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
SCN8A	6334	broad.mit.edu	37	12	52184279	52184279	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr12:52184279G>A	ENST00000354534.5	+	25	4695	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	SCN8A_ENST00000545061.1_Missense_Mutation_p.R1465H	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1506					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTATTCCCCGCCCCTTGGTA	0.458000													18	19					0	0	1	0	0
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108_splice	c.e1+1	p.Q36_splice	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	497					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542000													4	52					0	0	1	0	0
TFAP2B	7021	broad.mit.edu	37	6	50791398	50791398	+	Silent	SNP	T	T	C			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr6:50791398T>C	ENST00000263046.4	+	3	553	c.387T>C	c.(385-387)tcT>tcC	p.S129S	TFAP2B_ENST00000489228.1_3'UTR|TFAP2B_ENST00000393655.3_Silent_p.S120S			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	120	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGCCGGCTCTCTCCTGCCCC	0.697000													8	17					0	0	1	0	0
GDF2	2658	broad.mit.edu	37	10	48416491	48416491	+	Missense_Mutation	SNP	C	C	T			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr10:48416491C>T	ENST00000249598.1	-	1	362	c.203G>A	c.(202-204)cGc>cAc	p.R68H		NM_016204.1	NP_057288.1	Q9UK05	GDF2_HUMAN	growth differentiation factor 2	68					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						GTTAAGGCTGCGCAGGAAATC	0.577000													7	72					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214818552	214818552	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr1:214818552A>G	ENST00000366955.3	+	13	5807	c.5639A>G	c.(5638-5640)gAa>gGa	p.E1880G		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1976					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TCATCACGTGAAGATATTGGA	0.408000													24	41					0	0	1	0	0
GOT1	2805	broad.mit.edu	37	10	101180440	101180440	+	Missense_Mutation	SNP	G	G	A			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr10:101180440G>A	ENST00000370508.5	-	2	268	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	GOT1_ENST00000543866.1_Missense_Mutation_p.R60W|GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	81					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCACAGCTCCGGAACTCAGCC	0.488000													17	50					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				22	37					0	0	1	0	0
HSPG2	3339	broad.mit.edu	37	1	22202372	22202372	+	Missense_Mutation	SNP	A	A	G			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr1:22202372A>G	ENST00000374695.3	-	24	3246	c.3167T>C	c.(3166-3168)aTt>aCt	p.I1056T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1056	Laminin IV type A 2.				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)	GAAAGGCACAATGAAGGTGCT	0.637000													37	68					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635702	44635702	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr3:44635702G>C	ENST00000322734.2	+	3	350	c.17G>C	c.(16-18)aGa>aCa	p.R6T	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AGAAAGACAAGAAATTTCAAA	0.413000													19	50					0	0	1	0	0
ITPR2	3709	broad.mit.edu	37	12	26732960	26732960	+	Splice_Site	SNP	C	C	T			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr12:26732960C>T	ENST00000381340.3	-	33	4925	c.4509_splice	c.e33+1	p.Q1503_splice		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1503					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTTAACTTACCTGGAGGCTGG	0.368000													23	49					0	0	1	0	0
AMPD2	271	broad.mit.edu	37	1	110171834	110171834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr1:110171834G>T	ENST00000256578.3	+	13	2197	c.1837G>T	c.(1837-1839)Gaa>Taa	p.E613*	AMPD2_ENST00000342115.4_Nonsense_Mutation_p.E532*|AMPD2_ENST00000528667.1_Nonsense_Mutation_p.E613*|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Nonsense_Mutation_p.E495*|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000393688.3_Nonsense_Mutation_p.E494*|AMPD2_ENST00000358729.4_Nonsense_Mutation_p.E538*	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	613					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)		CAGCCACCCGGAACTGCATCT	0.612000													15	49					2.61681e-11	2.71373e-11	1	1	0
SECISBP2	79048	broad.mit.edu	37	9	91954833	91954833	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr9:91954833G>C	ENST00000375807.3	+	9	1338	c.1267G>C	c.(1267-1269)Gag>Cag	p.E423Q	SECISBP2_ENST00000534113.2_Missense_Mutation_p.E355Q|SECISBP2_ENST00000339901.4_Missense_Mutation_p.E350Q	NM_024077.3	NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	423					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGACAGAATAGAGACACCGAA	0.403000													45	52					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587657	43587657	+	RNA	SNP	C	C	T	rs148404065	by1000genomes	TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr17:43587657C>T	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							GGTGACAACACATCTGTTTTA	0.323000													6	138					0	0	1	0	0
EPHB6	0	broad.mit.edu	37	7	142562146	142562146	+	Silent	SNP	C	C	G			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr7:142562146C>G	ENST00000392957.2	+	7	1375	c.588C>G	c.(586-588)gtC>gtG	p.V196V	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.V196V	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN	EPH receptor B6	196						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					AACTGAACGTCAAAGAGCGGA	0.657000													114	225					0	0	1	0	0
ZNF660	285349	broad.mit.edu	37	3	44635791	44635791	+	Missense_Mutation	SNP	G	G	C			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr3:44635791G>C	ENST00000322734.2	+	3	439	c.106G>C	c.(106-108)Gac>Cac	p.D36H	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TCAGTGCTGTGACCCTGCAAC	0.398000													29	64					0	0	1	0	0
KRTAP5-9	3846	broad.mit.edu	37	11	71259896	71259896	+	Missense_Mutation	SNP	T	T	A			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr11:71259896T>A	ENST00000528743.2	+	1	431	c.193T>A	c.(193-195)Tgt>Agt	p.C65S		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	65	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						CTGTGGCTCCTGTGGGGGCTC	0.632000													8	246					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977327	29977327	+	RNA	SNP	T	T	C	rs143365191	by1000genomes	TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr6:29977327T>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA																							GACAGCTGCCTTGTGTGGGAC	0.438000													5	60					0	0	1	0	0
DDX23	9416	broad.mit.edu	37	12	49229995	49229995	+	Missense_Mutation	SNP	T	T	C			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr12:49229995T>C	ENST00000308025.3	-	11	1370	c.1291A>G	c.(1291-1293)Atc>Gtc	p.I431V		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	431	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ACACCAATGATGTCACGATTC	0.507000													50	114					0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70227978	70227978	+	Missense_Mutation	SNP	A	A	G	rs148610030	byFrequency	TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr7:70227978A>G	ENST00000342771.4	+	7	1186	c.865A>G	c.(865-867)Atc>Gtc	p.I289V	AUTS2_ENST00000406775.2_Missense_Mutation_p.I289V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	289										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAAAGAGCCAATCTTTGAGCC	0.587000													14	124					0	0	1	0	0
RPUSD4	84881	broad.mit.edu	37	11	126081384	126081384	+	Silent	SNP	G	G	C			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr11:126081384G>C	ENST00000298317.4	-	1	203	c.150C>G	c.(148-150)ctC>ctG	p.L50L	RPUSD4_ENST00000533628.1_Silent_p.L50L|FAM118B_ENST00000533050.1_5'UTR	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	50					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		TCTGGGCTCGGAGCTTCTCCG	0.572000													14	292					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54157600	54157600	+	Silent	SNP	C	C	A			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr3:54157600C>A	ENST00000474759.1	+	2	231	c.183C>A	c.(181-183)tcC>tcA	p.S61S	CACNA2D3_ENST00000288197.5_Silent_p.S61S|CACNA2D3_ENST00000415676.2_Silent_p.S61S|CACNA2D3_ENST00000490478.1_5'UTR	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	61						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CTAAGTACTCCGGTTCCCAGC	0.493000													4	147					0.150653	0.150653	1	1	0
GGA3	23163	broad.mit.edu	37	17	73236447	73236447	+	Silent	SNP	C	C	T			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr17:73236447C>T	ENST00000245541.6	-	12	1455	c.1239G>A	c.(1237-1239)ggG>ggA	p.G413G	GGA3_ENST00000578348.1_Silent_p.G291G|GGA3_ENST00000538886.1_Silent_p.G291G|GGA3_ENST00000351904.7_Silent_p.G380G|GGA3_ENST00000582717.1_Silent_p.G341G|GGA3_ENST00000582486.1_Silent_p.G341G	NM_138619.2	NP_619525.1	Q9NZ52	GGA3_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 3	413	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			ACTGGCTGTTCCCAGCTGACT	0.577000													5	8					0	0	1	0	0
RP11-103G8.2	0	broad.mit.edu	37	3	150421899	150421900	+	RNA	INS	-	-	C	rs34009900	by1000genomes	TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr3:150421899_150421900insC	ENST00000475393.1	+	0	20				RP11-103G8.2_ENST00000471093.1_RNA																							TTCTGTCCCTGCTCTTCAGCGT	0.545													5	6	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635421	96635423	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr7:96635421_96635423delGCC	ENST00000518156.2	+	1	562_564	c.132_134delGCC	c.(130-135)cag>ca	p.QP44del	DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000452769.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					aacagcaacagccgccgccgccg	0.704													2	4	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													7	19	---	---	---	---					
BAD	572	broad.mit.edu	37	11	64037703	64037703	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr11:64037703delC	ENST00000394532.3	-	3	755	c.485delG	c.(484-486)gafs	p.G162fs	BAD_ENST00000544785.1_Frame_Shift_Del_p.G98fs|BAD_ENST00000309032.3_Frame_Shift_Del_p.G162fs	NM_004322.3	NP_004313.1	Q92934	BAD_HUMAN	BCL2-associated agonist of cell death	162					activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation	cytosol|mitochondrial outer membrane	caspase activator activity|phospholipid binding|protein kinase binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4						GGCGGAGCTTCCCCTGCCCAA	0.632													21	37	---	---	---	---					
HAMP	57817	broad.mit.edu	37	19	35773520	35773522	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr19:35773520_35773522delCTC	ENST00000598398.1	+	2	336_338	c.40_42delCTC	c.(40-42)del	p.L18del	HAMP_ENST00000222304.3_In_Frame_Del_p.L18del	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	18					defense response to bacterium|defense response to fungus|immune response|killing of cells of other organism	extracellular region	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGCCTCCTGCTCCTCCTCCTCC	0.640													7	243	---	---	---	---					
TMPRSS15	5651	broad.mit.edu	37	21	19737548	19737548	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EL-A4K9-01A-11D-A257-08	TCGA-EL-A4K9-11A-11D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5c0848-0ee6-4f67-add4-0ce0c2eb0bc0	2638fafa-f3fb-4f4d-b228-8ed3fdeaf43a	g.chr21:19737548delT	ENST00000284885.3	-	7	715	c.682delA	c.(682-684)gafs	p.R228fs		NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN	transmembrane protease, serine 15	228	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AACAAAAATCTTCCATCACAA	0.378													36	77	---	---	---	---					
