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
ASH1L	55870	broad.mit.edu	37	1	155429593	155429593	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:155429593G>C	ENST00000368346.3	-	4	5720	c.5081C>G	c.(5080-5082)tCa>tGa	p.S1694*	ASH1L_ENST00000392403.3_Nonsense_Mutation_p.S1694*			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1694	Ser-rich.				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTAGCCTGTTGAAGAAGTACT	0.423													7	16	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183514379	183514379	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:183514379C>T	ENST00000367537.3	+	17	2446	c.2251C>T	c.(2251-2253)Caa>Taa	p.Q751*	SMG7_ENST00000507469.1_Nonsense_Mutation_p.Q722*|SMG7_ENST00000515829.2_Nonsense_Mutation_p.Q722*|SMG7_ENST00000347615.2_Nonsense_Mutation_p.Q768*|SMG7_ENST00000508461.1_Nonsense_Mutation_p.Q726*|SMG7_ENST00000456731.2_Nonsense_Mutation_p.Q680*			Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	768	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AACTCAGCAACAACAATCCCC	0.512													4	74	---	---	---	---
LRRN2	10446	broad.mit.edu	37	1	204589109	204589109	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:204589109G>A	ENST00000367175.1	-	1	2224	c.12C>T	c.(10-12)ctC>ctT	p.L4L	LRRN2_ENST00000367177.3_Silent_p.L4L|LRRN2_ENST00000496057.1_5'UTR|LRRN2_ENST00000367176.3_Silent_p.L4L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	4					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTGGGGCCACGAGAAGCCTCA	0.617													3	5	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229580721	229580721	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr1:229580721G>A	ENST00000261396.3	-	25	3365	c.3274C>T	c.(3274-3276)Cca>Tca	p.P1092S	NUP133_ENST00000537506.1_Missense_Mutation_p.P1076S	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1092					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACTTCAATTGGATCATCTTTG	0.318													31	98	---	---	---	---
OTX1	5013	broad.mit.edu	37	2	63282953	63282953	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:63282953G>A	ENST00000282549.2	+	5	843	c.567G>A	c.(565-567)gcG>gcA	p.A189A	OTX1_ENST00000366671.3_Silent_p.A189A	NM_014562.3	NP_055377.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	189						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					CAGCGCCCGCGTCCGTGTCGG	0.682													7	11	---	---	---	---
MLPH	79083	broad.mit.edu	37	2	238402143	238402143	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr2:238402143A>T	ENST00000264605.3	+	2	368	c.74A>T	c.(73-75)gAt>gTt	p.D25V	MLPH_ENST00000338530.4_Missense_Mutation_p.D25V|MLPH_ENST00000409373.1_Missense_Mutation_p.D25V|MLPH_ENST00000410032.1_Missense_Mutation_p.D25V|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.D25V	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	25	RabBD.						metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTTCAACGAGATTTTGACCTC	0.542													22	74	---	---	---	---
CHRNA9	55584	broad.mit.edu	37	4	40351353	40351353	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:40351353A>G	ENST00000310169.2	+	4	959	c.820A>G	c.(820-822)Acc>Gcc	p.T274A		NM_017581.3	NP_060051.2	Q9UGM1	ACHA9_HUMAN	cholinergic receptor, nicotinic, alpha 9 (neuronal)	274					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	CCTGGGAGTGACCATCCTGTT	0.507													84	151	---	---	---	---
ELF2	1998	broad.mit.edu	37	4	139980684	139980684	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:139980684G>C	ENST00000394235.2	-	10	1701	c.1199C>G	c.(1198-1200)tCa>tGa	p.S400*	ELF2_ENST00000379549.2_Nonsense_Mutation_p.S323*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.S352*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.S400*|ELF2_ENST00000379550.1_Nonsense_Mutation_p.S412*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.S340*|ELF2_ENST00000515489.1_Intron	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	412					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGCATTAACTGACTGAACTGC	0.433													4	105	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187540591	187540591	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr4:187540591G>A	ENST00000441802.2	-	10	7358	c.7149C>T	c.(7147-7149)ctC>ctT	p.L2383L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2383	Cadherin 21.				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						GATTATCATTGAGGTCGGTAA	0.502										HNSCC(5;0.00058)			18	44	---	---	---	---
PDZD2	23037	broad.mit.edu	37	5	32089032	32089032	+	Silent	SNP	T	T	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:32089032T>C	ENST00000438447.1	+	20	5866	c.5478T>C	c.(5476-5478)ccT>ccC	p.P1826P	PDZD2_ENST00000282493.3_Silent_p.P1826P			O15018	PDZD2_HUMAN	PDZ domain containing 2	1826					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CTCTAATGCCTGCCAGAAGTC	0.468													29	46	---	---	---	---
EGR1	1958	broad.mit.edu	37	5	137802637	137802637	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:137802637C>G	ENST00000239938.4	+	2	771	c.499C>G	c.(499-501)Cca>Gca	p.P167A		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	167					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CATGACCAACCCACCGGCCTC	0.652													48	74	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140215504	140215504	+	Silent	SNP	G	G	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr5:140215504G>T	ENST00000525929.1	+	1	1536	c.1536G>T	c.(1534-1536)gcG>gcT	p.A512A	PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.A512A|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTGCACGCGGAGAGCGGCA	0.701													61	101	---	---	---	---
GTF3C6	112495	broad.mit.edu	37	6	111288987	111288987	+	Silent	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:111288987G>A	ENST00000329970.7	+	6	846	c.636G>A	c.(634-636)ctG>ctA	p.L212L	GTF3C6_ENST00000480191.1_3'UTR	NM_138408.3	NP_612417.1	Q969F1	TF3C6_HUMAN	general transcription factor IIIC, polypeptide 6, alpha 35kDa	212						transcription factor TFIIIC complex	DNA binding|protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		CTCAAATGCTGCCTTAGAAAT	0.338													3	29	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155565186	155565186	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:155565186G>C	ENST00000461783.3	+	19	4663	c.3390G>C	c.(3388-3390)caG>caC	p.Q1130H	TIAM2_ENST00000367174.2_Missense_Mutation_p.Q506H|TIAM2_ENST00000529824.2_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456144.1_Missense_Mutation_p.Q1130H|TIAM2_ENST00000456877.2_Missense_Mutation_p.Q442H|TIAM2_ENST00000360366.4_Missense_Mutation_p.Q1154H|TIAM2_ENST00000528391.2_Missense_Mutation_p.Q466H|TIAM2_ENST00000275246.7_Missense_Mutation_p.Q55H|TIAM2_ENST00000318981.5_Missense_Mutation_p.Q1130H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1130	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCCACTTCAGAATGAGACCT	0.398													39	65	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519779	113519779	+	Silent	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:113519779G>C	ENST00000284601.3	-	4	1436	c.1368C>G	c.(1366-1368)ccC>ccG	p.P456P		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	456					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GATCTGAAGAGGGGCAAGGTA	0.398													5	103	---	---	---	---
KIAA1147	57189	broad.mit.edu	37	7	141385300	141385300	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr7:141385300G>C	ENST00000536163.1	-	3	504	c.505C>G	c.(505-507)Cac>Gac	p.H169D	KIAA1147_ENST00000482493.1_Missense_Mutation_p.H78D	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	169										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					TCCAAGAAGTGCATGTAGCGG	0.592													51	77	---	---	---	---
ADHFE1	137872	broad.mit.edu	37	8	67356974	67356974	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr8:67356974C>T	ENST00000396623.3	+	5	375	c.344C>T	c.(343-345)aCg>aTg	p.T115M	ADHFE1_ENST00000496501.1_3'UTR|ADHFE1_ENST00000379385.4_Missense_Mutation_p.T115M|ADHFE1_ENST00000415254.1_Missense_Mutation_p.T67M	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	115					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding	p.T67M(1)|p.T115M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GTGGAACCAACGGATTCAAGG	0.438													4	195	---	---	---	---
SMC2	10592	broad.mit.edu	37	9	106876995	106876995	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr9:106876995G>C	ENST00000286398.7	+	13	1844	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T	SMC2_ENST00000303219.8_Missense_Mutation_p.R519T|SMC2_ENST00000374787.3_Missense_Mutation_p.R519T|SMC2_ENST00000374793.3_Missense_Mutation_p.R519T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	519	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACTGGAATAGAAATTGTGTG	0.358													26	54	---	---	---	---
ITIH2	3698	broad.mit.edu	37	10	7745433	7745433	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:7745433T>A	ENST00000358415.4	+	1	202	c.36T>A	c.(34-36)ttT>ttA	p.F12L	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.F12L	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	12					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTGCTTCTTTCTTTCTGAAG	0.428													37	95	---	---	---	---
FAM178A	55719	broad.mit.edu	37	10	102684014	102684014	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr10:102684014C>G	ENST00000238961.4	+	5	1798	c.1256C>G	c.(1255-1257)tCt>tGt	p.S419C	FAM178A_ENST00000370269.3_Missense_Mutation_p.S419C|FAM178A_ENST00000370271.3_Missense_Mutation_p.S419C	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		GGCCACCATTCTACCAGGAAT	0.443													48	65	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104212714	104212714	+	Silent	SNP	T	T	C			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr14:104212714T>C	ENST00000202556.9	-	9	1428	c.1146A>G	c.(1144-1146)aaA>aaG	p.K382K	PPP1R13B_ENST00000423488.2_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	382					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACTCACCGGATTTGGATCTTC	0.607													15	17	---	---	---	---
EPB42	2038	broad.mit.edu	37	15	43500934	43500934	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr15:43500934G>A	ENST00000300215.3	-	7	1419	c.962C>T	c.(961-963)aCg>aTg	p.T321M	EPB42_ENST00000441366.2_Missense_Mutation_p.T291M|EPB42_ENST00000540029.1_Missense_Mutation_p.T213M			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	291					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGAGGCAAACGTGGTCACCAC	0.612													31	54	---	---	---	---
TRAP1	10131	broad.mit.edu	37	16	3713497	3713497	+	Missense_Mutation	SNP	T	T	G	rs143144399		TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr16:3713497T>G	ENST00000575671.1	-	9	1738	c.1009A>C	c.(1009-1011)Aag>Cag	p.K337Q	DNASE1_ENST00000575152.1_3'UTR|DNASE1_ENST00000414110.2_3'UTR|TRAP1_ENST00000246957.5_Missense_Mutation_p.K546Q|TRAP1_ENST00000538171.1_Missense_Mutation_p.K493Q			Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	546					cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				GAGATCAGCTTCTTCTTGTCA	0.552													22	53	---	---	---	---
MYH11	4629	broad.mit.edu	37	16	15808890	15808890	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr16:15808890C>T	ENST00000452625.2	-	41	5770	c.5683G>A	c.(5683-5685)Gag>Aag	p.E1895K	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.E1895K|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.E1888K|MYH11_ENST00000300036.5_Missense_Mutation_p.E1888K	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1888					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCCTCTGCCTCCTCCAGCTGC	0.667			T	CBFB	AML								62	179	---	---	---	---
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr17:47696643A>G	ENST00000393331.3	-	6	775	c.305T>C	c.(304-306)tTc>tCc	p.F102S	SPOP_ENST00000504102.1_Missense_Mutation_p.F102S|SPOP_ENST00000503676.1_Missense_Mutation_p.F102S|SPOP_ENST00000393328.2_Missense_Mutation_p.F102S|SPOP_ENST00000347630.2_Missense_Mutation_p.F102S	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)			55	72	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56246451	56246451	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr18:56246451T>A	ENST00000361673.3	-	4	1770	c.1557A>T	c.(1555-1557)agA>agT	p.R519S		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	519							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TTCCCCCCACTCTCTTGTCAG	0.522											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	48	105	---	---	---	---
DNASE2	1777	broad.mit.edu	37	19	12986907	12986907	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:12986907C>A	ENST00000222219.3	-	6	1072	c.980G>T	c.(979-981)tGt>tTt	p.C327F	DNASE2_ENST00000538460.1_Missense_Mutation_p.C272F	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	327					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CAGCTGGGCACACAGTGTGCC	0.602													37	59	---	---	---	---
CYP2A13	1553	broad.mit.edu	37	19	41595990	41595990	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr19:41595990C>T	ENST00000330436.3	+	3	382	c.382C>T	c.(382-384)Cgg>Tgg	p.R128W		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	128					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CAAGCAGCTCCGGCGCTTCTC	0.701													3	23	---	---	---	---
PDE9A	5152	broad.mit.edu	37	21	44190855	44190855	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr21:44190855G>T	ENST00000291539.6	+	18	1693	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	PDE9A_ENST00000398227.3_Nonsense_Mutation_p.E385*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.E519*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.E418*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.E478*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.E417*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.E443*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.E417*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.E411*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.E485*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.E492*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.E444*|PDE9A_ENST00000398236.3_Nonsense_Mutation_p.E459*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.E504*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	545	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GCCACTTTGGGAATCCCGAGA	0.527													21	6	---	---	---	---
NKAP	79576	broad.mit.edu	37	X	119077407	119077407	+	Silent	SNP	A	A	G			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chrX:119077407A>G	ENST00000371410.3	-	1	328	c.162T>C	c.(160-162)aaT>aaC	p.N54N		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	54	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						GGGTGAGTCCATTCCGGTCCC	0.682													5	1	---	---	---	---
RFPL4B	442247	broad.mit.edu	37	6	112671567	112671568	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-A8FS-01A-11D-A34U-08	TCGA-EJ-A8FS-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90d86eaa-de07-46a6-aa08-8906f255ae65	e3c8391f-2734-44a4-b1d4-729d7637f6d6	g.chr6:112671567_112671568insT	ENST00000441065.2	+	3	969_970	c.657_658insT	c.(658-660)tttfs	p.F220fs		NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	220	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		AAGAAATCCAGTTTTTTGATGT	0.455													17	25	---	---	---	---
