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
LINGO1	84894	broad.mit.edu	37	15	77906613	77906613	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:77906613C>T	ENST00000355300.6	-	2	1810	c.1636G>A	c.(1636-1638)Gcc>Acc	p.A546T	LINGO1_ENST00000561030.1_Missense_Mutation_p.A540T	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	546					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGCACAGTGGCGCGGGTGCTG	0.617000													18	97					0	0	1	0	0
DNMT1	1786	broad.mit.edu	37	19	10250385	10250385	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:10250385G>A	ENST00000340748.4	-	33	4102	c.3867C>T	c.(3865-3867)cgC>cgT	p.R1289R	DNMT1_ENST00000540357.1_Silent_p.R1289R|DNMT1_ENST00000359526.4_Silent_p.R1305R			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1289	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GATAGCCCATGCGGACCAGGC	0.642000													8	15					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123654610	123654610	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:123654610G>A	ENST00000422452.2	-	18	3121	c.3058C>T	c.(3058-3060)Ccc>Tcc	p.P1020S	TENM1_ENST00000371130.3_Missense_Mutation_p.P1020S	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		AAGCTGGAGGGAATGGGAATT	0.453000													9	42					0	0	1	0	0
ZFP36	7538	broad.mit.edu	37	19	39898406	39898406	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:39898406C>A	ENST00000597629.1	+	2	140	c.66C>A	c.(64-66)gaC>gaA	p.D22E	ZFP36_ENST00000248673.3_Missense_Mutation_p.D16E|ZFP36_ENST00000594045.1_3'UTR			P26651	TTP_HUMAN	ZFP36 ring finger protein	16					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)			TGAGCCCTGACGTGCCCGTGC	0.672000													5	278					2.0095e-06	2.12469e-06	1	1	0
CPB2	1361	broad.mit.edu	37	13	46629916	46629916	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr13:46629916G>A	ENST00000181383.4	-	10	1084	c.1068C>T	c.(1066-1068)ggC>ggT	p.G356G	CPB2_ENST00000439329.3_Silent_p.G319G|CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000415033.2_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	356					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTGAGCCATGGCCATGTGTAT	0.338000													8	43					0	0	1	0	0
ATP8B1	5205	broad.mit.edu	37	18	55328606	55328606	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr18:55328606G>A	ENST00000536015.1	-	22	2626	c.2507C>T	c.(2506-2508)aCc>aTc	p.T836I	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T836I|RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA	NM_005603.4	NP_005594.1	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	836					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTTACTTTGGGTCCGCATCCG	0.473000													17	67					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36752352	36752352	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:36752352G>A	ENST00000354618.5	+	4	745	c.521G>A	c.(520-522)cGc>cAc	p.R174H	THRAP3_ENST00000469141.2_Missense_Mutation_p.R174H	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	174	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTTCTAAGCGCAAGTCTGCA	0.517000			T	USP6	aneurysmal bone cysts								5	368					0	0	1	0	0
DCTN1	1639	broad.mit.edu	37	2	74598256	74598256	+	Silent	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:74598256T>C	ENST00000361874.3	-	9	1010	c.693A>G	c.(691-693)ctA>ctG	p.L231L	DCTN1_ENST00000409240.1_Silent_p.L194L|DCTN1_ENST00000409567.3_Silent_p.L211L|DCTN1_ENST00000407639.2_Silent_p.L97L|DCTN1_ENST00000409868.1_Silent_p.L214L|DCTN1_ENST00000409438.1_Silent_p.L97L|DCTN1_ENST00000394003.3_Silent_p.L224L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	231					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TCAGGGTCTCTAGTTTCTCCT	0.547000													110	338					0	0	1	0	0
CFAP54	144535	broad.mit.edu	37	12	97137545	97137545	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:97137545T>C	ENST00000524981.3	+	21	2767	c.2767T>C	c.(2767-2769)Tct>Cct	p.S923P				Q6ZTY8	CL063_HUMAN		897										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TGAATTTATTTCTCCTCAATC	0.353000													18	23					0	0	1	0	0
KCNF1	3754	broad.mit.edu	37	2	11053054	11053054	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:11053054G>A	ENST00000295082.1	+	1	992	c.502G>A	c.(502-504)Gtc>Atc	p.V168I		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	168						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCAGAAGTGCGTCTGGAAGTT	0.692000													4	68					0	0	1	0	0
TAS2R30	259293	broad.mit.edu	37	12	11285960	11285960	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:11285960C>T	ENST00000539585.1	-	1	1283	c.884G>A	c.(883-885)cGg>cAg	p.R295Q	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CCTCACATGCCGCAAAACTGA	0.428000													33	192					0	0	1	0	0
ANXA6	309	broad.mit.edu	37	5	150497394	150497394	+	Nonsense_Mutation	SNP	A	A	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:150497394A>C	ENST00000354546.5	-	19	1670	c.1443T>G	c.(1441-1443)taT>taG	p.Y481*	ANXA6_ENST00000356496.5_Nonsense_Mutation_p.Y481*|ANXA6_ENST00000523714.1_Nonsense_Mutation_p.Y449*|ANXA6_ENST00000377751.5_Nonsense_Mutation_p.Y138*|ANXA6_ENST00000521512.1_Nonsense_Mutation_p.Y274*	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	481						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGACTTGTGATAGTCTGAGG	0.572000													7	19					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													3	46					0	0	1	0	0
ZNF292	23036	broad.mit.edu	37	6	87964638	87964638	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:87964638G>C	ENST00000369577.3	+	8	1334	c.1291G>C	c.(1291-1293)Gag>Cag	p.E431Q	ZNF292_ENST00000339907.4_Missense_Mutation_p.E426Q	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TTTACGCTGTGAGCTGTTACT	0.393000													14	26					0	0	1	0	0
ARHGEF17	9828	broad.mit.edu	37	11	73020819	73020819	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:73020819C>G	ENST00000263674.3	+	1	1486	c.1136C>G	c.(1135-1137)tCg>tGg	p.S379W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	379					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						AGCTTTCCCTCGTACCTGGCC	0.642000													26	63					0	0	1	0	0
RIPPLY3	53820	broad.mit.edu	37	21	38390309	38390309	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:38390309G>T	ENST00000329553.2	+	4	585	c.375G>T	c.(373-375)gaG>gaT	p.E125D	RIPPLY3_ENST00000485272.1_3'UTR	NM_018962.2	NP_061835.1			ripply transcriptional repressor 3																		AAGCTGAAGAGCCAGAGGAAG	0.597000													14	21					0.000151284	0.000156958	1	1	0
EPB41L2	2037	broad.mit.edu	37	6	131199330	131199330	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:131199330G>A	ENST00000337057.3	-	14	2138	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C	EPB41L2_ENST00000529208.1_Intron|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000530757.1_Missense_Mutation_p.R52C|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000368128.2_Missense_Mutation_p.R653C|EPB41L2_ENST00000530481.1_Intron|EPB41L2_ENST00000527411.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000524581.1_Missense_Mutation_p.R31C	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	653	Spectrin--actin-binding.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATAAAATTGCGCTTGAGTTCA	0.458000													17	48					0	0	1	0	0
LRP5	4041	broad.mit.edu	37	11	68115508	68115508	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:68115508G>A	ENST00000294304.7	+	2	391	c.285G>A	c.(283-285)acG>acA	p.T95T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	95	Beta-propeller 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGAACCAGACGGGGGCCGCCG	0.632000													4	204					0	0	1	0	0
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181	by1000genomes	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303000													6	46					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407581	75407581	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:75407581C>T	ENST00000394810.2	-	4	1978	c.1829G>A	c.(1828-1830)cGc>cAc	p.R610H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386H|SYNPO2L_ENST00000372872.4_Intron	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	610	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCGCTGCTCGCGAGCGCTGGG	0.706000													20	89					0	0	1	0	0
HIST3H3	8290	broad.mit.edu	37	1	228612911	228612911	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:228612911G>A	ENST00000366696.1	-	1	115	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_003493.2	NP_003484.1	Q16695	H31T_HUMAN	histone cluster 3, H3	39					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				GTAGCGGTGCGGCTTCTTCAC	0.672000													23	90					0	0	1	0	0
NOTCH2	4853	broad.mit.edu	37	1	120458296	120458296	+	Missense_Mutation	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:120458296C>G	ENST00000256646.2	-	34	7268	c.7049G>C	c.(7048-7050)aGt>aCt	p.S2350T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2350					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAAGCCACACTGGGCAAACG	0.627000			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				44	144					0	0	1	0	0
FOXM1	2305	broad.mit.edu	37	12	2983350	2983350	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:2983350C>A	ENST00000342628.2	-	2	408	c.295G>T	c.(295-297)Ggc>Tgc	p.G99C	FOXM1_ENST00000361953.3_Missense_Mutation_p.G99C|FOXM1_ENST00000359843.3_Missense_Mutation_p.G99C	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	99					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CCACTACTGCCACTCTCTTTT	0.537000													48	73					1.47857e-17	1.62545e-17	1	1	0
GNA11	2767	broad.mit.edu	37	19	3114962	3114962	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:3114962G>A	ENST00000078429.4	+	4	739	c.497G>A	c.(496-498)cGc>cAc	p.R166H		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	166					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GACGTTGACCGCATCGCCACC	0.677000			Mis		uveal melanoma								4	150					0	0	1	0	0
ZBTB11	27107	broad.mit.edu	37	3	101370490	101370490	+	Silent	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:101370490A>G	ENST00000312938.4	-	11	3262	c.2682T>C	c.(2680-2682)gcT>gcC	p.A894A		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	894					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CATCAGCCCAAGCTACTCCAC	0.423000													18	66					0	0	1	0	0
PFKM	5213	broad.mit.edu	37	12	48535703	48535703	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:48535703A>G	ENST00000340802.6	+	19	1944	c.1720A>G	c.(1720-1722)Aca>Gca	p.T574A	PFKM_ENST00000551804.1_Missense_Mutation_p.T472A|PFKM_ENST00000359794.5_Missense_Mutation_p.T503A|PFKM_ENST00000395233.2_Missense_Mutation_p.T472A|PFKM_ENST00000312352.7_Missense_Mutation_p.T503A|PFKM_ENST00000547587.1_Missense_Mutation_p.T503A	NM_001166686.1	NP_001160158.1	P08237	K6PF_HUMAN	phosphofructokinase, muscle	503					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						tTAGGCTTACACAGGGGGCCT	0.547000													22	42					0	0	1	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672669	141672669	+	Missense_Mutation	SNP	C	C	T	rs139085046	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:141672669C>T	ENST00000547270.1	-	1	904	c.821G>A	c.(820-822)cGc>cAc	p.R274H		NM_176817.4	NP_789787.4	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	274					sensory perception of taste	integral to membrane	G-protein coupled receptor activity	p.R274H(1)		NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					TATTTTGTCGCGCCACAGAAT	0.502000													18	81					0	0	1	0	0
TSPYL5	85453	broad.mit.edu	37	8	98289480	98289480	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr8:98289480G>A	ENST00000322128.3	-	1	696	c.593C>T	c.(592-594)aCg>aTg	p.T198M		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	198					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GCTGCCTTCCGTCGCTGGGGG	0.622000													27	86					0	0	1	0	0
PYDC1	260434	broad.mit.edu	37	16	31228091	31228091	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:31228091G>A	ENST00000302964.3	-	1	589	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	TRIM72_ENST00000322122.3_Intron	NM_152901.2	NP_690865.1	Q8WXC3	PYDC1_HUMAN	PYD (pyrin domain) containing 1	87	DAPIN.				innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|positive regulation of interleukin-1 beta secretion|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex|nucleus	cysteine-type endopeptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CACGCAGCCCGCTGCAGCCGT	0.677000													22	61					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550638	8550638	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:8550638C>T	ENST00000348943.3	+	15	1441	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D	HNRNPM_ENST00000325495.4_Silent_p.D442D	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	442	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGGTCATGGACCGCATGGGCT	0.711000													52	165					0	0	1	0	0
LST1	7940	broad.mit.edu	37	6	31556510	31556510	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:31556510G>A	ENST00000376111.4	+	5	588	c.185G>A	c.(184-186)aGc>aAc	p.S62N	LST1_ENST00000376110.3_3'UTR|LST1_ENST00000438075.2_3'UTR|LST1_ENST00000376096.1_3'UTR|LST1_ENST00000376090.2_3'UTR|LST1_ENST00000376093.2_3'UTR|LST1_ENST00000418507.2_3'UTR|LST1_ENST00000396101.3_3'UTR|LST1_ENST00000376086.3_3'UTR|LST1_ENST00000376089.2_3'UTR|LST1_ENST00000339530.4_3'UTR|LST1_ENST00000376099.1_3'UTR|LST1_ENST00000211921.7_3'UTR|LST1_ENST00000303757.8_3'UTR|LST1_ENST00000376102.3_3'UTR			O00453	LST1_HUMAN	leukocyte specific transcript 1	0					cell morphogenesis|dendrite development|immune response|negative regulation of lymphocyte proliferation|regulation of cell shape	Golgi membrane|integral to membrane	protein binding			large_intestine(1)	1						CTGTGGTCCAGCCAGTAAAAA	0.532000													7	38					0	0	1	0	0
NLRC4	58484	broad.mit.edu	37	2	32474685	32474685	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:32474685G>A	ENST00000404025.2	-	5	2736	c.2248C>T	c.(2248-2250)Cgg>Tgg	p.R750W	NLRC4_ENST00000402280.1_Missense_Mutation_p.R750W|NLRC4_ENST00000360906.5_Missense_Mutation_p.R750W|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	750					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CCCGGCAGCCGTTGATTCTGT	0.393000													5	286					0	0	1	0	0
RHAG	6005	broad.mit.edu	37	6	49585874	49585874	+	Silent	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:49585874C>G	ENST00000371175.4	-	3	425	c.399G>C	c.(397-399)ctG>ctC	p.L133L	RHAG_ENST00000229810.7_Silent_p.L133L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	133					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCGTTTTTCCCAGGACAGCTC	0.393000													3	36					0	0	1	0	0
ARHGEF1	9138	broad.mit.edu	37	19	42396787	42396787	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:42396787C>T	ENST00000599846.1	+	7	606	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R128W|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R176W|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R143W|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R161W			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	161	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		CCGTTCCAAGCGGCTCATGGG	0.687000													4	62					0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139410452	139410452	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:139410452G>T	ENST00000277541.6	-	10	1725	c.1650C>A	c.(1648-1650)taC>taA	p.Y550*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	550	EGF-like 14; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACACACAGGTGTAAGTGTTGG	0.632000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)			7	49					0.00198382	0.00202033	1	1	0
SLC46A1	113235	broad.mit.edu	37	17	26731758	26731758	+	Silent	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:26731758C>A	ENST00000440501.1	-	2	1052	c.957G>T	c.(955-957)ctG>ctT	p.L319L	SLC46A1_ENST00000321666.5_Silent_p.L319L|SLC46A1_ENST00000584729.1_5'UTR	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	319					cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)	TCAGGGCCAGCAGGCTGGTGA	0.562000													14	35					7.93312e-07	8.44165e-07	1	1	0
OR2T2	401992	broad.mit.edu	37	1	248616186	248616186	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:248616186G>T	ENST00000342927.3	+	1	110	c.88G>T	c.(88-90)Gca>Tca	p.A30S		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTTCTCTTTGCAATAGTCTT	0.522000													33	246					3.57733e-08	3.85608e-08	1	1	0
SAFB	6294	broad.mit.edu	37	19	5664419	5664419	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:5664419C>G	ENST00000292123.5	+	17	2410	c.2303C>G	c.(2302-2304)tCa>tGa	p.S768*	SAFB_ENST00000592224.1_Nonsense_Mutation_p.S767*|SAFB_ENST00000538656.1_Nonsense_Mutation_p.S610*|SAFB_ENST00000454510.1_Nonsense_Mutation_p.S699*|SAFB_ENST00000588852.1_Nonsense_Mutation_p.S768*|SAFB_ENST00000433404.1_Nonsense_Mutation_p.S598*	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	768	Arg-rich.|Interaction with POLR2A.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		AGAGAAGGTTCAAGGTCAATG	0.458000													14	46					0	0	1	0	0
GK	2710	broad.mit.edu	37	X	30714164	30714164	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:30714164G>T	ENST00000378943.3	+	7	737	c.558G>T	c.(556-558)ttG>ttT	p.L186F	GK_ENST00000378946.3_Missense_Mutation_p.L186F|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Missense_Mutation_p.L186F	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	186					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CCTAGAGTTTGACAGGAGGAG	0.353000													8	25					0.00307968	0.00311724	1	1	0
TTLL4	9654	broad.mit.edu	37	2	219603352	219603352	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:219603352C>T	ENST00000392102.1	+	3	1293	c.953C>T	c.(952-954)tCc>tTc	p.S318F	TTLL4_ENST00000457313.1_Missense_Mutation_p.S153F|TTLL4_ENST00000442769.1_Missense_Mutation_p.S318F|TTLL4_ENST00000258398.4_Missense_Mutation_p.S318F	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	318					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GAGCCACTTTCCTGTGCTCTG	0.522000													31	83					0	0	1	0	0
CYTH3	9265	broad.mit.edu	37	7	6210871	6210871	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:6210871C>T	ENST00000350796.3	-	7	660	c.524G>A	c.(523-525)cGc>cAc	p.R175H	CYTH3_ENST00000488964.1_5'UTR|CYTH3_ENST00000396741.2_Missense_Mutation_p.R90H	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	175	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						CAGGCAGTAGCGAGAAGCGAA	0.622000													31	136					0	0	1	0	0
DIRAS3	9077	broad.mit.edu	37	1	68512804	68512804	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:68512804G>A	ENST00000370981.1	-	4	813	c.177C>T	c.(175-177)agC>agT	p.S59S	DIRAS3_ENST00000395201.1_Silent_p.S59S|GNG12-AS1_ENST00000413628.1_RNA|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	59					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGAAGTTGCCGCTCGCCCACT	0.587000													4	207					0	0	1	0	0
BOD1L1	259282	broad.mit.edu	37	4	13604617	13604617	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:13604617G>A	ENST00000040738.5	-	10	4042	c.3907C>T	c.(3907-3909)Ctg>Ttg	p.L1303L		NM_148894.2	NP_683692.2	Q8NFC6	BOD1L_HUMAN	biorientation of chromosomes in cell division 1-like 1	1303							DNA binding										TTGTCAAACAGAGGAATTACA	0.463000													16	37					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237829886	237829886	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:237829886G>A	ENST00000366574.2	+	57	8828	c.8511G>A	c.(8509-8511)ctG>ctA	p.L2837L	RYR2_ENST00000542537.1_Silent_p.L2821L|RYR2_ENST00000360064.6_Silent_p.L2835L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2837	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAGAGACCTGCATGTAAGTA	0.363000													9	15					0	0	1	0	0
GPR116	221395	broad.mit.edu	37	6	46826415	46826415	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:46826415C>T	ENST00000283296.7	-	17	3513	c.3225G>A	c.(3223-3225)caG>caA	p.Q1075Q	GPR116_ENST00000265417.7_Silent_p.Q1075Q|GPR116_ENST00000545669.1_Silent_p.Q504Q|GPR116_ENST00000362015.4_Silent_p.Q1075Q|GPR116_ENST00000456426.2_Silent_p.Q933Q	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1075				Q -> R (in Ref. 5; AL832125).	neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AGCGATTGTCCTGGATGGCAG	0.537000													27	53					0	0	1	0	0
KAT2A	2648	broad.mit.edu	37	17	40267773	40267773	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:40267773C>T	ENST00000225916.5	-	12	1896	c.1843G>A	c.(1843-1845)Gac>Aac	p.D615N		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	615	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GCGTACTCGTCGGCGTAGGTG	0.572000													25	98					0	0	1	0	0
PTPRB	5787	broad.mit.edu	37	12	70963656	70963656	+	Missense_Mutation	SNP	T	T	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:70963656T>A	ENST00000334414.6	-	14	3477	c.3433A>T	c.(3433-3435)Aac>Tac	p.N1145Y	PTPRB_ENST00000551525.1_Missense_Mutation_p.N1144Y|PTPRB_ENST00000550857.1_Missense_Mutation_p.N837Y|PTPRB_ENST00000261266.5_Missense_Mutation_p.N927Y|PTPRB_ENST00000550358.1_Missense_Mutation_p.N1057Y|PTPRB_ENST00000451516.2_Missense_Mutation_p.N837Y|PTPRB_ENST00000538708.1_Missense_Mutation_p.N927Y	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	927	Fibronectin type-III 13.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GGAGTCCAGTTCACCGTCAGG	0.438000													10	45					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112486365	112486365	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:112486365T>C	ENST00000230538.7	-	13	2062	c.1665A>G	c.(1663-1665)atA>atG	p.I555M	RP1-142L7.5_ENST00000585373.1_RNA|LAMA4_ENST00000522006.1_Missense_Mutation_p.I548M|LAMA4_ENST00000389463.4_Missense_Mutation_p.I548M|LAMA4_ENST00000424408.2_Missense_Mutation_p.I548M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	555	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCCTTACCTTTATTATATCAT	0.418000													20	44					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47817943	47817943	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:47817943C>T	ENST00000359568.5	+	23	4569	c.4462C>T	c.(4462-4464)Cgg>Tgg	p.R1488W	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1488					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGCAGCCGAGCGGGAGCACGA	0.706000													3	7					0	0	1	0	0
TENM1	10178	broad.mit.edu	37	X	123514615	123514615	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:123514615G>A	ENST00000422452.2	-	32	8033	c.7970C>T	c.(7969-7971)gCc>gTc	p.A2657V	TENM1_ENST00000371130.3_Missense_Mutation_p.A2650V|STAG2_ENST00000469481.1_Intron	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1			teneurin transmembrane protein 1																		GCGCTGTCTGGCAATCTCCAA	0.542000													5	195					0	0	1	0	0
USP33	23032	broad.mit.edu	37	1	78200091	78200091	+	Silent	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:78200091A>G	ENST00000370793.1	-	8	904	c.558T>C	c.(556-558)ggT>ggC	p.G186G	USP33_ENST00000370794.3_Silent_p.G155G|USP33_ENST00000357428.1_Silent_p.G186G|USP33_ENST00000370792.3_Silent_p.G186G	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	186					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						TATTTTTCAAACCTGTAAGAC	0.264000													3	8					0	0	1	0	0
SVIL	6840	broad.mit.edu	37	10	29751238	29751238	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:29751238G>A	ENST00000375398.2	-	38	6819	c.6370C>T	c.(6370-6372)Cac>Tac	p.H2124Y	SVIL_ENST00000355867.4_Missense_Mutation_p.H2124Y|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.H1038Y|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.H1698Y			O95425	SVIL_HUMAN	supervillin	2124					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TCCTCTCTGTGCTCCCAGCTG	0.498000													28	81					0	0	1	0	0
EOGT	285203	broad.mit.edu	37	3	69053575	69053575	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:69053575G>A	ENST00000383701.3	-	8	1316	c.574C>T	c.(574-576)Cgt>Tgt	p.R192C	EOGT_ENST00000540955.1_5'UTR|EOGT_ENST00000540764.1_Missense_Mutation_p.R91C|EOGT_ENST00000295571.5_Missense_Mutation_p.R192C	NM_001278689.1	NP_001265618.1			EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase																		GTCAATGTACGGATGTCAAGT	0.388000													3	42					0	0	1	0	0
ABCA3	21	broad.mit.edu	37	16	2334301	2334301	+	Missense_Mutation	SNP	C	C	T	rs141745439	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:2334301C>T	ENST00000301732.5	-	25	4541	c.3841G>A	c.(3841-3843)Gcc>Acc	p.A1281T	ABCA3_ENST00000382381.3_Missense_Mutation_p.A1223T	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1281					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CAGTAGTGGGCGGCGACCTCG	0.627000													17	50					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49160788	49160788	+	Missense_Mutation	SNP	C	C	T	rs144783830	by1000genomes	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:49160788C>T	ENST00000418109.1	-	27	4165	c.4001G>A	c.(4000-4002)cGg>cAg	p.R1334Q	LAMB2_ENST00000305544.4_Missense_Mutation_p.R1334Q	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1334	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGGGCATGCCGGATGCTGTC	0.577000													22	93					0	0	1	0	0
ZNF692	55657	broad.mit.edu	37	1	249151461	249151461	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:249151461G>A	ENST00000451251.1	-	4	807	c.462C>T	c.(460-462)tcC>tcT	p.S154S	ZNF692_ENST00000427146.1_Silent_p.S149S|ZNF692_ENST00000366469.5_Silent_p.S149S|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000306601.4_Silent_p.S149S|ZNF692_ENST00000366471.3_Silent_p.S149S	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCGTGGCCTCGGAACACCAAC	0.537000													24	68					0	0	1	0	0
C15orf32	145858	broad.mit.edu	37	15	93043602	93043602	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:93043602G>T	ENST00000333334.2	+	3	1004	c.509G>T	c.(508-510)aGa>aTa	p.R170I	C15orf32_ENST00000556865.1_3'UTR	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	170										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CATTTAATAAGATACAGAAAC	0.453000													18	115					7.45023e-12	8.08325e-12	1	1	0
CHL1	10752	broad.mit.edu	37	3	402045	402045	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:402045A>G	ENST00000256509.2	+	12	1886	c.1244A>G	c.(1243-1245)tAc>tGc	p.Y415C	CHL1_ENST00000397491.2_Missense_Mutation_p.Y399C	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	399	Ig-like C2-type 4.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACTGCTGTGTACCAGTGTGAA	0.428000													31	95					0	0	1	0	0
UBQLN3	50613	broad.mit.edu	37	11	5530115	5530115	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:5530115C>T	ENST00000311659.4	-	2	821	c.674G>A	c.(673-675)cGt>cAt	p.R225H	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	225										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAGGGTTACGTAAAAACTC	0.498000													28	72					0	0	1	0	0
NFE2L2	4780	broad.mit.edu	37	2	178098956	178098956	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:178098956A>G	ENST00000397062.3	-	2	643	c.89T>C	c.(88-90)cTt>cCt	p.L30P	NFE2L2_ENST00000464747.1_Missense_Mutation_p.L14P|NFE2L2_ENST00000446151.2_Missense_Mutation_p.L14P|NFE2L2_ENST00000423513.1_Missense_Mutation_p.L14P|NFE2L2_ENST00000397063.4_Missense_Mutation_p.L14P	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	30					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.L30R(2)|p.L30H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTTACTCCAAGATCTATATC	0.363000			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)			8	24					0	0	1	0	0
HNRNPM	4670	broad.mit.edu	37	19	8550642	8550642	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:8550642A>G	ENST00000348943.3	+	15	1445	c.1213A>G	c.(1213-1215)Atg>Gtg	p.M405V	HNRNPM_ENST00000325495.4_Missense_Mutation_p.M444V	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	444	27 X 6 AA repeats of [GEVSTPAN]-[ILMV]- [DE]-[RH]-[MLVI]-[GAV].				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						CATGGACCGCATGGGCTCCGT	0.706000													48	160					0	0	1	0	0
C2orf68	388969	broad.mit.edu	37	2	85836692	85836692	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:85836692G>A	ENST00000306336.5	-	3	288	c.244C>T	c.(244-246)Cgc>Tgc	p.R82C	USP39_ENST00000459775.1_Intron	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	82										breast(1)|central_nervous_system(1)|endometrium(1)	3						TCTGGGTTGCGTGGGTGGGCA	0.532000													49	145					0	0	1	0	0
FAM86B3P	286042	broad.mit.edu	37	8	8095990	8095990	+	RNA	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr8:8095990C>G	ENST00000523017.1	-	0	608																											CCAGGAGCCCCGAGACCTGCA	0.647000													3	13					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34668542	34668542	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:34668542G>A	ENST00000290200.2	+	7	966	c.858G>A	c.(856-858)tcG>tcA	p.S286S		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						TTCCATTGTCGGATGAGAATG	0.463000													49	131					0	0	1	0	0
TCEB3	6924	broad.mit.edu	37	1	24082410	24082410	+	Silent	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:24082410T>C	ENST00000418390.2	+	8	2218	c.1947T>C	c.(1945-1947)taT>taC	p.Y649Y		NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	649	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		CCGAAGAGTATGAGTCGTGGC	0.463000													54	47					0	0	1	0	0
NUP98	4928	broad.mit.edu	37	11	3800201	3800201	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:3800201C>A	ENST00000324932.7	-	4	677	c.257G>T	c.(256-258)gGa>gTa	p.G86V	NUP98_ENST00000359171.4_Missense_Mutation_p.G86V|NUP98_ENST00000397004.4_Missense_Mutation_p.G86V|NUP98_ENST00000355260.3_Missense_Mutation_p.G86V|NUP98_ENST00000397007.4_Missense_Mutation_p.G86V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	86	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ATTTGCTGTTCCTGTTGACGT	0.483000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								18	64					0.0332995	0.0335013	1	1	0
SOX9	6662	broad.mit.edu	37	17	70120487	70120487	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:70120487C>A	ENST00000245479.2	+	3	1861	c.1489C>A	c.(1489-1491)Cac>Aac	p.H497N		NM_000346.3	NP_000337.1	P48436	SOX9_HUMAN	SRY (sex determining region Y)-box 9	497					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAGCCCCCAGCACTGGGAACA	0.597000													21	80					4.26978e-12	4.66305e-12	1	1	0
HSPG2	3339	broad.mit.edu	37	1	22213790	22213790	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:22213790G>A	ENST00000374695.3	-	9	1075	c.996C>T	c.(994-996)tgC>tgT	p.C332C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	332	LDL-receptor class A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTCCATTCCCGCAGGGGAACT	0.647000													4	106					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101918550	101918550	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:101918550G>A	ENST00000437600.4	+	17	1829	c.1477G>A	c.(1477-1479)Gag>Aag	p.E493K	CUX1_ENST00000393824.3_Missense_Mutation_p.E456K|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000292538.4_Missense_Mutation_p.E495K|CUX1_ENST00000547394.2_Missense_Mutation_p.E479K|CUX1_ENST00000425244.2_Missense_Mutation_p.E449K	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	311					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGCCCTCCCAGAGGGCCAGGT	0.647000													25	111					0	0	1	0	0
IRX1	79192	broad.mit.edu	37	5	3599817	3599817	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:3599817C>T	ENST00000302006.3	+	2	807	c.755C>T	c.(754-756)cCg>cTg	p.P252L	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	252						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCCGAGGCTCCGCACGCGCCC	0.652000													14	41					0	0	1	0	0
FABP6	2172	broad.mit.edu	37	5	159656577	159656577	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:159656577G>A	ENST00000393980.4	+	4	306	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	FABP6_ENST00000402432.3_Missense_Mutation_p.G5S|FABP6_ENST00000393982.1_Missense_Mutation_p.G54S	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTTTCACCGGCAAGTTCGA	0.537000													4	204					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149524048	149524048	+	RNA	SNP	G	G	C	rs113242894		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:149524048G>C	ENST00000378016.2	+	0	14770							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGACTGTCAGGGTGAGATGTG	0.602000													73	115					0	0	1	0	0
LRRC32	2615	broad.mit.edu	37	11	76371962	76371962	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:76371962C>T	ENST00000407242.2	-	3	917	c.675G>A	c.(673-675)ctG>ctA	p.L225L	LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.L225L|LRRC32_ENST00000260061.5_Silent_p.L225L|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	225						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TGTTGCAGCTCAGGTCTAGCA	0.612000													23	74					0	0	1	0	0
HPR	3250	broad.mit.edu	37	16	72108202	72108202	+	Silent	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:72108202C>G	ENST00000540303.2	+	3	143	c.111C>G	c.(109-111)ccC>ccG	p.P37P	HPR_ENST00000356967.5_Silent_p.P37P|HPR_ENST00000561690.1_Silent_p.P37P|HPR_ENST00000228226.8_Silent_p.P74P	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	37	Sushi.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				TCCCGAAGCCCCCTGAGATTG	0.478000													19	83					0	0	1	0	0
TP53BP1	7158	broad.mit.edu	37	15	43783898	43783898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:43783898C>A	ENST00000263801.3	-	4	577	c.325G>T	c.(325-327)Gag>Tag	p.E109*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E114*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E114*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E114*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	109					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGTAACTGCTCAATGACCTGA	0.378000								Other conserved DNA damage response genes					94	158					5.66435e-50	6.31062e-50	1	1	0
KAZN	23254	broad.mit.edu	37	1	15287307	15287307	+	Silent	SNP	C	C	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:15287307C>G	ENST00000376030.2	+	2	648	c.354C>G	c.(352-354)acC>acG	p.T118T	KAZN_ENST00000422387.2_Silent_p.T118T|KAZN_ENST00000400797.3_Silent_p.T24T|KAZN_ENST00000503743.1_Silent_p.T118T|KAZN_ENST00000361144.5_Silent_p.T112T|KAZN_ENST00000400798.2_Silent_p.T24T	NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	118					keratinization	cornified envelope|cytoplasm|desmosome|nucleus				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						TCTCGGCCACCGAGCTCAGGG	0.612000													3	20					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124528890	124528890	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:124528890C>T	ENST00000408936.3	+	9	1760	c.1578C>T	c.(1576-1578)ctC>ctT	p.L526L	DAB2IP_ENST00000309989.1_Silent_p.L402L|DAB2IP_ENST00000259371.2_Silent_p.L498L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	526	Ras-GAP.				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						TGCGCTTCCTCTGCCCAGCCA	0.632000													41	183					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49438647	49438647	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:49438647G>A	ENST00000301067.7	-	19	4842	c.4843C>T	c.(4843-4845)Cga>Tga	p.R1615*		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		AGCCGTCCTCGCCGTTGGCGC	0.612000													27	97					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	50					0	0	1	0	0
DMXL1	1657	broad.mit.edu	37	5	118454614	118454614	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:118454614G>A	ENST00000311085.8	+	8	928	c.848G>A	c.(847-849)tGc>tAc	p.C283Y	DMXL1_ENST00000539542.1_Missense_Mutation_p.C283Y	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	283										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GGAGGTGACTGCAGCCATTGG	0.353000													15	59					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103710685	103710685	+	Missense_Mutation	SNP	G	G	A	rs117447044	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr13:103710685G>A	ENST00000245312.3	-	2	1021	c.425C>T	c.(424-426)cCg>cTg	p.P142L		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	142					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity	p.P142L(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GAGGCACAGCGGCATCATTCC	0.483000													19	61					0	0	1	0	0
GLDC	2731	broad.mit.edu	37	9	6553457	6553457	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:6553457G>A	ENST00000321612.6	-	20	2518	c.2368C>T	c.(2368-2370)Cgg>Tgg	p.R790W		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	790					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCCTCATTCCGCTTTAGTGAA	0.478000													21	70					0	0	1	0	0
TCF21	6943	broad.mit.edu	37	6	134210907	134210907	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:134210907G>A	ENST00000367882.4	+	1	632	c.372G>A	c.(370-372)gcG>gcA	p.A124A	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.A124A	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	124	Helix-loop-helix motif.				branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCAGGCTGGCGTCCAGCTACA	0.617000													56	148					0	0	1	0	0
SCAF4	57466	broad.mit.edu	37	21	33074679	33074679	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:33074679C>T	ENST00000286835.7	-	5	717	c.335G>A	c.(334-336)cGt>cAt	p.R112H	SCAF4_ENST00000434667.3_Missense_Mutation_p.R97H|SCAF4_ENST00000399804.1_Missense_Mutation_p.R112H	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	112	CID.					nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTTCAGCACACGAACTATTTT	0.358000													14	34					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189584501	189584501	+	Missense_Mutation	SNP	G	G	A	rs121908849		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:189584501G>A	ENST00000264731.3	+	6	886	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	TP63_ENST00000320472.5_Missense_Mutation_p.R266Q|TP63_ENST00000437221.1_Missense_Mutation_p.R172Q|TP63_ENST00000392463.2_Missense_Mutation_p.R172Q|TP63_ENST00000440651.2_Missense_Mutation_p.R266Q|TP63_ENST00000354600.5_Missense_Mutation_p.R172Q|TP63_ENST00000418709.2_Missense_Mutation_p.R266Q|TP63_ENST00000449992.1_Missense_Mutation_p.R87Q|TP63_ENST00000392460.3_Missense_Mutation_p.R266Q|TP63_ENST00000382063.4_Missense_Mutation_p.R181Q|TP63_ENST00000456148.1_Missense_Mutation_p.R172Q|TP63_ENST00000392461.3_Missense_Mutation_p.R172Q	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	266			R -> Q (in EEC3).		anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATTTGATTCGAGTAGAGGGG	0.403000										HNSCC(45;0.13)			14	52					0	0	1	0	0
TADA2B	93624	broad.mit.edu	37	4	7056021	7056021	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:7056021C>T	ENST00000310074.7	+	2	692	c.503C>T	c.(502-504)cCg>cTg	p.P168L	TADA2B_ENST00000512388.1_Missense_Mutation_p.P93L|TADA2B_ENST00000515646.1_Missense_Mutation_p.P76L	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GGCTACATGCCGCTGCGGGAT	0.627000													6	26					0	0	1	0	0
EIF3G	8666	broad.mit.edu	37	19	10226486	10226486	+	Missense_Mutation	SNP	G	G	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:10226486G>C	ENST00000253108.4	-	9	756	c.714C>G	c.(712-714)aaC>aaG	p.N238K		NM_003755.3	NP_003746.2	O75821	EIF3G_HUMAN	eukaryotic translation initiation factor 3, subunit G	238						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			GGATGGTGGCGTTGTCGTCGG	0.642000													26	116					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64519872	64519872	+	Missense_Mutation	SNP	C	C	G	rs150085946	by1000genomes	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:64519872C>G	ENST00000358025.3	+	48	9471	c.9241C>G	c.(9241-9243)Cgg>Ggg	p.R3081G	SYNE2_ENST00000554584.1_Missense_Mutation_p.R3114G|SYNE2_ENST00000344113.4_Missense_Mutation_p.R3081G|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3081					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)		GGAAAGCAGACGGCTCAATGC	0.333000													12	48					0	0	1	0	0
AE000661.37	0	broad.mit.edu	37	14	22932115	22932115	+	RNA	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:22932115G>A	ENST00000514473.2	-	0	225				AE000661.37_ENST00000556777.1_RNA|TRDC_ENST00000390477.2_RNA																							TGGTAAATATGAAGATTCAAA	0.393000													15	36					0	0	1	0	0
SLC25A25	114789	broad.mit.edu	37	9	130868110	130868110	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:130868110G>A	ENST00000373066.5	+	7	1251	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	SLC25A25_ENST00000433501.1_Missense_Mutation_p.V147I|SLC25A25_ENST00000373064.5_Missense_Mutation_p.V250I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.V270I|SLC25A25_ENST00000373069.5_Missense_Mutation_p.V296I|SLC25A25_ENST00000373068.2_Missense_Mutation_p.V284I	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	250					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						TGGCATCAACGTCCTCAAAAT	0.582000													12	85					0	0	1	0	0
TAS2R20	259295	broad.mit.edu	37	12	11150472	11150472	+	Translation_Start_Site	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:11150472C>A	ENST00000538986.1	-	1	2	c.3G>T	c.(1-3)atG>atT	p.M1I	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176889.2	NP_795370.2	P59543	T2R20_HUMAN	taste receptor, type 2, member 20	1					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						GAAAACTCATCATGTCTAAAC	0.328000													4	34					0.00024832	0.000256032	1	1	0
SMG1	23049	broad.mit.edu	37	16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736000													3	14					0	0	1	0	0
MAN2B1	4125	broad.mit.edu	37	19	12758310	12758310	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:12758310C>T	ENST00000456935.2	-	22	2807	c.2767G>A	c.(2767-2769)Gta>Ata	p.V923I	CTD-2192J16.22_ENST00000597692.1_Missense_Mutation_p.R109H|MAN2B1_ENST00000221363.4_Missense_Mutation_p.V922I	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	923					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						TCCTCTCCTACGGCAAACTGG	0.617000													49	138					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55370996	55370996	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:55370996T>C	ENST00000302231.4	-	1	878	c.854A>G	c.(853-855)tAc>tGc	p.Y285C		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CCTCAGTGTGTAGATGAGTGG	0.403000													20	11					0	0	1	0	0
MAGEA4	4103	broad.mit.edu	37	X	151081003	151081003	+	RNA	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:151081003T>C	ENST00000424126.1	-	0	249																											GCAGGCTCTGTGAGGAGGCAA	0.622000													4	12					0	0	1	0	0
SLC4A3	6508	broad.mit.edu	37	2	220502516	220502516	+	Missense_Mutation	SNP	C	C	T	rs140297559	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:220502516C>T	ENST00000358055.3	+	17	3261	c.2749C>T	c.(2749-2751)Cgc>Tgc	p.R917C	SLC4A3_ENST00000273063.6_Missense_Mutation_p.R944C|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R917C|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R944C|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R917C			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	917	Membrane (anion exchange).				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGAACAGCCGCTTCCTGGG	0.622000													15	63					0	0	1	0	0
COL6A5	256076	broad.mit.edu	37	3	130159339	130159339	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:130159339A>G	ENST00000265379.6	+	35	6651	c.6157A>G	c.(6157-6159)Aat>Gat	p.N2053D	COL6A5_ENST00000432398.2_Missense_Mutation_p.N2053D			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2053	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCAACAGCTAAATGGAGAAGC	0.408000													17	44					0	0	1	0	0
STAG3	10734	broad.mit.edu	37	7	99802998	99802998	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:99802998C>T	ENST00000426455.1	+	29	3636	c.3229C>T	c.(3229-3231)Cgc>Tgc	p.R1077C	GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Missense_Mutation_p.R1077C|STAG3_ENST00000394018.2_Missense_Mutation_p.R1019C			Q9UJ98	STAG3_HUMAN	stromal antigen 3	1077					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAAGAGGAGGCGCGTTGAAGG	0.582000													10	46					0	0	1	0	0
FBXW7	55294	broad.mit.edu	37	4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	rs144247898		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:153244185G>A	ENST00000281708.4	-	12	3201	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R540*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R578*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R658*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R482*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R658*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	658					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R658*(3)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473000			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								25	116					0	0	1	0	0
MOCS1	4337	broad.mit.edu	37	6	39902041	39902041	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:39902041G>A	ENST00000308559.7	-	1	249	c.116C>T	c.(115-117)gCc>gTc	p.A39V	MOCS1_ENST00000340692.5_Missense_Mutation_p.A39V|MOCS1_ENST00000373188.2_Missense_Mutation_p.A39V|MOCS1_ENST00000373195.3_5'UTR			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	39	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CACCTCCGAGGCAGCTCGCGC	0.726000													3	4					0	0	1	0	0
MCM2	4171	broad.mit.edu	37	3	127323893	127323893	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:127323893G>A	ENST00000265056.7	+	4	811	c.567G>A	c.(565-567)gcG>gcA	p.A189A		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	189	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGAGCATGGCGGGCCCCCGGC	0.627000													32	111					0	0	1	0	0
CORO1C	23603	broad.mit.edu	37	12	109051080	109051080	+	Splice_Site	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr12:109051080C>T	ENST00000261401.3	-	6	922	c.750_splice	c.e6+1	p.P250_splice	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Splice_Site_p.P250_splice|CORO1C_ENST00000549772.1_Splice_Site_p.P256_splice|CORO1C_ENST00000421578.2_Splice_Site_p.P145_splice|CORO1C_ENST00000420959.2_Splice_Site_p.P303_splice	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	250					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						GAGGGCGTACCGGATTCCAGA	0.532000													23	112					0	0	1	0	0
SLC10A2	6555	broad.mit.edu	37	13	103698602	103698602	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr13:103698602C>T	ENST00000245312.3	-	6	1524	c.928G>A	c.(928-930)Gca>Aca	p.A310T		NM_000452.2	NP_000443.1	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	310					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTCTTGTATGCCACATAAACT	0.328000													3	26					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39934190	39934190	+	Missense_Mutation	SNP	C	C	T	rs146403660	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:39934190C>T	ENST00000342274.4	-	4	771	c.409G>A	c.(409-411)Gtc>Atc	p.V137I	BCOR_ENST00000397354.3_Missense_Mutation_p.V137I|BCOR_ENST00000378444.4_Missense_Mutation_p.V137I|BCOR_ENST00000378455.4_Missense_Mutation_p.V137I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	137					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						TTTCCAGAGACGGCAGAAGCC	0.512000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						4	102					0	0	1	0	0
AP4E1	23431	broad.mit.edu	37	15	51233739	51233739	+	Silent	SNP	T	T	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:51233739T>G	ENST00000261842.5	+	9	1150	c.1044T>G	c.(1042-1044)ccT>ccG	p.P348P	AP4E1_ENST00000560508.1_Silent_p.P273P	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	348					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTCTGTCACCTAAAATAAATC	0.303000													9	21					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259561	55259561	+	Silent	SNP	A	A	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:55259561A>C	ENST00000275493.2	+	21	2796	c.2619A>C	c.(2617-2619)ggA>ggC	p.G873G	EGFR_ENST00000454757.2_Silent_p.G820G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Silent_p.G828G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	873	Protein kinase.		G -> E (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G873G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATGCAGAAGGAGGCAAAGTAA	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			44	87					0	0	1	0	0
KIDINS220	57498	broad.mit.edu	37	2	8952586	8952586	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:8952586C>T	ENST00000256707.3	-	6	624	c.443G>A	c.(442-444)gGc>gAc	p.G148D	KIDINS220_ENST00000319688.5_Missense_Mutation_p.G149D|KIDINS220_ENST00000427284.1_Missense_Mutation_p.G148D|KIDINS220_ENST00000418530.1_Missense_Mutation_p.G106D|KIDINS220_ENST00000473731.1_Missense_Mutation_p.G148D	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	148					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATCTGCATGGCCTCTCCCTGC	0.428000													14	37					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40902557	40902557	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:40902557G>A	ENST00000324001.7	-	7	1972	c.1702C>T	c.(1702-1704)Cgg>Tgg	p.R568W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	568	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTGGAAGCCGCACCTCTGGC	0.557000													5	320					0	0	1	0	0
GATA3	2625	broad.mit.edu	37	10	8106041	8106041	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:8106041C>T	ENST00000379328.3	+	4	1432	c.864C>T	c.(862-864)tgC>tgT	p.C288C	GATA3_ENST00000461472.1_Intron|GATA3_ENST00000346208.3_Silent_p.C287C	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	287					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCAACGCCTGCGGGCTCTATC	0.567000			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""						29	98					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55036813	55036813	+	Nonstop_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr11:55036813G>T	ENST00000417545.2	+	5	760	c.674G>T	c.(673-675)tGa>tTa	p.*225L		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	0						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AACCAATTCTGAGGTAAGTCT	0.478000													9	43					1.12685e-05	1.17646e-05	1	1	0
MAML3	55534	broad.mit.edu	37	4	140641035	140641035	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:140641035C>T	ENST00000509479.2	-	5	3715	c.2859G>A	c.(2857-2859)atG>atA	p.M953I	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	949	Gln-rich.				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					GGACTGTTCCCATAAGGCTCT	0.572000													24	79					0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34505570	34505570	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr20:34505570G>A	ENST00000374012.3	+	13	2119	c.1990G>A	c.(1990-1992)Gac>Aac	p.D664N	PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GGAGGAAAATGACTTCATGAT	0.507000													11	32					0	0	1	0	0
TMED10	10972	broad.mit.edu	37	14	75602474	75602474	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:75602474C>T	ENST00000303575.4	-	4	578	c.527G>A	c.(526-528)cGt>cAt	p.R176H	TMED10_ENST00000557670.1_5'UTR|RP11-950C14.7_ENST00000556236.1_RNA	NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	176	GOLD.				protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		GTTGGTATCACGCATCTCCTC	0.433000													17	44					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982102	61982102	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr20:61982102T>C	ENST00000370263.4	-	5	882	c.661A>G	c.(661-663)Agg>Ggg	p.R221G	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	221					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCGTACTTCCTGGTGTTGTAG	0.592000													29	91					0	0	1	0	0
CYP4F3	4051	broad.mit.edu	37	19	15770152	15770152	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:15770152G>A	ENST00000221307.7	+	13	1568	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	CYP4F3_ENST00000591058.1_Missense_Mutation_p.R507H|CYP4F3_ENST00000586182.1_Missense_Mutation_p.R507H|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R507H	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	507					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CTGGTCCTGCGCGCAGAGGGC	0.637000													8	31					0	0	1	0	0
ARMC3	219681	broad.mit.edu	37	10	23290888	23290888	+	Missense_Mutation	SNP	T	T	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr10:23290888T>C	ENST00000298032.5	+	12	1550	c.1466T>C	c.(1465-1467)cTa>cCa	p.L489P	ARMC3_ENST00000409983.3_Missense_Mutation_p.L489P|ARMC3_ENST00000409049.3_Missense_Mutation_p.L489P|ARMC3_ENST00000376528.4_Missense_Mutation_p.L226P	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	489							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTAGAGCTGCTACGCTCCAAG	0.463000													11	37					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110168331	110168331	+	Silent	SNP	G	G	A	rs139217835		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:110168331G>A	ENST00000256578.3	+	3	792	c.432G>A	c.(430-432)ccG>ccA	p.P144P	AMPD2_ENST00000342115.4_Silent_p.P63P|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000393688.3_Silent_p.P25P|AMPD2_ENST00000358729.4_Silent_p.P69P|AMPD2_ENST00000528667.1_Silent_p.P144P|AMPD2_ENST00000528454.1_Silent_p.P26P	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	144					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GTAGTGCCCCGTATGAGTTCC	0.672000													36	80					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58024429	58024429	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:58024429G>A	ENST00000599847.1	+	5	489	c.347G>A	c.(346-348)cGt>cAt	p.R116H	ZNF773_ENST00000593916.1_Missense_Mutation_p.R100H			Q6PK81	ZN773_HUMAN	zinc finger protein 773	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GAACAGggacgtgagtgaaga	0.493000													5	12					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145																		p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000													3	33					0	0	1	0	0
GRIN3B	116444	broad.mit.edu	37	19	1003546	1003546	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:1003546G>A	ENST00000234389.3	+	2	863	c.844G>A	c.(844-846)Ggc>Agc	p.G282S		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	282					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCTGGCGCTGGGCGAGGTGGC	0.741000													3	3					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68172048	68172048	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:68172048G>A	ENST00000243457.3	+	2	1251	c.868G>A	c.(868-870)Gca>Aca	p.A290T	KCNJ2_ENST00000535240.1_Missense_Mutation_p.A290T	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	290					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.A290T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CATTGACAACGCAGACTTTGA	0.438000													4	105					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56735007	56735007	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:56735007C>T	ENST00000587340.1	-	5	1276	c.581G>A	c.(580-582)aGg>aAg	p.R194K	ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.R194K|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.R194K|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.R48K|ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.R77K			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	194					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R194M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACCTGCCTCCTGGACAATGC	0.612000													8	29					0	0	1	0	0
MDC1	9656	broad.mit.edu	37	6	30681756	30681756	+	Missense_Mutation	SNP	C	C	T	rs61748587		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:30681756C>T	ENST00000376406.3	-	3	988	c.341G>A	c.(340-342)cGt>cAt	p.R114H	MDC1_ENST00000376405.2_Missense_Mutation_p.R114H	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	114	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GTCCCTCAGACGGTGACTCAC	0.547000								Other conserved DNA damage response genes					19	51					0	0	1	0	0
MST1	4485	broad.mit.edu	37	3	49723545	49723545	+	Missense_Mutation	SNP	G	G	A	rs4052562		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:49723545G>A	ENST00000449682.2	-	9	1458	c.1097C>T	c.(1096-1098)gCg>gTg	p.A366V	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	352					proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAAAAGGCCGCGCGCATGCC	0.667000													3	35					0	0	1	0	0
RICTOR	253260	broad.mit.edu	37	5	38955713	38955713	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr5:38955713G>A	ENST00000357387.3	-	26	2623	c.2593C>T	c.(2593-2595)Cgt>Tgt	p.R865C	RICTOR_ENST00000503698.1_5'UTR|RICTOR_ENST00000296782.5_Missense_Mutation_p.R865C	NM_152756.3	NP_689969.2	Q6R327	RICTR_HUMAN	RPTOR independent companion of MTOR, complex 2	865					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTACTCCGACGAACATAGTTA	0.353000													18	88					0	0	1	0	0
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:16285788C>T	ENST00000302182.3	+	2	959	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_ENST00000578649.1_3'UTR|UBB_ENST00000535788.1_Silent_p.P113P|UBB_ENST00000395839.1_Silent_p.P189P|UBB_ENST00000395837.1_Silent_p.P189P|RP11-138I1.4_ENST00000583934.1_RNA	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	189	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P189P(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552000													4	83					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	80130227	80130227	+	Missense_Mutation	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr14:80130227C>A	ENST00000281127.7	+	3	1415	c.536C>A	c.(535-537)aCc>aAc	p.T179N	RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Missense_Mutation_p.T811N|NRXN3_ENST00000557594.1_Missense_Mutation_p.T179N|NRXN3_ENST00000335750.5_Missense_Mutation_p.T811N|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000428277.2_Missense_Mutation_p.T179N	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	179	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTACGCTTCACCAGGAACGGC	0.483000													11	32					5.50884e-06	5.78777e-06	1	1	0
SPTBN4	57731	broad.mit.edu	37	19	40996096	40996096	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:40996096G>A	ENST00000352632.3	+	4	522	c.436G>A	c.(436-438)Gtg>Atg	p.V146M	SPTBN4_ENST00000344104.3_Missense_Mutation_p.V146M|SPTBN4_ENST00000338932.3_Missense_Mutation_p.V146M|SPTBN4_ENST00000598249.1_Missense_Mutation_p.V146M|SPTBN4_ENST00000595535.1_Missense_Mutation_p.V146M			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	146	Actin-binding.|CH 1.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCATGACATCGTGGATGGGAA	0.632000													9	60					0	0	1	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111956584	111956584	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:111956584G>A	ENST00000374566.3	-	21	2656	c.2139C>T	c.(2137-2139)tcC>tcT	p.S713S		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	713						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCAGCGGCACGGAGACTTGTG	0.612000													6	146					0	0	1	0	0
TLK1	9874	broad.mit.edu	37	2	171850363	171850363	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr2:171850363G>T	ENST00000442919.2	-	21	2699	c.2084C>A	c.(2083-2085)tCt>tAt	p.S695Y	TLK1_ENST00000521943.1_Missense_Mutation_p.S695Y|TLK1_ENST00000431350.2_Missense_Mutation_p.S743Y|TLK1_ENST00000434911.2_Missense_Mutation_p.S647Y|TLK1_ENST00000360843.3_Missense_Mutation_p.S764Y	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	743	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTTCCTGAAGAATTTGATCT	0.438000													36	73					4.62619e-21	5.11965e-21	1	1	0
F3	2152	broad.mit.edu	37	1	95007178	95007178	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:95007178G>A	ENST00000334047.7	-	1	178	c.15C>T	c.(13-15)gcC>gcT	p.A5A	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.A5A	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	5					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CCCGGGGCCAGGCAGGGGTCT	0.741000													3	15					0	0	1	0	0
ATP13A2	23400	broad.mit.edu	37	1	17314721	17314721	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:17314721C>T	ENST00000452699.1	-	25	2945	c.2756G>A	c.(2755-2757)cGc>cAc	p.R919H	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R880H|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.R924H	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	924					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)		AAGGGAACAGCGCCCCTCCCT	0.602000													22	86					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726000	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			27	22					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232574963	232574963	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:232574963C>T	ENST00000366630.1	-	14	4280	c.3922G>A	c.(3922-3924)Gac>Aac	p.D1308N	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.D1308N|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.D382N			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1308				D -> V (in Ref. 2; BAB14273).	regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GCTGGCTCGTCGTCAGGCCCA	0.637000													21	58					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436658	248436658	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:248436658G>A	ENST00000318021.2	-	1	480	c.459C>T	c.(457-459)gaC>gaT	p.D153D		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCAGGAGCCCGTCAGCTGCAC	0.587000													23	174					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160176437	160176437	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:160176437G>A	ENST00000358372.4	+	8	2742	c.985G>A	c.(985-987)Gta>Ata	p.V329I	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	329					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		TAGTGGTTACGTAAATCAACT	0.493000													17	63					0	0	1	0	0
LIPE	3991	broad.mit.edu	37	19	42930829	42930829	+	Missense_Mutation	SNP	G	G	A	rs138508614		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:42930829G>A	ENST00000244289.4	-	1	749	c.473C>T	c.(472-474)gCg>gTg	p.A158V	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593740.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	158					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				AGCCTGGGCCGCAGGTGTTGA	0.562000													19	80					0	0	1	0	0
HIP1	3092	broad.mit.edu	37	7	75182847	75182847	+	Missense_Mutation	SNP	C	C	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:75182847C>T	ENST00000336926.6	-	22	2226	c.2200G>A	c.(2200-2202)Gcc>Acc	p.A734T	HIP1_ENST00000434438.2_Missense_Mutation_p.A734T	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	734					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GCCAGGTAGGCGAGGGTTTCC	0.547000			T	PDGFRB	CMML								5	100					0	0	1	0	0
MAST1	22983	broad.mit.edu	37	19	12954373	12954373	+	Silent	SNP	G	G	A	rs62108431	byFrequency	TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:12954373G>A	ENST00000251472.4	+	4	318	c.279G>A	c.(277-279)tcG>tcA	p.S93S	MAST1_ENST00000591495.1_Silent_p.S89S	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	93					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTCTGGCCTCGCTCCCTTCAT	0.657000													21	70					0	0	1	0	0
C9orf3	84909	broad.mit.edu	37	9	97717510	97717510	+	Silent	SNP	C	C	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr9:97717510C>A	ENST00000375315.2	+	7	1713	c.1713C>A	c.(1711-1713)atC>atA	p.I571I	C9orf3_ENST00000297979.5_Silent_p.I472I	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	571					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CATCTGTTATCAAGCATGGAC	0.393000													9	74					0.000274275	0.000281047	1	1	0
GABRR2	2570	broad.mit.edu	37	6	90024934	90024934	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:90024934G>A	ENST00000602399.1	-	1	33	c.26C>T	c.(25-27)tCt>tTt	p.S9F	GABRR2_ENST00000602808.1_5'UTR|GABRR2_ENST00000402938.3_5'UTR	NM_002043.2	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	9					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GCCTGTGGCAGAGCAAATCCC	0.517000													71	203					0	0	1	0	0
OGDH	4967	broad.mit.edu	37	7	44721372	44721372	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:44721372G>A	ENST00000222673.5	+	10	1302	c.1260G>A	c.(1258-1260)gtG>gtA	p.V420V	OGDH_ENST00000447398.1_Silent_p.V431V|OGDH_ENST00000444676.1_Silent_p.V435V|OGDH_ENST00000439616.2_Silent_p.V270V|OGDH_ENST00000543843.1_Silent_p.V371V|OGDH_ENST00000449767.1_Silent_p.V416V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	420					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGGGCATTGTGTACGAGACCT	0.542000													29	112					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													3	42					0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20636834	20636834	+	Missense_Mutation	SNP	C	C	T	rs145170042		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr16:20636834C>T	ENST00000219151.4	-	12	1601	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	ACSM1_ENST00000307493.4_Missense_Mutation_p.G480R|ACSM1_ENST00000520010.1_Missense_Mutation_p.G480R			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	480					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCTGCAGGCCCGATGCGATAC	0.617000													10	27					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99663057	99663057	+	Missense_Mutation	SNP	G	G	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chrX:99663057G>A	ENST00000373034.4	-	1	2214	c.539C>T	c.(538-540)aCg>aTg	p.T180M	PCDH19_ENST00000420881.2_Missense_Mutation_p.T180M|PCDH19_ENST00000255531.7_Missense_Mutation_p.T180M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	180	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTCGCCGCGCGTCTTGATCTC	0.617000													23	69					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55259557	55259557	+	Missense_Mutation	SNP	A	A	G			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr7:55259557A>G	ENST00000275493.2	+	21	2792	c.2615A>G	c.(2614-2616)gAa>gGa	p.E872G	EGFR_ENST00000454757.2_Missense_Mutation_p.E819G|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.E827G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	872	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E872G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACCATGCAGAAGGAGGCAAA	0.517000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			45	94					0	0	1	0	0
CHD1L	9557	broad.mit.edu	37	1	146751862	146751862	+	Missense_Mutation	SNP	G	G	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr1:146751862G>T	ENST00000369258.4	+	15	1723	c.1703G>T	c.(1702-1704)gGa>gTa	p.G568V	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Missense_Mutation_p.G364V|CHD1L_ENST00000431239.1_Missense_Mutation_p.G474V|CHD1L_ENST00000361293.5_Missense_Mutation_p.G287V	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	568					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CAAGAGGAAGGAAGTAAGTTG	0.517000													8	38					1.06961e-07	1.14552e-07	1	1	0
C3orf27	23434	broad.mit.edu	37	3	128292388	128292388	+	Frame_Shift_Del	DEL	C	C	-	rs141391181		TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr3:128292388delC	ENST00000356020.2	-	3	1151	c.185delG	c.(184-186)gtfs	p.G62fs		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	62										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GGTCCCCAGACCCCCGAGTGT	0.612													20	81	---	---	---	---					
GBA3	57733	broad.mit.edu	37	4	22749537	22749538	+	RNA	INS	-	-	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:22749537_22749538insT	ENST00000503442.1	+	0	377				GBA3_ENST00000511446.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001128432.2	NP_001121904.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCACTGCTGATTTTTTTGCTG	0.396													11	24	---	---	---	---					
FBXW7	55294	broad.mit.edu	37	4	153247161	153247162	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:153247161_153247162insA	ENST00000281708.4	-	10	2869_2870	c.1640_1641insT	c.(1639-1641)tcafs	p.S547fs	FBXW7_ENST00000296555.5_Frame_Shift_Ins_p.S429fs|FBXW7_ENST00000603841.1_Frame_Shift_Ins_p.S547fs|FBXW7_ENST00000393956.3_Frame_Shift_Ins_p.S371fs|FBXW7_ENST00000603548.1_Frame_Shift_Ins_p.S547fs|FBXW7_ENST00000263981.5_Frame_Shift_Ins_p.S467fs	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	547					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ATCTTACCTGTAATGAATAGAC	0.401			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""								26	100	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187540557	187540557	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr4:187540557delA	ENST00000441802.2	-	10	7392	c.7183delT	c.(7183-7185)atfs	p.Y2395fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2395	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGGCTTCATAAATCTGTTGT	0.478										HNSCC(5;0.00058)			12	37	---	---	---	---					
DOPEY1	23033	broad.mit.edu	37	6	83849831	83849832	+	Splice_Site	INS	-	-	T			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr6:83849831_83849832insT	ENST00000349129.2	+	22	5492		c.e22+1		DOPEY1_ENST00000369739.3_Splice_Site|DOPEY1_ENST00000484282.1_Splice_Site|DOPEY1_ENST00000237163.5_Splice_Site	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1						protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GTATCACCAAGTAAGACTGCAC	0.351													20	39	---	---	---	---					
SPPL2A	84888	broad.mit.edu	37	15	51014390	51014390	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr15:51014390delT	ENST00000261854.5	-	13	1532	c.1258delA	c.(1258-1260)ttfs	p.I420fs	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	420						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CAGTATGCAATCAACAGGCCT	0.264													9	43	---	---	---	---					
VEZF1	7716	broad.mit.edu	37	17	56059289	56059290	+	Frame_Shift_Ins	INS	-	-	GGTCA			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr17:56059289_56059290insGGTCA	ENST00000584396.1	-	3	797_798	c.709_710insTGACC	c.(709-711)cttfs	p.L237fs	VEZF1_ENST00000581208.1_Frame_Shift_Ins_p.L246fs			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	246					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ACAGCTTAAGTGGTCAGGCCTG	0.391													9	54	---	---	---	---					
KMT2B	9757	broad.mit.edu	37	19	36229073	36229075	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr19:36229073_36229075delAGA	ENST00000222270.7	+	36	7853_7855	c.7853_7855delAGA	c.(7852-7857)gag>g	p.EK2618del	KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_In_Frame_Del_p.EK2618del	NM_014727.1	NP_055542.1																					GACAAGCGGGAGAAGTTCTACGA	0.606													8	29	---	---	---	---					
C20orf201	198437	broad.mit.edu	37	20	62714907	62714908	+	Frame_Shift_Ins	INS	-	-	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr20:62714907_62714908insC	ENST00000308906.2	-	2	692_693	c.553_554insG	c.(553-555)aagfs	p.K185fs	OPRL1_ENST00000336866.2_Intron|OPRL1_ENST00000355631.4_Intron|C20orf201_ENST00000302096.4_Intron	NM_001007125.1	NP_001007126.1	Q8TD35	CT201_HUMAN	chromosome 20 open reading frame 201	29																	CCCTCCCCTTTCCCCGCCCCTA	0.728													4	5	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579													5	6	---	---	---	---					
SCAF4	57466	broad.mit.edu	37	21	33066556	33066557	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-MT-A67A-01A-11D-A30E-08	TCGA-MT-A67A-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33a8bef3-7919-41be-9426-a39fb63a9676	b6949f79-72e5-4c80-87a8-d937e41579cb	g.chr21:33066556_33066557delAT	ENST00000286835.7	-	11	1664_1665	c.1282_1283delAT	c.(1282-1284)gfs	p.M428fs	SCAF4_ENST00000434667.3_Frame_Shift_Del_p.M413fs|SCAF4_ENST00000399804.1_Frame_Shift_Del_p.M428fs	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	428						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GTTATCAGACATATGTCGCTTA	0.302													10	16	---	---	---	---