST00000333535.4_Missense_Mutation_p.Q998H|SCN5A_ENST00000451551.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000414099.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000425664.1_Missense_Mutation_p.Q998H|SCN5A_ENST00000449557.2_Missense_Mutation_p.Q998H|SCN5A_ENST00000423572.2_Missense_Mutation_p.Q998H	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	998					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAGCTGGCCCTGGGCGGCAA	0.672000													14	15					0	0	1	0	0
CASKIN1	57524	broad.mit.edu	37	16	2237255	2237255	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:2237255C>A	ENST00000343516.6	-	8	839	c.747G>T	c.(745-747)gtG>gtT	p.V249V		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	249					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						AGGTGTTCCTCACGTGGGCAT	0.632000													27	73					6.00712e-18	6.5044e-18	1	1	0
BLVRA	644	broad.mit.edu	37	7	43830958	43830958	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:43830958A>G	ENST00000402924.1	+	5	408	c.245A>G	c.(244-246)gAc>gGc	p.D82G	BLVRA_ENST00000265523.4_Missense_Mutation_p.D82G	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	82					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	AGCCATGAGGACTACATCAGG	0.512000													103	55					0	0	1	0	0
NEFM	4741	broad.mit.edu	37	8	24771416	24771416	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:24771416C>T	ENST00000221166.5	+	1	892	c.110C>T	c.(109-111)tCg>tTg	p.S37L	GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.S37L|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.S37L			P07197	NFM_HUMAN	neurofilament, medium polypeptide	37	Head.					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)		GGCTTCCGCTCGCAGTCGTGG	0.697000													17	13					0	0	1	0	0
PABPC3	5042	broad.mit.edu	37	13	25671754	25671754	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:25671754C>T	ENST00000281589.3	+	1	1455	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	473					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GTCATGTCAACGCAGCGTGTT	0.542000													20	88					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156247764	156247764	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156247764C>G	ENST00000361813.5	-	3	393	c.249G>C	c.(247-249)tgG>tgC	p.W83C	SMG5_ENST00000368267.5_Missense_Mutation_p.W83C	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	83					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					ATACCTTTCTCCACAGCAGCT	0.493000													29	143					0	0	1	0	0
PIEZO2	63895	broad.mit.edu	37	18	10672800	10672800	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:10672800C>A	ENST00000302079.6	-	50	7703	c.7704G>T	c.(7702-7704)tgG>tgT	p.W2568C	PIEZO2_ENST00000285141.4_Missense_Mutation_p.W423C|PIEZO2_ENST00000580640.1_Missense_Mutation_p.W2656C|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.W588C|PIEZO2_ENST00000503781.3_Missense_Mutation_p.W2631C			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2631						integral to membrane	ion channel activity										GGTTGAGAACCCACCACTCAC	0.408000													13	127					0.00185496	0.00188376	1	1	0
YY1AP1	55249	broad.mit.edu	37	1	155630385	155630385	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155630385G>T	ENST00000368340.5	-	10	1778	c.1670C>A	c.(1669-1671)tCa>tAa	p.S557*	YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.S439*|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.S408*|YY1AP1_ENST00000295566.4_Nonsense_Mutation_p.S485*|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.S428*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.S439*|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.S439*|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.S408*|YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.S428*|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.S419*|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.S577*|YY1AP1_ENST00000535662.1_Nonsense_Mutation_p.S285*	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AGGGGCTTCTGAATGAGTTGA	0.552000													114	69					3.52435e-65	3.91328e-65	1	1	0
BRCA2	675	broad.mit.edu	37	13	32911868	32911868	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32911868G>C	ENST00000544455.1	+	11	3603	c.3376G>C	c.(3376-3378)Gaa>Caa	p.E1126Q	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1126Q	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1126					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AAGTCAGTTTGAATTTACTCA	0.343000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			15	28					0	0	1	0	0
HSF1	3297	broad.mit.edu	37	8	145535411	145535411	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:145535411C>G	ENST00000528838.1	+	8	909	c.749C>G	c.(748-750)tCc>tGc	p.S250C	HSF1_ENST00000400780.4_Missense_Mutation_p.S185C	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	250	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			TACAGCAGCTCCAGCCTCTAC	0.692000													41	163					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293224	62293224	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62293224C>G	ENST00000378024.4	-	5	8939	c.8665G>C	c.(8665-8667)Gac>Cac	p.D2889H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2889					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTGCCAGTCTGGACCCTGA	0.517000													74	257					0	0	1	0	0
SOCS6	9306	broad.mit.edu	37	18	67992252	67992252	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:67992252G>A	ENST00000397942.3	+	2	664	c.348G>A	c.(346-348)gtG>gtA	p.V116V	SOCS6_ENST00000582322.1_Silent_p.V116V	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	116					defense response|JAK-STAT cascade|negative regulation of signal transduction|regulation of growth	cytoplasm				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				TTAAAGACGTGAGAGCTCAGA	0.597000													19	54					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140953172	140953172	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140953172G>A	ENST00000253811.6	-	16	2385	c.2245C>T	c.(2245-2247)Cca>Tca	p.P749S	DIAPH1_ENST00000398562.2_Missense_Mutation_p.P728S|DIAPH1_ENST00000389054.3_Missense_Mutation_p.P749S|DIAPH1_ENST00000518047.1_Missense_Mutation_p.P740S|DIAPH1_ENST00000389057.5_Missense_Mutation_p.P740S|DIAPH1_ENST00000398566.3_Missense_Mutation_p.P740S|DIAPH1_ENST00000398557.4_Missense_Mutation_p.P749S|DIAPH1_ENST00000520569.1_Missense_Mutation_p.P695S			O60610	DIAP1_HUMAN	diaphanous-related formin 1	749	FH1.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGGAGGTGGAGGCATACCC	0.587000													14	34					0	0	1	0	0
SF3A3	10946	broad.mit.edu	37	1	38450421	38450421	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:38450421C>T	ENST00000373019.4	-	5	1289	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	SF3A3_ENST00000489537.1_5'UTR|SF3A3_ENST00000448721.2_Missense_Mutation_p.E59K	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa	112					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTCAGGAGTTCCTCAAATTCC	0.433000													35	86					0	0	1	0	0
COX6A1	1337	broad.mit.edu	37	12	120875952	120875952	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:120875952C>T	ENST00000229379.2	+	1	60	c.23C>T	c.(22-24)tCg>tTg	p.S8L		NM_004373.3	NP_004364.2	P12074	CX6A1_HUMAN	cytochrome c oxidase subunit VIa polypeptide 1	8					respiratory electron transport chain	mitochondrial respiratory chain complex IV	cytochrome-c oxidase activity					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGTGTGTCCTCGGTTTCTCGG	0.637000													21	6					0	0	1	0	0
ZNF195	7748	broad.mit.edu	37	11	3380678	3380678	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:3380678C>T	ENST00000354599.6	-	4	1448	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	ZNF195_ENST00000429541.2_Silent_p.K452K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000399602.4_Silent_p.K520K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403000													5	181					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7696168	7696168	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7696168G>A	ENST00000572933.1	+	47	8799	c.7339G>A	c.(7339-7341)Gca>Aca	p.A2447T	DNAH2_ENST00000389173.2_Missense_Mutation_p.A2447T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2447	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAACATGTCCGCACAGGTGTG	0.647000													4	167					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12767436	12767436	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:12767436G>A	ENST00000456935.2	-	13	1633	c.1593C>T	c.(1591-1593)agC>agT	p.S531S	MAN2B1_ENST00000221363.4_Silent_p.S530S	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	531					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAACGCCTTCGCTGACCGGCA	0.602000													106	68					0	0	1	0	0
MRPS25	64432	broad.mit.edu	37	3	15094937	15094937	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:15094937C>G	ENST00000253686.2	-	3	419	c.279G>C	c.(277-279)aaG>aaC	p.K93N	MRPS25_ENST00000449354.2_Missense_Mutation_p.K93N|MRPS25_ENST00000444840.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	93					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						CCTTATTGCTCTTGGTCTCCA	0.488000													18	58					0	0	1	0	0
LRP11	84918	broad.mit.edu	37	6	150174190	150174190	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:150174190G>A	ENST00000239367.2	-	2	725	c.720C>T	c.(718-720)atC>atT	p.I240I	LRP11_ENST00000546019.1_5'UTR|LRP11_ENST00000367368.2_Silent_p.I240I|RP11-350J20.12_ENST00000472053.2_RNA	NM_032832.5	NP_116221.3	Q86VZ4	LRP11_HUMAN	low density lipoprotein receptor-related protein 11	240	PKD.					integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		CATACTGGACGATGGCGTGGT	0.562000													37	32					0	0	1	0	0
ZNF585B	92285	broad.mit.edu	37	19	37676214	37676214	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:37676214C>G	ENST00000532828.2	-	5	2476	c.2225G>C	c.(2224-2226)gGa>gCa	p.G742A	ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G330A|ZNF585B_ENST00000531805.1_Missense_Mutation_p.G687A|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	742					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGGTTTGTCTCCAGTGTGTGT	0.478000													10	203					0	0	1	0	0
TMEM255B	348013	broad.mit.edu	37	13	114503880	114503880	+	Silent	SNP	C	C	T	rs66696122		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:114503880C>T	ENST00000375353.3	+	6	531	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_182614.2	NP_872420.1			transmembrane protein 255B																		TCTATGCCTGCGGGAGGTGAG	0.647000													20	12					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30775620	30775620	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:30775620C>G	ENST00000324685.6	+	5	998	c.563C>G	c.(562-564)tCc>tGc	p.S188C	RNF40_ENST00000563683.1_Missense_Mutation_p.S188C|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.S188C	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	188					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			ATGGAGTTCTCCAAGGCAGCT	0.627000													14	57					0	0	1	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802504	109802504	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:109802504C>G	ENST00000230122.3	-	2	893	c.726G>C	c.(724-726)aaG>aaC	p.K242N		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CATCCTCGGTCTTGGGATCAT	0.463000													55	104					0	0	1	0	0
STAB2	55576	broad.mit.edu	37	12	104123937	104123937	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:104123937A>C	ENST00000388887.2	+	49	5330	c.5126A>C	c.(5125-5127)gAt>gCt	p.D1709A		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1709	FAS1 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATATCCAGTGATATCATCAGT	0.333000													27	42					0	0	1	0	0
SLC5A3	6526	broad.mit.edu	37	21	35468011	35468011	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:35468011C>T	ENST00000608209.1	+	2	1026	c.514C>T	c.(514-516)Ctg>Ttg	p.L172L	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Silent_p.L172L	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						GACTGCTTTGCTGACTGTCAC	0.473000													29	84					0	0	1	0	0
DYSF	8291	broad.mit.edu	37	2	71776507	71776507	+	Missense_Mutation	SNP	C	C	T	rs144931729	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:71776507C>T	ENST00000258104.3	+	17	1785	c.1508C>T	c.(1507-1509)tCg>tTg	p.S503L	DYSF_ENST00000409366.1_Missense_Mutation_p.S504L|DYSF_ENST00000413539.2_Missense_Mutation_p.S534L|DYSF_ENST00000394120.2_Missense_Mutation_p.S504L|DYSF_ENST00000409651.1_Missense_Mutation_p.S535L|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000429174.2_Missense_Mutation_p.S503L|DYSF_ENST00000410041.1_Intron|DYSF_ENST00000409582.3_Intron|DYSF_ENST00000410020.3_Intron|DYSF_ENST00000409762.1_Intron	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	503						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GTCAAGCCTTCGAAAGCCTCA	0.577000													36	6					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41537064	41537064	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:41537064C>G	ENST00000263253.7	+	10	3110	c.1891C>G	c.(1891-1893)Cac>Gac	p.H631D		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	631	KIX.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGAATACTACCACCTTCTAGC	0.373000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				16	15					0	0	1	0	0
GIPR	2696	broad.mit.edu	37	19	46178078	46178078	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:46178078G>A	ENST00000590918.1	+	7	726	c.627G>A	c.(625-627)tgG>tgA	p.W209*	GIPR_ENST00000263281.3_Nonsense_Mutation_p.W209*|GIPR_ENST00000304207.8_Nonsense_Mutation_p.W173*	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	209					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TTGCGCTGTGGAACCAGGTGG	0.577000													20	61					0	0	1	0	0
ZFP37	7539	broad.mit.edu	37	9	115806039	115806039	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:115806039G>A	ENST00000374227.3	-	4	886	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	ZFP37_ENST00000555206.1_Nonsense_Mutation_p.Q288*|ZFP37_ENST00000553380.1_Nonsense_Mutation_p.Q302*	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	287						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						ACACAAGCTTGAGGTTTTTCA	0.403000													61	51					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53516760	53516760	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:53516760C>G	ENST00000370905.3	-	3	1681	c.1541G>C	c.(1540-1542)aGa>aCa	p.R514T	KLHL31_ENST00000407079.1_Missense_Mutation_p.R514T	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CACGTACACTCTGTCGCTCAG	0.716000													3	10					0	0	1	0	0
HIST1H2BE	8344	broad.mit.edu	37	6	26184245	26184245	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:26184245C>T	ENST00000356530.3	+	1	288	c.222C>T	c.(220-222)atC>atT	p.I74I		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	74					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						TCGAGCGCATCGCCGGCGAGG	0.607000													292	26					0	0	1	0	0
ACAP2	23527	broad.mit.edu	37	3	195063325	195063325	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:195063325C>G	ENST00000326793.6	-	6	633	c.403G>C	c.(403-405)Gaa>Caa	p.E135Q		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	135	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AACGCATTTTCTTTTTCTTCA	0.328000													14	5					0	0	1	0	0
GSG1	83445	broad.mit.edu	37	12	13243611	13243611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:13243611C>T	ENST00000337630.6	-	2	218	c.151G>A	c.(151-153)Gag>Aag	p.E51K	GSG1_ENST00000537302.1_Missense_Mutation_p.E51K|GSG1_ENST00000432710.2_Missense_Mutation_p.E64K|GSG1_ENST00000396302.3_Missense_Mutation_p.E51K|GSG1_ENST00000396310.2_Missense_Mutation_p.E48K|GSG1_ENST00000324458.8_Missense_Mutation_p.E64K|GSG1_ENST00000457134.2_Missense_Mutation_p.E51K|GSG1_ENST00000351606.6_Missense_Mutation_p.E64K	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	51						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		AGACCTTTCTCGCACAGGGGC	0.542000													56	95					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51121551	51121551	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51121551C>G	ENST00000301180.5	+	29	3500	c.3466C>G	c.(3466-3468)Ctt>Gtt	p.L1156V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1156						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTTGGCATATCTTGATTTTAG	0.433000													42	114					0	0	1	0	0
SHQ1	55164	broad.mit.edu	37	3	72890342	72890342	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:72890342C>G	ENST00000325599.8	-	4	479	c.340G>C	c.(340-342)Gag>Cag	p.E114Q	SHQ1_ENST00000463369.1_Missense_Mutation_p.E86Q	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	114					ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		TCAGGAATCTCAGAAGCACCT	0.373000													13	21					0	0	1	0	0
SPTLC1	10558	broad.mit.edu	37	9	94843181	94843181	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:94843181G>A	ENST00000262554.2	-	4	330	c.325C>T	c.(325-327)Ctt>Ttt	p.L109F	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.L109F	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	109						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AACAATCCAAGAAAATTAAAT	0.378000													18	48					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36249349	36249349	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:36249349C>T	ENST00000396594.3	-	2	208	c.97G>A	c.(97-99)Gag>Aag	p.E33K	GNE_ENST00000539208.1_Intron|GNE_ENST00000377902.5_Missense_Mutation_p.E2K|GNE_ENST00000543356.2_Intron|GNE_ENST00000447283.2_Missense_Mutation_p.E2K|GNE_ENST00000539815.1_Missense_Mutation_p.E2K	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	2					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CCATTCTTCTCCATGATTTGC	0.353000													17	134					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144943935	144943935	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:144943935C>G	ENST00000525985.1	-	2	3558	c.3487G>C	c.(3487-3489)Gag>Cag	p.E1163Q				P58107	EPIPL_HUMAN	epiplakin 1	1163						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCACGTCCTCCAGCAGGCCC	0.672000													5	23					0	0	1	0	0
TENM2	57451	broad.mit.edu	37	5	167642220	167642220	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:167642220G>A	ENST00000519204.1	+	20	3776	c.3658G>A	c.(3658-3660)Gaa>Aaa	p.E1220K	TENM2_ENST00000520394.1_Missense_Mutation_p.E1102K|TENM2_ENST00000518659.1_Missense_Mutation_p.E1341K|TENM2_ENST00000403607.2_Missense_Mutation_p.E1165K|TENM2_ENST00000545108.1_Missense_Mutation_p.E1340K					teneurin transmembrane protein 2																		ACCCTTTGATGAAGCCCGCTG	0.557000													105	23					0	0	1	0	0
EFCAB3	146779	broad.mit.edu	37	17	60493508	60493508	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:60493508A>G	ENST00000450662.2	+	12	1362	c.1291A>G	c.(1291-1293)Aca>Gca	p.T431A	EFCAB3_ENST00000305286.3_Missense_Mutation_p.T379A	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	379							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TTCTACTTATACATGGTCCTG	0.408000													46	54					0	0	1	0	0
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:12501446T>C	ENST00000419318.1	-	4	2419	c.1670A>G	c.(1669-1671)gAa>gGa	p.E557G	ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413000													3	52					0	0	1	0	0
TBC1D1	23216	broad.mit.edu	37	4	38138896	38138896	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:38138896G>A	ENST00000261439.4	+	20	3802	c.3447G>A	c.(3445-3447)cgG>cgA	p.R1149R	TBC1D1_ENST00000407365.1_3'UTR|TBC1D1_ENST00000508802.1_Silent_p.R1140R	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	1149						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TGCGGCGGCGGAGCGCAGAGC	0.647000													16	193					0	0	1	0	0
TCAP	8557	broad.mit.edu	37	17	37822334	37822334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:37822334C>T	ENST00000309889.2	+	2	1649	c.476C>T	c.(475-477)tCc>tTc	p.S159F	TCAP_ENST00000578283.1_Missense_Mutation_p.S135F			O15273	TELT_HUMAN	titin-cap	159					adult heart development|cardiac muscle contraction|cardiac muscle fiber development|cardiac muscle tissue morphogenesis|detection of mechanical stimulus|muscle filament sliding|response to stress|sarcomere organization|skeletal muscle contraction|skeletal muscle myosin thick filament assembly|skeletal muscle thin filament assembly	cytosol|Z disc	structural constituent of muscle|titin binding|titin Z domain binding			kidney(1)|lung(1)	2	all_cancers(6;6.59e-85)|all_epithelial(6;2.89e-103)|Breast(7;1.05e-86)|Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;3.87e-45)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			CTGTCCCGCTCCATGTCCCAG	0.657000													129	166					0	0	1	0	0
CYB5R3	1727	broad.mit.edu	37	22	43032768	43032768	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:43032768G>A	ENST00000361740.4	-	2	204	c.205C>T	c.(205-207)Ctc>Ttc	p.L69F	CYB5R3_ENST00000352397.5_Missense_Mutation_p.L36F|CYB5R3_ENST00000402438.1_Missense_Mutation_p.L13F|CYB5R3_ENST00000407623.3_Missense_Mutation_p.L13F|CYB5R3_ENST00000396303.3_Missense_Mutation_p.L13F|CYB5R3_ENST00000407332.1_Missense_Mutation_p.L13F	NM_001171660.1	NP_001165131.1	P00387	NB5R3_HUMAN	cytochrome b5 reductase 3	36	FAD-binding FR-type.				blood circulation|cholesterol biosynthetic process|water-soluble vitamin metabolic process	endoplasmic reticulum membrane|hemoglobin complex|mitochondrial outer membrane	cytochrome-b5 reductase activity			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6					NADH(DB00157)	GGGCTCTCGAGGGTGATGGCT	0.627000													33	28					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62212771	62212771	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:62212771G>A	ENST00000261517.5	-	56	7211	c.7138C>T	c.(7138-7140)Cat>Tat	p.H2380Y	VPS13C_ENST00000395898.3_Missense_Mutation_p.H2337Y|VPS13C_ENST00000395896.4_Missense_Mutation_p.H2380Y|VPS13C_ENST00000249837.3_Missense_Mutation_p.H2337Y	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2380					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GAAGAAATATGAATTGCCATT	0.313000													14	9					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46529801	46529801	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:46529801G>C	ENST00000458649.2	-	9	2697	c.2279C>G	c.(2278-2280)tCt>tGt	p.S760C	AMBRA1_ENST00000533727.1_Missense_Mutation_p.S641C|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S731C|AMBRA1_ENST00000298834.3_Intron|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S670C|AMBRA1_ENST00000534300.1_Intron|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S731C			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	760					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTCTGAGGAAGAGGAGGAGGT	0.517000													24	67					0	0	1	0	0
OR52I1	390037	broad.mit.edu	37	11	4616239	4616239	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:4616239C>G	ENST00000450052.2	+	2	1043	c.1043C>G	c.(1042-1044)tCa>tGa	p.S348*	OR52I1_ENST00000530443.2_Nonsense_Mutation_p.S324*			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AACCTGGGTTCATGAACACAA	0.433000													24	89					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66423281	66423281	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:66423281A>C	ENST00000341529.3	+	5	785	c.637A>C	c.(637-639)Aaa>Caa	p.K213Q	CDH5_ENST00000563425.2_Missense_Mutation_p.K213Q	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	213	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CACAATAACGAAAAGCTTGGA	0.562000													14	32					0	0	1	0	0
TTC21B	79809	broad.mit.edu	37	2	166770116	166770116	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:166770116G>T	ENST00000243344.7	-	16	2316	c.2179C>A	c.(2179-2181)Ctc>Atc	p.L727I		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	727						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TCACCAAGGAGAAGAAAAGAC	0.323000													3	53					0.014758	0.0148488	1	1	0
RYR1	6261	broad.mit.edu	37	19	39055650	39055650	+	Missense_Mutation	SNP	G	G	A	rs118192128		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:39055650G>A	ENST00000355481.4	+	90	12792	c.12661G>A	c.(12661-12663)Gag>Aag	p.E4221K	RYR1_ENST00000359596.3_Missense_Mutation_p.E4226K|RYR1_ENST00000360985.3_Missense_Mutation_p.E4221K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4226					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CGAGGGCGGCGAGGCTGAGAA	0.642000													11	20					0	0	1	0	0
PPP2CA	5515	broad.mit.edu	37	5	133536147	133536147	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:133536147C>T	ENST00000481195.1	-	5	897	c.617G>A	c.(616-618)cGt>cAt	p.R206H	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAACCACCACGGTCATCTGG	0.413000													36	12					0	0	1	0	0
KIAA1737	85457	broad.mit.edu	37	14	77580381	77580381	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:77580381C>T	ENST00000361786.2	+	4	1237	c.920C>T	c.(919-921)tCa>tTa	p.S307L	RP11-463C8.4_ENST00000557752.1_Intron	NM_033426.2	NP_219494.2	Q9C0C6	K1737_HUMAN	KIAA1737	307										endometrium(2)|lung(4)|prostate(3)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0284)		GATATCTTTTCAGAGCAGCGG	0.478000													19	36					0	0	1	0	0
LTN1	26046	broad.mit.edu	37	21	30339132	30339132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:30339132C>G	ENST00000389194.2	-	10	1824	c.1819G>C	c.(1819-1821)Gag>Cag	p.E607Q	LTN1_ENST00000361371.5_Missense_Mutation_p.E561Q|LTN1_ENST00000389195.2_Missense_Mutation_p.E607Q	NM_015565.2	NP_056380.2	O94822	LTN1_HUMAN	listerin E3 ubiquitin protein ligase 1	561							ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(19)|ovary(5)|pancreas(1)|prostate(2)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)	60						TCAATCTTCTCTCCTTCTGAA	0.348000													13	7					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8048196	8048196	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:8048196C>G	ENST00000317276.4	-	18	2571	c.2334G>C	c.(2332-2334)ctG>ctC	p.L778L	PER1_ENST00000354903.5_Silent_p.L762L|PER1_ENST00000581082.1_Silent_p.L758L|PER1_ENST00000578089.1_Intron	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	778	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCTTGGTCAGCCCCACTG	0.682000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					19	2					0	0	1	0	0
UBE3A	7337	broad.mit.edu	37	15	25615955	25615955	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:25615955C>G	ENST00000232165.3	-	6	2022	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	UBE3A_ENST00000438097.1_Missense_Mutation_p.E436Q|UBE3A_ENST00000428984.2_Missense_Mutation_p.E436Q|UBE3A_ENST00000397954.2_Missense_Mutation_p.E459Q|UBE3A_ENST00000566215.1_Missense_Mutation_p.E436Q|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	459	Interaction with HCV core protein.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TTATCCATTTCTAGAACCTCA	0.353000													5	17					0	0	1	0	0
SMAD3	4088	broad.mit.edu	37	15	67477081	67477081	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:67477081C>G	ENST00000327367.4	+	7	1198	c.888C>G	c.(886-888)ctC>ctG	p.L296L	SMAD3_ENST00000537194.2_Silent_p.L101L|SMAD3_ENST00000540846.2_Silent_p.L191L|SMAD3_ENST00000439724.3_Silent_p.L252L	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	296	MH2.|Sufficient for interaction with XPO4.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GCGTGCGGCTCTACTACATCG	0.587000													24	87					0	0	1	0	0
GADD45A	1647	broad.mit.edu	37	1	68152235	68152235	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:68152235G>A	ENST00000370986.4	+	3	783	c.349G>A	c.(349-351)Gag>Aag	p.E117K	GADD45A_ENST00000370985.3_Missense_Mutation_p.E83K|GADD45A_ENST00000460575.1_3'UTR	NM_001924.3	NP_001915.1	P24522	GA45A_HUMAN	growth arrest and DNA-damage-inducible, alpha	117					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						CGAGGGCGCCGAGCAGCCCCC	0.706000													19	9					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5460802	5460802	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:5460802C>T	ENST00000296564.7	+	13	1577	c.1355C>T	c.(1354-1356)tCt>tTt	p.S452F		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	452										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CTGAGAGAATCTTCTGCCACA	0.408000													7	27					0	0	1	0	0
PFKP	5214	broad.mit.edu	37	10	3155563	3155563	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:3155563G>A	ENST00000381075.2	+	15	1424		c.e15-1		PFKP_ENST00000381125.4_Splice_Site	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet						glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		CTGTTTTGCAGACCAATTGCA	0.607000													6	35					0	0	1	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904395	73904395	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:73904395G>A	ENST00000342056.2	+	15	2512	c.2114G>A	c.(2113-2115)aGa>aAa	p.R705K	KCNQ5_ENST00000403813.2_Missense_Mutation_p.R677K|KCNQ5_ENST00000370398.1_Missense_Mutation_p.R686K|KCNQ5_ENST00000402622.2_Missense_Mutation_p.R696K|KCNQ5_ENST00000355194.4_Missense_Mutation_p.R686K|KCNQ5_ENST00000355635.3_Missense_Mutation_p.R687K|KCNQ5_ENST00000414165.2_Missense_Mutation_p.R576K	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	686					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		AACATCTCGAGAGGCCTGCAG	0.488000													71	70					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144857625	144857625	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144857625G>A	ENST00000369359.4	-	42	6875	c.6837C>T	c.(6835-6837)atC>atT	p.I2279I	PDE4DIP_ENST00000530740.1_Silent_p.I2228I|PDE4DIP_ENST00000369354.3_Silent_p.I2143I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.I2143I|PDE4DIP_ENST00000313382.9_Silent_p.I2037I			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2143					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTGCTCTGTTGATTATGGGCG	0.468000			T	PDGFRB	MPD								35	289					0	0	1	0	0
BANP	54971	broad.mit.edu	37	16	88017774	88017774	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:88017774C>G	ENST00000393207.1	+	4	468	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V	BANP_ENST00000355022.4_Missense_Mutation_p.L91V|BANP_ENST00000393208.2_Missense_Mutation_p.L91V|BANP_ENST00000355163.5_Missense_Mutation_p.L97V|BANP_ENST00000286122.7_Missense_Mutation_p.L83V|BANP_ENST00000479780.2_Missense_Mutation_p.L91V|BANP_ENST00000538234.1_Missense_Mutation_p.L91V	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	83					cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		AAAGCTGGATCTGGTCACGAA	0.527000													4	5					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193539	152193539	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:152193539G>T	ENST00000368801.2	-	3	641	c.566C>A	c.(565-567)tCt>tAt	p.S189Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	189					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGGCCTGAAGACTGATGGGA	0.537000													5	75					2.32416e-17	2.50412e-17	1	1	0
MAGI3	260425	broad.mit.edu	37	1	114128143	114128143	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:114128143G>A	ENST00000369615.1	+	4	750	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	MAGI3_ENST00000307546.9_Missense_Mutation_p.E230K|MAGI3_ENST00000369611.4_Missense_Mutation_p.E230K|MAGI3_ENST00000369617.4_Missense_Mutation_p.E230K	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	230	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCAAGATGGAAAGAATGGA	0.418000													17	34					0	0	1	0	0
ZNF687	57592	broad.mit.edu	37	1	151258795	151258795	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:151258795G>C	ENST00000368879.2	+	2	126	c.28G>C	c.(28-30)Gat>Cat	p.D10H		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCCTGATTTTGATGACCTCCT	0.517000													216	139					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152768689	152768689	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:152768689C>G	ENST00000367255.5	-	29	4174	c.3573G>C	c.(3571-3573)ttG>ttC	p.L1191F	SYNE1_ENST00000265368.4_Missense_Mutation_p.L1191F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L1198F|SYNE1_ENST00000367248.3_Missense_Mutation_p.L1181F|SYNE1_ENST00000367253.4_Missense_Mutation_p.L1191F|SYNE1_ENST00000448038.1_Missense_Mutation_p.L1198F|SYNE1_ENST00000413186.2_Missense_Mutation_p.L1191F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L1257F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1191					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)		AAACTTCTGTCAAAACTTTCA	0.458000										HNSCC(10;0.0054)			26	41					0	0	1	0	0
PHF3	23469	broad.mit.edu	37	6	64416024	64416024	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:64416024C>T	ENST00000262043.3	+	12	3813	c.3473C>T	c.(3472-3474)gCa>gTa	p.A1158V	PHF3_ENST00000393387.1_Missense_Mutation_p.A1158V			Q92576	PHF3_HUMAN	PHD finger protein 3	1158					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			ATAGCAGATGCATTATCTTCA	0.398000													12	27					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171293307	171293307	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171293307G>C	ENST00000367749.3	+	5	682	c.352G>C	c.(352-354)Gac>Cac	p.D118H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	118					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GAAGCGTCCAGACTTCTCCGA	0.463000													123	247					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58772798	58772798	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:58772798G>A	ENST00000269829.4	+	7	1300	c.826G>A	c.(826-828)Gga>Aga	p.G276R	ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.G248R|ZNF544_ENST00000600044.1_Missense_Mutation_p.G248R|ZNF544_ENST00000600220.1_Missense_Mutation_p.G248R|ZNF544_ENST00000599953.1_Missense_Mutation_p.G134R|ZNF544_ENST00000596652.1_Missense_Mutation_p.G276R|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TAAGGATTATGGAAACCTCTT	0.408000													13	82					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27437904	27437904	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:27437904G>A	ENST00000326799.3	-	2	247	c.99C>T	c.(97-99)ctC>ctT	p.L33L	YME1L1_ENST00000375972.3_Silent_p.L33L|YME1L1_ENST00000477432.1_Silent_p.L33L|YME1L1_ENST00000376016.3_Silent_p.L33L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	33					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACACTCCACTGAGAGAAACAG	0.408000													49	199					0	0	1	0	0
SUPT6H	6830	broad.mit.edu	37	17	27011877	27011877	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:27011877C>G	ENST00000314616.6	+	19	2668	c.2385C>G	c.(2383-2385)ttC>ttG	p.F795L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.F795L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	795					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCCTGTGTTCTGCGCCCTGG	0.443000													93	42					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90857267	90857267	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:90857267T>C	ENST00000394980.1	+	7	2755	c.2436T>C	c.(2434-2436)gaT>gaC	p.D812D	MMRN1_ENST00000508372.1_Silent_p.D554D|MMRN1_ENST00000264790.2_Silent_p.D812D|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	812					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTCCCAGAGATGAGAAACTAA	0.383000													9	30					0	0	1	0	0
GJA10	84694	broad.mit.edu	37	6	90605283	90605283	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:90605283C>G	ENST00000369352.1	+	1	1096	c.1096C>G	c.(1096-1098)Cag>Gag	p.Q366E		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	366					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TACAATGTCTCAGTCCTGGCT	0.552000													95	65					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130152935	130152935	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:130152935G>T	ENST00000373387.4	+	27	3111	c.2759G>T	c.(2758-2760)gGt>gTt	p.G920V	GARNL3_ENST00000496711.1_3'UTR|GARNL3_ENST00000435213.2_Missense_Mutation_p.G898V|GARNL3_ENST00000314904.5_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	920					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCGGATGAAGGTGGACCCAAG	0.537000													79	71					2.70572e-37	2.9591e-37	1	1	0
NCOA2	10499	broad.mit.edu	37	8	71036267	71036267	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:71036267C>T	ENST00000452400.2	-	21	4326	c.4145G>A	c.(4144-4146)aGc>aAc	p.S1382N	NCOA2_ENST00000267974.4_Missense_Mutation_p.S470N	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1382					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			ACTGTACATGCTGGTGTTTGC	0.473000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""								40	23					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293741	62293741	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62293741C>T	ENST00000378024.4	-	5	8422	c.8148G>A	c.(8146-8148)ctG>ctA	p.L2716L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2716					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGTCCTTTCAGGTTTAAGT	0.473000													58	181					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156247778	156247778	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156247778C>T	ENST00000361813.5	-	3	379	c.235G>A	c.(235-237)Gag>Aag	p.E79K	SMG5_ENST00000368267.5_Missense_Mutation_p.E79K	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	79					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					AGCAGCTCCTCAGCCTTTCTC	0.502000													28	118					0	0	1	0	0
ADIPOR1	51094	broad.mit.edu	37	1	202917512	202917512	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:202917512C>T	ENST00000340990.5	-	3	476	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	ADIPOR1_ENST00000367254.3_Missense_Mutation_p.E60K|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.E60K	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	60					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			TCCTCCTCTTCTTCCTGGGGC	0.507000													11	48					0	0	1	0	0
FOXN2	3344	broad.mit.edu	37	2	48573386	48573386	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:48573386G>A	ENST00000340553.3	+	3	294	c.33G>A	c.(31-33)aaG>aaA	p.K11K		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	11					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			CTCCAGATAAGAGAGCTGAAA	0.423000													76	15					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69370440	69370440	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69370440C>A	ENST00000306875.4	-	2	667	c.553G>T	c.(553-555)Gag>Tag	p.E185*	RP11-343C2.9_ENST00000563634.1_Nonsense_Mutation_p.E60*|RP11-343C2.7_ENST00000564737.1_3'UTR|COG8_ENST00000562081.1_Nonsense_Mutation_p.E185*	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	185					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TATTTCCTCTCCAGTCGGCGT	0.478000													10	35					9.31168e-06	9.53026e-06	1	1	0
OR4F15	390649	broad.mit.edu	37	15	102358647	102358647	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:102358647C>G	ENST00000332238.4	+	1	282	c.258C>G	c.(256-258)ttC>ttG	p.F86L		NM_001001674.1	NP_001001674.1	Q8NGB8	O4F15_HUMAN	olfactory receptor, family 4, subfamily F, member 15	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GTGATATTTTCAAGAAGCACA	0.463000													22	84					0	0	1	0	0
LIPG	9388	broad.mit.edu	37	18	47101864	47101864	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:47101864C>T	ENST00000261292.4	+	5	975	c.697C>T	c.(697-699)Cag>Tag	p.Q233*	LIPG_ENST00000577628.1_Nonsense_Mutation_p.Q269*|LIPG_ENST00000427224.2_Intron|LIPG_ENST00000580036.1_Nonsense_Mutation_p.Q233*	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	233					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CATTGGTATTCAGATGCCTGT	0.532000													37	51					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56716381	56716381	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:56716381G>C	ENST00000370754.5	-	4	438	c.439C>G	c.(439-441)Cgc>Ggc	p.R147G	RP11-472M19.2_ENST00000426453.1_RNA			Q03001	DYST_HUMAN	dystonin	0	Actin-binding.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATAGAGCAGCGATAGGACGCG	0.478000											OREG0017515	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	13					0	0	1	0	0
PSME1	5720	broad.mit.edu	37	14	24606976	24606976	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:24606976G>A	ENST00000382708.3	+	6	423	c.360G>A	c.(358-360)gaG>gaA	p.E120E	PSME1_ENST00000206451.6_Silent_p.E120E|PSME1_ENST00000561435.1_Silent_p.E120E|PSME1_ENST00000559123.1_5'UTR	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	120					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		TGAAGCCTGAGATCAAGGATG	0.512000													29	48					0	0	1	0	0
TGM1	7051	broad.mit.edu	37	14	24727513	24727513	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:24727513G>A	ENST00000206765.6	-	9	1503	c.1380C>T	c.(1378-1380)gcC>gcT	p.A460A	TGM1_ENST00000544573.1_Silent_p.A18A	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	460					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CTTGGGGTGTGGCATCCACCA	0.592000													21	29					0	0	1	0	0
SNX19	399979	broad.mit.edu	37	11	130785702	130785702	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:130785702G>C	ENST00000265909.4	-	1	702	c.133C>G	c.(133-135)Ctg>Gtg	p.L45V	SNX19_ENST00000528555.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000530356.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.L45V|SNX19_ENST00000539184.1_Intron	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	45					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ACGTTGACCAGAAGGTGTATG	0.587000													20	71					0	0	1	0	0
TUBE1	51175	broad.mit.edu	37	6	112400906	112400906	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:112400906C>A	ENST00000368662.5	-	6	456	c.378G>T	c.(376-378)gaG>gaT	p.E126D	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	126					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TTCTGAATTTCTCTAAAATCT	0.358000													20	25					1.01871e-10	1.06258e-10	1	1	0
KMT2D	8085	broad.mit.edu	37	12	49447270	49447270	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:49447270G>A	ENST00000301067.7	-	6	827	c.828C>T	c.(826-828)tgC>tgT	p.C276C		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		TGCAGGCTTGGCACACTTTGC	0.557000													6	16					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22806745	22806745	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:22806745C>T	ENST00000361524.3	-	4	1285	c.1137G>A	c.(1135-1137)aaG>aaA	p.K379K	ZNF521_ENST00000584787.1_Silent_p.K159K|ZNF521_ENST00000538137.2_Silent_p.K379K	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	379					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding	p.K379N(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TCCCTCGACTCTTTGGGATTG	0.532000			T	PAX5	ALL								20	77					0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1272679	1272679	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:1272679G>A	ENST00000447027.1	+	31	14636	c.14578G>A	c.(14578-14580)Gtg>Atg	p.V4860M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V4857M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4857	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TATAGCCACCGTGATGGTGCC	0.632000													32	138					0	0	1	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32210977	32210977	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:32210977G>C	ENST00000492345.1	+	7	1192	c.507G>C	c.(505-507)caG>caC	p.Q169H	CBFA2T2_ENST00000359606.3_Missense_Mutation_p.Q208H|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.Q169H|CBFA2T2_ENST00000346541.3_Missense_Mutation_p.Q198H|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.Q198H|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.Q189H			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	198	TAFH.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CGGCCAAGCAGACCCCATCCC	0.582000													32	129					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105419487	105419487	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:105419487C>T	ENST00000333244.5	-	7	2420	c.2301G>A	c.(2299-2301)aaG>aaA	p.K767K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	767						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)			CTTTGGGCATCTTCAAACTGG	0.617000													46	25					0	0	1	0	0
TPP2	7174	broad.mit.edu	37	13	103275268	103275268	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:103275268C>T	ENST00000376052.3	+	6	678	c.662C>T	c.(661-663)tCt>tTt	p.S221F	TPP2_ENST00000376065.4_Missense_Mutation_p.S221F			P29144	TPP2_HUMAN	tripeptidyl peptidase II	221					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGAGTAAATCTACCGTGTTG	0.343000													23	109					0	0	1	0	0
FAM3D	131177	broad.mit.edu	37	3	58631354	58631354	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:58631354C>G	ENST00000358781.2	-	5	456		c.e5-1			NM_138805.2	NP_620160.1	Q96BQ1	FAM3D_HUMAN	family with sequence similarity 3, member D						negative regulation of insulin secretion	extracellular region	cytokine activity			large_intestine(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(55;0.000225)|Kidney(10;0.000667)|KIRC - Kidney renal clear cell carcinoma(10;0.000802)|OV - Ovarian serous cystadenocarcinoma(275;0.169)		TTTTTAACCTCTGGGGAGGAA	0.587000													57	34					0	0	1	0	0
TOX2	84969	broad.mit.edu	37	20	42694696	42694696	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:42694696C>A	ENST00000358131.5	+	6	1459	c.1251C>A	c.(1249-1251)ccC>ccA	p.P417P	TOX2_ENST00000372999.1_Silent_p.P393P|TOX2_ENST00000423191.2_Silent_p.P393P|TOX2_ENST00000341197.4_Silent_p.P435P|TOX2_ENST00000435864.2_3'UTR	NM_001098798.1	NP_001092268.1	Q96NM4	TOX2_HUMAN	TOX high mobility group box family member 2	417	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			TGCCCACCCCCATGGCACTCC	0.677000													48	25					2.47907e-22	2.69769e-22	1	1	0
SEC23B	10483	broad.mit.edu	37	20	18535017	18535017	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:18535017G>A	ENST00000336714.3	+	18	2563	c.2131G>A	c.(2131-2133)Gag>Aag	p.E711K	SEC23B_ENST00000377465.1_Missense_Mutation_p.E711K|SEC23B_ENST00000377475.3_Missense_Mutation_p.E711K|SEC23B_ENST00000262544.2_Missense_Mutation_p.E711K	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	711					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CATCAACACGGAGCATGGAGG	0.458000													78	63					0	0	1	0	0
NFE2	4778	broad.mit.edu	37	12	54686942	54686942	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:54686942G>C	ENST00000540264.2	-	2	847	c.338C>G	c.(337-339)tCa>tGa	p.S113*	RP11-968A15.8_ENST00000553061.1_RNA|NFE2_ENST00000435572.2_Nonsense_Mutation_p.S113*|NFE2_ENST00000553070.1_Nonsense_Mutation_p.S113*|NFE2_ENST00000312156.4_Nonsense_Mutation_p.S113*			Q16621	NFE2_HUMAN	nuclear factor, erythroid 2	113	Transactivation domain.				blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	actin cytoskeleton|cytoplasm|PML body	protein dimerization activity|protein N-terminus binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|WW domain binding	p.S113*(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GAGCAGGCCTGAGAGGCTCAG	0.592000													44	108					0	0	1	0	0
CCDC88A	55704	broad.mit.edu	37	2	55523009	55523009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:55523009G>A	ENST00000436346.1	-	31	6116	c.5275C>T	c.(5275-5277)Cga>Tga	p.R1759*	CCDC88A_ENST00000263630.8_Nonsense_Mutation_p.R1731*|CCDC88A_ENST00000413716.2_Intron|CCDC88A_ENST00000336838.6_Nonsense_Mutation_p.R1758*|CCDC88A_ENST00000422883.2_Nonsense_Mutation_p.R260*	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1759					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCAGTTTTTCGAGGACCAGGT	0.438000													36	43					0	0	1	0	0
FAM212A	389119	broad.mit.edu	37	3	49842359	49842359	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:49842359C>A	ENST00000333323.4	+	2	936	c.803C>A	c.(802-804)gCa>gAa	p.A268E		NM_203370.1	NP_976248.1	Q96EL1	CC054_HUMAN	family with sequence similarity 212, member A	266																	TCACGCTTTGCAGCTCTCATG	0.597000													70	216					1.23719e-20	1.34406e-20	1	1	0
LAPTM4A	9741	broad.mit.edu	37	2	20251240	20251240	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:20251240G>A	ENST00000175091.4	-	1	549	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	14					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGTGCTGTAGAACCGGTCAC	0.642000													13	15					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51118560	51118560	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51118560C>T	ENST00000301180.5	+	28	3325	c.3291C>T	c.(3289-3291)gtC>gtT	p.V1097V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1097						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TTTTCTAGGTCAGCAAAGCAG	0.532000													8	53					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535708	124535708	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:124535708G>A	ENST00000408936.3	+	12	3083	c.2901G>A	c.(2899-2901)ctG>ctA	p.L967L	DAB2IP_ENST00000259371.2_Silent_p.L939L|DAB2IP_ENST00000309989.1_Silent_p.L843L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	967					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTACCCGCCTGAGGCAGCAGT	0.657000													16	8					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	101038512	101038512	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:101038512G>A	ENST00000193391.7	-	2	437	c.250C>T	c.(250-252)Ctg>Ttg	p.L84L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	84					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTAGGAAACAGAATAGATCTC	0.428000													27	85					0	0	1	0	0
CCDC73	493860	broad.mit.edu	37	11	32705116	32705116	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:32705116G>C	ENST00000531481.1	-	7	671	c.395C>G	c.(394-396)tCt>tGt	p.S132C	CCDC73_ENST00000335185.5_Missense_Mutation_p.S132C|CCDC73_ENST00000534415.1_5'UTR			Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	132										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					AGAGTATTTAGAAACCTTGAA	0.328000													29	7					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130292929	130292929	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:130292929G>A	ENST00000358511.6	+	7	3138	c.3107G>A	c.(3106-3108)aGa>aAa	p.R1036K	COL6A6_ENST00000453409.2_Missense_Mutation_p.R1036K	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1036	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGCCTCAACAGAGTGCGAATA	0.418000													3	12					0	0	1	0	0
CFL2	1073	broad.mit.edu	37	14	35182587	35182587	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:35182587C>G	ENST00000341223.3	-	2	335	c.184G>C	c.(184-186)Gat>Cat	p.D62H	CFL2_ENST00000555765.1_Missense_Mutation_p.D45H|CFL2_ENST00000298159.6_Missense_Mutation_p.D62H|CFL2_ENST00000556161.1_Missense_Mutation_p.D45H	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	62	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TCTACAGTATCACCAATGTCA	0.398000													20	28					0	0	1	0	0
SLC52A1	55065	broad.mit.edu	37	17	4937171	4937171	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:4937171C>G	ENST00000512825.2	-	3	2024	c.613G>C	c.(613-615)Gtc>Ctc	p.V205L	SLC52A1_ENST00000424747.1_Missense_Mutation_p.V205L|SLC52A1_ENST00000254853.5_Missense_Mutation_p.V205L			Q9NWF4	RFT_HUMAN	solute carrier family 52 (riboflavin transporter), member 1	205						integral to plasma membrane	receptor activity|riboflavin transporter activity										GCTGAAGTGACCAGAAGGGCA	0.622000													30	189					0	0	1	0	0
CTIF	9811	broad.mit.edu	37	18	46287980	46287980	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:46287980G>A	ENST00000256413.3	+	9	1586	c.1291G>A	c.(1291-1293)Gct>Act	p.A431T	CTIF_ENST00000382998.4_Missense_Mutation_p.A433T	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	431	MIF4G.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CGCCTTCACCGCTGCCAAGCT	0.617000													35	100					0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141765569	141765569	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:141765569C>T	ENST00000475668.2	+	40	4762	c.4708C>T	c.(4708-4710)Cgc>Tgc	p.R1570C	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1570	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GATGTGTGTTCGCTGGATGCA	0.483000													21	15					0	0	1	0	0
WDR60	55112	broad.mit.edu	37	7	158672547	158672547	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:158672547C>T	ENST00000407559.3	+	5	904	c.746C>T	c.(745-747)tCt>tTt	p.S249F		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	249										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AATTCATTCTCTGACAAAGGG	0.398000													12	11					0	0	1	0	0
OBSL1	23363	broad.mit.edu	37	2	220432452	220432452	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:220432452G>A	ENST00000404537.1	-	3	1578	c.1522C>T	c.(1522-1524)Ctc>Ttc	p.L508F	OBSL1_ENST00000373873.4_Missense_Mutation_p.L508F|OBSL1_ENST00000373876.1_Missense_Mutation_p.L508F|OBSL1_ENST00000289656.3_Missense_Mutation_p.L95F|OBSL1_ENST00000265318.4_Missense_Mutation_p.L508F|OBSL1_ENST00000603926.1_Missense_Mutation_p.L508F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	508					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TTTACTCTGAGAAGCGTAGTG	0.597000													22	66					0	0	1	0	0
RNF6	6049	broad.mit.edu	37	13	26788716	26788716	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:26788716C>T	ENST00000381588.4	-	5	2055	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	RNF6_ENST00000399762.2_Missense_Mutation_p.E79K|RNF6_ENST00000346166.3_Missense_Mutation_p.E435K|RNF6_ENST00000381570.3_Missense_Mutation_p.E435K|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	435					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		CTATTGCTTTCAATAGTGACT	0.438000													39	126					0	0	1	0	0
STX3	6809	broad.mit.edu	37	11	59560641	59560641	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:59560641C>T	ENST00000535361.1	+	7	1083	c.536C>T	c.(535-537)tCt>tTt	p.S179F	STX3_ENST00000529177.1_Missense_Mutation_p.S179F|STX3_ENST00000437946.2_Missense_Mutation_p.S82F|STX3_ENST00000300150.7_Missense_Mutation_p.S148F|STX3_ENST00000337979.4_Missense_Mutation_p.S179F			Q13277	STX3_HUMAN	syntaxin 3	179					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						ATCTTCACTTCTGGGGTGAGT	0.562000													20	14					0	0	1	0	0
COX15	1355	broad.mit.edu	37	10	101480768	101480768	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:101480768G>C	ENST00000370483.5	-	6	858	c.808C>G	c.(808-810)Ctg>Gtg	p.L270V	COX15_ENST00000016171.5_Missense_Mutation_p.L270V|CUTC_ENST00000493385.1_Intron	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	270					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		AGGAACACCAGACCTGCTGTT	0.463000													7	13					0	0	1	0	0
SMURF2	64750	broad.mit.edu	37	17	62543775	62543775	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:62543775G>C	ENST00000262435.9	-	17	2201	c.2014C>G	c.(2014-2016)Ctt>Gtt	p.L672V		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	672	HECT.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			ACAAACTGAAGCAATCTTGCT	0.517000													101	106					0	0	1	0	0
SCEL	8796	broad.mit.edu	37	13	78163292	78163292	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:78163292C>T	ENST00000535157.1	+	9	663	c.493C>T	c.(493-495)Cac>Tac	p.H165Y	SCEL_ENST00000377246.3_Missense_Mutation_p.H187Y|SCEL_ENST00000349847.3_Missense_Mutation_p.H187Y	NM_001160706.1	NP_001154178.1	O95171	SCEL_HUMAN	sciellin	187					embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ACCAGGTGTTCACCCTCCAAT	0.393000													14	70					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607760	21607760	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21607760C>T	ENST00000392288.2	+	4	2408	c.2299C>T	c.(2299-2301)Cat>Tat	p.H767Y	ZNF493_ENST00000355504.4_Missense_Mutation_p.H639Y|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TATTGGAATTCATACTGAAGA	0.378000													12	6					0	0	1	0	0
AKT1	207	broad.mit.edu	37	14	105242100	105242100	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:105242100G>A	ENST00000554581.1	-	4	1804	c.324C>T	c.(322-324)gaC>gaT	p.D108D	AKT1_ENST00000407796.2_Silent_p.D108D|AKT1_ENST00000555528.1_Silent_p.D108D|AKT1_ENST00000349310.3_Silent_p.D108D|AKT1_ENST00000544168.1_Silent_p.D46D|AKT1_ENST00000402615.2_Silent_p.D108D|AKT1_ENST00000554848.1_Silent_p.D108D			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	108	PH.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TCTTGAGGCCGTCAGCCACAG	0.617000		1	Mis		"""breast, colorectal, ovarian, NSCLC"""								21	7					0	0	1	0	0
ADAM22	53616	broad.mit.edu	37	7	87757967	87757967	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:87757967G>C	ENST00000398204.4	+	9	1052	c.729G>C	c.(727-729)ctG>ctC	p.L243L	ADAM22_ENST00000398209.3_Silent_p.L243L|ADAM22_ENST00000265727.7_Silent_p.L243L|ADAM22_ENST00000439864.1_Silent_p.L243L|ADAM22_ENST00000398201.4_Silent_p.L243L|ADAM22_ENST00000315984.7_Silent_p.L243L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	243	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ACATTGAACTGATGATTGTGA	0.383000													31	51					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9808346	9808346	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:9808346C>T	ENST00000226193.5	-	1	592	c.152G>A	c.(151-153)aGc>aAc	p.S51N		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	51	EF-hand 1.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGCGTAGATGCTCTGGAACTG	0.602000													6	12					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133044290	133044290	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:133044290C>A	ENST00000262283.5	-	16	1604	c.1505G>T	c.(1504-1506)aGa>aTa	p.R502I	OC90_ENST00000603859.1_Missense_Mutation_p.R290I|OC90_ENST00000254627.3_Missense_Mutation_p.R290I|OC90_ENST00000443356.2_Missense_Mutation_p.R306I			Q02509	OC90_HUMAN	otoconin 90	306					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			GAAGGTGAATCTGTCACAGGC	0.547000													41	275					1.47857e-17	1.59569e-17	1	1	0
PAPOLB	56903	broad.mit.edu	37	7	4899851	4899851	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:4899851C>G	ENST00000404991.1	-	1	1774	c.1588G>C	c.(1588-1590)Gaa>Caa	p.E530Q	RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron	NM_020144.4	NP_064529.4	Q9NRJ5	PAPOB_HUMAN	poly(A) polymerase beta (testis specific)	530					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		ATGCTGTTTTCACAGCCTGCA	0.468000													54	44					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167096654	167096654	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:167096654C>A	ENST00000361200.2	+	6	2452	c.2286C>A	c.(2284-2286)tgC>tgA	p.C762*	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Nonsense_Mutation_p.C762*|DUSP27_ENST00000443333.1_Nonsense_Mutation_p.C762*			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	762					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CGGCTAGCTGCCTGGGGGATG	0.562000													102	33					6.13486e-44	6.74319e-44	1	1	0
NEB	4703	broad.mit.edu	37	2	152468805	152468805	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:152468805C>G	ENST00000427231.2	-	78	11902	c.11700G>C	c.(11698-11700)ctG>ctC	p.L3900L	NEB_ENST00000604864.1_Silent_p.L3900L|NEB_ENST00000603639.1_Silent_p.L3900L|NEB_ENST00000409198.1_Silent_p.L3657L|NEB_ENST00000397345.3_Silent_p.L3900L|NEB_ENST00000172853.10_Silent_p.L3657L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3900					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TCCTGTCACTCAGGATTTCTC	0.473000													49	6					0	0	1	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213613	3213613	+	RNA	SNP	G	G	T	rs142355510		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:3213613G>T	ENST00000573491.1	-	0	359																											CCATGGATCTGGGGAACTCAG	0.512000													37	146					1.00001e-27	1.09183e-27	1	1	0
MYH9	4627	broad.mit.edu	37	22	36681357	36681357	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:36681357C>T	ENST00000216181.5	-	38	5523	c.5293G>A	c.(5293-5295)Gac>Aac	p.D1765N	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1765					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGGTTCAGGTCGGTGTTGATC	0.617000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				36	118					0	0	1	0	0
ZNF230	7773	broad.mit.edu	37	19	44514657	44514657	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:44514657G>C	ENST00000429154.2	+	5	694	c.466G>C	c.(466-468)Gat>Cat	p.D156H		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	156	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				TGCCATCTTTGATCCTCCTCA	0.453000													79	117					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2640753	2640753	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:2640753G>C	ENST00000380843.4	-	9	868	c.838C>G	c.(838-840)Ctg>Gtg	p.L280V	IDH3B_ENST00000380851.5_Missense_Mutation_p.L280V|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	280					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CCAGCAGCCAGATTGTCAATA	0.517000													38	55					0	0	1	0	0
LRRC8E	80131	broad.mit.edu	37	19	7964521	7964521	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:7964521C>T	ENST00000306708.6	+	3	1215	c.1114C>T	c.(1114-1116)Cag>Tag	p.Q372*	AC010336.1_ENST00000539278.1_3'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	372						integral to membrane		p.Q372*(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CCTCATCGATCAGTACGACTC	0.572000													17	49					0	0	1	0	0
DAPK1	1612	broad.mit.edu	37	9	90283556	90283556	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:90283556G>C	ENST00000469640.2	+	19	2343	c.1968G>C	c.(1966-1968)gaG>gaC	p.E656D	DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000358077.5_Missense_Mutation_p.E656D|DAPK1_ENST00000472284.1_Missense_Mutation_p.E656D|DAPK1_ENST00000408954.3_Missense_Mutation_p.E656D|DAPK1_ENST00000491893.1_Missense_Mutation_p.E656D			P53355	DAPK1_HUMAN	death-associated protein kinase 1	656					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AACAGCACGAGCACGTAGCAG	0.428000									Chronic Lymphocytic Leukemia, Familial Clustering of				58	209					0	0	1	0	0
CHERP	10523	broad.mit.edu	37	19	16652774	16652774	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:16652774C>G	ENST00000546361.2	-	2	257	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	CHERP_ENST00000198939.6_Missense_Mutation_p.E36Q|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	36					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						TTCTGCTTCTCCATAGTCATC	0.532000													21	40					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49698105	49698105	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:49698105G>A	ENST00000296452.4	+	6	8941	c.8827G>A	c.(8827-8829)Gag>Aag	p.E2943K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2943					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTGCTCCGGGAGCTGGACCG	0.657000													7	22					0	0	1	0	0
MIS18BP1	55320	broad.mit.edu	37	14	45693269	45693269	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:45693269C>T	ENST00000310806.4	-	11	2979	c.2521G>A	c.(2521-2523)Gaa>Aaa	p.E841K		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	841					cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						TGAAGAGTTTCTTTGACGGAA	0.358000													5	12					0	0	1	0	0
C15orf59	388135	broad.mit.edu	37	15	74032703	74032703	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:74032703G>A	ENST00000569673.1	-	3	1641	c.437C>T	c.(436-438)aCg>aTg	p.T146M	C15orf59_ENST00000379822.4_Missense_Mutation_p.T146M|C15orf59_ENST00000558834.1_5'UTR			Q2T9L4	CO059_HUMAN	chromosome 15 open reading frame 59	146										breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGGGATGGGCGTGCCACCATT	0.667000													19	64					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32912648	32912648	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32912648G>T	ENST00000544455.1	+	11	4383	c.4156G>T	c.(4156-4158)Gat>Tat	p.D1386Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.D1386Y	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1386					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGATTTGTCAGATTTAACTTT	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	36					0.00136819	0.0013916	1	1	0
BOLA3	388962	broad.mit.edu	37	2	74369455	74369455	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74369455C>G	ENST00000327428.5	-	3	321	c.202G>C	c.(202-204)Gaa>Caa	p.E68Q	BOLA3_ENST00000295326.4_Intron	NM_212552.2	NP_997717.2	Q53S33	BOLA3_HUMAN	bolA family member 3	68						extracellular region				large_intestine(1)|lung(1)	2						TCTTCTGATTCAATTTTAATT	0.423000													34	65					0	0	1	0	0
CYP2A6	1548	broad.mit.edu	37	19	41351241	41351241	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:41351241T>C	ENST00000301141.5	-	7	1139	c.1119A>G	c.(1117-1119)agA>agG	p.R373R	CTC-490E21.12_ENST00000601627.1_Intron	NM_000762.5	NP_000753	P11509	CP2A6_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 6	373					coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)	37			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752)	CCTTTTTGACTCTGCGGGCCA	0.572000													5	270					0	0	1	0	0
TTC16	158248	broad.mit.edu	37	9	130489656	130489656	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:130489656C>T	ENST00000373289.3	+	12	1756	c.1676C>T	c.(1675-1677)cCt>cTt	p.P559L	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	559							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AAGGCCACCCCTGAGATTCCG	0.577000													15	11					0	0	1	0	0
OTOP1	133060	broad.mit.edu	37	4	4199382	4199382	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:4199382G>A	ENST00000296358.4	-	5	1203	c.1179C>T	c.(1177-1179)ctC>ctT	p.L393L		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	393					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TGCCCACCAAGAGGTCCGAGT	0.597000													55	62					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62254674	62254674	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:62254674C>A	ENST00000261517.5	-	34	3572	c.3499G>T	c.(3499-3501)Gag>Tag	p.E1167*	VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E1124*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E1167*|VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E1124*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1167					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAATCCCCCTCAGTAGCATCT	0.388000													121	92					1.18608e-55	1.31474e-55	1	1	0
C1orf173	127254	broad.mit.edu	37	1	75037069	75037069	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:75037069G>C	ENST00000326665.5	-	14	4543	c.4325C>G	c.(4324-4326)tCa>tGa	p.S1442*	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1442	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCCTAGCCCTGAGGTCTTCCG	0.612000													58	159					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607440	53607440	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:53607440C>G	ENST00000425354.2	-	8	1345	c.858G>C	c.(856-858)atG>atC	p.M286I	RARG_ENST00000543726.1_Missense_Mutation_p.M264I|RARG_ENST00000338561.5_Missense_Mutation_p.M275I|RARG_ENST00000394426.1_Missense_Mutation_p.M286I|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.M214I	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	286	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CGGAGAAGGTCATGGTGTCCT	0.607000											OREG0021862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	91	65					0	0	1	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128936700	128936700	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:128936700G>C	ENST00000310343.9	-	6	552	c.553C>G	c.(553-555)Ctg>Gtg	p.L185V	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.L111V	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	185	PX; atypical.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TAAATACACAGATGAAGATGT	0.373000													5	28					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62849139	62849139	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:62849139C>T	ENST00000512091.2	+	18	3597	c.2850C>T	c.(2848-2850)ttC>ttT	p.F950F	LPHN3_ENST00000506700.1_Silent_p.F950F|LPHN3_ENST00000514157.1_Silent_p.F950F|LPHN3_ENST00000506720.1_Silent_p.F1018F|LPHN3_ENST00000507625.1_Silent_p.F1018F|LPHN3_ENST00000507164.1_Silent_p.F1018F|LPHN3_ENST00000514996.1_Silent_p.F950F|LPHN3_ENST00000504896.1_Silent_p.F950F|LPHN3_ENST00000511324.1_Silent_p.F1018F|LPHN3_ENST00000514591.1_Silent_p.F950F|LPHN3_ENST00000509896.1_Silent_p.F1018F|LPHN3_ENST00000506746.1_Silent_p.F1018F|LPHN3_ENST00000508946.1_Silent_p.F950F|LPHN3_ENST00000545650.1_Silent_p.F950F|LPHN3_ENST00000508693.1_Silent_p.F1018F			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TACATTTCTTCTTCTTGGCTG	0.438000													10	18					0	0	1	0	0
ZNF544	27300	broad.mit.edu	37	19	58772799	58772799	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:58772799G>T	ENST00000269829.4	+	7	1301	c.827G>T	c.(826-828)gGa>gTa	p.G276V	ZNF544_ENST00000595981.1_Intron|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.G248V|ZNF544_ENST00000600044.1_Missense_Mutation_p.G248V|ZNF544_ENST00000600220.1_Missense_Mutation_p.G248V|ZNF544_ENST00000599953.1_Missense_Mutation_p.G134V|ZNF544_ENST00000596652.1_Missense_Mutation_p.G276V|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AAGGATTATGGAAACCTCTTC	0.413000													12	80					2.61681e-11	2.73386e-11	1	1	0
TFR2	7036	broad.mit.edu	37	7	100231073	100231073	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:100231073C>T	ENST00000462107.1	-	5	867	c.580G>A	c.(580-582)Gac>Aac	p.D194N	TFR2_ENST00000223051.3_Missense_Mutation_p.D194N|TFR2_ENST00000431692.1_Missense_Mutation_p.D194N			Q9UP52	TFR2_HUMAN	transferrin receptor 2	194					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TAGTGCGTGTCGGTCCACACG	0.741000													20	29					0	0	1	0	0
FAM171A1	221061	broad.mit.edu	37	10	15326105	15326105	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:15326105C>G	ENST00000378116.4	-	2	104		c.e2-1			NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1							integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AACGTCACCTCTGGAGGTAGA	0.527000													15	65					0	0	1	0	0
TFRC	7037	broad.mit.edu	37	3	195780393	195780393	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:195780393G>A	ENST00000360110.4	-	18	2105	c.1936C>T	c.(1936-1938)Cgt>Tgt	p.R646C	TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000535031.1_Missense_Mutation_p.R364C|TFRC_ENST00000392396.3_Missense_Mutation_p.R646C|TFRC_ENST00000420415.1_Missense_Mutation_p.R565C	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	646	Ligand-binding.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity	p.R646S(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		AAGTCTCCACGAGCAGAATAC	0.403000			T	BCL6	NHL								68	59					0	0	1	0	0
RANBP6	26953	broad.mit.edu	37	9	6015556	6015556	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:6015556C>G	ENST00000259569.5	-	1	62	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	RANBP6_ENST00000485372.1_5'UTR	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	18					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TGGTAAAACTCTTGCTTTTCT	0.552000													30	304					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170610195	170610195	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:170610195G>A	ENST00000523189.1	+	17	2054	c.1890G>A	c.(1888-1890)gtG>gtA	p.V630V	RANBP17_ENST00000521759.1_Intron	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	630					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAAAACTTGTGAAGATAGATG	0.264000			T	TRD@	ALL								18	1					0	0	1	0	0
TIMM44	10469	broad.mit.edu	37	19	7992542	7992542	+	Splice_Site	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:7992542C>T	ENST00000270538.3	-	12	1507	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	TIMM44_ENST00000598968.1_5'UTR	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	413					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						CCTCACTCACCGGGTCACCCT	0.627000													106	88					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100363105	100363105	+	RNA	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:100363105C>T	ENST00000542585.1	+	0	4546				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATCCGGGCTTCGTCCTCAGTG	0.627000													16	25					0	0	1	0	0
CEP192	55125	broad.mit.edu	37	18	13092445	13092445	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:13092445C>T	ENST00000506447.1	+	34	6253	c.6173C>T	c.(6172-6174)tCa>tTa	p.S2058L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000325971.8_Missense_Mutation_p.S1462L|CEP192_ENST00000430049.2_Missense_Mutation_p.S1583L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1653								p.S2058L(1)|p.S1462L(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						ATTATACTTTCAGTAATTGGA	0.333000													12	49					0	0	1	0	0
MAP1S	55201	broad.mit.edu	37	19	17831750	17831750	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:17831750C>T	ENST00000324096.4	+	2	275	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	MAP1S_ENST00000544059.2_Missense_Mutation_p.R16W|MAP1S_ENST00000597681.1_Intron	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	42	Necessary for the microtubule-organizing center localization.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						ACCAGGCATCCGGTCTTGGGA	0.582000													8	128					0	0	1	0	0
TPI1	7167	broad.mit.edu	37	12	6976718	6976718	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:6976718C>T	ENST00000229270.4	+	1	436	c.99C>T	c.(97-99)ctC>ctT	p.L33L	TPI1_ENST00000396705.5_5'UTR	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	0					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCAGCGCCTCGGCTCCAGCG	0.642000													9	25					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642777	57642777	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:57642777G>A	ENST00000254181.4	+	4	3188	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	USP29_ENST00000598197.1_Missense_Mutation_p.E912K	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	912					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCCTCAGGGGGAATACGAAGG	0.468000													76	92					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142682017	142682017	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:142682017G>A	ENST00000340634.3	-	1	161	c.162C>T	c.(160-162)ttC>ttT	p.F54F	RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	54						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGCACTCCACGAAGTCGTCGG	0.687000													7	5					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45875047	45875047	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:45875047C>G	ENST00000311275.7	-	14	2182	c.1929G>C	c.(1927-1929)gaG>gaC	p.E643D	ZMYND8_ENST00000536340.1_Missense_Mutation_p.E670D|ZMYND8_ENST00000540497.1_Missense_Mutation_p.E591D|ZMYND8_ENST00000471951.2_Missense_Mutation_p.E663D|ZMYND8_ENST00000461685.1_Missense_Mutation_p.E663D|ZMYND8_ENST00000352431.2_Missense_Mutation_p.E663D|ZMYND8_ENST00000446994.2_Missense_Mutation_p.E580D|ZMYND8_ENST00000372023.3_Missense_Mutation_p.E638D|ZMYND8_ENST00000355972.4_Missense_Mutation_p.E643D|ZMYND8_ENST00000458360.2_Missense_Mutation_p.E638D|ZMYND8_ENST00000360911.3_Missense_Mutation_p.E638D|ZMYND8_ENST00000262975.4_Missense_Mutation_p.E643D|ZMYND8_ENST00000396281.4_Missense_Mutation_p.E643D|ZMYND8_ENST00000468376.2_5'UTR	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	643							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCTCTTTAATCTCCACTGGGT	0.512000													42	158					0	0	1	0	0
CEACAM19	56971	broad.mit.edu	37	19	45175238	45175238	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:45175238C>T	ENST00000358777.4	+	1	515	c.35C>T	c.(34-36)tCa>tTa	p.S12L	CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.S12L	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	12						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GGCTGCTTCTCAAAGAGCCTC	0.562000													12	17					0	0	1	0	0
ST3GAL6	10402	broad.mit.edu	37	3	98510824	98510824	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:98510824C>T	ENST00000265261.6	+	9	964	c.542C>T	c.(541-543)tCt>tTt	p.S181F	ST3GAL6_ENST00000394162.1_Missense_Mutation_p.S299F|ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.S299F	NM_001271142.1|NM_001271147.1	NP_001258071.1|NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	299					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GCCACCATGTCTTTGATGAAT	0.373000													23	53					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19196576	19196576	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:19196576C>G	ENST00000263200.10	-	21	3370	c.3298G>C	c.(3298-3300)Gag>Cag	p.E1100Q	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E1100Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E1100Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1100	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TTGCATCTCTCCGCAAACTCA	0.517000			T	?	ALCL								7	16					0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25203528	25203528	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:25203528G>C	ENST00000360031.2	+	12	1279	c.1097G>C	c.(1096-1098)aGa>aCa	p.R366T	ENTPD6_ENST00000376652.4_Missense_Mutation_p.R367T|ENTPD6_ENST00000433259.2_Missense_Mutation_p.R333T|ENTPD6_ENST00000485936.1_3'UTR|ENTPD6_ENST00000354989.5_Missense_Mutation_p.R350T	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	367						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTTCAAAACAGAGTGCACAGG	0.582000													116	65					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171292305	171292305	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171292305G>C	ENST00000367749.3	+	4	625	c.295G>C	c.(295-297)Gac>Cac	p.D99H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	99					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGAGCACTTTGACCTCCTGAA	0.373000													32	44					0	0	1	0	0
SLC30A10	55532	broad.mit.edu	37	1	220089088	220089088	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:220089088C>A	ENST00000366926.3	-	4	1322	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F	SLC30A10_ENST00000536446.1_Missense_Mutation_p.L142F|SLC30A10_ENST00000484079.1_5'UTR	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	387					zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GGGGTTCCTTCAAGTCCACAT	0.517000													25	130					2.79863e-10	2.9145e-10	1	1	0
MMEL1	79258	broad.mit.edu	37	1	2526322	2526322	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:2526322G>A	ENST00000288709.6	-	17	1808	c.1568C>T	c.(1567-1569)tCa>tTa	p.S523L	MMEL1_ENST00000378412.3_Missense_Mutation_p.S532L|MMEL1_ENST00000502556.1_Missense_Mutation_p.S375L	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	532					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CAGGTCCTCTGAGAAGTTCAG	0.607000													47	41					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51586129	51586129	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51586129G>A	ENST00000389243.4	-	9	1314	c.375C>T	c.(373-375)gtC>gtT	p.V125V	POU6F1_ENST00000333640.10_Silent_p.V125V|POU6F1_ENST00000550824.1_Silent_p.V125V			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	125	Gln/Pro-rich.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CCAACTGGCTGACGGTGGGGG	0.582000													52	176					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1268136	1268136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:1268136C>T	ENST00000339381.5	+	3	1257	c.1225C>T	c.(1225-1227)Cag>Tag	p.Q409*		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	409					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CAACACTCTTCAGTGCAACGC	0.637000													15	51					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112452258	112452258	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:112452258C>T	ENST00000230538.7	-	29	4277	c.3880G>A	c.(3880-3882)Gat>Aat	p.D1294N	LAMA4_ENST00000389463.4_Missense_Mutation_p.D1287N|LAMA4_ENST00000424408.2_Missense_Mutation_p.D1287N|LAMA4_ENST00000522006.1_Missense_Mutation_p.D1287N	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1294	Laminin G-like 3.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.D1287Y(1)|p.M1286_D1287>IY(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCCTTTACATCCATGATGACA	0.458000													23	42					0	0	1	0	0
RBM28	55131	broad.mit.edu	37	7	127978389	127978389	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:127978389C>T	ENST00000223073.2	-	5	570	c.456G>A	c.(454-456)aaG>aaA	p.K152K	RBM28_ENST00000415472.2_Intron	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 2.				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						AACCGCGCATCTTCCCATCTG	0.418000													14	51					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46593206	46593206	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:46593206C>T	ENST00000275016.2	-	7	1083	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	294					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TTGTGGATATCAGGATGAGAA	0.343000													142	112					0	0	1	0	0
TRIM32	22954	broad.mit.edu	37	9	119461344	119461344	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:119461344G>A	ENST00000450136.1	+	2	1484	c.1323G>A	c.(1321-1323)ctG>ctA	p.L441L	ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Silent_p.L441L|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	441					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						GCCAGGGGCTGATTGGTGTGA	0.547000													63	211					0	0	1	0	0
ACTR8	93973	broad.mit.edu	37	3	53905383	53905383	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:53905383C>A	ENST00000335754.3	-	11	1543	c.1443G>T	c.(1441-1443)ctG>ctT	p.L481L	ACTR8_ENST00000231909.7_Silent_p.L186L|ACTR8_ENST00000482349.1_Silent_p.L370L	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	481					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TGCCGGCCATCAGGCCATCTC	0.547000													87	78					2.65435e-51	2.9373e-51	1	1	0
LCA5	167691	broad.mit.edu	37	6	80223183	80223183	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:80223183C>T	ENST00000392959.1	-	4	1077	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	LCA5_ENST00000369846.4_Missense_Mutation_p.E156K|LCA5_ENST00000467898.3_Missense_Mutation_p.E156K	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	156					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TGTGAGATTTCATTTTCGGCA	0.378000													18	16					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62293851	62293851	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62293851C>G	ENST00000378024.4	-	5	8312	c.8038G>C	c.(8038-8040)Gat>Cat	p.D2680H	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2680					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATGTTAACATCAGGGCCTTCA	0.498000													53	159					0	0	1	0	0
FAM83F	113828	broad.mit.edu	37	22	40417887	40417887	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:40417887G>A	ENST00000333407.6	+	4	1467	c.1373G>A	c.(1372-1374)aGc>aAc	p.S458N	FAM83F_ENST00000473717.1_Missense_Mutation_p.S290N	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGCATGGCCAGCTCTGTCTCC	0.657000													14	80					0	0	1	0	0
SOCS5	9655	broad.mit.edu	37	2	46986049	46986049	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:46986049C>T	ENST00000306503.5	+	2	552	c.380C>T	c.(379-381)tCc>tTc	p.S127F	SOCS5_ENST00000394861.2_Missense_Mutation_p.S127F	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	127					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			AAAAAACATTCCTGTTCTACA	0.443000													18	37					0	0	1	0	0
SMG5	23381	broad.mit.edu	37	1	156230257	156230257	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156230257G>C	ENST00000361813.5	-	15	2412	c.2268C>G	c.(2266-2268)ctC>ctG	p.L756L	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	756					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CTAAGGTGCTGAGCAGGGGCC	0.562000													49	161					0	0	1	0	0
RPAP1	26015	broad.mit.edu	37	15	41816160	41816160	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:41816160C>T	ENST00000304330.4	-	17	2361	c.2245G>A	c.(2245-2247)Gag>Aag	p.E749K	RPAP1_ENST00000561603.1_Missense_Mutation_p.E749K	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	749						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		AGGCTGGCCTCAGCAGAATCA	0.587000													8	14					0	0	1	0	0
VPS26B	112936	broad.mit.edu	37	11	134113161	134113161	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:134113161G>C	ENST00000281187.5	+	4	1172	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	VPS26B_ENST00000525095.2_Missense_Mutation_p.E232Q	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	232					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		AGCCAAGTACGAGATCATGGA	0.537000													9	22					0	0	1	0	0
HHATL	57467	broad.mit.edu	37	3	42734575	42734575	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:42734575G>A	ENST00000441594.1	-	11	1645	c.1384C>T	c.(1384-1386)Ctc>Ttc	p.L462F	HHATL_ENST00000310417.5_Missense_Mutation_p.L462F	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	462					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TCACCTGTGAGTAGCAGGCGC	0.567000													4	264					0	0	1	0	0
DNM2	1785	broad.mit.edu	37	19	10934530	10934530	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:10934530G>C	ENST00000314646.5	+	17	2012	c.1848G>C	c.(1846-1848)tgG>tgC	p.W616C	DNM2_ENST00000355667.6_Missense_Mutation_p.W616C|DNM2_ENST00000359692.6_Missense_Mutation_p.W612C|DNM2_ENST00000585892.1_Missense_Mutation_p.W616C|DNM2_ENST00000408974.4_Missense_Mutation_p.W612C|DNM2_ENST00000389253.4_Missense_Mutation_p.W616C			P50570	DYN2_HUMAN	dynamin 2	616	PH.				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)			TGGACAGCTGGAAGGCCTCGT	0.657000			"""F, N, Splice, Mis, O"""		ETP ALL								30	49					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27437957	27437957	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:27437957G>A	ENST00000326799.3	-	2	194	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	YME1L1_ENST00000375972.3_Silent_p.L16L|YME1L1_ENST00000477432.1_Silent_p.L16L|YME1L1_ENST00000376016.3_Silent_p.L16L	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	16					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATGACTCAGAGGAACTGTA	0.338000													28	139					0	0	1	0	0
HIP1R	9026	broad.mit.edu	37	12	123338615	123338615	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:123338615C>T	ENST00000253083.4	+	8	728	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	201					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		ACACGGCCATCGCCGTATCCC	0.602000													88	246					0	0	1	0	0
TUBE1	51175	broad.mit.edu	37	6	112400898	112400898	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:112400898C>T	ENST00000368662.5	-	6	464	c.386G>A	c.(385-387)aGa>aAa	p.R129K	TUBE1_ENST00000604814.1_5'UTR	NM_016262.4	NP_057346.1	Q9UJT0	TBE_HUMAN	tubulin, epsilon 1	129					centrosome cycle|microtubule-based movement|protein polymerization	microtubule|pericentriolar material	GTP binding|GTPase activity|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	12		all_cancers(87;0.0101)|all_hematologic(75;0.000258)|Colorectal(196;0.0466)|all_epithelial(87;0.1)		all cancers(137;0.0217)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0636)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		TGCCGACTTTCTGAATTTCTC	0.368000													20	28					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727603	7727603	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:7727603C>T	ENST00000283147.6	+	1	574	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	139					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CATGCTGGATCTGTACAACGC	0.706000													19	55					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24387794	24387794	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:24387794C>T	ENST00000330966.7	-	34	4111	c.3949G>A	c.(3949-3951)Gag>Aag	p.E1317K	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1314K|MYOM3_ENST00000338909.5_Missense_Mutation_p.E207K			Q5VTT5	MYOM3_HUMAN	myomesin 3	1314										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ATTGCATCCTCAAAAGCTATA	0.502000													10	27					0	0	1	0	0
SS18	6760	broad.mit.edu	37	18	23612474	23612474	+	Silent	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:23612474A>T	ENST00000415083.2	-	10	1174	c.1119T>A	c.(1117-1119)ggT>ggA	p.G373G	SS18_ENST00000269137.7_Silent_p.G342G|SS18_ENST00000539849.1_Silent_p.G291G|SS18_ENST00000542743.1_Silent_p.G290G|SS18_ENST00000542420.2_Silent_p.G350G|SS18_ENST00000545952.1_Silent_p.G290G	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	373	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GATACTGAGGACCTGGACCAC	0.493000			T	"""SSX1,  SSX2"""	synovial sarcoma								22	57					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39782127	39782127	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:39782127G>C	ENST00000564288.1	+	28	4291	c.3514G>C	c.(3514-3516)Gag>Cag	p.E1172Q	MACF1_ENST00000361689.2_Missense_Mutation_p.E1177Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E1209Q|MACF1_ENST00000539005.1_Missense_Mutation_p.E1177Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E1177Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E1177Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E1177Q|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1177					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAAGGTTATGAGATTAAGCT	0.433000													82	50					0	0	1	0	0
ICOS	29851	broad.mit.edu	37	2	204820542	204820542	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:204820542A>T	ENST00000316386.6	+	2	309	c.242A>T	c.(241-243)aAa>aTa	p.K81I	ICOS_ENST00000435193.1_Missense_Mutation_p.K81I	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	81	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						AAGAGTCTGAAATTCTGCCAT	0.388000													29	63					0	0	1	0	0
PHF1	5252	broad.mit.edu	37	6	33380128	33380128	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:33380128C>T	ENST00000374516.3	+	2	359	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	PHF1_ENST00000374512.3_Missense_Mutation_p.R30W|PHF1_ENST00000459809.1_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	30					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCCAGGCCTCGGCTTTGGGA	0.607000													28	7					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51585498	51585498	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51585498G>C	ENST00000389243.4	-	10	1380	c.441C>G	c.(439-441)atC>atG	p.I147M	POU6F1_ENST00000333640.10_Missense_Mutation_p.I147M|POU6F1_ENST00000550824.1_Missense_Mutation_p.I147M			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	147	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						CAAACTCCCGGATCTCTTCTA	0.557000													52	118					0	0	1	0	0
EPS15	2060	broad.mit.edu	37	1	51913720	51913720	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:51913720T>A	ENST00000371733.3	-	9	745	c.649A>T	c.(649-651)Acg>Tcg	p.T217S	EPS15_ENST00000371730.2_Missense_Mutation_p.T217S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	217					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATACTGACCGTTTTTCTCTTA	0.463000			T	MLL	ALL								19	59					0	0	1	0	0
GABPB2	126626	broad.mit.edu	37	1	151065682	151065682	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:151065682G>T	ENST00000368918.3	+	4	622	c.291G>T	c.(289-291)gtG>gtT	p.V97V	GABPB2_ENST00000368916.1_Silent_p.V97V|GABPB2_ENST00000368917.1_Silent_p.V97V	NM_144618.2	NP_653219.1	Q8TAK5	GABP2_HUMAN	GA binding protein transcription factor, beta subunit 2	97					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		GTGCAGATGTGAATGCCAAGG	0.443000													90	168					2.51308e-46	2.76692e-46	1	1	0
IFI16	3428	broad.mit.edu	37	1	158985757	158985757	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:158985757G>C	ENST00000295809.7	+	3	616	c.361G>C	c.(361-363)Gag>Cag	p.E121Q	IFI16_ENST00000368132.3_Missense_Mutation_p.E121Q|IFI16_ENST00000430894.2_Missense_Mutation_p.E125Q|IFI16_ENST00000368131.4_Missense_Mutation_p.E121Q|IFI16_ENST00000448393.2_Missense_Mutation_p.E121Q|IFI16_ENST00000359709.3_Missense_Mutation_p.E121Q|IFI16_ENST00000340979.6_Missense_Mutation_p.E121Q			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	121	Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGAAGGAGCAGAGGCAACTCC	0.522000													33	84					0	0	1	0	0
CDH4	1002	broad.mit.edu	37	20	60509192	60509192	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:60509192G>C	ENST00000360469.5	+	15	2546	c.2458G>C	c.(2458-2460)Gat>Cat	p.D820H	CDH4_ENST00000543233.1_Missense_Mutation_p.D746H	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	820					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCGTCGCGTGGATGAGCGGCC	0.677000													11	74					0	0	1	0	0
KIAA1432	57589	broad.mit.edu	37	9	5772683	5772683	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:5772683G>A	ENST00000414202.2	+	24	3927	c.3736G>A	c.(3736-3738)Gag>Aag	p.E1246K	KIAA1432_ENST00000449720.2_Missense_Mutation_p.E1130K|KIAA1432_ENST00000418622.3_Missense_Mutation_p.E1167K	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1246						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GTCAGAGCTGGAGCACATTTC	0.468000													19	128					0	0	1	0	0
KLF13	51621	broad.mit.edu	37	15	31619856	31619856	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:31619856C>G	ENST00000307145.3	+	1	799	c.441C>G	c.(439-441)ctC>ctG	p.L147L		NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	147					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		AGCCCGGCCTCAGACAAAGGG	0.751000													4	6					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85741262	85741262	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:85741262G>A	ENST00000322366.6	-	12	2076	c.1669C>T	c.(1669-1671)Ctt>Ttt	p.L557F	WDFY3_ENST00000295888.4_Missense_Mutation_p.L557F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	557						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GATCCTTGAAGAAGCACTGTC	0.378000													35	145					0	0	1	0	0
TMEM132A	54972	broad.mit.edu	37	11	60702234	60702234	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:60702234G>A	ENST00000005286.4	+	9	1990	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	TMEM132A_ENST00000453848.2_Missense_Mutation_p.E612K	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	612	Binds to HSPA5/GRP78 (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CACCTCCATTGAGGTAAGCAG	0.667000													34	19					0	0	1	0	0
OR1C1	26188	broad.mit.edu	37	1	247920818	247920818	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:247920818C>T	ENST00000408896.2	-	1	1164	c.891G>A	c.(889-891)atG>atA	p.M297I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M297I(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTCCCCTCTTCATATCCCTGT	0.428000													61	46					0	0	1	0	0
CHST7	56548	broad.mit.edu	37	X	46434158	46434158	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:46434158G>A	ENST00000276055.3	+	1	940	c.792G>A	c.(790-792)ttG>ttA	p.L264L		NM_019886.2	NP_063939.2	Q9NS84	CHST7_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 7	264					chondroitin sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity|N-acetylglucosamine 6-O-sulfotransferase activity			breast(3)|endometrium(2)|kidney(1)|lung(2)	8						TGCCCCTGTTGCGTGATCCAG	0.657000													3	12					0	0	1	0	0
PLXNB3	5365	broad.mit.edu	37	X	153044065	153044065	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:153044065C>G	ENST00000538966.1	+	36	5901	c.5630C>G	c.(5629-5631)tCt>tGt	p.S1877C	PLXNB3_ENST00000361971.5_Missense_Mutation_p.S1854C|PLXNB3_ENST00000538776.1_Missense_Mutation_p.S1507C|SRPK3_ENST00000489426.1_5'UTR	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1854					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AACTACACTTCTGCTCCCCAC	0.612000													4	8					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115147614	115147614	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:115147614C>T	ENST00000393274.1	-	11	2221	c.1596G>A	c.(1594-1596)gaG>gaA	p.E532E	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.E475E|DENND2C_ENST00000393277.1_Silent_p.E532E	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	532	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTAAGTCTCTCTTCCATGT	0.343000													12	12					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129958857	129958857	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129958857G>A	ENST00000259351.5	+	13	1409	c.1142G>A	c.(1141-1143)cGa>cAa	p.R381Q	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	381					small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity	p.R381Q(1)		kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CGCAGCCCCCGAAGGGGCCTG	0.577000													31	75					0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41339643	41339643	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:41339643C>G	ENST00000361937.3	-	23	3122	c.2698G>C	c.(2698-2700)Gaa>Caa	p.E900Q	INO80_ENST00000401393.3_Missense_Mutation_p.E900Q			Q9ULG1	INO80_HUMAN	INO80 complex subunit	900	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTGCCATTTCTGCTGGAGAT	0.373000													26	21					0	0	1	0	0
FAM92A1	137392	broad.mit.edu	37	8	94740514	94740514	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:94740514T>C	ENST00000518322.1	+	9	1000	c.859T>C	c.(859-861)Ttt>Ctt	p.F287L	FAM92A1_ENST00000517718.1_Missense_Mutation_p.F132L|FAM92A1_ENST00000423990.2_Missense_Mutation_p.F249L|FAM92A1_ENST00000520363.1_3'UTR	NM_145269.3	NP_660312.2	A1XBS5	F92A1_HUMAN	family with sequence similarity 92, member A1	287										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGAAGAAAATTTTCTTAAGTA	0.328000													28	9					0	0	1	0	0
DDX21	9188	broad.mit.edu	37	10	70733307	70733307	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:70733307G>C	ENST00000354185.4	+	10	1653	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	519	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATAGGATGTAGAGTCCTACAT	0.443000													35	22					0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175087808	175087808	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:175087808C>G	ENST00000239462.4	+	11	2611	c.2498C>G	c.(2497-2499)tCt>tGt	p.S833C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	833	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CACTACACGTCTGCCAACGGA	0.612000													125	42					0	0	1	0	0
ELN	2006	broad.mit.edu	37	7	73474260	73474260	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:73474260C>T	ENST00000252034.7	+	23	1858	c.1459C>T	c.(1459-1461)Cct>Tct	p.P487S	ELN_ENST00000357036.5_Missense_Mutation_p.P492S|ELN_ENST00000380562.4_Missense_Mutation_p.P493S|ELN_ENST00000380576.5_Missense_Mutation_p.P468S|ELN_ENST00000380584.4_Missense_Mutation_p.P454S|ELN_ENST00000429192.1_Missense_Mutation_p.P473S|ELN_ENST00000380553.4_Missense_Mutation_p.P351S|ELN_ENST00000320492.7_Missense_Mutation_p.P406S|ELN_ENST00000320399.6_Missense_Mutation_p.P487S|ELN_ENST00000458204.1_Missense_Mutation_p.P477S|ELN_ENST00000380575.4_Missense_Mutation_p.P458S|ELN_ENST00000414324.1_Missense_Mutation_p.P463S|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000445912.1_Missense_Mutation_p.P487S|ELN_ENST00000358929.4_Missense_Mutation_p.P522S	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	516	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGCGTGGCTCCTGGTGTCGG	0.592000			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""						130	179					0	0	1	0	0
PARD3	56288	broad.mit.edu	37	10	34805961	34805961	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:34805961G>A	ENST00000374789.3	-	3	674	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	PARD3_ENST00000346874.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000350537.4_Nonsense_Mutation_p.Q117*|PARD3_ENST00000340077.5_Nonsense_Mutation_p.Q117*|PARD3_ENST00000545260.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374776.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374794.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374788.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000545693.1_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374790.3_Nonsense_Mutation_p.Q117*|PARD3_ENST00000374773.1_Nonsense_Mutation_p.Q117*	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	117					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGGTAAGGCTGAAAGGCTGAG	0.473000													46	78					0	0	1	0	0
NOL6	65083	broad.mit.edu	37	9	33466615	33466615	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:33466615C>T	ENST00000379471.2	-	16	2130	c.2043G>A	c.(2041-2043)ctG>ctA	p.L681L	NOL6_ENST00000455041.2_Silent_p.L629L|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	681					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding	p.L681L(1)		endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CAGACACGGTCAGTGGGAGAC	0.622000											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	94	71					0	0	1	0	0
RCVRN	5957	broad.mit.edu	37	17	9808390	9808390	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:9808390C>A	ENST00000226193.5	-	1	548	c.108G>T	c.(106-108)ctG>ctT	p.L36L		NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	36	EF-hand 1.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GACAGTCCTTCAGGAAGGACT	0.602000													3	11					0.115264	0.115441	1	1	0
IKBKAP	8518	broad.mit.edu	37	9	111659293	111659293	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:111659293G>T	ENST00000374647.5	-	24	2834	c.2527C>A	c.(2527-2529)Cat>Aat	p.H843N	IKBKAP_ENST00000537196.1_Missense_Mutation_p.H494N	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	843					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TTCTTTACATGAGATGTAAGT	0.433000													17	76					3.8784e-16	4.14457e-16	1	1	0
DNAH11	8701	broad.mit.edu	37	7	21840770	21840770	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:21840770C>T	ENST00000328843.6	+	63	10094	c.10063C>T	c.(10063-10065)Ctg>Ttg	p.L3355L	DNAH11_ENST00000409508.3_Silent_p.L3348L			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3355	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGATCGAAATCTGAGCAGACT	0.373000									Kartagener syndrome				3	10					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													5	86					0	0	1	0	0
RALGPS1	9649	broad.mit.edu	37	9	129728131	129728131	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129728131C>A	ENST00000259351.5	+	3	333	c.66C>A	c.(64-66)agC>agA	p.S22R	RALGPS1_ENST00000424082.2_Missense_Mutation_p.S22R|RALGPS1_ENST00000394011.3_Missense_Mutation_p.S22R|RALGPS1_ENST00000480993.1_3'UTR|RALGPS1_ENST00000373436.1_Missense_Mutation_p.S22R|RALGPS1_ENST00000373434.1_Missense_Mutation_p.S22R|RALGPS1_ENST00000394022.3_Missense_Mutation_p.S22R	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	22	Poly-Ser.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGGCAGCAGCAGCTCGGACT	0.542000													19	77					0.000375601	0.000383218	1	1	0
CADM3	57863	broad.mit.edu	37	1	159161862	159161862	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:159161862G>A	ENST00000368125.4	+	2	382	c.225G>A	c.(223-225)aaG>aaA	p.K75K	CADM3_ENST00000368124.4_Silent_p.K109K	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	75	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TTGGGGAGAAGAGAGGTAGTA	0.527000													55	36					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155234440	155234440	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155234440G>A	ENST00000368361.4	-	9	1374	c.1059C>T	c.(1057-1059)atC>atT	p.I353I	CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000355560.4_Silent_p.I351I|CLK2_ENST00000536801.1_Silent_p.I353I|CLK2_ENST00000361168.5_Silent_p.I352I			P49760	CLK2_HUMAN	CDC-like kinase 2	353	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTTACCAAGGATGACTTCTG	0.552000								Other conserved DNA damage response genes					37	156					0	0	1	0	0
FMO4	2329	broad.mit.edu	37	1	171293376	171293376	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171293376G>C	ENST00000367749.3	+	5	751	c.421G>C	c.(421-423)Gat>Cat	p.D141H	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	141					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGCTGTCTTTGATGCTGTTAT	0.478000													260	469					0	0	1	0	0
NT5C3A	51251	broad.mit.edu	37	7	33066465	33066465	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:33066465G>A	ENST00000396152.2	-	3	401	c.99C>T	c.(97-99)atC>atT	p.I33I	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000242210.7_Silent_p.I72I|NT5C3A_ENST00000409467.1_Silent_p.I21I|NT5C3A_ENST00000409787.1_Silent_p.I33I|NT5C3A_ENST00000405342.1_Silent_p.I33I|NT5C3A_ENST00000610140.1_Silent_p.I67I|NT5C3A_ENST00000381626.2_Silent_p.I21I	NM_016489.12	NP_057573.2			5'-nucleotidase, cytosolic IIIA																		TAAGACCACAGATAATTTCTT	0.368000													13	63					0	0	1	0	0
SDC1	6382	broad.mit.edu	37	2	20405149	20405149	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:20405149C>T	ENST00000381150.1	-	3	493	c.103G>A	c.(103-105)Gat>Aat	p.D35N	SDC1_ENST00000254351.4_Missense_Mutation_p.D35N|SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.D35N	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	35					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CCAGAGCCATCTTGATCTTCA	0.557000													50	114					0	0	1	0	0
SMYD4	114826	broad.mit.edu	37	17	1690794	1690794	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:1690794C>G	ENST00000305513.7	-	6	1809	c.1642G>C	c.(1642-1644)Gtg>Ctg	p.V548L		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	548	SET.						zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						ATGAAGGACACGCTGGTGTTG	0.577000													3	18					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54858547	54858547	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:54858547G>A	ENST00000333896.5	+	15	3709	c.3324G>A	c.(3322-3324)atG>atA	p.M1108I	SPTBN1_ENST00000356805.4_Missense_Mutation_p.M1121I	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1121					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCAGAAGATGAGGGACATGG	0.587000													75	130					0	0	1	0	0
AFAP1	60312	broad.mit.edu	37	4	7840265	7840265	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:7840265C>A	ENST00000420658.1	-	6	984	c.712G>T	c.(712-714)Gag>Tag	p.E238*	AFAP1_ENST00000360265.4_Nonsense_Mutation_p.E238*|AFAP1_ENST00000382543.3_Nonsense_Mutation_p.E238*|AFAP1_ENST00000358461.2_Nonsense_Mutation_p.E238*	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	238	PH 1.			E -> G (in Ref. 1; AAG17055).		actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGCCACTGCTCGGCCTGTTCC	0.453000													4	97					1	1	1	1	0
SLC1A4	6509	broad.mit.edu	37	2	65217170	65217170	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:65217170C>T	ENST00000234256.3	+	1	636	c.393C>T	c.(391-393)ctC>ctT	p.L131L	SLC1A4_ENST00000531327.1_Intron|SLC1A4_ENST00000493121.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	131					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCTCGGCGCTCGCCGTGGCCT	0.687000													21	3					0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	216465553	216465553	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:216465553C>G	ENST00000366943.2	-	10	2190	c.1804G>C	c.(1804-1806)Gga>Cga	p.G602R	USH2A_ENST00000307340.3_Missense_Mutation_p.G602R|USH2A_ENST00000366942.3_Missense_Mutation_p.G602R			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	602	Laminin EGF-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAAACTCCTCCTCCCCCTCTG	0.423000										HNSCC(13;0.011)			35	173					0	0	1	0	0
LIMK2	3985	broad.mit.edu	37	22	31673068	31673068	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:31673068C>G	ENST00000340552.4	+	15	2233	c.2003C>G	c.(2002-2004)tCt>tGt	p.S668C	LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000406516.1_Missense_Mutation_p.S611C|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Intron	NM_001031801.1	NP_001026971.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	0						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						GCCTTCATCTCTGGCCTGCTG	0.592000													24	84					0	0	1	0	0
DZIP1	22873	broad.mit.edu	37	13	96238358	96238358	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:96238358C>T	ENST00000347108.3	-	19	2683	c.2251G>A	c.(2251-2253)Gaa>Aaa	p.E751K	DZIP1_ENST00000361156.3_Missense_Mutation_p.E732K|DZIP1_ENST00000376829.2_Missense_Mutation_p.E751K|DZIP1_ENST00000361396.2_Missense_Mutation_p.E732K			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	751					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			AACATCTTTTCAACTTTTTCA	0.308000													10	26					0	0	1	0	0
MPP6	51678	broad.mit.edu	37	7	24681456	24681456	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:24681456T>G	ENST00000222644.5	+	3	489	c.239T>G	c.(238-240)tTg>tGg	p.L80W	MPP6_ENST00000409761.1_5'UTR|MPP6_ENST00000396475.2_Missense_Mutation_p.L80W			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		L27 2.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						GTGGCAGAATTGGTTGGTATA	0.378000													11	113					0	0	1	0	0
SHC2	25759	broad.mit.edu	37	19	418997	418997	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:418997C>G	ENST00000264554.6	-	12	1679	c.1680G>C	c.(1678-1680)caG>caC	p.Q560H		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	560	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGCCCGTTCTGCAGGTGGT	0.677000													6	7					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56505039	56505039	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:56505039G>T	ENST00000370754.5	-	17	2292	c.2293C>A	c.(2293-2295)Ccc>Acc	p.P765T	DST_ENST00000446842.2_Missense_Mutation_p.P261T|DST_ENST00000312431.6_Missense_Mutation_p.P587T|DST_ENST00000370765.6_Missense_Mutation_p.P261T|DST_ENST00000370788.2_Missense_Mutation_p.P587T|DST_ENST00000370769.4_Missense_Mutation_p.P587T|DST_ENST00000361203.3_Missense_Mutation_p.P587T|DST_ENST00000421834.2_Missense_Mutation_p.P587T|DST_ENST00000244364.6_Missense_Mutation_p.P261T|DST_ENST00000518935.1_Missense_Mutation_p.P261T			Q03001	DYST_HUMAN	dystonin	587					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTAGAAGGGGTTTTCGGATC	0.368000													7	35					8.12818e-05	8.30599e-05	1	1	0
PRMT7	54496	broad.mit.edu	37	16	68389659	68389659	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:68389659G>C	ENST00000339507.5	+	17	2514	c.1684G>C	c.(1684-1686)Gag>Cag	p.E562Q	PRMT7_ENST00000449359.3_Missense_Mutation_p.E512Q|PRMT7_ENST00000348497.4_Missense_Mutation_p.E414Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.E512Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	562					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CAGGGAAGCTGAGCCCCACCC	0.677000													10	8					0	0	1	0	0
CCDC135	84229	broad.mit.edu	37	16	57731954	57731954	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:57731954G>A	ENST00000360716.3	+	3	314	c.93G>A	c.(91-93)atG>atA	p.M31I	CCDC135_ENST00000394337.4_Missense_Mutation_p.M31I|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000336825.8_Missense_Mutation_p.M31I			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	31						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						TGGAGAAAATGATGAGGCCAG	0.582000													10	13					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90661329	90661329	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:90661329C>T	ENST00000257749.4	-	7	1203	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	BACH2_ENST00000343122.3_Missense_Mutation_p.E166K|RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.E166K	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	166	Poly-Glu.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TCCTCCTCTTCATCCTCCTCC	0.612000													57	41					0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57188413	57188413	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:57188413C>A	ENST00000331162.4	-	5	979	c.709G>T	c.(709-711)Gga>Tga	p.G237*		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	237					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGTTTCTCTCCAGTATGAATT	0.393000													5	35					0.0381472	0.038323	1	1	0
GPI	2821	broad.mit.edu	37	19	34884965	34884965	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:34884965C>T	ENST00000415930.3	+	12	1259	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	GPI_ENST00000356487.5_Silent_p.F352F|GPI_ENST00000586425.1_Silent_p.F352F	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	352					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CTGCGTACTTCCAGCAGGTAC	0.577000													42	50					0	0	1	0	0
EEF1G	1937	broad.mit.edu	37	11	62327634	62327634	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62327634C>G	ENST00000378019.3	-	9	1302	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	EEF1G_ENST00000329251.4_Missense_Mutation_p.K354N|MIR3654_ENST00000496634.2_3'UTR			P26641	EF1G_HUMAN	eukaryotic translation elongation factor 1 gamma	354	EF-1-gamma C-terminal.				response to virus	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGAAGGCATTCTTCCTCAGCT	0.517000													45	19					0	0	1	0	0
KRT18	3875	broad.mit.edu	37	12	53345344	53345344	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:53345344C>A	ENST00000550600.1	+	5	791	c.737C>A	c.(736-738)gCc>gAc	p.A246D	KRT18_ENST00000388835.3_Missense_Mutation_p.A246D|KRT18_ENST00000388837.2_Missense_Mutation_p.A246D			P05783	K1C18_HUMAN	keratin 18	246	Interaction with DNAJB6.|Linker 12.|Necessary for interaction with PNN.|Rod.			A -> S (in Ref. 8; CAA31369).	anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						CAGGACCTCGCCAAGATCATG	0.562000													12	30					7.93312e-07	8.15764e-07	1	1	0
TM4SF4	7104	broad.mit.edu	37	3	149220466	149220466	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:149220466G>C	ENST00000305354.4	+	5	1499	c.595G>C	c.(595-597)Gat>Cat	p.D199H		NM_004617.3	NP_004608.1	P48230	T4S4_HUMAN	transmembrane 4 L six family member 4	199						integral to membrane				large_intestine(3)|lung(4)|ovary(1)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			CTTCTAGGGAGATGGACCCGT	0.403000													63	42					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69370435	69370435	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69370435C>T	ENST00000306875.4	-	2	672	c.558G>A	c.(556-558)agG>agA	p.R186R	RP11-343C2.9_ENST00000563634.1_Silent_p.R61R|RP11-343C2.7_ENST00000564737.1_3'UTR|COG8_ENST00000562081.1_Silent_p.R186R	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	186					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						AAGAGTATTTCCTCTCCAGTC	0.488000													9	36					0	0	1	0	0
METTL7A	25840	broad.mit.edu	37	12	51319290	51319290	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51319290C>T	ENST00000548553.1	+	2	1450	c.469C>T	c.(469-471)Ctc>Ttc	p.L157F	METTL7A_ENST00000332160.4_Missense_Mutation_p.L157F			Q9H8H3	MET7A_HUMAN	methyltransferase like 7A	157						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	p.L157F(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						GGAGCGGATTCTCCGCGAGGT	0.562000													18	36					0	0	1	0	0
CCDC80	151887	broad.mit.edu	37	3	112358139	112358139	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:112358139C>T	ENST00000206423.3	-	2	1567	c.614G>A	c.(613-615)aGc>aAc	p.S205N	CCDC80_ENST00000439685.2_Missense_Mutation_p.S205N	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	205								p.S205N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						CTGGCCCTCGCTGGTGATCCT	0.577000													59	61					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607244	21607244	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21607244C>T	ENST00000392288.2	+	4	1892	c.1783C>T	c.(1783-1785)Cat>Tat	p.H595Y	ZNF493_ENST00000355504.4_Missense_Mutation_p.H467Y|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	467					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CAAGATAATTCATACTGATAA	0.333000													7	1					0	0	1	0	0
PER1	5187	broad.mit.edu	37	17	8045717	8045717	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:8045717C>T	ENST00000317276.4	-	21	3556	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	PER1_ENST00000581082.1_Missense_Mutation_p.E1084K	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1107					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						gccccagcctcagcctcggAA	0.622000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes					30	1					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161789498	161789498	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:161789498G>C	ENST00000367942.3	+	8	1052	c.985G>C	c.(985-987)Gaa>Caa	p.E329Q		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	329					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GAAGAAGAAAGAATATATGCT	0.413000													7	93					0	0	1	0	0
COL5A2	1290	broad.mit.edu	37	2	189931201	189931201	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:189931201G>A	ENST00000374866.3	-	23	1752	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	493					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TGGGCCTATCGGACCCTGAAT	0.478000													51	136					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89424091	89424091	+	RNA	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:89424091C>A	ENST00000532352.1	+	0	1554							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						ATCACAGTGTCTATGAAACAT	0.373000													5	44					0.00307968	0.00311782	1	1	0
CHD6	84181	broad.mit.edu	37	20	40127937	40127937	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:40127937C>T	ENST00000373233.3	-	6	1090	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CHD6_ENST00000309279.7_Missense_Mutation_p.E305K|CHD6_ENST00000373222.3_Missense_Mutation_p.E340K	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	305	Chromo 1.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCACCAACCTCCTGGACAGTC	0.403000													13	5					0	0	1	0	0
IRF2BPL	64207	broad.mit.edu	37	14	77492329	77492329	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:77492329G>A	ENST00000238647.3	-	1	2705	c.1807C>T	c.(1807-1809)Ctg>Ttg	p.L603L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	603	Pro-rich.					nucleus				endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						TGGGGTCCCAGAGGTgggggc	0.716000													3	4					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38633219	38633219	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:38633219C>T	ENST00000222345.6	+	12	3911	c.3402C>T	c.(3400-3402)gtC>gtT	p.V1134V		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1134					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CTAGGCCTGTCAGCTTCCCAG	0.617000											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	337	316					0	0	1	0	0
WDR55	54853	broad.mit.edu	37	5	140048746	140048746	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140048746G>A	ENST00000358337.5	+	6	980	c.743G>A	c.(742-744)cGc>cAc	p.R248H	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	248					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGTGACCGCTTTGCCCTG	0.532000													8	72					0	0	1	0	0
CARS2	79587	broad.mit.edu	37	13	111340160	111340160	+	Missense_Mutation	SNP	G	G	A	rs143602497		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:111340160G>A	ENST00000257347.4	-	5	542	c.479C>T	c.(478-480)aCg>aTg	p.T160M	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	160					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	CAGGTACACCGTGGGTGGGAG	0.507000													47	131					0	0	1	0	0
CDK3	1018	broad.mit.edu	37	17	73998377	73998377	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:73998377C>T	ENST00000425876.2	+	4	452	c.364C>T	c.(364-366)Cgg>Tgg	p.R122W	TEN1-CDK3_ENST00000567351.1_RNA|CDK3_ENST00000448471.1_Missense_Mutation_p.R122W			Q00526	CDK3_HUMAN	cyclin-dependent kinase 3	122	Protein kinase.				cell division|cell proliferation|mitosis		ATP binding|cyclin-dependent protein kinase activity			central_nervous_system(1)	1						CCACTCACATCGGGTCATCCA	0.627000													77	82					0	0	1	0	0
ATP6V1C1	528	broad.mit.edu	37	8	104064968	104064968	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:104064968C>G	ENST00000395862.3	+	6	550	c.391C>G	c.(391-393)Cag>Gag	p.Q131E	ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.Q131E|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.Q56E|ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.Q56E	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	131					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			GGGAGTAACTCAGATTGATAA	0.318000													9	74					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127107	45127107	+	RNA	SNP	C	C	G	rs147409399	by1000genomes	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:45127107C>G	ENST00000575173.1	-	0	418																											CCTTCGTTCACCCAAGAGCAT	0.592000													4	138					0	0	1	0	0
TBL1XR1	79718	broad.mit.edu	37	3	176755921	176755921	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:176755921G>C	ENST00000430069.1	-	12	1346	c.1087C>G	c.(1087-1089)Ctc>Gtc	p.L363V	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.L363V			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	363					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GAGGCCAAGAGATTGCCAGTT	0.383000													21	23					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31591626	31591626	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:31591626C>T	ENST00000376033.2	+	3	464	c.230C>T	c.(229-231)tCa>tTa	p.S77L	PRRC2A_ENST00000376007.4_Missense_Mutation_p.S77L|PRRC2A_ENST00000469577.1_Intron	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	77	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCCAATGTCTCACTAGTGCCA	0.547000													19	89					0	0	1	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144871718	144871718	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144871718C>A	ENST00000369359.4	-	35	5690	c.5652G>T	c.(5650-5652)atG>atT	p.M1884I	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.M1833I|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.M1748I|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.M1748I|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1748					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GCTTCTGCAGCATCTGTAGCT	0.582000			T	PDGFRB	MPD								10	184					0.00229938	0.00233146	1	1	0
ADAMTS16	170690	broad.mit.edu	37	5	5239991	5239991	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:5239991G>A	ENST00000274181.7	+	16	2614	c.2476G>A	c.(2476-2478)Gag>Aag	p.E826K		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	826	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAATGAGCCCGAGAACTTAAT	0.517000													27	118					0	0	1	0	0
NDUFV3	4731	broad.mit.edu	37	21	44323929	44323929	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:44323929G>C	ENST00000354250.2	+	3	876	c.807G>C	c.(805-807)caG>caC	p.Q269H	NDUFV3_ENST00000340344.4_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	39					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AACAATTGCAGAAAACATTTA	0.383000													36	73					0	0	1	0	0
EFHB	151651	broad.mit.edu	37	3	19975088	19975088	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:19975088C>A	ENST00000295824.9	-	1	584	c.423G>T	c.(421-423)ggG>ggT	p.G141G	EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	141					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CTCTCCTGCTCCCTGCAGCCT	0.493000													21	82					4.26978e-12	4.49667e-12	1	1	0
HOXD13	3239	broad.mit.edu	37	2	176958267	176958267	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:176958267G>A	ENST00000392539.3	+	1	649	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_000523.3	NP_000514.2	P35453	HXD13_HUMAN	homeobox D13	217					skeletal system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0526)|READ - Rectum adenocarcinoma(9;0.0678)		CGGCTCCGGGGAGCCTCGGCA	0.617000			T	NUP98	AML*								67	12					0	0	1	0	0
CSTF2	1478	broad.mit.edu	37	X	100088252	100088252	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:100088252G>A	ENST00000415585.2	+	12	1373	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K	CSTF2_ENST00000372972.2_Missense_Mutation_p.E431K			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	431	12 X 5 AA tandem repeats of M-E-A-R-[AG].				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CAGAGGATTAGAGGCCCGTGC	0.587000													14	3					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152193146	152193146	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:152193146G>C	ENST00000368801.2	-	3	1034	c.959C>G	c.(958-960)tCc>tGc	p.S320C	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	320					keratinization		calcium ion binding|protein binding	p.S320Y(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTGGCTGGAGGAGTGCCC	0.607000													27	119					0	0	1	0	0
KCNT1	57582	broad.mit.edu	37	9	138606490	138606490	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:138606490G>A	ENST00000298480.5	+	2	252	c.178G>A	c.(178-180)Gag>Aag	p.E60K	KCNT1_ENST00000486577.2_Missense_Mutation_p.E7K|KCNT1_ENST00000487664.1_Intron|KCNT1_ENST00000371757.2_Missense_Mutation_p.E60K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	60						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTGGACTCCGAGGTGCTGCC	0.751000													19	39					0	0	1	0	0
ASXL2	55252	broad.mit.edu	37	2	25990551	25990551	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:25990551G>A	ENST00000435504.4	-	8	969	c.676C>T	c.(676-678)Caa>Taa	p.Q226*	ASXL2_ENST00000404843.1_5'UTR|ASXL2_ENST00000272341.4_5'UTR|ASXL2_ENST00000336112.4_Nonsense_Mutation_p.Q198*			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	226	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGAGTTTTGAGGGCTGCCT	0.418000													77	12					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796294	42796294	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:42796294G>C	ENST00000572681.2	+	13	5738	c.5670G>C	c.(5668-5670)ctG>ctC	p.L1890L	CIC_ENST00000160740.3_Silent_p.L981L|CIC_ENST00000575354.2_Silent_p.L981L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	981					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCGCCCCTGAGCCCAGCCA	0.652000			"""Mis, F, S"""		oligodendroglioma								80	64					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74689799	74689799	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74689799C>G	ENST00000233616.4	-	4	1279	c.1117G>C	c.(1117-1119)Gag>Cag	p.E373Q	MOGS_ENST00000452063.2_Missense_Mutation_p.E267Q|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	373					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						AAGGTCTTCTCAAAGCGCTCT	0.587000													33	108					0	0	1	0	0
ARSI	340075	broad.mit.edu	37	5	149676860	149676860	+	Missense_Mutation	SNP	G	G	A	rs142267983		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:149676860G>A	ENST00000328668.7	-	2	2206	c.1627C>T	c.(1627-1629)Cgt>Tgt	p.R543C		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	543						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTTGCGACGACCCCGGGAG	0.547000													42	96					0	0	1	0	0
AOX1	316	broad.mit.edu	37	2	201469496	201469496	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:201469496G>T	ENST00000374700.2	+	9	988	c.747G>T	c.(745-747)ctG>ctT	p.L249L		NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	249	FAD-binding PCMH-type.				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCGTGACCCTGAAGGAACTGC	0.448000													85	41					3.27315e-48	3.61594e-48	1	1	0
ARID4B	51742	broad.mit.edu	37	1	235383646	235383646	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:235383646C>T	ENST00000264183.3	-	15	1875	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	ARID4B_ENST00000349213.3_Missense_Mutation_p.E460K|ARID4B_ENST00000366603.2_Missense_Mutation_p.E460K	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	460	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTTTTCTTTCAATTTCATCC	0.308000													8	31					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141625324	141625324	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:141625324G>C	ENST00000389484.3	-	27	5385	c.4414C>G	c.(4414-4416)Ccc>Gcc	p.P1472A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1472					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACAGCAAAGGGATGGGAAAGG	0.428000										TSP Lung(27;0.18)			4	78					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71391400	71391400	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:71391400G>A	ENST00000392650.3	-	25	3486	c.3486C>T	c.(3484-3486)atC>atT	p.I1162I	SDK2_ENST00000388726.3_Silent_p.I1162I	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1162	Fibronectin type-III 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCAGGTCCTCGATGGTGTAGT	0.652000													11	59					0	0	1	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325699	99325699	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:99325699G>C	ENST00000408927.3	+	7	822	c.709G>C	c.(709-711)Gaa>Caa	p.E237Q	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.E146Q|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.E238Q|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.E188Q|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.E238Q|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.E189Q	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	237							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		GAAACAAATAGAACATGATAA	0.318000			T	NUP98	T-ALL								9	25					0	0	1	0	0
RAB40C	57799	broad.mit.edu	37	16	677451	677451	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:677451C>T	ENST00000535977.1	+	7	897	c.675C>T	c.(673-675)ttC>ttT	p.F225F	RAB40C_ENST00000248139.3_Silent_p.F225F|RAB40C_ENST00000538492.1_Silent_p.F225F|RAB40C_ENST00000539661.1_Silent_p.F225F	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	225	SOCS box.				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				TCAAGTCCTTCTCGATGGCCA	0.652000													54	172					0	0	1	0	0
LRRIQ4	344657	broad.mit.edu	37	3	169539844	169539844	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:169539844C>T	ENST00000340806.6	+	1	135	c.135C>T	c.(133-135)ttC>ttT	p.F45F		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	45										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGGAGATCTTCACATTCACAG	0.398000													15	60					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69373450	69373450	+	Silent	SNP	C	C	T	rs142062440		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69373450C>T	ENST00000306875.4	-	1	120	c.6G>A	c.(4-6)gcG>gcA	p.A2A	RP11-343C2.9_ENST00000563634.1_Intron|NIP7_ENST00000254940.5_5'UTR|RP11-343C2.7_ENST00000564737.1_Intron|COG8_ENST00000562081.1_Silent_p.A2A	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	2					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TCGCCGCGGTCGCCATCTTCC	0.622000											OREG0023907	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	25					0	0	1	0	0
ZNF766	90321	broad.mit.edu	37	19	52785369	52785369	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:52785369C>T	ENST00000439461.1	+	2	67	c.24C>T	c.(22-24)caC>caT	p.H8H	ZNF766_ENST00000359102.4_Silent_p.H23H|ZNF766_ENST00000593612.1_Silent_p.H23H|ZNF766_ENST00000599581.1_Silent_p.H8H|ZNF766_ENST00000600821.1_Silent_p.H3H	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TTTAGGGACACTTGACATTCA	0.438000													147	163					0	0	1	0	0
PURA	5813	broad.mit.edu	37	5	139494256	139494256	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:139494256C>T	ENST00000331327.3	+	1	549	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	164					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACCAGCGCGGCCGCTT	0.692000													11	30					0	0	1	0	0
N4BP2	55728	broad.mit.edu	37	4	40104488	40104488	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:40104488G>A	ENST00000261435.6	+	4	1439	c.1023G>A	c.(1021-1023)gtG>gtA	p.V341V		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	341	Pro-rich.					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GGAAGGATGTGAGTTACTGCC	0.502000													21	37					0	0	1	0	0
CNN2	1265	broad.mit.edu	37	19	1037770	1037770	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:1037770G>C	ENST00000263097.4	+	7	1164	c.801G>C	c.(799-801)caG>caC	p.Q267H	CNN2_ENST00000348419.3_Missense_Mutation_p.Q228H|CNN2_ENST00000565096.2_Missense_Mutation_p.Q256H|CNN2_ENST00000562958.2_Missense_Mutation_p.Q288H|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	267					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCGGCAGATATATGACC	0.662000													41	69					0	0	1	0	0
TMEM40	55287	broad.mit.edu	37	3	12783978	12783978	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:12783978C>G	ENST00000314124.7	-	5	686	c.330G>C	c.(328-330)ttG>ttC	p.L110F	TMEM40_ENST00000435218.2_Missense_Mutation_p.L80F|TMEM40_ENST00000435575.1_Missense_Mutation_p.L34F|TMEM40_ENST00000431022.2_Missense_Mutation_p.L126F|TMEM40_ENST00000264728.8_Missense_Mutation_p.L110F	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	110						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						GCTCATCCTTCAAAACGTCAG	0.517000													74	98					0	0	1	0	0
HOXC9	3225	broad.mit.edu	37	12	54394234	54394234	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:54394234G>A	ENST00000303450.4	+	1	332	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	HOXC9_ENST00000504557.1_Intron|HOXC9_ENST00000508190.1_Missense_Mutation_p.A88T|RP11-834C11.12_ENST00000513209.1_Intron	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	88					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCACCTCGGCGCCGACACGCG	0.711000													33	19					0	0	1	0	0
ANKS4B	257629	broad.mit.edu	37	16	21262055	21262055	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:21262055G>T	ENST00000311620.5	+	2	1241	c.1168G>T	c.(1168-1170)Ggt>Tgt	p.G390C		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	390	SAM.									NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		AATGCAGCTGGGTCCCAGGAA	0.512000													13	199					0.0135373	0.0136416	1	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144882662	144882662	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:144882662G>C	ENST00000369359.4	-	27	3806	c.3768C>G	c.(3766-3768)ctC>ctG	p.L1256L	PDE4DIP_ENST00000530740.1_Silent_p.L1256L|PDE4DIP_ENST00000369354.3_Silent_p.L1119L|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Silent_p.L1119L|PDE4DIP_ENST00000313382.9_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1119					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTTGTTCTTTGAGGAGGTTGA	0.453000			T	PDGFRB	MPD								24	186					0	0	1	0	0
MRPS25	64432	broad.mit.edu	37	3	15094945	15094945	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:15094945C>G	ENST00000253686.2	-	3	411	c.271G>C	c.(271-273)Gag>Cag	p.E91Q	MRPS25_ENST00000449354.2_Missense_Mutation_p.E91Q|MRPS25_ENST00000444840.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	91					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						CTCTTGGTCTCCACATCCACC	0.473000													17	58					0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2934376	2934376	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:2934376G>A	ENST00000329687.4	-	4	1016	c.482C>T	c.(481-483)aCg>aTg	p.T161M	MFSD10_ENST00000507555.1_Missense_Mutation_p.T161M|MFSD10_ENST00000355443.4_Missense_Mutation_p.T161M|MFSD10_ENST00000514800.1_Missense_Mutation_p.T161M|MFSD10_ENST00000508221.1_Missense_Mutation_p.T161M	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	161					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		AACGATGGCCGTGGAGAGGCT	0.637000													4	148					0	0	1	0	0
TXN2	25828	broad.mit.edu	37	22	36876824	36876824	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:36876824G>C	ENST00000216185.2	-	2	527	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	TXN2_ENST00000403313.1_Missense_Mutation_p.Q21E|TXN2_ENST00000416967.1_5'UTR|TXN2_ENST00000487725.1_Intron			Q99757	THIOM_HUMAN	thioredoxin 2	21					cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						CACTGACCCTGAGAGGGCTTC	0.577000													23	78					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144940345	144940345	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:144940345C>T	ENST00000525985.1	-	2	7148	c.7077G>A	c.(7075-7077)gtG>gtA	p.V2359V				P58107	EPIPL_HUMAN	epiplakin 1	2359						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGCCACGTCCACGGGCACGC	0.692000													50	873					0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152737832	152737832	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:152737832G>A	ENST00000367255.5	-	41	6341	c.5740C>T	c.(5740-5742)Caa>Taa	p.Q1914*	SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q1914*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q1921*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q1921*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q1951*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1914					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)		TTAGCATTTTGAAGAGCATCA	0.458000										HNSCC(10;0.0054)			9	21					0	0	1	0	0
CAND1	55832	broad.mit.edu	37	12	67700122	67700122	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:67700122C>G	ENST00000545606.1	+	10	3111	c.2674C>G	c.(2674-2676)Ctg>Gtg	p.L892V		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	892					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TCCTGAATATCTGCCGTTTGT	0.418000													15	113					0	0	1	0	0
ANKRD11	29123	broad.mit.edu	37	16	89352493	89352493	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:89352493G>A	ENST00000301030.4	-	8	1306	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ANKRD11_ENST00000378330.2_Silent_p.L282L	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	282						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGCCTAACAGGAGGTTCACCA	0.587000													68	74					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91423349	91423349	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:91423349C>T	ENST00000268171.3	+	13	1681	c.1402C>T	c.(1402-1404)Cgg>Tgg	p.R468W		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	468					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)			GCTCGAGGTGCGGAAGACCGT	0.667000													10	40					0	0	1	0	0
H2BFWT	158983	broad.mit.edu	37	X	103267744	103267744	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:103267744G>C	ENST00000217926.5	-	1	515	c.489C>G	c.(487-489)ctC>ctG	p.L163L		NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	163					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						TGGTGTACCTGAGGACAGCCT	0.632000													34	7					0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129877885	129877885	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:129877885G>T	ENST00000254667.3	+	20	2233	c.1954G>T	c.(1954-1956)Gcc>Tcc	p.A652S	PTPRE_ENST00000419012.2_Missense_Mutation_p.A652S|PTPRE_ENST00000306042.5_Missense_Mutation_p.A594S	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	652	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.A652S(1)|p.A594S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCGAGTAAAAGCCGAGGGACT	0.458000													3	40					0.004672	0.00471526	1	1	0
SCYL3	57147	broad.mit.edu	37	1	169847945	169847945	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:169847945G>A	ENST00000367771.6	-	3	395	c.181C>T	c.(181-183)Cgt>Tgt	p.R61C	SCYL3_ENST00000367772.4_Missense_Mutation_p.R61C|SCYL3_ENST00000367770.1_Missense_Mutation_p.R61C|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	p.R61C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAAGGGTGACGAAGTGTCTTC	0.408000													113	41					0	0	1	0	0
GGNBP2	79893	broad.mit.edu	37	17	34937963	34937963	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:34937963G>A	ENST00000304718.4	+	9	1526	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	404					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGTAAGCCAAGAGAAGGTAAT	0.398000													22	35					0	0	1	0	0
ANK2	287	broad.mit.edu	37	4	114278820	114278820	+	Missense_Mutation	SNP	G	G	A	rs149963885	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:114278820G>A	ENST00000357077.4	+	38	9099	c.9046G>A	c.(9046-9048)Gag>Aag	p.E3016K	ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.E2983K|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2983					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTCATCTTTCGAGCCTACTAT	0.398000													42	76					0	0	1	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27825064	27825064	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:27825064G>C	ENST00000396319.2	+	7	896	c.808G>C	c.(808-810)Gaa>Caa	p.E270Q	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.E270Q|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.E270Q|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.E270Q|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.E113Q	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	270					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			AGAACAACTTGAATGTCAGTT	0.294000													45	62					0	0	1	0	0
NID2	22795	broad.mit.edu	37	14	52477650	52477650	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:52477650G>A	ENST00000216286.5	-	18	3665	c.3666C>T	c.(3664-3666)gtC>gtT	p.V1222V	NID2_ENST00000541773.1_Silent_p.V1121V	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1222						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGTAGAAGAGGACCTTGCGCT	0.532000													32	53					0	0	1	0	0
ITGB1BP2	26548	broad.mit.edu	37	X	70521663	70521663	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:70521663C>G	ENST00000373829.3	+	1	80	c.7C>G	c.(7-9)Cta>Gta	p.L3V	ITGB1BP2_ENST00000538820.1_5'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	3					muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TTCCATGTCTCTACTCTGTCG	0.507000													46	1					0	0	1	0	0
FOXRED2	80020	broad.mit.edu	37	22	36900716	36900716	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:36900716C>T	ENST00000397224.4	-	3	718	c.625G>A	c.(625-627)Gag>Aag	p.E209K	FOXRED2_ENST00000397223.4_Missense_Mutation_p.E209K|FOXRED2_ENST00000216187.6_Missense_Mutation_p.E209K	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	209					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACAAAGTCCTCAGGGTCCACG	0.527000													63	44					0	0	1	0	0
DDX47	51202	broad.mit.edu	37	12	12980212	12980212	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:12980212A>T	ENST00000358007.3	+	11	1161	c.1139A>T	c.(1138-1140)cAc>cTc	p.H380L	DDX47_ENST00000352940.4_Missense_Mutation_p.H331L	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	380	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		CGCATAGAACACTTAATTGGG	0.473000													35	111					0	0	1	0	0
XPO6	23214	broad.mit.edu	37	16	28145186	28145186	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:28145186C>T	ENST00000304658.5	-	11	2012	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	XPO6_ENST00000565698.1_Silent_p.L490L	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	504					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						CGTGCGTGGGCAGGAGCTCCA	0.587000													72	48					0	0	1	0	0
C1orf229	388759	broad.mit.edu	37	1	247275334	247275334	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:247275334C>T	ENST00000408893.2	-	1	385	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_207401.1	NP_997284.1	Q6ZS94	CA229_HUMAN	chromosome 1 open reading frame 229	65																	CGCGTCCTCTCGGCGGCCCGC	0.701000													4	4					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21606279	21606279	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21606279C>T	ENST00000392288.2	+	4	927	c.818C>T	c.(817-819)tCt>tTt	p.S273F	ZNF493_ENST00000355504.4_Missense_Mutation_p.S145F|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S273C(1)|p.S145C(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGGCACATCTTTCTACCAA	0.348000													16	3					0	0	1	0	0
COX8A	1351	broad.mit.edu	37	11	63742235	63742235	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:63742235C>G	ENST00000535431.1	+	1	144	c.83C>G	c.(82-84)tCg>tGg	p.S28W	COX8A_ENST00000314133.3_Missense_Mutation_p.S28W																							AAGATCCATTCGTTGCCGCCG	0.687000													12	20					0	0	1	0	0
TET3	200424	broad.mit.edu	37	2	74326619	74326619	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:74326619C>T	ENST00000409262.3	+	8	3079	c.3079C>T	c.(3079-3081)Cgg>Tgg	p.R1027W		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	1027							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTGCCGCCAGCGGCAGCTGGA	0.637000													19	15					0	0	1	0	0
RANBP9	10048	broad.mit.edu	37	6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761000													8	69					0.00448238	0.00453088	1	1	0
TRRAP	8295	broad.mit.edu	37	7	98534849	98534849	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:98534849G>A	ENST00000359863.4	+	29	4391	c.4182G>A	c.(4180-4182)ctG>ctA	p.L1394L	TRRAP_ENST00000355540.3_Silent_p.L1394L|TRRAP_ENST00000446306.3_Silent_p.L1393L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1394					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAAAGCCCTGAATTCCACCA	0.507000													49	203					0	0	1	0	0
OR6N2	81442	broad.mit.edu	37	1	158747168	158747168	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:158747168G>A	ENST00000339258.1	-	1	257	c.258C>T	c.(256-258)ctC>ctT	p.L86L		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCTTCTCACTGAGAATATTAG	0.453000													9	232					0	0	1	0	0
C10orf137	26098	broad.mit.edu	37	10	127413965	127413965	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:127413965G>C	ENST00000337623.3	+	5	694	c.589G>C	c.(589-591)Gag>Cag	p.E197Q	C10orf137_ENST00000356792.4_Missense_Mutation_p.E197Q	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AAAGAGCAAAGAGCACTGGTA	0.348000													8	21					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066295	31066295	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:31066295C>T	ENST00000399914.1	-	2	727	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.R69Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.R69Q|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.R69Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.R69Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.R69Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.R69Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	69					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CATCAGGGTTCGGTTTCTGTT	0.398000													26	71					0	0	1	0	0
MESDC2	23184	broad.mit.edu	37	15	81282044	81282044	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:81282044C>A	ENST00000261758.4	-	1	175	c.89G>T	c.(88-90)gGg>gTg	p.G30V		NM_015154.1	NP_055969.1	Q14696	MESD_HUMAN	mesoderm development candidate 2	30	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						CGCGCAGGACCCAGGCGGTGG	0.637000													21	44					3.5997e-14	3.82176e-14	1	1	0
CHRNA6	8973	broad.mit.edu	37	8	42611280	42611280	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:42611280C>T	ENST00000276410.2	-	5	1417	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L	CHRNA6_ENST00000534622.1_Silent_p.L339L	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	354						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCCACCTCATCAGCAGGACCT	0.587000													53	38					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55569091	55569091	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:55569091G>A	ENST00000395445.1	-	36	5113	c.4719C>T	c.(4717-4719)cgC>cgT	p.R1573R	PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395442.1_Silent_p.R438R|PCDH15_ENST00000395440.1_Silent_p.R507R|PCDH15_ENST00000395446.1_Silent_p.R769R|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_3'UTR	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTTCCTCAAGGCGTCTCTGCC	0.428000										HNSCC(58;0.16)			9	31					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155891202	155891202	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155891202C>T	ENST00000368319.3	-	10	1128	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N	KIAA0907_ENST00000368320.3_Silent_p.P410P|KIAA0907_ENST00000368321.3_Silent_p.P410P			Q7Z7F0	K0907_HUMAN	KIAA0907	0	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTGTGTTATCGGGTATTGTG	0.493000													23	100					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79437102	79437102	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:79437102G>A	ENST00000264895.6	+	66	10764	c.10324G>A	c.(10324-10326)Gat>Aat	p.D3442N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3437					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGGACCTTTGATGCTTATTA	0.557000													11	27					0	0	1	0	0
ZNF442	79973	broad.mit.edu	37	19	12474396	12474396	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:12474396G>C	ENST00000242804.4	-	3	632	c.50C>G	c.(49-51)tCt>tGt	p.S17C	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						ATTAGTCTGAGAGTCAGGAAG	0.488000													8	140					0	0	1	0	0
NRSN1	140767	broad.mit.edu	37	6	24145869	24145869	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:24145869G>A	ENST00000378491.4	+	4	584	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	95					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						AGCATTTGGCGAAGCCGATTT	0.507000													47	208					0	0	1	0	0
LRSAM1	90678	broad.mit.edu	37	9	130265177	130265177	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:130265177G>A	ENST00000323301.4	+	25	2775	c.2171G>A	c.(2170-2172)tGa>tAa	p.*724*	LRSAM1_ENST00000373324.4_Silent_p.*697*|LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000300417.6_Silent_p.*724*|LRSAM1_ENST00000373322.1_Silent_p.*724*	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	0					negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CACAGCAGCTGAGTGCTGCCC	0.697000													8	6					0	0	1	0	0
SLC7A6	9057	broad.mit.edu	37	16	68325477	68325477	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:68325477C>T	ENST00000566454.1	+	8	1204	c.935C>T	c.(934-936)aCg>aTg	p.T312M	SLC7A6_ENST00000219343.6_Missense_Mutation_p.T312M	NM_001076785.2	NP_001070253.1	Q92536	YLAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 6	312					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GCTGACCAGACGTTTGGCATG	0.502000													67	79					0	0	1	0	0
OR4D11	219986	broad.mit.edu	37	11	59271357	59271357	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:59271357C>T	ENST00000313253.1	+	1	309	c.309C>T	c.(307-309)ctC>ctT	p.L103L		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						AGATATTTCTCTTCCACCTCC	0.468000													109	59					0	0	1	0	0
IQUB	154865	broad.mit.edu	37	7	123092843	123092843	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:123092843G>C	ENST00000466202.1	-	13	2906	c.2330C>G	c.(2329-2331)tCa>tGa	p.S777*	IQUB_ENST00000324698.6_Nonsense_Mutation_p.S777*	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	777										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTTGTGTCTGAGTGATACTT	0.398000													18	19					0	0	1	0	0
RNF40	9810	broad.mit.edu	37	16	30776275	30776275	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:30776275C>G	ENST00000324685.6	+	6	1101	c.666C>G	c.(664-666)ctC>ctG	p.L222L	RNF40_ENST00000563683.1_Silent_p.L222L|RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Silent_p.L222L	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	222					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GTGAGCCCCTCAGTGAGGCGG	0.602000													16	81					0	0	1	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130275534	130275534	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:130275534G>A	ENST00000257359.6	-	9	3295	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	863	TSP type-1 2.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		AGGCCTGGCCGGAGGGGTCCC	0.672000													3	68					0	0	1	0	0
SLC16A2	6567	broad.mit.edu	37	X	73745728	73745728	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:73745728G>T	ENST00000276033.5	+	4	1558	c.1392G>T	c.(1390-1392)caG>caT	p.Q464H	SLC16A2_ENST00000587091.1_Splice_Site_p.Q390H			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	390						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TCTACTTGCAGGTGAGTGTGA	0.522000													20	23					1.50039e-11	1.57252e-11	1	1	0
HRNR	388697	broad.mit.edu	37	1	152191810	152191810	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:152191810G>A	ENST00000368801.2	-	3	2370	c.2295C>T	c.(2293-2295)caC>caT	p.H765H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	765					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGTCGGCCGTGGCCCGAAG	0.592000													32	167					0	0	1	0	0
GAK	2580	broad.mit.edu	37	4	844837	844837	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:844837C>G	ENST00000314167.4	-	26	3654	c.3544G>C	c.(3544-3546)Gat>Cat	p.D1182H	GAK_ENST00000511163.1_Missense_Mutation_p.D1103H|GAK_ENST00000509566.1_5'UTR	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1182					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GACAACAGATCTTCAAAGTCG	0.478000													19	49					0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53607956	53607956	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:53607956C>G	ENST00000425354.2	-	7	1187	c.700G>C	c.(700-702)Gct>Cct	p.A234P	RARG_ENST00000543726.1_Missense_Mutation_p.A212P|RARG_ENST00000338561.5_Missense_Mutation_p.A223P|RARG_ENST00000394426.1_Missense_Mutation_p.A234P|RARG_ENST00000543762.1_5'UTR|RARG_ENST00000327550.3_Missense_Mutation_p.A162P	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	234	Ligand-binding.				canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	CACTTGGTAGCCAGCTCACTG	0.567000													41	113					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36246416	36246416	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:36246416C>G	ENST00000396594.3	-	3	432	c.321G>C	c.(319-321)gtG>gtC	p.V107V	GNE_ENST00000539208.1_Silent_p.V17V|GNE_ENST00000377902.5_Silent_p.V76V|GNE_ENST00000543356.2_Silent_p.V71V|GNE_ENST00000447283.2_Silent_p.V76V|GNE_ENST00000539815.1_Silent_p.V76V	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	76					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CTTCTCCCCTCACAATTGTGT	0.438000													24	173					0	0	1	0	0
GALNT1	2589	broad.mit.edu	37	18	33243615	33243615	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:33243615C>T	ENST00000269195.5	+	2	266	c.163C>T	c.(163-165)Cat>Tat	p.H55Y	GALNT1_ENST00000537549.1_5'UTR|GALNT1_ENST00000591081.1_Missense_Mutation_p.H55Y	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	55					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ACAAAAGCCTCATGAAGGTCC	0.328000													12	13					0	0	1	0	0
CHRD	8646	broad.mit.edu	37	3	184099750	184099750	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:184099750C>G	ENST00000204604.1	+	6	887	c.641C>G	c.(640-642)tCa>tGa	p.S214*	CHRD_ENST00000348986.3_Nonsense_Mutation_p.S214*|CHRD_ENST00000482805.1_3'UTR|CHRD_ENST00000450923.1_Nonsense_Mutation_p.S214*|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	214	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCGCTTCTCAGACTCCAAT	0.607000													22	50					0	0	1	0	0
GPR101	83550	broad.mit.edu	37	X	136112978	136112978	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:136112978C>A	ENST00000298110.1	-	1	855	c.856G>T	c.(856-858)Gcc>Tcc	p.A286S		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	286						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CCTTCCTTGGCCTTCAGGCTG	0.612000													89	77					7.28744e-38	7.98322e-38	1	1	0
C1orf86	199990	broad.mit.edu	37	1	2125221	2125221	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:2125221C>T	ENST00000378545.3	-	4	635	c.636G>A	c.(634-636)ggG>ggA	p.G212G	C1orf86_ENST00000378546.4_Silent_p.G109G|C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR	NM_001282670.1	NP_001269599.1	Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	109										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ATTCCAGGTGCCCTCCTGCCC	0.701000													16	28					0	0	1	0	0
CDH5	1003	broad.mit.edu	37	16	66431938	66431938	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:66431938G>A	ENST00000341529.3	+	9	1562	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	CDH5_ENST00000539168.1_5'UTR	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	472	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGTTTTGGATGAGAATGACAA	0.542000													72	96					0	0	1	0	0
CNTN3	5067	broad.mit.edu	37	3	74344388	74344388	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:74344388C>G	ENST00000263665.6	-	18	2429		c.e18-1			NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)						cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		ACTGTAGGCTCTGTTCGGAAA	0.353000													37	23					0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70034888	70034888	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:70034888G>A	ENST00000370598.1	+	21	3760	c.2939G>A	c.(2938-2940)aGa>aAa	p.R980K	BAI3_ENST00000238918.8_Missense_Mutation_p.R186K	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	980					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CGGCTTATAAGAAAACGCTTT	0.398000													17	50					0	0	1	0	0
H2AFV	94239	broad.mit.edu	37	7	44880509	44880509	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:44880509G>A	ENST00000222690.6	-	3	289	c.184C>T	c.(184-186)Ctc>Ttc	p.L62F	H2AFV_ENST00000308153.4_Missense_Mutation_p.L62F|H2AFV_ENST00000521529.1_Missense_Mutation_p.L36F|H2AFV_ENST00000349299.3_Intron|H2AFV_ENST00000350771.3_Missense_Mutation_p.L36F|H2AFV_ENST00000437072.1_Intron|H2AFV_ENST00000381124.5_Missense_Mutation_p.L62F|H2AFV_ENST00000446531.1_Missense_Mutation_p.L62F	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	62					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						TCTGCAGTGAGGTACTCCAGA	0.502000													86	40					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103572771	103572771	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:103572771C>G	ENST00000285402.3	+	2	568	c.412C>G	c.(412-414)Caa>Gaa	p.Q138E	ODF1_ENST00000518835.1_5'UTR	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	138					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			TGAACCCGATCAAGTCAAAGT	0.448000													130	55					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64680977	64680977	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:64680977G>C	ENST00000357395.3	+	107	19421	c.8277G>C	c.(8275-8277)caG>caC	p.Q2759H	SYNE2_ENST00000555022.1_Missense_Mutation_p.Q252H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q6316H|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q3008H|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q6374H|SYNE2_ENST00000554805.1_Missense_Mutation_p.Q157H|SYNE2_ENST00000458046.2_Missense_Mutation_p.Q8H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q2759H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q6374H|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6374					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GAGAAATCCAGACTGATTCTT	0.512000													43	56					0	0	1	0	0
ENO2	2026	broad.mit.edu	37	12	7031509	7031509	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:7031509C>G	ENST00000535366.1	+	10	1805	c.1179C>G	c.(1177-1179)atC>atG	p.I393M	ENO2_ENST00000544774.1_Missense_Mutation_p.I350M|ENO2_ENST00000534977.1_3'UTR|ENO2_ENST00000545045.2_Missense_Mutation_p.I274M|ENO2_ENST00000538763.1_Missense_Mutation_p.I350M|ENO2_ENST00000541477.1_Missense_Mutation_p.I393M|ENO2_ENST00000229277.1_Missense_Mutation_p.I393M			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	393					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity	p.I393M(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TGTTTCAGATCAAGACTGGTG	0.547000													38	62					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578275	7578275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7578275G>A	ENST00000420246.2	-	6	706	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	TP53_ENST00000445888.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q192*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q192*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q192*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	192	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; 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.Q192*(83)|p.0?(8)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191del(4)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCC	0.557000		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)			87	8					0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37366873	37366873	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:37366873C>T	ENST00000233057.4	-	6	739	c.417G>A	c.(415-417)caG>caA	p.Q139Q	EIF2AK2_ENST00000395127.2_Silent_p.Q139Q|EIF2AK2_ENST00000405334.1_Silent_p.Q139Q	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	139	DRBM 2.				evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				TATATTCTTTCTGTCCCATTT	0.323000													8	41					0	0	1	0	0
UQCC1	55245	broad.mit.edu	37	20	33891825	33891825	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:33891825C>T	ENST00000374385.5	-	10	990	c.813G>A	c.(811-813)ggG>ggA	p.G271G	UQCC1_ENST00000407996.2_Silent_p.G134G|UQCC1_ENST00000349714.5_Silent_p.G244G|UQCC1_ENST00000374384.2_Silent_p.G245G|UQCC1_ENST00000374377.5_Silent_p.G159G|UQCC1_ENST00000540457.1_Silent_p.G116G|UQCC1_ENST00000397556.3_Silent_p.G172G|UQCC1_ENST00000359226.2_Silent_p.G191G|UQCC1_ENST00000374380.2_Silent_p.G203G	NM_018244.4	NP_060714.3			ubiquinol-cytochrome c reductase complex assembly factor 1	271																	AGCTCACCTCCCCTGTCAGAA	0.592000											OREG0025888	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	71	53					0	0	1	0	0
TULP2	7288	broad.mit.edu	37	19	49392787	49392787	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:49392787C>T	ENST00000221399.3	-	7	760	c.616G>A	c.(616-618)Gaa>Aaa	p.E206K		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	206					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GCCAAGTTTTCATATACACAG	0.502000													65	135					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129453164	129453164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129453164G>T	ENST00000355497.5	+	3	383	c.376G>T	c.(376-378)Gag>Tag	p.E126*	LMX1B_ENST00000425646.2_Nonsense_Mutation_p.E103*|LMX1B_ENST00000373474.4_Nonsense_Mutation_p.E126*|LMX1B_ENST00000526117.1_Nonsense_Mutation_p.E126*|LMX1B_ENST00000561065.1_Nonsense_Mutation_p.E103*	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	103	LIM zinc-binding 2.				dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGCCCCCACCGAGTTCGTGAT	0.637000									Nail-Patella Syndrome				16	31					7.87624e-14	8.34856e-14	1	1	0
RICTOR	253260	broad.mit.edu	37	5	38947495	38947495	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:38947495C>T	ENST00000357387.3	-	32	4215	c.4185G>A	c.(4183-4185)ttG>ttA	p.L1395L	RICTOR_ENST00000296782.5_Silent_p.L1419L	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	1395					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	p.L1395L(1)		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)					TAATAGGACTCAATAAATCTT	0.373000													34	30					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17172072	17172072	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:17172072G>A	ENST00000265970.7	-	3	1299	c.1300C>T	c.(1300-1302)Cag>Tag	p.Q434*	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.Q54*	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	434					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	ACTGGTAGCTGAAATCCTTCA	0.403000													25	102					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150714331	150714331	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:150714331G>A	ENST00000605938.1	-	9	2156	c.2081C>T	c.(2080-2082)tCg>tTg	p.S694L	ATG9B_ENST00000377974.2_Missense_Mutation_p.S694L|ATG9B_ENST00000444312.1_Missense_Mutation_p.S180L|ATG9B_ENST00000494791.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	694					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGAGACAGCGAGGCCTCAGT	0.582000													24	35					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547196	132547196	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:132547196G>A	ENST00000333577.4	+	48	8501	c.8392G>A	c.(8392-8394)Ggc>Agc	p.G2798S	EP400_ENST00000389562.2_Missense_Mutation_p.G2761S|EP400_ENST00000330386.6_Missense_Mutation_p.G2681S|EP400_ENST00000389561.2_Missense_Mutation_p.G2762S|EP400_ENST00000332482.4_Missense_Mutation_p.G2725S			Q96L91	EP400_HUMAN	E1A binding protein p400	2798					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		ACAGATCCAGGGCCAGGCCCA	0.612000													51	48					0	0	1	0	0
ARID4B	51742	broad.mit.edu	37	1	235383127	235383127	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:235383127C>A	ENST00000264183.3	-	16	2061	c.1564G>T	c.(1564-1566)Gaa>Taa	p.E522*	ARID4B_ENST00000349213.3_Nonsense_Mutation_p.E522*|ARID4B_ENST00000366603.2_Nonsense_Mutation_p.E522*	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	522	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GCTTTTTCTTCCTCAGCTTCT	0.338000													17	58					3.5997e-14	3.82176e-14	1	1	0
FOXE1	2304	broad.mit.edu	37	9	100616407	100616407	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:100616407G>A	ENST00000375123.3	+	1	872	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	71					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GCACGCGCCCGAGCGCCGCCT	0.697000													12	14					0	0	1	0	0
TXNDC5	81567	broad.mit.edu	37	6	7891866	7891866	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:7891866G>A	ENST00000539054.1	-	5	503	c.504C>T	c.(502-504)gtC>gtT	p.V168V	TXNDC5_ENST00000473453.1_Silent_p.V132V|TXNDC5_ENST00000379757.4_Silent_p.V240V|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 1.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TGCCAATCTTGACAGTTTCGG	0.493000													35	128					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27203074	27203074	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:27203074C>G	ENST00000380036.4	+	13	2608	c.2166C>G	c.(2164-2166)aaC>aaG	p.N722K	TEK_ENST00000406359.4_Missense_Mutation_p.N679K|TEK_ENST00000519097.1_Missense_Mutation_p.N575K	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	722	Fibronectin type-III 3.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGTCAAGCAACCCAGCCTTTT	0.473000													10	79					0	0	1	0	0
GALNT2	2590	broad.mit.edu	37	1	230415081	230415081	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:230415081G>C	ENST00000366672.4	+	16	1665	c.1593G>C	c.(1591-1593)ctG>ctC	p.L531L	GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000543760.1_Silent_p.L493L	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	531	Ricin B-type lectin.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L531L(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				ACTCCAAGCTGAGGCACGTGG	0.582000													18	60					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29738343	29738343	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:29738343C>T	ENST00000357586.2	-	12	1653	c.1467G>A	c.(1465-1467)gtG>gtA	p.V489V	AP1B1_ENST00000317368.7_Silent_p.V489V|AP1B1_ENST00000415447.1_Silent_p.V489V|AP1B1_ENST00000405198.1_Silent_p.V489V|AP1B1_ENST00000402502.1_Silent_p.V489V|AP1B1_ENST00000432560.2_Silent_p.V489V|AP1B1_ENST00000356015.2_Silent_p.V489V	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	489					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GAAAGAGTTTCACAATGGCTG	0.582000													61	19					0	0	1	0	0
UCHL5	51377	broad.mit.edu	37	1	193028361	193028361	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:193028361G>A	ENST00000367455.4	-	1	265	c.30C>T	c.(28-30)ctC>ctT	p.L10L	UCHL5_ENST00000530098.2_5'UTR|UCHL5_ENST00000367454.1_Silent_p.L10L|UCHL5_ENST00000367451.4_Silent_p.L10L|UCHL5_ENST00000367452.4_Intron|UCHL5_ENST00000367448.1_Silent_p.L10L|UCHL5_ENST00000367449.1_Silent_p.L10L	NM_001199261.1|NM_015984.3	NP_001186190.1|NP_057068.1	Q9Y5K5	UCHL5_HUMAN	ubiquitin carboxyl-terminal hydrolase L5						DNA recombination|DNA repair|protein deubiquitination|regulation of proteasomal protein catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytosol|Ino80 complex|proteasome complex	endopeptidase inhibitor activity|omega peptidase activity|proteasome binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(1)|lung(9)|ovary(1)	19						CGCTTTCCATGAGGCACCACT	0.677000													13	41					0	0	1	0	0
TMEM105	284186	broad.mit.edu	37	17	79287597	79287597	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:79287597G>A	ENST00000332900.1	-	3	793	c.244C>T	c.(244-246)Cga>Tga	p.R82*		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	82						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TCATGTCTTCGCCTTCTTATC	0.662000													133	116					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28897142	28897142	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:28897142C>G	ENST00000375664.4	+	8	1421	c.812C>G	c.(811-813)tCa>tGa	p.S271*	WAC_ENST00000375646.1_Nonsense_Mutation_p.S168*|WAC_ENST00000354911.4_Nonsense_Mutation_p.S316*|WAC_ENST00000347934.4_Nonsense_Mutation_p.S213*|WAC_ENST00000428935.1_Nonsense_Mutation_p.S271*			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						AAACCCGTATCACATTCTTGC	0.433000													66	107					0	0	1	0	0
C9orf142	286257	broad.mit.edu	37	9	139887394	139887394	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:139887394G>C	ENST00000371620.3	+	3	224	c.198G>C	c.(196-198)ctG>ctC	p.L66L	C9orf142_ENST00000493968.1_3'UTR	NM_183241.1	NP_899064.1	Q9BUH6	CI142_HUMAN	chromosome 9 open reading frame 142	66												all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTTTTGGCCTGAGTGCGGCTG	0.662000													30	130					0	0	1	0	0
IQCB1	9657	broad.mit.edu	37	3	121509013	121509013	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:121509013C>A	ENST00000310864.6	-	11	1250	c.1036G>T	c.(1036-1038)Gag>Tag	p.E346*	IQCB1_ENST00000349820.6_Nonsense_Mutation_p.E213*	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	346					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TTGAGGTCCTCTTCTTCCTTC	0.383000													34	104					6.02501e-08	6.21508e-08	1	1	0
ZFP37	7539	broad.mit.edu	37	9	115805645	115805645	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:115805645G>A	ENST00000374227.3	-	4	1280	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	ZFP37_ENST00000555206.1_Missense_Mutation_p.S419L|ZFP37_ENST00000553380.1_Missense_Mutation_p.S433L	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	418						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S418L(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGTAAGAGATGAGTTATACCT	0.388000													49	36					0	0	1	0	0
LAPTM4A	9741	broad.mit.edu	37	2	20251207	20251207	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:20251207G>C	ENST00000175091.4	-	1	582	c.75C>G	c.(73-75)gtC>gtG	p.V25V		NM_014713.4	NP_055528.1	Q15012	LAP4A_HUMAN	lysosomal protein transmembrane 4 alpha	25					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCCGGTGCGGACATGGCAAC	0.667000													17	16					0	0	1	0	0
ARHGAP26	23092	broad.mit.edu	37	5	142435652	142435652	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:142435652G>T	ENST00000378004.3	+	16	1787		c.e16+1		ARHGAP26_ENST00000274498.4_Splice_Site	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGCAGCAAGTAAGTCTTTT	0.353000													33	55					2.05212e-20	2.22568e-20	1	1	0
AHNAK	79026	broad.mit.edu	37	11	62295310	62295310	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:62295310C>G	ENST00000378024.4	-	5	6853	c.6579G>C	c.(6577-6579)ttG>ttC	p.L2193F	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2193					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGGGGCCTTTCAAGTTTAAGT	0.473000													106	352					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115147649	115147649	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:115147649C>T	ENST00000393274.1	-	11	2186	c.1561G>A	c.(1561-1563)Gat>Aat	p.D521N	DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Missense_Mutation_p.D464N|DENND2C_ENST00000393277.1_Missense_Mutation_p.D521N	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	521	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCCATGATCATCCTGAAAA	0.363000													6	8					0	0	1	0	0
PILRA	29992	broad.mit.edu	37	7	99995535	99995535	+	Splice_Site	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:99995535G>T	ENST00000198536.2	+	4	919	c.707G>T	c.(706-708)aGg>aTg	p.R236M	PILRA_ENST00000350573.2_Splice_Site_p.R163M|PILRA_ENST00000453419.1_Splice_Site_p.R163M|PILRA_ENST00000394000.2_Intron	NM_013439.2	NP_038467.2	Q9UKJ1	PILRA_HUMAN	paired immunoglobin-like type 2 receptor alpha	236					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACCCCAGCCAGGTGAGTGCTG	0.612000													32	126					4.65686e-17	5.00919e-17	1	1	0
TMEM71	137835	broad.mit.edu	37	8	133771110	133771110	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:133771110G>C	ENST00000356838.3	-	2	158	c.16C>G	c.(16-18)Caa>Gaa	p.Q6E	TMEM71_ENST00000377901.4_Missense_Mutation_p.Q6E|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000523829.1_Missense_Mutation_p.Q6E	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	6						integral to membrane		p.Q6E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GACATCAGTTGAGATATTCGG	0.348000													50	254					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17323611	17323611	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:17323611C>T	ENST00000452699.1	-	12	1273	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	ATP13A2_ENST00000326735.8_Missense_Mutation_p.E367K|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E362K	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	367					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CGGTGTGTCTCTGCACAGTAG	0.652000													130	68					0	0	1	0	0
GNE	10020	broad.mit.edu	37	9	36246323	36246323	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:36246323C>G	ENST00000396594.3	-	3	525	c.414G>C	c.(412-414)atG>atC	p.M138I	GNE_ENST00000539208.1_Missense_Mutation_p.M48I|GNE_ENST00000377902.5_Missense_Mutation_p.M107I|GNE_ENST00000543356.2_Missense_Mutation_p.M102I|GNE_ENST00000447283.2_Missense_Mutation_p.M107I|GNE_ENST00000539815.1_Missense_Mutation_p.M107I	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	107					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CATGAACAATCATGATATCAG	0.522000													18	108					0	0	1	0	0
TMEM38B	55151	broad.mit.edu	37	9	108536171	108536171	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:108536171C>T	ENST00000374688.1	+	6	1234	c.524C>T	c.(523-525)tCt>tTt	p.S175F	TMEM38B_ENST00000374692.3_Missense_Mutation_p.S229F			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	229						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						ACACAGACTTCTACTATGACA	0.358000													23	73					0	0	1	0	0
FAM20A	54757	broad.mit.edu	37	17	66535515	66535515	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:66535515C>T	ENST00000592554.1	-	10	2046	c.1324G>A	c.(1324-1326)Gaa>Aaa	p.E442K	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	442						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					ATGGAGATTTCATCATGGGAG	0.527000													36	159					0	0	1	0	0
PLOD1	5351	broad.mit.edu	37	1	12020784	12020784	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:12020784G>A	ENST00000196061.4	+	10	1084	c.1057G>A	c.(1057-1059)Gag>Aag	p.E353K	PLOD1_ENST00000376369.3_Missense_Mutation_p.E400K	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	353					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTGGGCCCTGAGGTGCGGAT	0.627000													58	39					0	0	1	0	0
PARD6B	84612	broad.mit.edu	37	20	49354553	49354553	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:49354553G>A	ENST00000371610.2	+	2	469	c.226G>A	c.(226-228)Gat>Aat	p.D76N	PARD6B_ENST00000396039.1_Missense_Mutation_p.D76N	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	76	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AAATAATGATGATAATTATCA	0.338000													41	22					0	0	1	0	0
C17orf74	201243	broad.mit.edu	37	17	7330189	7330189	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7330189C>T	ENST00000333870.3	+	3	953	c.879C>T	c.(877-879)gtC>gtT	p.V293V	C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	293						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				CCTCTTGGGTCCCCGTGGGGC	0.677000													18	102					0	0	1	0	0
DSE	29940	broad.mit.edu	37	6	116757927	116757927	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:116757927A>C	ENST00000331677.3	+	7	2740	c.2296A>C	c.(2296-2298)Aac>Cac	p.N766H	DSE_ENST00000359564.2_Missense_Mutation_p.N766H|DSE_ENST00000537543.1_Missense_Mutation_p.N785H|DSE_ENST00000452085.3_Missense_Mutation_p.N766H			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	766					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCGAGTCCGGAACACAGCTAG	0.478000													24	43					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57768706	57768706	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:57768706G>A	ENST00000371030.2	+	1	2632	c.2632G>A	c.(2632-2634)Gag>Aag	p.E878K		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	878						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GCAGGTGGGCGAGCCTCTGGA	0.657000													14	86					0	0	1	0	0
RTN4R	65078	broad.mit.edu	37	22	20230351	20230351	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:20230351G>C	ENST00000043402.7	-	2	743	c.305C>G	c.(304-306)aCt>aGt	p.T102S	RTN4R_ENST00000469601.1_5'UTR	NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	102					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GGCCAGGCCAGTGAAGGCAGC	0.637000													48	25					0	0	1	0	0
USP21	27005	broad.mit.edu	37	1	161130796	161130796	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:161130796G>A	ENST00000368002.3	+	3	743	c.366G>A	c.(364-366)atG>atA	p.M122I	USP21_ENST00000368001.1_Missense_Mutation_p.M122I|USP21_ENST00000289865.8_Missense_Mutation_p.M122I	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	122					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TGCGTCCAATGGGGATTGCCT	0.632000													24	209					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223566977	223566977	+	Missense_Mutation	SNP	G	G	A	rs143800669		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:223566977G>A	ENST00000366875.3	+	1	263	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	54								p.E54K(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TGCGGAGAGCGAAGCTGGGGC	0.736000													45	15					0	0	1	0	0
TENM4	26011	broad.mit.edu	37	11	78381538	78381538	+	Missense_Mutation	SNP	T	T	C	rs76161186		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:78381538T>C	ENST00000278550.7	-	32	6314	c.5852A>G	c.(5851-5853)gAc>gGc	p.D1951G		NM_001098816.2	NP_001092286.2			teneurin transmembrane protein 4																		AGAGAGGCGGTCATTCTTGTC	0.547000													6	122					0	0	1	0	0
MFF	56947	broad.mit.edu	37	2	228205033	228205033	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:228205033G>C	ENST00000353339.3	+	6	896	c.455G>C	c.(454-456)aGa>aCa	p.R152T	MFF_ENST00000524634.1_5'UTR|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000409565.1_Missense_Mutation_p.R126T|MFF_ENST00000392059.1_Missense_Mutation_p.R152T|MFF_ENST00000304593.9_Missense_Mutation_p.R126T|MFF_ENST00000354503.6_Missense_Mutation_p.R126T|MFF_ENST00000349901.7_Missense_Mutation_p.R126T|MFF_ENST00000337110.7_Missense_Mutation_p.R126T|MFF_ENST00000409616.1_Missense_Mutation_p.R126T	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	152						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGACTAAAAAGAGAGCGGTCT	0.413000													28	18					0	0	1	0	0
HKDC1	80201	broad.mit.edu	37	10	70992797	70992797	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:70992797G>T	ENST00000354624.5	+	4	536	c.403G>T	c.(403-405)Gca>Tca	p.A135S	HKDC1_ENST00000395086.2_Missense_Mutation_p.A135S	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	135					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						TGACTGTCTGGCAGATTTCAT	0.468000													14	48					7.93312e-07	8.15764e-07	1	1	0
CSK	1445	broad.mit.edu	37	15	75092810	75092810	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:75092810G>C	ENST00000220003.9	+	6	1249	c.520G>C	c.(520-522)Gag>Cag	p.E174Q	CSK_ENST00000439220.2_Missense_Mutation_p.E174Q|CSK_ENST00000567571.1_Missense_Mutation_p.E174Q|CSK_ENST00000309470.9_Missense_Mutation_p.E174Q	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	174					blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						AAAGGTCATGGAGGGCACAGT	0.622000											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	35					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160267134	160267134	+	Splice_Site	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:160267134C>G	ENST00000241704.7	-	21	2491	c.2262G>C	c.(2260-2262)caG>caC	p.Q754H	COPA_ENST00000368069.3_Splice_Site_p.Q763H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	754					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GATACTTACTCTGTCCACAGT	0.453000													39	338					0	0	1	0	0
TACO1	51204	broad.mit.edu	37	17	61678640	61678640	+	Silent	SNP	C	C	T	rs141350830		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:61678640C>T	ENST00000258975.6	+	1	410	c.198C>T	c.(196-198)gtC>gtT	p.V66V		NM_016360.3	NP_057444.2	Q9BSH4	TACO1_HUMAN	translational activator of mitochondrially encoded cytochrome c oxidase I	66					regulation of translation	mitochondrion				breast(2)|endometrium(1)|lung(1)	4						GGTCCAAAGTCAGGCACATCA	0.637000													25	36					0	0	1	0	0
CCT3	7203	broad.mit.edu	37	1	156279057	156279057	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156279057G>A	ENST00000295688.3	-	14	1851	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	CCT3_ENST00000368261.3_Missense_Mutation_p.S479L|CCT3_ENST00000368259.2_Missense_Mutation_p.S486L|CCT3_ENST00000472765.2_Missense_Mutation_p.S479L	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	524					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TTTGTGGCCTGAAACGATGTC	0.512000													37	183					0	0	1	0	0
FBXL22	283807	broad.mit.edu	37	15	63893794	63893794	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:63893794G>A	ENST00000360587.2	+	2	693	c.653G>A	c.(652-654)aGa>aAa	p.R218K	FBXL22_ENST00000539570.3_Missense_Mutation_p.R212K	NM_203373.2	NP_976307.2	Q6P050	FXL22_HUMAN	F-box and leucine-rich repeat protein 22	212										lung(4)	4						CGCACGGGCAGAAGGAGCCAC	0.716000													8	3					0	0	1	0	0
PCDHB18P	54660	broad.mit.edu	37	5	140616175	140616175	+	RNA	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140616175C>A	ENST00000526308.1	+	0	2238					NR_001281.1															endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGGCCCAGGCCGACTCCCTCA	0.687000													11	138					2.68362e-12	2.83079e-12	1	1	0
SEMA3E	9723	broad.mit.edu	37	7	82997265	82997265	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:82997265C>T	ENST00000307792.3	-	17	2432	c.1965G>A	c.(1963-1965)caG>caA	p.Q655Q	SEMA3E_ENST00000427262.1_Silent_p.Q595Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	655	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCTCTACTGTCTGGCAAAAAT	0.443000													38	62					0	0	1	0	0
ICOS	29851	broad.mit.edu	37	2	204820544	204820544	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:204820544T>C	ENST00000316386.6	+	2	311	c.244T>C	c.(244-246)Ttc>Ctc	p.F82L	ICOS_ENST00000435193.1_Missense_Mutation_p.F82L	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	82	Ig-like V-type.				immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						GAGTCTGAAATTCTGCCATTC	0.388000													28	61					0	0	1	0	0
ZNF281	23528	broad.mit.edu	37	1	200376276	200376276	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:200376276G>C	ENST00000294740.3	-	2	2682	c.2558C>G	c.(2557-2559)tCt>tGt	p.S853C	ZNF281_ENST00000367352.3_Missense_Mutation_p.S817C|ZNF281_ENST00000367353.1_Missense_Mutation_p.S853C	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						TTCTCCATTAGAGTTAGTGAT	0.418000													24	48					0	0	1	0	0
BCAT1	586	broad.mit.edu	37	12	25031487	25031487	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:25031487G>A	ENST00000261192.7	-	5	1013	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000538118.1_Missense_Mutation_p.R162C|BCAT1_ENST00000539780.1_Missense_Mutation_p.R126C|BCAT1_ENST00000539282.1_Missense_Mutation_p.R175C|BCAT1_ENST00000342945.5_Missense_Mutation_p.R102C	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	163					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AATGTAGGACGAATATACAGA	0.373000													23	26					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549345	158549345	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:158549345T>A	ENST00000368150.1	-	1	344	c.345A>T	c.(343-345)ttA>ttT	p.L115F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGCACATCTGTAAGCTACAAC	0.478000													23	129					0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141364706	141364706	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:141364706C>A	ENST00000536163.1	-	7	1100	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	KIAA1147_ENST00000482493.1_Missense_Mutation_p.Q263H	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	367										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GCCACTACCTCTGCTCGTTGA	0.597000													11	19					9.16793e-09	9.5021e-09	1	1	0
ROCK1	6093	broad.mit.edu	37	18	18625257	18625257	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:18625257G>A	ENST00000399799.2	-	5	1526	c.586C>T	c.(586-588)Cac>Tac	p.H196Y		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTTTACCTGTGAATAAAACCC	0.343000													6	31					0	0	1	0	0
FEZF1	389549	broad.mit.edu	37	7	121942239	121942239	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:121942239C>T	ENST00000442488.2	-	4	1307	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	FEZF1_ENST00000331178.4_Missense_Mutation_p.D410N|FEZF1_ENST00000427185.2_Missense_Mutation_p.D364N	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	414					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TTCTTGAGGTCAAAGTTCCTG	0.612000													42	141					0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27437951	27437951	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:27437951G>A	ENST00000326799.3	-	2	200	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	YME1L1_ENST00000375972.3_Missense_Mutation_p.H18Y|YME1L1_ENST00000477432.1_Missense_Mutation_p.H18Y|YME1L1_ENST00000376016.3_Missense_Mutation_p.H18Y	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	18					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTGATGAGATGACTCAGAGGA	0.343000													33	157					0	0	1	0	0
ESRRG	2104	broad.mit.edu	37	1	216850701	216850701	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:216850701G>A	ENST00000391890.3	-	4	637	c.120C>T	c.(118-120)gaC>gaT	p.D40D	ESRRG_ENST00000493603.1_Silent_p.D40D|ESRRG_ENST00000463665.1_Silent_p.D40D|ESRRG_ENST00000493748.1_Silent_p.D40D|ESRRG_ENST00000487276.1_Silent_p.D40D|ESRRG_ENST00000359162.2_Silent_p.D40D|ESRRG_ENST00000360012.3_Silent_p.D40D|ESRRG_ENST00000361525.3_Silent_p.D40D|ESRRG_ENST00000366937.1_Silent_p.D68D|ESRRG_ENST00000361395.2_Silent_p.D40D|ESRRG_ENST00000408911.3_Silent_p.D63D|ESRRG_ENST00000366940.2_Silent_p.D40D|ESRRG_ENST00000366938.2_Silent_p.D40D	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	63					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	TCCCACTGGCGTCTGAAGAGC	0.572000													39	77					0	0	1	0	0
IRX6	79190	broad.mit.edu	37	16	55363210	55363210	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:55363210G>C	ENST00000290552.7	+	5	2652	c.1320G>C	c.(1318-1320)ccG>ccC	p.P440P	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	440						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GCCAGTACCCGTCTGGAGCAG	0.627000													3	51					0	0	1	0	0
CTH	1491	broad.mit.edu	37	1	70897772	70897772	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:70897772G>T	ENST00000411986.2	+	7	833	c.635G>T	c.(634-636)gGa>gTa	p.G212V	CTH_ENST00000370938.3_Missense_Mutation_p.G244V|CTH_ENST00000346806.2_Missense_Mutation_p.G200V	NM_001190463.1	NP_001177392.1	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	244					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GCAGCTCTTGGAGCAGTTCCA	0.438000													14	35					1.02788e-11	1.08077e-11	1	1	0
SYNE1	23345	broad.mit.edu	37	6	152765587	152765587	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:152765587C>T	ENST00000367255.5	-	30	4397	c.3796G>A	c.(3796-3798)Gaa>Aaa	p.E1266K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E1266K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1273K|SYNE1_ENST00000367248.3_Missense_Mutation_p.E1256K|SYNE1_ENST00000367253.4_Missense_Mutation_p.E1266K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1273K|SYNE1_ENST00000413186.2_Missense_Mutation_p.E1266K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1332K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1266					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)		AACAGATTTTCAGTATCCAAG	0.368000										HNSCC(10;0.0054)			25	38					0	0	1	0	0
COG8	84342	broad.mit.edu	37	16	69368866	69368866	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:69368866G>C	ENST00000306875.4	-	3	1085	c.971C>G	c.(970-972)tCa>tGa	p.S324*	COG8_ENST00000562081.1_Nonsense_Mutation_p.S324*	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	324					protein transport	Golgi membrane|Golgi transport complex				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						CAGGAATTGTGAGACCTTCTG	0.592000													25	59					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32913201	32913201	+	Missense_Mutation	SNP	G	G	C	rs80359464		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32913201G>C	ENST00000544455.1	+	11	4936	c.4709G>C	c.(4708-4710)aGa>aCa	p.R1570T	BRCA2_ENST00000380152.3_Missense_Mutation_p.R1570T	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1570					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTAAAGTACAGAGAGGCCTGT	0.383000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			16	86					0	0	1	0	0
POU6F1	5463	broad.mit.edu	37	12	51585471	51585471	+	Silent	SNP	G	G	A	rs150600315	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51585471G>A	ENST00000389243.4	-	10	1407	c.468C>T	c.(466-468)atC>atT	p.I156I	POU6F1_ENST00000333640.10_Silent_p.I156I|POU6F1_ENST00000550824.1_Silent_p.I156I			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	156	POU-specific.				brain development|heart development|muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGAGCCGCCGGATCTTAAAGT	0.572000													43	93					0	0	1	0	0
PNLIPRP1	5407	broad.mit.edu	37	10	118365052	118365052	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:118365052G>C	ENST00000528052.1	+	12	1398	c.1327G>C	c.(1327-1329)Gaa>Caa	p.E443Q	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.E443Q|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.E443Q			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	443	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GCAAAAGGGAGAAGAGAAGAC	0.403000													38	44					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23724503	23724503	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:23724503C>T	ENST00000256797.4	-	1	318	c.150G>A	c.(148-150)gcG>gcA	p.A50A	ERN2_ENST00000457008.2_Silent_p.A2A	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	2					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TGACCGCACTCGCCATAGCGC	0.736000													7	5					0	0	1	0	0
CHD1	1105	broad.mit.edu	37	5	98236691	98236691	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:98236691T>C	ENST00000284049.3	-	6	832	c.683A>G	c.(682-684)gAt>gGt	p.D228G		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	228					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	ACTTCTTTTATCATTATCATA	0.363000													15	20					0	0	1	0	0
SLC15A2	6565	broad.mit.edu	37	3	121642098	121642098	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:121642098G>A	ENST00000489711.1	+	11	1375	c.987G>A	c.(985-987)agG>agA	p.R329R	SLC15A2_ENST00000295605.2_Silent_p.R298R	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	329					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	AAGCCATCAGGATGAATAGGA	0.403000													18	63					0	0	1	0	0
TSKU	25987	broad.mit.edu	37	11	76507100	76507100	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:76507100C>T	ENST00000527881.1	+	2	1466	c.440C>T	c.(439-441)tCa>tTa	p.S147L	TSKU_ENST00000333090.4_Missense_Mutation_p.S147L			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	147						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CGGGAGGTCTCAGTGTCTGCC	0.652000													27	117					0	0	1	0	0
PCNXL4	64430	broad.mit.edu	37	14	60585115	60585115	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:60585115G>C	ENST00000406854.1	+	7	2201	c.1647G>C	c.(1645-1647)ttG>ttC	p.L549F	PCNXL4_ENST00000406949.1_Missense_Mutation_p.L315F|PCNXL4_ENST00000404681.2_Missense_Mutation_p.L549F|PCNXL4_ENST00000317623.4_Missense_Mutation_p.L315F					pecanex-like 4 (Drosophila)																		CTGTGCTTTTGACATCATGGA	0.338000													5	9					0	0	1	0	0
FH	2271	broad.mit.edu	37	1	241663770	241663770	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:241663770G>C	ENST00000366560.3	-	9	1395	c.1357C>G	c.(1357-1359)Cta>Gta	p.L453V		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	453					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCAACATTAGAGACTCATTC	0.388000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer				134	70					0	0	1	0	0
RHD	6007	broad.mit.edu	37	1	25599110	25599110	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:25599110C>T	ENST00000328664.4	+	1	227	c.72C>T	c.(70-72)ctC>ctT	p.L24L	RHD_ENST00000423810.2_Silent_p.L24L|RHD_ENST00000454452.2_Silent_p.L24L|RHD_ENST00000417538.2_Silent_p.L24L|RHD_ENST00000357542.4_Silent_p.L24L|RHD_ENST00000423253.1_3'UTR|RHD_ENST00000568195.1_Silent_p.L24L|RHD_ENST00000342055.5_Silent_p.L24L	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	24						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGCAGCTCTCATTCTCCTCT	0.532000													9	45					0	0	1	0	0
PER3	8863	broad.mit.edu	37	1	7902801	7902801	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:7902801G>C	ENST00000377532.3	+	21	3843	c.3619G>C	c.(3619-3621)Gaa>Caa	p.E1207Q	PER3_ENST00000361923.2_Missense_Mutation_p.E1198Q			P56645	PER3_HUMAN	period circadian clock 3	1198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCTGGTAGAAGACAGCTG	0.453000													20	55					0	0	1	0	0
AMER3	205147	broad.mit.edu	37	2	131520411	131520411	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:131520411G>A	ENST00000423981.1	+	2	876	c.766G>A	c.(766-768)Gat>Aat	p.D256N	AMER3_ENST00000321420.4_Missense_Mutation_p.D256N	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2			APC membrane recruitment protein 3																		GGTGTTCGCAGATGAGAGCTC	0.647000													58	54					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53084386	53084386	+	Silent	SNP	G	G	A	rs144551525		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:53084386G>A	ENST00000276480.7	-	10	1718	c.1035C>T	c.(1033-1035)atC>atT	p.I345I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	345						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CACCCATGTCGATAACTTTGG	0.403000													37	159					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113694393	113694393	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:113694393C>T	ENST00000003302.4	-	12	1285	c.1217G>A	c.(1216-1218)cGa>cAa	p.R406Q	USP28_ENST00000537706.1_Missense_Mutation_p.R406Q|USP28_ENST00000544967.1_Missense_Mutation_p.R114Q|USP28_ENST00000545540.1_Missense_Mutation_p.R281Q|USP28_ENST00000260188.5_Missense_Mutation_p.R406Q	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	406					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TCTCTTATTTCGAATAAGCTC	0.318000													11	4					0	0	1	0	0
KLHL31	401265	broad.mit.edu	37	6	53516582	53516582	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:53516582C>T	ENST00000370905.3	-	3	1859	c.1719G>A	c.(1717-1719)tgG>tgA	p.W573*	KLHL31_ENST00000407079.1_Nonsense_Mutation_p.W573*	NM_001003760.4	NP_001003760.2	Q9H511	KLH31_HUMAN	kelch-like family member 31	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					CGCCCTCGTTCCAGCCCCCCA	0.687000													15	41					0	0	1	0	0
ZNF780A	284323	broad.mit.edu	37	19	40580552	40580552	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:40580552T>G	ENST00000450241.2	-	6	2006	c.1695A>C	c.(1693-1695)caA>caC	p.Q565H	ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.Q600H|ZNF780A_ENST00000340963.5_Missense_Mutation_p.Q599H|ZNF780A_ENST00000595687.2_Missense_Mutation_p.Q599H|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000594395.1_Missense_Mutation_p.Q600H			O75290	Z780A_HUMAN	zinc finger protein 780A	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAATAAGTTGCATATGAA	0.403000													6	211					0	0	1	0	0
IMP3	55272	broad.mit.edu	37	15	75932413	75932413	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:75932413C>T	ENST00000314852.2	-	2	1040	c.97G>A	c.(97-99)Gtg>Atg	p.V33M	IMP3_ENST00000403490.1_Missense_Mutation_p.V33M			Q9NV31	IMP3_HUMAN	IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast)	33	Arg-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding|rRNA binding			large_intestine(1)	1						CGCCGCAGCACGCGCAGCTCG	0.657000													8	21					0	0	1	0	0
POLRMT	5442	broad.mit.edu	37	19	619263	619263	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:619263G>A	ENST00000588649.2	-	14	3184	c.3100C>T	c.(3100-3102)Cgc>Tgc	p.R1034C		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	1034	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGACCTGGCGTACGAGATAG	0.637000													4	114					0	0	1	0	0
RASD2	23551	broad.mit.edu	37	22	35947637	35947637	+	Missense_Mutation	SNP	A	A	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:35947637A>G	ENST00000216127.4	+	3	1001	c.359A>G	c.(358-360)aAg>aGg	p.K120R		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	120					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CTGGAGGTCAAGTCCTGCCTG	0.597000													28	98					0	0	1	0	0
ZNF223	7766	broad.mit.edu	37	19	44571265	44571265	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:44571265C>G	ENST00000591793.1	+	7	1697	c.1614C>G	c.(1612-1614)ttC>ttG	p.F538L	ZNF223_ENST00000434772.3_Missense_Mutation_p.F428L			Q9UK11	ZN223_HUMAN	zinc finger protein 223	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				AAAAACCATTCAAATGTGAGG	0.408000													60	66					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53959484	53959484	+	RNA	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:53959484G>C	ENST00000454407.1	+	0	2176							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATAGTGGAGAGAACCCTTA	0.383000													11	91					0	0	1	0	0
LMX1B	4010	broad.mit.edu	37	9	129455807	129455807	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:129455807G>C	ENST00000355497.5	+	5	753	c.746G>C	c.(745-747)cGa>cCa	p.R249P	LMX1B_ENST00000425646.2_Missense_Mutation_p.R226P|LMX1B_ENST00000373474.4_Missense_Mutation_p.R249P|LMX1B_ENST00000526117.1_Missense_Mutation_p.R249P|LMX1B_ENST00000561065.1_Missense_Mutation_p.R226P	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	226					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGCCAGGTCCGAGAGACACTG	0.612000									Nail-Patella Syndrome				48	39					0	0	1	0	0
SON	6651	broad.mit.edu	37	21	34926321	34926321	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:34926321C>T	ENST00000356577.4	+	3	5259	c.4784C>T	c.(4783-4785)tCt>tTt	p.S1595F	SON_ENST00000290239.6_Missense_Mutation_p.S1595F|SON_ENST00000300278.4_Missense_Mutation_p.S1595F|SON_ENST00000381679.4_Missense_Mutation_p.S1595F|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1595					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ACTCTATCTTCTACTGGTCCT	0.413000													25	51					0	0	1	0	0
BEND5	79656	broad.mit.edu	37	1	49208411	49208411	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:49208411C>T	ENST00000371833.3	-	4	864	c.778G>A	c.(778-780)Gaa>Aaa	p.E260K	AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron|BEND5_ENST00000476096.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	260										large_intestine(5)|lung(2)|skin(1)	8						TCGAGACATTCTGACTTTACT	0.443000													3	76					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30185085	30185085	+	Nonsense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:30185085C>A	ENST00000397771.2	-	21	2368	c.2191G>T	c.(2191-2193)Gaa>Taa	p.E731*	ASCC2_ENST00000307790.3_Nonsense_Mutation_p.E731*|ASCC2_ENST00000542393.1_Nonsense_Mutation_p.E655*			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TTGTTGGCTTCCTTCTTCCTG	0.622000													119	403					2.43435e-39	2.67125e-39	1	1	0
SYNE2	23224	broad.mit.edu	37	14	64545285	64545285	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:64545285G>C	ENST00000357395.3	+	55	11354	c.210G>C	c.(208-210)caG>caC	p.Q70H	SYNE2_ENST00000554584.1_Missense_Mutation_p.Q3741H|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q342H|SYNE2_ENST00000344113.4_Missense_Mutation_p.Q3708H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q70H|SYNE2_ENST00000358025.3_Missense_Mutation_p.Q3708H			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3708	Actin-binding.|CH 1.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTGCAGCAGAAAAGCAAAA	0.358000													8	12					0	0	1	0	0
BARD1	580	broad.mit.edu	37	2	215645993	215645993	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:215645993G>C	ENST00000260947.4	-	4	739	c.605C>G	c.(604-606)tCt>tGt	p.S202C	BARD1_ENST00000471787.1_5'UTR|BARD1_ENST00000449967.2_Missense_Mutation_p.S58C	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	202					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTTTTCCAGATCTTGCAGA	0.368000									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				7	15					0	0	1	0	0
DFFA	1676	broad.mit.edu	37	1	10529339	10529339	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:10529339C>G	ENST00000377038.3	-	2	260	c.193G>C	c.(193-195)Gag>Cag	p.E65Q	DFFA_ENST00000377036.2_Missense_Mutation_p.E65Q	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	65	CIDE-N.				DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GTGCCATCCTCTGCCAGGACC	0.428000													26	61					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55540055	55540055	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:55540055C>T	ENST00000220676.1	+	4	3761	c.3613C>T	c.(3613-3615)Cca>Tca	p.P1205S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1205					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGACATGGTTCCAATAGATCT	0.423000													20	77					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537511	55537511	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:55537511G>A	ENST00000220676.1	+	4	1217	c.1069G>A	c.(1069-1071)Ggt>Agt	p.G357S		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	357					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CAGTAAAACTGGTCCTTCTAA	0.363000													7	18					0	0	1	0	0
BRCA2	675	broad.mit.edu	37	13	32914175	32914175	+	Missense_Mutation	SNP	G	G	A	rs146351301	by1000genomes	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:32914175G>A	ENST00000544455.1	+	11	5910	c.5683G>A	c.(5683-5685)Gag>Aag	p.E1895K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1895K	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1895					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AGGTTGTTACGAGGCATTGGA	0.338000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			10	48					0	0	1	0	0
RUSC1-AS1	284618	broad.mit.edu	37	1	155290535	155290535	+	RNA	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155290535C>T	ENST00000446880.1	-	0	410				RUSC1-AS1_ENST00000450199.1_RNA|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000543656.1_RNA			Q66K80	RUAS1_HUMAN																			TGGGAGGACTCGCTGCACGGA	0.542000													4	18					0	0	1	0	0
CCDC11	220136	broad.mit.edu	37	18	47777950	47777950	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr18:47777950C>G	ENST00000398545.4	-	4	795	c.678G>C	c.(676-678)ctG>ctC	p.L226L		NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN	coiled-coil domain containing 11	226										endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		TGTTCTCCATCAGCTCTTTCT	0.552000													36	63					0	0	1	0	0
EBNA1BP2	10969	broad.mit.edu	37	1	43637293	43637293	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:43637293G>A	ENST00000431635.2	-	4	493	c.345C>T	c.(343-345)ttC>ttT	p.F115F	EBNA1BP2_ENST00000236051.2_Silent_p.F60F|EBNA1BP2_ENST00000472982.1_5'UTR	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	60					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GATCCCGCTTGAATTCTGCCA	0.522000													146	109					0	0	1	0	0
CABLES2	81928	broad.mit.edu	37	20	60968519	60968519	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:60968519G>A	ENST00000279101.5	-	6	865	c.857C>T	c.(856-858)tCg>tTg	p.S286L		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	286					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGCTGGTGCCGACTTGGTGGG	0.637000													45	151					0	0	1	0	0
ZNF148	7707	broad.mit.edu	37	3	124952313	124952313	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:124952313C>A	ENST00000360647.4	-	9	1742	c.1257G>T	c.(1255-1257)gaG>gaT	p.E419D	ZNF148_ENST00000497929.1_5'UTR|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.E419D|ZNF148_ENST00000492394.1_Missense_Mutation_p.E419D|ZNF148_ENST00000485866.1_Missense_Mutation_p.E419D|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	419					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AAACTTTGCTCTCTTCATATG	0.373000													13	49					4.36969e-10	4.54337e-10	1	1	0
SYNPO2	171024	broad.mit.edu	37	4	119951529	119951529	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:119951529G>A	ENST00000307142.4	+	4	1795	c.1599G>A	c.(1597-1599)acG>acA	p.T533T	SYNPO2_ENST00000434046.2_Silent_p.T533T|SYNPO2_ENST00000429713.2_Silent_p.T533T|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	533						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGAGAACCACGACTTCTTACC	0.507000													23	20					0	0	1	0	0
FOCAD	54914	broad.mit.edu	37	9	20946772	20946772	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:20946772G>A	ENST00000380249.1	+	32	3992	c.3628G>A	c.(3628-3630)Gag>Aag	p.E1210K	FOCAD_ENST00000338382.6_Missense_Mutation_p.E1210K|FOCAD_ENST00000605086.1_Missense_Mutation_p.E646K	NM_017794.3	NP_060264.3	Q5VW36	K1797_HUMAN	focadhesin	1210						integral to membrane	binding										TACAGAGGCTGAGGATGTTAT	0.448000													97	3					0	0	1	0	0
KLHL10	317719	broad.mit.edu	37	17	40004197	40004197	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:40004197G>C	ENST00000293303.4	+	5	1618	c.1465G>C	c.(1465-1467)Gat>Cat	p.D489H		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	489						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				AGGTGGCTTTGATGGAGCTAA	0.483000													86	113					0	0	1	0	0
UBE2O	63893	broad.mit.edu	37	17	74396299	74396299	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:74396299C>T	ENST00000319380.7	-	8	1148	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	362							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTGGCTGGCTCTACCTTGGCT	0.582000													53	84					0	0	1	0	0
DIP2B	57609	broad.mit.edu	37	12	51117053	51117053	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:51117053C>G	ENST00000301180.5	+	27	3269	c.3235C>G	c.(3235-3237)Cca>Gca	p.P1079A		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1079						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CGTCAGACCTCCACATGCTCA	0.522000													36	98					0	0	1	0	0
MLLT6	4302	broad.mit.edu	37	17	36875796	36875796	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:36875796C>T	ENST00000325718.7	+	13	2060	c.1969C>T	c.(1969-1971)Cgg>Tgg	p.R657W	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	657					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CTGCAGCTTCCGGTGTCGGGG	0.657000			T	MLL	AL								16	35					0	0	1	0	0
FGL2	10875	broad.mit.edu	37	7	76828885	76828885	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:76828885C>G	ENST00000248598.5	-	1	258	c.226G>C	c.(226-228)Gag>Cag	p.E76Q	CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	76					signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						AACACCTCCTCGATCCTGCTG	0.507000													27	85					0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129634083	129634083	+	Missense_Mutation	SNP	A	A	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:129634083A>T	ENST00000421865.2	+	23	3301	c.3252A>T	c.(3250-3252)aaA>aaT	p.K1084N		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1084	Laminin EGF-like 12.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTCATCCAAAATTCTCTGGTG	0.473000													12	18					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25274960	25274960	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:25274960C>T	ENST00000218548.6	+	13	2132	c.1799C>T	c.(1798-1800)cCg>cTg	p.P600L	ATP12A_ENST00000381946.3_Missense_Mutation_p.P594L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	594					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGAACTTTCCGACCTCCAAC	0.488000													61	28					0	0	1	0	0
CTTN	2017	broad.mit.edu	37	11	70281143	70281143	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:70281143G>A	ENST00000301843.8	+	18	1734	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	CTTN_ENST00000376561.3_Missense_Mutation_p.E473K|CTTN_ENST00000346329.3_Missense_Mutation_p.E473K|CTTN_ENST00000538675.1_Missense_Mutation_p.E194K	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	510	SH3.					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGCGATGATGAGATCTCATT	0.557000													42	145					0	0	1	0	0
ATG9B	285973	broad.mit.edu	37	7	150714325	150714325	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:150714325G>C	ENST00000605938.1	-	9	2162	c.2087C>G	c.(2086-2088)tCt>tGt	p.S696C	ATG9B_ENST00000377974.2_Missense_Mutation_p.S696C|ATG9B_ENST00000444312.1_Missense_Mutation_p.S182C|ATG9B_ENST00000494791.1_5'UTR	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	696					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACGCTGAGACAGCGAGGC	0.592000													23	31					0	0	1	0	0
BBS9	27241	broad.mit.edu	37	7	33644572	33644572	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:33644572G>A	ENST00000242067.6	+	22	3138	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	BBS9_ENST00000350941.3_Missense_Mutation_p.E833K|BBS9_ENST00000355070.2_Missense_Mutation_p.E868K|BBS9_ENST00000354265.4_Missense_Mutation_p.E838K|BBS9_ENST00000396127.2_Missense_Mutation_p.E838K	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	873					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCTCACTGCAGAGACACCCAG	0.453000									Bardet-Biedl syndrome				15	18					0	0	1	0	0
HBS1L	10767	broad.mit.edu	37	6	135318567	135318567	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:135318567C>T	ENST00000367837.5	-	6	973	c.767G>A	c.(766-768)gGa>gAa	p.G256E	HBS1L_ENST00000527578.1_Missense_Mutation_p.G92E|HBS1L_ENST00000445176.2_Intron|HBS1L_ENST00000367826.2_Missense_Mutation_p.G214E|HBS1L_ENST00000415177.2_Missense_Mutation_p.G191E|HBS1L_ENST00000367824.4_Missense_Mutation_p.G92E	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	256					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		CTGCTTCCCTCCTTGCCGCTT	0.542000													29	57					0	0	1	0	0
UBR4	23352	broad.mit.edu	37	1	19497282	19497282	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:19497282G>C	ENST00000375267.2	-	26	3620	c.3617C>G	c.(3616-3618)tCt>tGt	p.S1206C	UBR4_ENST00000375217.2_Missense_Mutation_p.S1206C|UBR4_ENST00000375226.2_Missense_Mutation_p.S1206C|UBR4_ENST00000375254.3_Missense_Mutation_p.S1206C			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1206					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GCACCTGCTAGAGCCAATAGC	0.428000													71	37					0	0	1	0	0
IL17RA	23765	broad.mit.edu	37	22	17579721	17579721	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:17579721G>A	ENST00000319363.6	+	4	500	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	IL17RA_ENST00000477874.1_3'UTR	NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	123					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GAACACCAATGAACGTTTGTG	0.512000													26	102					0	0	1	0	0
BCDIN3D	144233	broad.mit.edu	37	12	50232675	50232675	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:50232675C>T	ENST00000333924.4	-	2	399	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	120	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CATTCTTTTTCGGCTCGCTTC	0.488000											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	17	50					0	0	1	0	0
CBLB	868	broad.mit.edu	37	3	105421029	105421029	+	Nonsense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:105421029G>C	ENST00000264122.4	-	12	2189	c.1868C>G	c.(1867-1869)tCa>tGa	p.S623*	CBLB_ENST00000394027.3_Nonsense_Mutation_p.S645*|CBLB_ENST00000405772.1_Nonsense_Mutation_p.S623*|CBLB_ENST00000403724.1_Nonsense_Mutation_p.S623*	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	623	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						ATTGACATTTGAACTCGCTGT	0.502000			Mis S		AML								21	51					0	0	1	0	0
MAP1B	4131	broad.mit.edu	37	5	71494799	71494799	+	Nonsense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:71494799C>T	ENST00000296755.7	+	5	5915	c.5617C>T	c.(5617-5619)Caa>Taa	p.Q1873*		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1873						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTATGCCTATCAAAAGCCTGA	0.473000													29	7					0	0	1	0	0
NPTX1	4884	broad.mit.edu	37	17	78449360	78449360	+	Silent	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:78449360G>T	ENST00000306773.4	-	2	760	c.603C>A	c.(601-603)atC>atA	p.I201I	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	201					central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GGGCGGTCTCGATCTTGACCC	0.667000													32	53					1.90571e-15	2.02986e-15	1	1	0
HIST1H4I	8294	broad.mit.edu	37	6	27107240	27107240	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:27107240C>G	ENST00000354348.2	+	1	165	c.153C>G	c.(151-153)atC>atG	p.I51M	HIST1H2BK_ENST00000396891.4_Intron	NM_003495.2	NP_003486.1	P62805	H4_HUMAN	histone cluster 1, H4i	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			lung(1)	1						CTGGCCTCATCTATGAGGAGA	0.637000			T	BCL6	NHL								185	141					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628300	29628300	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:29628300G>A	ENST00000278882.3	+	6	682	c.302G>A	c.(301-303)aGt>aAt	p.S101N	FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N|FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N														p.S101N(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GAAGCAAAAAGTAAAACAGCA	0.358000													4	107					0	0	1	0	0
ZNF253	56242	broad.mit.edu	37	19	19990939	19990939	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:19990939G>A	ENST00000589717.1	+	3	302	c.210G>A	c.(208-210)atG>atA	p.M70I	ZNF253_ENST00000355650.4_Intron	NM_021047.2	NP_066385.2	O75346	ZN253_HUMAN	zinc finger protein 253	70	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GACATGAGATGATTGCCAAAC	0.373000													6	33					0	0	1	0	0
PROZ	8858	broad.mit.edu	37	13	113814360	113814360	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:113814360C>T	ENST00000342783.4	+	3	176	c.169C>T	c.(169-171)Ctg>Ttg	p.L57L	PROZ_ENST00000375547.2_Silent_p.L35L	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	35	Gla.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	AAACGACGTTCTGGTGAGGTG	0.517000													72	233					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560834	32560834	+	Nonsense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:32560834C>G	ENST00000345122.3	+	2	1274	c.959C>G	c.(958-960)tCa>tGa	p.S320*	ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.S320*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.S320*|ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.S320*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	320	FF 1.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AATACATTCTCAAAACATATA	0.299000													15	19					0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179371085	179371085	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:179371085C>T	ENST00000263966.3	+	1	543	c.72C>T	c.(70-72)atC>atT	p.I24I	USP13_ENST00000482333.1_3'UTR	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	24					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			CAGGAGACATCGGCGAGCTGC	0.692000													4	3					0	0	1	0	0
C20orf26	26074	broad.mit.edu	37	20	20177385	20177385	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:20177385T>G	ENST00000245957.5	+	16	1838	c.1762T>G	c.(1762-1764)Tac>Gac	p.Y588D	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	588										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATCCTGTCTCTACTACCGTGT	0.473000													18	56					0	0	1	0	0
RRNAD1	51093	broad.mit.edu	37	1	156698908	156698908	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:156698908C>T	ENST00000368216.4	+	1	642	c.12C>T	c.(10-12)atC>atT	p.I4I	RRNAD1_ENST00000368218.4_Silent_p.I4I|RRNAD1_ENST00000524343.1_Silent_p.I4I	NM_015997.3	NP_057081.3	Q96FB5	RRNAD_HUMAN	ribosomal RNA adenine dimethylase domain containing 1	4						integral to membrane	rRNA (adenine-N6,N6-)-dimethyltransferase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)	9						TGCCGGGCATCTCCGCCCGAG	0.642000													10	36					0	0	1	0	0
LAMA5	3911	broad.mit.edu	37	20	60921967	60921967	+	Splice_Site	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:60921967A>C	ENST00000252999.3	-	7	1139		c.e7+1		LAMA5_ENST00000370677.3_Splice_Site|LAMA5_ENST00000370692.3_Splice_Site	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGGCACTCACACTGGCACT	0.687000													33	52					0	0	1	0	0
RANBP17	64901	broad.mit.edu	37	5	170319554	170319554	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:170319554C>G	ENST00000523189.1	+	4	584	c.420C>G	c.(418-420)ctC>ctG	p.L140L		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	140					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAAGTTTCTCCAGGTAAGAA	0.348000			T	TRD@	ALL								25	69					0	0	1	0	0
ODF1	4956	broad.mit.edu	37	8	103572958	103572958	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:103572958C>G	ENST00000285402.3	+	2	755	c.599C>G	c.(598-600)tCt>tGt	p.S200C	ODF1_ENST00000518835.1_Intron	NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	200					cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			AAGATCGAGTCTCCTTGCTAC	0.572000													29	19					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197398672	197398672	+	Nonsense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:197398672G>T	ENST00000367397.1	+	4	1771	c.913G>T	c.(913-915)Gag>Tag	p.E305*	CRB1_ENST00000544212.1_Nonsense_Mutation_p.E405*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.E812*|CRB1_ENST00000367400.3_Nonsense_Mutation_p.E924*|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000535699.1_Nonsense_Mutation_p.E900*			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	924	EGF-like 8.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGCCTGTGAGGAGGTTCAGTG	0.547000													28	62					8.16721e-17	8.75632e-17	1	1	0
SPAG17	200162	broad.mit.edu	37	1	118640379	118640379	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:118640379C>T	ENST00000336338.5	-	7	990	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	309						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGATTTGTTTCAGGTTTCTCA	0.373000													13	31					0	0	1	0	0
MR1	3140	broad.mit.edu	37	1	181019244	181019244	+	Silent	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:181019244G>C	ENST00000367580.5	+	3	431	c.426G>C	c.(424-426)ctG>ctC	p.L142L	MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron|MR1_ENST00000282990.6_Silent_p.L142L|MR1_ENST00000434571.2_Silent_p.L142L	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	142	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						AGGATTTCCTGATCTTCAATA	0.498000													39	47					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789625	130789625	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:130789625G>C	ENST00000276708.4	-	2	1090	c.209C>G	c.(208-210)tCt>tGt	p.S70C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	70						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TAGGACTGAAGAACTTGGCTC	0.443000													34	73					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834306	168834306	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:168834306C>A	ENST00000464456.1	-	7	1990	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	MECOM_ENST00000433243.2_Missense_Mutation_p.D265Y|MECOM_ENST00000264674.3_Missense_Mutation_p.D329Y|MECOM_ENST00000472280.1_Missense_Mutation_p.D265Y|MECOM_ENST00000392736.3_Missense_Mutation_p.D264Y|MECOM_ENST00000460814.1_Missense_Mutation_p.D264Y|MECOM_ENST00000468789.1_Missense_Mutation_p.D264Y|MECOM_ENST00000494292.1_Missense_Mutation_p.D452Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GACGTTTTATCCATAGCTGGG	0.478000													35	31					5.8336e-16	6.22378e-16	1	1	0
FMO2	2327	broad.mit.edu	37	1	171174608	171174608	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:171174608G>T	ENST00000441535.1	+	7	1135	c.1018G>T	c.(1018-1020)Gat>Tat	p.D340Y	RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.D340Y|RP1-127D3.4_ENST00000422841.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	340					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTCCTTGAAGATTCACTCGT	0.418000													10	27					0.000673444	0.000686032	1	1	0
CADM3	57863	broad.mit.edu	37	1	159161793	159161793	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:159161793G>A	ENST00000368125.4	+	2	313	c.156G>A	c.(154-156)gtG>gtA	p.V52V	CADM3_ENST00000368124.4_Silent_p.V86V	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	52	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					AGTGCCAAGTGAAAGATCACG	0.512000													91	57					0	0	1	0	0
ZDHHC20	253832	broad.mit.edu	37	13	21955650	21955650	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr13:21955650C>T	ENST00000400590.3	-	11	1181	c.983G>A	c.(982-984)aGt>aAt	p.S328N	ZDHHC20_ENST00000320220.9_3'UTR|ZDHHC20_ENST00000415724.1_Missense_Mutation_p.S328N|ZDHHC20_ENST00000494731.1_5'UTR|ZDHHC20_ENST00000382466.3_Missense_Mutation_p.S327N|ZDHHC20_ENST00000542645.1_Missense_Mutation_p.S265N			Q5W0Z9	ZDH20_HUMAN	zinc finger, DHHC-type containing 20	328						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	9		all_cancers(29;8.1e-16)|all_epithelial(30;3.63e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000268)|Epithelial(112;0.000735)|OV - Ovarian serous cystadenocarcinoma(117;0.00517)|Lung(94;0.171)		TTTTGATTCACTAAGTGGTTT	0.378000													35	14					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101591943	101591943	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:101591943G>A	ENST00000335681.5	+	14	1591	c.1306G>A	c.(1306-1308)Gag>Aag	p.E436K	AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA|NPAS2_ENST00000542504.1_Missense_Mutation_p.E501K	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	436					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCTGATGGCAGAGGCCAGCAC	0.577000													156	253					0	0	1	0	0
GOLGA8M	653720	broad.mit.edu	37	15	23261093	23261093	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:23261093G>A	ENST00000450802.3	+	10	866	c.768G>A	c.(766-768)atG>atA	p.M256I		NM_001282468.1|NM_001282472.1|NM_001282484.1|NM_001282490.1|NM_001282493.1|NM_001282494.1	NP_001269397.1|NP_001269401.1|NP_001269413.1|NP_001269419.1|NP_001269422.1|NP_001269423.1																					AGCAGAGGATGAGAAAAATGT	0.458000													36	302					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	30934029	30934029	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:30934029C>G	ENST00000399914.1	-	14	2748	c.2227G>C	c.(2227-2229)Gag>Cag	p.E743Q	GRIK1_ENST00000327783.4_Missense_Mutation_p.E758Q|GRIK1_ENST00000399909.1_Missense_Mutation_p.E743Q|GRIK1_ENST00000389125.3_Missense_Mutation_p.E743Q|GRIK1_ENST00000389124.2_Missense_Mutation_p.E758Q|GRIK1_ENST00000399913.1_Missense_Mutation_p.E758Q|GRIK1_ENST00000399907.1_Missense_Mutation_p.E758Q|GRIK1_ENST00000309434.7_Missense_Mutation_p.E760Q|GRIK1_ENST00000535441.1_Missense_Mutation_p.E760Q			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	758					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTCACATACTCAATGCTGGTG	0.547000													48	31					0	0	1	0	0
DDC	1644	broad.mit.edu	37	7	50537777	50537777	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:50537777G>C	ENST00000444124.2	-	12	1334	c.1134C>G	c.(1132-1134)atC>atG	p.I378M	DDC_ENST00000357936.5_Missense_Mutation_p.I378M|DDC_ENST00000426377.1_Missense_Mutation_p.I300M|DDC_ENST00000431062.1_Missense_Mutation_p.I285M	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	378					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TCACCTTGCGGATATAAGCCT	0.348000													27	139					0	0	1	0	0
ADCK1	57143	broad.mit.edu	37	14	78397944	78397944	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr14:78397944C>G	ENST00000238561.5	+	10	1389	c.1290C>G	c.(1288-1290)ctC>ctG	p.L430L	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Silent_p.L362L	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	437	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		AGATGCTGCTCATCTTGAAGA	0.602000													25	43					0	0	1	0	0
ABCC2	1244	broad.mit.edu	37	10	101567904	101567904	+	Missense_Mutation	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:101567904A>C	ENST00000370449.4	+	13	1846	c.1733A>C	c.(1732-1734)aAg>aCg	p.K578T		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	578	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GATGCACAAAAGGCCTTCACC	0.463000													20	107					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39500145	39500145	+	Splice_Site	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:39500145G>A	ENST00000518318.2	+	9	1444		c.e9-1		POU6F2_ENST00000559001.1_Splice_Site|POU6F2_ENST00000403058.1_Splice_Site			P78424	PO6F2_HUMAN	POU class 6 homeobox 2						central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CATCTCCACAGATCCTCAAAC	0.453000													21	27					0	0	1	0	0
IFNA4	3441	broad.mit.edu	37	9	21186998	21186998	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:21186998G>A	ENST00000421715.1	-	1	600	c.533C>T	c.(532-534)tCa>tTa	p.S178L		NM_021068.2	NP_066546.1	P05014	IFNA4_HUMAN	interferon, alpha 4	178					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17				GBM - Glioblastoma multiforme(5;2.69e-202)|Lung(24;2.26e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGTTTGTTGAAAACGAGAG	0.378000													324	34					0	0	1	0	0
GSDMA	284110	broad.mit.edu	37	17	38130640	38130640	+	Missense_Mutation	SNP	T	T	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:38130640T>G	ENST00000301659.4	+	9	984	c.866T>G	c.(865-867)cTt>cGt	p.L289R		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	289					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTCAGCAAACTTCTAGGGAAG	0.512000													3	20					0	0	1	0	0
SLCO2A1	6578	broad.mit.edu	37	3	133670119	133670119	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:133670119G>A	ENST00000310926.4	-	6	1067	c.794C>T	c.(793-795)tCa>tTa	p.S265L	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.S189L	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	265					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CAATAAAGCTGAAGAAATGAG	0.493000													33	33					0	0	1	0	0
ZNF480	147657	broad.mit.edu	37	19	52824897	52824897	+	Missense_Mutation	SNP	T	T	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:52824897T>A	ENST00000595962.1	+	5	460	c.394T>A	c.(394-396)Ttt>Att	p.F132I	ZNF480_ENST00000490272.1_Silent_p.P46P|ZNF480_ENST00000335090.6_Missense_Mutation_p.F55I|ZNF480_ENST00000334564.7_Missense_Mutation_p.F89I|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TGGAGTATCCTTTCACTTACA	0.378000													14	78					0	0	1	0	0
IMP4	92856	broad.mit.edu	37	2	131103254	131103254	+	Missense_Mutation	SNP	G	G	A	rs146322628	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:131103254G>A	ENST00000259239.3	+	5	1129	c.421G>A	c.(421-423)Gag>Aag	p.E141K	IMP4_ENST00000409935.1_Missense_Mutation_p.E141K	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)	141	Brix.				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					GGTCGTTCACGAGCATCGGGG	0.667000													48	36					0	0	1	0	0
ANKRD50	57182	broad.mit.edu	37	4	125591379	125591379	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:125591379G>A	ENST00000504087.1	-	4	4090	c.3053C>T	c.(3052-3054)tCt>tTt	p.S1018F	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S839F	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1018										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CCAGGCTGCAGACTGCAAAGC	0.488000													8	29					0	0	1	0	0
SLC5A4	6527	broad.mit.edu	37	22	32616910	32616910	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:32616910C>T	ENST00000266086.4	-	14	1776	c.1765G>A	c.(1765-1767)Gaa>Aaa	p.E589K	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	589					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATATTACCTTCTTCAACACCA	0.408000													47	65					0	0	1	0	0
DDX43	55510	broad.mit.edu	37	6	74119057	74119057	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:74119057G>A	ENST00000370336.4	+	10	1424	c.1266G>A	c.(1264-1266)caG>caA	p.Q422Q	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	422	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CAGATAGGCAGACAGTTATGA	0.383000													47	138					0	0	1	0	0
IDH3B	3420	broad.mit.edu	37	20	2639436	2639436	+	Missense_Mutation	SNP	G	G	C	rs140692628		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:2639436G>C	ENST00000380843.4	-	12	1149	c.1119C>G	c.(1117-1119)atC>atG	p.I373M	IDH3B_ENST00000380851.5_Intron|IDH3B_ENST00000488299.1_5'UTR	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	373					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	TGACAGACTTGATGAAGTCGG	0.552000													31	45					0	0	1	0	0
SLC18A2	6571	broad.mit.edu	37	10	119014792	119014792	+	Silent	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:119014792C>A	ENST00000298472.5	+	7	848	c.705C>A	c.(703-705)ggC>ggA	p.G235G	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	235					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CTGCAGTGGGCCCCCCCTTCG	0.572000													33	66					6.33695e-27	6.90727e-27	1	1	0
RYR3	6263	broad.mit.edu	37	15	34130198	34130198	+	Missense_Mutation	SNP	C	C	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:34130198C>A	ENST00000389232.4	+	89	12087	c.12017C>A	c.(12016-12018)cCa>cAa	p.P4006Q	RYR3_ENST00000415757.3_Missense_Mutation_p.P4001Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4006					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAACACATGCCAAACGATTCC	0.463000													78	114					2.46799e-47	2.72186e-47	1	1	0
LONP2	83752	broad.mit.edu	37	16	48286132	48286132	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:48286132C>G	ENST00000285737.4	+	2	417	c.324C>G	c.(322-324)ttC>ttG	p.F108L	LONP2_ENST00000535754.1_Missense_Mutation_p.F108L	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	108	Lon.				misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TATGCCGTTTCCAGATTGTAC	0.502000													17	16					0	0	1	0	0
PLA2G4B	100137049	broad.mit.edu	37	15	42132996	42132996	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:42132996G>C	ENST00000542534.2	+	9	977	c.937G>C	c.(937-939)Gac>Cac	p.D313H	PLA2G4B_ENST00000452633.1_Missense_Mutation_p.D82H|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.D82H|JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.D313H|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.D313H	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GAAAGTCTTTGACCAGGACCT	0.597000													26	93					0	0	1	0	0
BTN3A1	11119	broad.mit.edu	37	6	26408131	26408131	+	Missense_Mutation	SNP	C	C	G	rs140260146		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:26408131C>G	ENST00000289361.6	+	4	1034	c.666C>G	c.(664-666)atC>atG	p.I222M	BTN3A1_ENST00000476549.2_Missense_Mutation_p.I222M|BTN3A1_ENST00000414912.2_Missense_Mutation_p.I170M|BTN3A1_ENST00000425234.2_Missense_Mutation_p.I222M	NM_001145008.1|NM_001145009.1|NM_007048.5	NP_001138480.1|NP_001138481.1|NP_008979.3	O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	222	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CCTGTACCATCAGAAGTTCCC	0.557000													221	16					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33364229	33364229	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr20:33364229C>T	ENST00000374796.2	-	5	2828	c.258G>A	c.(256-258)caG>caA	p.Q86Q	NCOA6_ENST00000359003.2_Silent_p.Q86Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	86	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GCTCCACCTTCTGTACTTTTA	0.453000													19	51					0	0	1	0	0
THOC6	79228	broad.mit.edu	37	16	3076366	3076366	+	Splice_Site	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:3076366G>C	ENST00000326266.8	+	6	659	c.363G>C	c.(361-363)agG>agC	p.R121S	THOC6_ENST00000574549.1_Splice_Site_p.R97S|THOC6_ENST00000575576.1_Splice_Site_p.R97S|THOC6_ENST00000253952.9_Splice_Site_p.R121S	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	121				R -> S (in Ref. 1; BAG36782).	intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CCTTCCCCAGGACCAGCCTGG	0.572000													15	40					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146059006	146059006	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:146059006G>A	ENST00000454497.2	-	21	2863	c.2726C>T	c.(2725-2727)aCt>aTt	p.T909I	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.T974I	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	973							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					AACAGGCACAGTTTCTCTCTC	0.463000													4	133					0	0	1	0	0
ARMCX5	64860	broad.mit.edu	37	X	101857861	101857861	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chrX:101857861G>C	ENST00000604957.1	+	1	3414	c.792G>C	c.(790-792)ttG>ttC	p.L264F	ARMCX5_ENST00000372742.1_Missense_Mutation_p.L264F|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000541409.1_Missense_Mutation_p.L264F|ARMCX5_ENST00000537008.1_Missense_Mutation_p.L264F|ARMCX5_ENST00000536530.1_Missense_Mutation_p.L264F|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000246174.2_Missense_Mutation_p.L264F	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	264							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						TTCGACCTTTGACCAAGATCC	0.483000													30	52					0	0	1	0	0
ACY1	95	broad.mit.edu	37	3	52019910	52019910	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:52019910G>C	ENST00000458031.2	+	7	808	c.577G>C	c.(577-579)Gag>Cag	p.E193Q	ACY1_ENST00000494103.1_Missense_Mutation_p.E103Q|ACY1_ENST00000476854.1_Missense_Mutation_p.E103Q|ACY1_ENST00000476351.1_Missense_Mutation_p.E68Q|ACY1_ENST00000404366.2_Missense_Mutation_p.E103Q|ABHD14A-ACY1_ENST00000463937.1_Missense_Mutation_p.E204Q|ACY1_ENST00000468068.1_3'UTR			Q03154	ACY1_HUMAN	aminoacylase 1	103					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	CAAGGATTCTGAGGGCTACAT	0.552000													9	19					0	0	1	0	0
USP40	55230	broad.mit.edu	37	2	234386116	234386116	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:234386116G>A	ENST00000251722.6	-	32	3747	c.3630C>T	c.(3628-3630)atC>atT	p.I1210I	USP40_ENST00000450966.1_Silent_p.I1222I|USP40_ENST00000427112.2_Silent_p.I1210I			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1210					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CACTGGAGAGGATGTAGCTGC	0.602000													15	45					0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155903521	155903521	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:155903521G>A	ENST00000368320.3	-	2	183	c.158C>T	c.(157-159)tCa>tTa	p.S53L	KIAA0907_ENST00000368321.3_Missense_Mutation_p.S53L|KIAA0907_ENST00000368319.3_Missense_Mutation_p.S53L|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	53										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CAAGGCTCCTGAAGGAGCAGC	0.592000													10	22					0	0	1	0	0
SEMA4B	10509	broad.mit.edu	37	15	90764303	90764303	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:90764303C>G	ENST00000411539.2	+	5	833	c.573C>G	c.(571-573)ttC>ttG	p.F191L	SEMA4B_ENST00000332496.6_Missense_Mutation_p.F191L|SEMA4B_ENST00000379122.3_Missense_Mutation_p.F186L	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACCCGAATTTCAAGTCCACTG	0.572000											OREG0023469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	5					0	0	1	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135820922	135820922	+	Missense_Mutation	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:135820922T>C	ENST00000264977.3	+	11	3618	c.3001T>C	c.(3001-3003)Tat>Cat	p.Y1001H	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.Y265H|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.Y380H	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1001	EF-hand 2.				protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGAGTACTTCTATGAGGAGCA	0.468000													22	29					0	0	1	0	0
ZNF493	284443	broad.mit.edu	37	19	21607722	21607722	+	Missense_Mutation	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:21607722C>T	ENST00000392288.2	+	4	2370	c.2261C>T	c.(2260-2262)tCa>tTa	p.S754L	ZNF493_ENST00000355504.4_Missense_Mutation_p.S626L|CTD-2561J22.3_ENST00000600810.1_Intron	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGGCGGTCTTCACATCTTAGT	0.373000													9	4					0	0	1	0	0
TBRG4	9238	broad.mit.edu	37	7	45142089	45142089	+	Splice_Site	SNP	A	A	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:45142089A>C	ENST00000258770.3	-	7	1299	c.1178T>G	c.(1177-1179)gTa>gGa	p.V393G	TBRG4_ENST00000361278.3_Splice_Site_p.V283G|TBRG4_ENST00000494076.1_Splice_Site_p.V393G|TBRG4_ENST00000395655.4_Splice_Site_p.V283G	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	393					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CTTCTCATGTACCTGGGCAAG	0.597000													24	168					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101885518	101885518	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:101885518G>C	ENST00000289382.3	+	6	1418	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		TACAGCTGTTGATCTACCTCC	0.284000													5	24					0	0	1	0	0
SEMA3B	7869	broad.mit.edu	37	3	50314055	50314055	+	RNA	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:50314055C>T	ENST00000418948.1	+	0	2402							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CCCCTGGAGTCGCGGAGAAAG	0.721000													14	8					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150696118	150696118	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:150696118G>A	ENST00000297494.3	+	8	1258	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	NOS3_ENST00000461406.1_Missense_Mutation_p.E95K|NOS3_ENST00000484524.1_Missense_Mutation_p.E301K|NOS3_ENST00000467517.1_Missense_Mutation_p.E301K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	301	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TGATCCCCCAGAACTCTTCCT	0.657000													44	227					0	0	1	0	0
TBCE	6905	broad.mit.edu	37	1	235611710	235611710	+	Silent	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:235611710C>G	ENST00000543662.1	+	17	1705	c.1599C>G	c.(1597-1599)ctC>ctG	p.L533L	TBCE_ENST00000366601.3_Silent_p.L482L|TBCE_ENST00000406207.1_Silent_p.L482L|TBCE_ENST00000472011.1_3'UTR			Q15813	TBCE_HUMAN	tubulin folding cofactor E	482					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CACGTCTTCTCAAAGTTCCTG	0.403000													28	117					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118624183	118624183	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:118624183T>C	ENST00000336338.5	-	14	1910	c.1845A>G	c.(1843-1845)aaA>aaG	p.K615K		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	615						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCAGTTTCCCTTTTTCATCAA	0.448000													3	87					0	0	1	0	0
NOBOX	135935	broad.mit.edu	37	7	144097329	144097329	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:144097329C>T	ENST00000467773.1	-	5	920	c.921G>A	c.(919-921)caG>caA	p.Q307Q	NOBOX_ENST00000223140.5_Silent_p.Q222Q|NOBOX_ENST00000483238.1_Silent_p.Q307Q	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	307					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCCCCACCGTCTGGGCAATCT	0.552000													30	60					0	0	1	0	0
SOX4	6659	broad.mit.edu	37	6	21595158	21595158	+	Missense_Mutation	SNP	G	G	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:21595158G>T	ENST00000244745.1	+	1	1187	c.393G>T	c.(391-393)agG>agT	p.R131S	SOX4_ENST00000543472.1_Missense_Mutation_p.R131S	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	131					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			ACCGGCCCAGGAAGAAGGTGA	0.642000													5	215					2.0095e-06	2.06313e-06	1	1	0
CHERP	10523	broad.mit.edu	37	19	16653168	16653168	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:16653168C>G	ENST00000546361.2	-	1	173	c.22G>C	c.(22-24)Gat>Cat	p.D8H	CHERP_ENST00000198939.6_Missense_Mutation_p.D8H|CTD-3222D19.2_ENST00000409035.1_Intron	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	8					cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GTCTCACCATCGGGGGGCAGC	0.726000													3	14					0	0	1	0	0
RBM48	84060	broad.mit.edu	37	7	92158136	92158136	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:92158136G>A	ENST00000481551.1	+	1	50	c.9G>A	c.(7-9)tcG>tcA	p.S3S	RBM48_ENST00000265732.5_Silent_p.S3S			Q5RL73	CG064_HUMAN	RNA binding motif protein 48	3							nucleotide binding										AGATGGCGTCGAGCGGCGGGG	0.567000													28	35					0	0	1	0	0
RARS2	57038	broad.mit.edu	37	6	88299660	88299660	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:88299660G>A	ENST00000369536.5	-	1	61	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	6					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding	p.R6C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ATAGCGCGGCGAAAGCCGCAC	0.672000											OREG0031911	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	45	25					0	0	1	0	0
TCF20	6942	broad.mit.edu	37	22	42607575	42607575	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:42607575G>C	ENST00000359486.3	-	1	3873	c.3737C>G	c.(3736-3738)tCt>tGt	p.S1246C	TCF20_ENST00000335626.4_Missense_Mutation_p.S1246C	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTTTTGAGAAGAATGATCCTC	0.483000													21	60					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53062480	53062480	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:53062480G>C	ENST00000276480.7	-	16	2547	c.1864C>G	c.(1864-1866)Cga>Gga	p.R622G		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	622						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCCAGGATTCGATTTTTTTTC	0.413000													16	77					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21128567	21128567	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:21128567G>C	ENST00000261383.3	-	12	1770	c.1771C>G	c.(1771-1773)Caa>Gaa	p.Q591E	DNAH3_ENST00000415178.1_Missense_Mutation_p.Q591E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	591	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTGAAAGTTTGAATCAAAAAA	0.363000													4	58					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20803462	20803462	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr12:20803462C>G	ENST00000359062.3	+	14	2893	c.2853C>G	c.(2851-2853)atC>atG	p.I951M	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	951	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TGGCTGATATCAATGGTCCAG	0.348000													32	31					0	0	1	0	0
FDXR	2232	broad.mit.edu	37	17	72860373	72860373	+	Missense_Mutation	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:72860373G>A	ENST00000455107.2	-	10	1183	c.767C>T	c.(766-768)tCc>tTc	p.S256F	FDXR_ENST00000583917.1_Missense_Mutation_p.S272F|FDXR_ENST00000420580.2_Missense_Mutation_p.S260F|FDXR_ENST00000293195.5_Missense_Mutation_p.S300F|FDXR_ENST00000581530.1_Missense_Mutation_p.S306F|FDXR_ENST00000544854.1_Missense_Mutation_p.S248F|FDXR_ENST00000442102.2_Missense_Mutation_p.S343F|FDXR_ENST00000582944.1_Missense_Mutation_p.S292F|FDXR_ENST00000413947.2_Missense_Mutation_p.S331F			P22570	ADRO_HUMAN	ferredoxin reductase	300					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCAGGCACGGGAGGCCGATGC	0.692000													35	41					0	0	1	0	0
TMEM214	54867	broad.mit.edu	37	2	27260564	27260564	+	Silent	SNP	G	G	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:27260564G>A	ENST00000238788.9	+	9	1208	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	TMEM214_ENST00000404032.3_Silent_p.K337K	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	382						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CTGAGATGAAGAAAGAGGTGA	0.547000													23	98					0	0	1	0	0
KNDC1	85442	broad.mit.edu	37	10	135038330	135038330	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:135038330C>G	ENST00000304613.3	+	30	5207	c.5186C>G	c.(5185-5187)tCc>tGc	p.S1729C	KNDC1_ENST00000368572.2_Missense_Mutation_p.S1731C			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1729					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CACCAGGTCTCCAGCGAGAAG	0.577000													36	10					0	0	1	0	0
GRB10	2887	broad.mit.edu	37	7	50737442	50737442	+	Missense_Mutation	SNP	G	G	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:50737442G>C	ENST00000403097.1	-	6	1243	c.463C>G	c.(463-465)Ccg>Gcg	p.P155A	GRB10_ENST00000402497.1_Missense_Mutation_p.P103A|GRB10_ENST00000406641.1_Missense_Mutation_p.P103A|GRB10_ENST00000401949.1_Missense_Mutation_p.P161A|GRB10_ENST00000398810.2_Missense_Mutation_p.P103A|GRB10_ENST00000407526.1_Missense_Mutation_p.P103A|GRB10_ENST00000402578.1_Missense_Mutation_p.P103A|GRB10_ENST00000357271.5_Missense_Mutation_p.P161A|GRB10_ENST00000398812.2_Missense_Mutation_p.P161A|GRB10_ENST00000335866.3_Missense_Mutation_p.P103A|GRB10_ENST00000439599.1_Missense_Mutation_p.P155A			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	161					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCCTGGCTCGGAGGTAAAGAA	0.592000									Russell-Silver syndrome				34	31					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934886	30934886	+	Silent	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:30934886C>T	ENST00000355537.3	+	2	564	c.417C>T	c.(415-417)ttC>ttT	p.F139F		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.F139F(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAAGCGCTTCCGCTTCAACA	0.637000													207	50					0	0	1	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21828938	21828938	+	RNA	SNP	C	C	T			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:21828938C>T	ENST00000450651.1	-	0	1870																				endometrium(3)|urinary_tract(1)	4						TTTGCAGCCTCGCGCTCAGTC	0.637000													19	22					0	0	1	0	0
RPL3	6122	broad.mit.edu	37	22	39712783	39712783	+	Missense_Mutation	SNP	C	C	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:39712783C>G	ENST00000216146.4	-	4	602	c.429G>C	c.(427-429)aaG>aaC	p.K143N	RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.K91N	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	143					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)					CCAGCTGCTTCTTGCCATCCT	0.547000											OREG0026575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	29	106					0	0	1	0	0
PLA2G7	7941	broad.mit.edu	37	6	46682224	46682224	+	Missense_Mutation	SNP	A	A	G	rs149733733		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:46682224A>G	ENST00000274793.7	-	5	639	c.443T>C	c.(442-444)gTt>gCt	p.V148A	PLA2G7_ENST00000537365.1_Missense_Mutation_p.V148A|PLA2G7_ENST00000538237.1_Missense_Mutation_p.V103A|PLA2G7_ENST00000541026.1_Missense_Mutation_p.V21A	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	148					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			ATGAGAAAAAACAACAAGTGG	0.368000													58	477					0	0	1	0	0
OR4A5	81318	broad.mit.edu	37	11	51412330	51412330	+	Silent	SNP	T	T	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr11:51412330T>C	ENST00000319760.6	-	1	118	c.66A>G	c.(64-66)caA>caG	p.Q22Q		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ATAATGCTTTTTGCACACCAG	0.428000													10	35					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													5	174					0	0	1	0	0
BARHL2	343472	broad.mit.edu	37	1	91182377	91182377	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:91182377delG	ENST00000370445.4	-	1	417	c.376delC	c.(376-378)cagfs	p.Q127fs		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	127	Gln/Pro-rich.					nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CCCAGCTGCTGGGGGggcggc	0.692													2	4	---	---	---	---					
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCGTAAGGCTTTTTTTTTCC	0.433													7	486	---	---	---	---					
LOC100507073	100507073	broad.mit.edu	37	2	66802106	66802107	+	RNA	INS	-	-	CCCCTT	rs70947305	by1000genomes	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:66802106_66802107insCCCCTT	ENST00000433396.1	+	0	136																											GTctgcccccaccccttcccct	0.535													4	4	---	---	---	---					
AC027612.3	0	broad.mit.edu	37	2	91886031	91886032	+	RNA	DEL	AA	AA	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:91886031_91886032delAA	ENST00000436174.1	-	0	777																											CACTGAAATGAAAAAAAAAAAA	0.272													10	56	---	---	---	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr2:131129929_131129934delGACGGG	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_ENST00000347849.3_In_Frame_Del_p.TG271del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													2	4	---	---	---	---					
ANO10	55129	broad.mit.edu	37	3	43647213	43647213	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:43647213delT	ENST00000292246.3	-	2	302	c.132delA	c.(130-132)aaafs	p.K44fs	ANO10_ENST00000414522.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000350459.4_Frame_Shift_Del_p.K44fs|ANO10_ENST00000451430.2_Frame_Shift_Del_p.K44fs|ANO10_ENST00000396091.3_Frame_Shift_Del_p.K44fs	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	44					cell death	chloride channel complex	chloride channel activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						CACCTCCATCTTTTTTTTTAG	0.408													8	76	---	---	---	---					
H1FOO	132243	broad.mit.edu	37	3	129268112	129268113	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr3:129268112_129268113insG	ENST00000324382.2	+	3	652_653	c.647_648insG	c.(646-651)aaggtgfs	p.V217fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.V78fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	217					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						GAGGCTAGGAAGGTGCCCCCCA	0.649													3	5	---	---	---	---					
CRIPAK	285464	broad.mit.edu	37	4	1388441	1388442	+	Frame_Shift_Ins	INS	-	-	CG	rs144787346	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr4:1388441_1388442insCG	ENST00000324803.4	+	1	3102_3103	c.142_143insCG	c.(142-144)atgfs	p.M48fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	48					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACATGCCCATGTGG	0.644													9	1049	---	---	---	---					
PCDHB4	56131	broad.mit.edu	37	5	140502486	140502487	+	Frame_Shift_Ins	INS	-	-	A			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr5:140502486_140502487insA	ENST00000194152.1	+	1	906_907	c.906_907insA	c.(907-909)aaafs	p.K303fs		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		303	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding	p.K305fs*12(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATACTGTTGAAAAAAAAATT	0.366													8	137	---	---	---	---					
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA																							AGAACCCTGACTTCTCTTTCTGCAA	0.488													7	38	---	---	---	---					
WBSCR28	135886	broad.mit.edu	37	7	73280067	73280068	+	Frame_Shift_Ins	INS	-	-	C			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:73280067_73280068insC	ENST00000320531.2	+	3	698_699	c.662_663insC	c.(661-666)cacacgfs	p.T222fs		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	222						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				GCCTTTGAGCACACGACCCAGC	0.629													7	511	---	---	---	---					
BHLHA15	168620	broad.mit.edu	37	7	97842081	97842083	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr7:97842081_97842083delCAG	ENST00000609256.1	+	2	586_588	c.460_462delCAG	c.(460-462)cagdel	p.Q158del	BHLHA15_ENST00000314018.2_In_Frame_Del_p.Q158del			Q7RTS1	BHA15_HUMAN	basic helix-loop-helix family, member a15						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding										CCAGCACTACCAGCAGCAGCAGC	0.665													2	4	---	---	---	---					
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)			8	116	---	---	---	---					
SLC45A4	57210	broad.mit.edu	37	8	142228490	142228492	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr8:142228490_142228492delGCC	ENST00000519067.1	-	4	1397_1399	c.1094_1096delGGC	c.(1093-1098)cggcac>cac	p.R365del	SLC45A4_ENST00000517878.1_In_Frame_Del_p.R416del|SLC45A4_ENST00000433583.2_In_Frame_Del_p.R358del|SLC45A4_ENST00000024061.3_In_Frame_Del_p.R365del			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	416					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGGAACGCGTGCCGCCGCCGCCG	0.675													7	265	---	---	---	---					
FOXD4	2298	broad.mit.edu	37	9	117406	117407	+	Frame_Shift_Ins	INS	-	-	G			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr9:117406_117407insG	ENST00000382500.2	-	1	1010_1011	c.713_714insC	c.(712-714)ccgfs	p.P238fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	238	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		CTGGCTGCGGCGGGGCAGGGGC	0.743													7	213	---	---	---	---					
TFAM	7019	broad.mit.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs78912196		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase I promoter|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	mitochondrial light strand promoter sense binding|protein binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269													8	25	---	---	---	---					
ZMIZ1	57178	broad.mit.edu	37	10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652													48	82	---	---	---	---					
PAK6	56924	broad.mit.edu	37	15	40566413	40566424	+	In_Frame_Del	DEL	CCCCAGTGCAAG	CCCCAGTGCAAG	-	rs74468066		TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:40566413_40566424delCCCCAGTGCAAG	ENST00000560346.1	+	10	2397_2408	c.1814_1825delCCCCAGTGCAAG	c.(1813-1827)tccccagtgcaagcc>tcc	p.PVQA606del	PAK6_ENST00000260404.4_In_Frame_Del_p.PVQA606del|PAK6_ENST00000453867.1_In_Frame_Del_p.PVQA606del|PAK6_ENST00000455577.2_Intron|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_In_Frame_Del_p.PVQA606del|PAK6_ENST00000542403.2_In_Frame_Del_p.PVQA606del			Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	606	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		TTCAGTGACTCCCCAGTGCAAGCCATGAAGAG	0.571											OREG0023057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	87	---	---	---	---					
CRTC3-AS1	101926895	broad.mit.edu	37	15	91190540	91190541	+	RNA	INS	-	-	TTA			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr15:91190540_91190541insTTA	ENST00000559531.1	-	0	294																											ccacaatcctcctccacacccc	0.629													2	4	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372597	74372597	+	RNA	DEL	A	A	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:74372597delA	ENST00000429810.2	-	0	1599																											TTCCCAGGACAAAAAAAAAAA	0.403													4	9	---	---	---	---					
ANKRD11	29123	broad.mit.edu	37	16	89349651	89349651	+	Frame_Shift_Del	DEL	G	G	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr16:89349651delG	ENST00000301030.4	-	9	3759	c.3299delC	c.(3298-3300)tctfs	p.S1100fs	ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.S1100fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1100	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTTTTTTTCAGAGAAGTCTTC	0.463													22	39	---	---	---	---					
C17orf85	55421	broad.mit.edu	37	17	3721809	3721811	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:3721809_3721811delTCC	ENST00000158149.3	-	11	1111_1113	c.216_218delGGA	c.(214-219)gaggaa>gaa	p.72_73EE>E	C17orf85_ENST00000389005.4_In_Frame_Del_p.352_353EE>E			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	352							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ctcttcctcttcctcctcctcct	0.507													9	169	---	---	---	---					
WRAP53	55135	broad.mit.edu	37	17	7606722	7606722	+	Frame_Shift_Del	DEL	C	C	-	rs7640	byFrequency	TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr17:7606722delC	ENST00000316024.5	+	10	3913	c.1565delC	c.(1564-1566)gcgfs	p.A522fs	WRAP53_ENST00000396463.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000534050.1_Frame_Shift_Del_p.A489fs|WRAP53_ENST00000457584.2_Frame_Shift_Del_p.A522fs|WRAP53_ENST00000431639.2_Frame_Shift_Del_p.A522fs			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	522			A -> G (in dbSNP:rs7640).		positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding	p.A522G(1)		endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						TGTGGGGGGGCGCCAGACTCC	0.582													7	179	---	---	---	---					
ZFP36	7538	broad.mit.edu	37	19	39898948	39898950	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr19:39898948_39898950delCAC	ENST00000597629.1	+	2	682_684	c.608_610delCAC	c.(607-612)tcacca>tca	p.P207del	ZFP36_ENST00000248673.3_In_Frame_Del_p.P201del			P26651	TTP_HUMAN	ZFP36 ring finger protein	201					positive regulation of nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding			large_intestine(1)|lung(5)|pancreas(1)	7	all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CGCCGGACCTCACCACCACCACC	0.685													8	725	---	---	---	---					
COL6A2	1292	broad.mit.edu	37	21	47538527	47538527	+	Splice_Site	DEL	G	G	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr21:47538527delG	ENST00000300527.4	+	13	1220		c.e13-1		COL6A2_ENST00000357838.4_Splice_Site|COL6A2_ENST00000310645.5_Splice_Site|COL6A2_ENST00000409416.1_Splice_Site|COL6A2_ENST00000397763.1_Splice_Site	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2						axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AACCCTTCCAGGGGGACCCTG	0.687													21	25	---	---	---	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-GV-A3JZ-01A-11D-A21A-08	TCGA-GV-A3JZ-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	074fc904-0a0e-4114-b569-89d51e7a89db	bc976042-8abc-4c49-b0f4-abd1c84ef41b	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													9	163	---	---	---	---					
