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
EPHA7	2045	broad.mit.edu	37	6	93979264	93979264	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr6:93979264C>T	ENST00000369303.4	-	7	1748	c.1564G>A	c.(1564-1566)Ggt>Agt	p.G522S		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	522	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TTTCCATAACCAGCAGCAGTA	0.403000													10	97					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32053673	32053673	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr6:32053673G>A	ENST00000375244.3	-	7	3203	c.3002C>T	c.(3001-3003)cCg>cTg	p.P1001L	TNXB_ENST00000375247.2_Missense_Mutation_p.P1001L			P22105	TENX_HUMAN	tenascin XB	1088	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATGTGCCCCCGGCCCCTCGGG	0.667000													23	32					0	0	1	0	0
DSTN	11034	broad.mit.edu	37	20	17581417	17581417	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr20:17581417G>A	ENST00000246069.7	+	2	384	c.38G>A	c.(37-39)cGc>cAc	p.R13H	DSTN_ENST00000474024.1_5'UTR	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)		ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GAAGTATGTCGCATTTTTTAT	0.343000													18	18					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185801237	185801237	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr2:185801237G>A	ENST00000302277.6	+	4	1708	c.1114G>A	c.(1114-1116)Gtg>Atg	p.V372M		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	372						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TTGCATATCTGTGCAAGCTAC	0.383000													22	34					0	0	1	0	0
GPM6A	2823	broad.mit.edu	37	4	176556182	176556182	+	Silent	SNP	G	G	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr4:176556182G>T	ENST00000280187.7	-	8	756	c.711C>A	c.(709-711)gcC>gcA	p.A237A	GPM6A_ENST00000515090.1_Silent_p.A230A|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000393658.2_Silent_p.A237A|GPM6A_ENST00000506894.1_Silent_p.A226A	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	237						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		AGGCCCAGTTGGCAGACAGAA	0.423000													15	20					0.000308642	0.000322061	1	1	0
NBEAP1	606	broad.mit.edu	37	15	20874927	20874927	+	RNA	SNP	T	T	A	rs62000629	by1000genomes	TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr15:20874927T>A	ENST00000556948.1	-	0	321																											GCAGTTCCAATAAATTCAGCA	0.313000													7	42					0	0	1	0	0
RETSAT	54884	broad.mit.edu	37	2	85581494	85581494	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr2:85581494G>A	ENST00000295802.4	-	1	249	c.137C>T	c.(136-138)aCt>aTt	p.T46I	RETSAT_ENST00000457495.2_Missense_Mutation_p.T46I|RETSAT_ENST00000263854.6_Missense_Mutation_p.T46I	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	46					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	CTCCTTGTCAGTTACCAGGGG	0.567000													80	98					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90087002	90087002	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr5:90087002A>T	ENST00000405460.2	+	70	14452	c.14356A>T	c.(14356-14358)Aac>Tac	p.N4786Y	GPR98_ENST00000425867.2_Missense_Mutation_p.N447Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4786					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATCCAAATTAACATAACCCG	0.433000													14	17					0	0	1	0	0
PDE6B	5158	broad.mit.edu	37	4	650710	650710	+	Silent	SNP	C	C	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr4:650710C>A	ENST00000255622.6	+	9	1198	c.1155C>A	c.(1153-1155)tcC>tcA	p.S385S	PDE6B_ENST00000496514.1_Silent_p.S385S|PDE6B_ENST00000429163.2_Silent_p.S106S	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	385	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ATGTGCTGTCCATGCCCATCG	0.602000													11	14					0.0135373	0.0135373	1	1	0
MAZ	4150	broad.mit.edu	37	16	29821444	29821444	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr16:29821444A>G	ENST00000563402.1	+	3	426	c.295A>G	c.(295-297)Agc>Ggc	p.S99G	MAZ_ENST00000562337.1_Silent_p.A137A|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000322945.6_Silent_p.A442A|MAZ_ENST00000566906.2_Missense_Mutation_p.S97G|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000568544.1_Silent_p.A43A|MAZ_ENST00000219782.6_3'UTR|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000545521.1_Silent_p.A419A			P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	99	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						cagcggcggcagcggcagcag	0.662000													4	15					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351273	10351273	+	Silent	SNP	G	G	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr17:10351273G>T	ENST00000255381.2	-	34	4937	c.4827C>A	c.(4825-4827)atC>atA	p.I1609I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1609					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTGCTCCTGATCTCAGCAT	0.458000													64	68					9.4991e-31	1.08561e-30	1	1	0
KDM6A	7403	broad.mit.edu	37	X	44949124	44949124	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chrX:44949124C>T	ENST00000377967.4	+	25	3726	c.3685C>T	c.(3685-3687)Cag>Tag	p.Q1229*	KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q1236*|KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q1150*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q1184*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1229	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCATTGGGTTCAGGCTATTGG	0.358000			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""								30	1					0	0	1	0	0
SCAF8	22828	broad.mit.edu	37	6	155123135	155123135	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr6:155123135C>T	ENST00000367178.3	+	7	1213	c.637C>T	c.(637-639)Caa>Taa	p.Q213*	SCAF8_ENST00000367186.4_Nonsense_Mutation_p.Q279*|SCAF8_ENST00000417268.1_Nonsense_Mutation_p.Q213*	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	213	Gln-rich.				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTTACAGATACAACAACAGAA	0.428000													24	27					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123202465	123202465	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chrX:123202465C>T	ENST00000371160.1	+	24	2607	c.2317C>T	c.(2317-2319)Caa>Taa	p.Q773*	STAG2_ENST00000354548.5_Nonsense_Mutation_p.Q704*|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.Q773*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.Q773*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.Q773*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.Q773*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	773					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCAGATATGTCAACATTACCT	0.284000													21	1					0	0	1	0	0
RAPGEF4	11069	broad.mit.edu	37	2	173881076	173881076	+	Splice_Site	SNP	G	G	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr2:173881076G>T	ENST00000264111.6	+	19	1993		c.e19-1		RAPGEF4_ENST00000409036.1_Splice_Site|RAPGEF4_ENST00000539331.1_Splice_Site|RAPGEF4_ENST00000538974.1_Splice_Site|RAPGEF4_ENST00000397087.3_Splice_Site|RAPGEF4_ENST00000540783.1_Splice_Site|RAPGEF4_ENST00000535187.1_Splice_Site|RAPGEF4_ENST00000397081.3_Splice_Site			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4						blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCCAATTACAGGAGTTTTATG	0.433000													23	24					7.33532e-06	7.82434e-06	1	1	0
AKAP1	8165	broad.mit.edu	37	17	55197640	55197640	+	Silent	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr17:55197640G>A	ENST00000337714.3	+	11	2900	c.2667G>A	c.(2665-2667)gaG>gaA	p.E889E	AKAP1_ENST00000539273.1_Silent_p.E889E|AKAP1_ENST00000571629.1_Silent_p.E889E|AKAP1_ENST00000572557.1_Silent_p.E889E	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	889					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCTGGTGGAGCGAGGCCTTG	0.507000													18	33					0	0	1	0	0
CYGB	114757	broad.mit.edu	37	17	74533613	74533613	+	Silent	SNP	C	C	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr17:74533613C>T	ENST00000293230.5	-	1	374	c.12G>A	c.(10-12)gtG>gtA	p.V4V	CYGB_ENST00000589145.1_Intron|CYGB_ENST00000589342.1_Silent_p.V4V|PRCD_ENST00000592432.1_Intron	NM_134268.4	NP_599030.1	Q8WWM9	CYGB_HUMAN	cytoglobin	4					response to oxidative stress	cytoplasm	heme binding|oxygen binding|oxygen transporter activity|peroxidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)	7						TCTCGCCTGGCACTTTCTCCA	0.741000													3	21					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151891118	151891118	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr7:151891118G>A	ENST00000355193.2	-	31	4854	c.4636C>T	c.(4636-4638)Cag>Tag	p.Q1546*	KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1546*					lysine (K)-specific methyltransferase 2C																		GGCAACAGCTGTGTTGGTGGG	0.423000													35	43					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64537484	64537484	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr11:64537484T>G	ENST00000377390.3	-	5	768	c.431A>C	c.(430-432)cAa>cCa	p.Q144P	SF1_ENST00000422298.2_Missense_Mutation_p.Q29P|SF1_ENST00000433274.2_Missense_Mutation_p.Q118P|SF1_ENST00000334944.5_Missense_Mutation_p.Q144P|SF1_ENST00000227503.9_Missense_Mutation_p.Q144P|SF1_ENST00000377394.3_Missense_Mutation_p.Q144P|SF1_ENST00000377387.1_Missense_Mutation_p.Q269P	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	144	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GTACTCATCTTGTGGAATCAT	0.473000													18	16					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143742675	143742675	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr2:143742675T>A	ENST00000264170.4	+	9	1010	c.752T>A	c.(751-753)cTa>cAa	p.L251Q	KYNU_ENST00000409512.1_Missense_Mutation_p.L251Q|KYNU_ENST00000375773.2_Missense_Mutation_p.L251Q	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	251					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	GGCTTTGATCTAGCACATGCA	0.343000													22	38					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166300554	166300554	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr4:166300554G>A	ENST00000402744.4	+	1	461	c.181G>A	c.(181-183)Gag>Aag	p.E61K		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	61					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGAGCTGCGCGAGGCGCTCGT	0.711000													6	5					0	0	1	0	0
NSUN2	54888	broad.mit.edu	37	5	6625783	6625783	+	Splice_Site	SNP	C	C	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr5:6625783C>A	ENST00000264670.6	-	4	671		c.e4-1		NSUN2_ENST00000539938.1_Splice_Site|NSUN2_ENST00000506139.1_Splice_Site	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2							cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TTCAGGATACCTGACCAAAAA	0.363000													18	13					9.16793e-09	1.00014e-08	1	1	0
C5orf46	389336	broad.mit.edu	37	5	147281188	147281188	+	Nonstop_Mutation	SNP	T	T	G			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr5:147281188T>G	ENST00000515291.1	-	2	255	c.219A>C	c.(217-219)taA>taC	p.*73Y	C5orf46_ENST00000510432.1_Intron|C5orf46_ENST00000318315.4_Intron			Q6UWT4	CE046_HUMAN	chromosome 5 open reading frame 46	0						extracellular region				NS(1)|lung(1)|prostate(1)	3						TTCTCAGTGCTTACGTGCTCC	0.443000													12	19					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129569227	129569227	+	Silent	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr12:129569227G>A	ENST00000422113.2	-	6	1790	c.1464C>T	c.(1462-1464)taC>taT	p.Y488Y	TMEM132D_ENST00000389441.4_Silent_p.Y26Y	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	488						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGACAAAGACGTAGTCACATC	0.527000													15	19					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1806099	1806099	+	Missense_Mutation	SNP	A	A	G	rs121913485		TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr4:1806099A>G	ENST00000340107.4	+	9	1380	c.1124A>G	c.(1123-1125)tAt>tGt	p.Y375C	FGFR3_ENST00000352904.1_Intron|FGFR3_ENST00000260795.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000481110.2_Missense_Mutation_p.Y373C|FGFR3_ENST00000412135.2_Intron|FGFR3_ENST00000440486.2_Missense_Mutation_p.Y373C	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	373			G -> C (in ACH).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.Y373C(395)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	GGCAGTGTGTATGCAGGCATC	0.682000	Y373C(KMS11_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				58	61					0	0	1	0	0
ATP6V0B	533	broad.mit.edu	37	1	44442760	44442760	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr1:44442760G>A	ENST00000532642.1	+	7	560	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	ATP6V0B_ENST00000472277.1_3'UTR|ATP6V0B_ENST00000472174.2_Missense_Mutation_p.V155M|ATP6V0B_ENST00000471859.2_Missense_Mutation_p.V202M|ATP6V0B_ENST00000236067.4_Missense_Mutation_p.V108M|ATP6V0B_ENST00000498664.1_Missense_Mutation_p.V108M			Q99437	VATO_HUMAN	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	155			V -> M (in a breast cancer sample; somatic mutation).		ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transmembrane transporter activity	p.V155M(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGGAGTCTGCGTGGGCATCGT	0.592000													30	36					0	0	1	0	0
KIAA0825	285600	broad.mit.edu	37	5	93859772	93859772	+	Missense_Mutation	SNP	C	C	T	rs147120237		TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr5:93859772C>T	ENST00000513200.3	-	3	235	c.163G>A	c.(163-165)Gaa>Aaa	p.E55K	KIAA0825_ENST00000312498.7_Missense_Mutation_p.E55K|KIAA0825_ENST00000329378.7_Missense_Mutation_p.E55K|KIAA0825_ENST00000427991.2_Missense_Mutation_p.E55K	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN	KIAA0825	55										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						TTGTTAATTTCGGACTGTATC	0.323000													15	25					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171242783	171242783	+	Splice_Site	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr2:171242783G>A	ENST00000334231.6	+	13	1401		c.e13+1		MYO3B_ENST00000602629.1_Splice_Site|MYO3B_ENST00000409044.3_Splice_Site|MYO3B_ENST00000408978.4_Splice_Site			Q8WXR4	MYO3B_HUMAN	myosin IIIB						response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTTGGGAAAGGTATTGACTAA	0.428000													15	10					0	0	1	0	0
NOS3	4846	broad.mit.edu	37	7	150706330	150706330	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr7:150706330G>A	ENST00000297494.3	+	19	2656	c.2299G>A	c.(2299-2301)Gaa>Aaa	p.E767K	NOS3_ENST00000461406.1_Missense_Mutation_p.E561K	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	767	FAD-binding FR-type.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCGCTCAGTGGAAAACCTGCA	0.622000													10	15					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42529989	42529989	+	Silent	SNP	C	C	T	rs149073567	byFrequency	TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr18:42529989C>T	ENST00000282030.5	+	4	980	c.684C>T	c.(682-684)agC>agT	p.S228S		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	228						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACTCTGACAGCGGACCCGTCA	0.552000									Schinzel-Giedion syndrome				25	30					0	0	1	0	0
PSAT1	29968	broad.mit.edu	37	9	80943085	80943085	+	Missense_Mutation	SNP	T	T	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr9:80943085T>A	ENST00000376588.3	+	8	1056	c.988T>A	c.(988-990)Ttg>Atg	p.L330M	PSAT1_ENST00000347159.2_Intron	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	330					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	ACTCAATATGTTGTCCTTGAA	0.363000													14	23					0	0	1	0	0
UBTF	7343	broad.mit.edu	37	17	42289362	42289362	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr17:42289362C>T	ENST00000302904.4	-	9	1276	c.784G>A	c.(784-786)Gac>Aac	p.D262N	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.D225N|UBTF_ENST00000526094.1_Missense_Mutation_p.D225N|UBTF_ENST00000529383.1_Missense_Mutation_p.D262N|UBTF_ENST00000527034.1_Missense_Mutation_p.D225N|UBTF_ENST00000533177.1_Missense_Mutation_p.D225N|UBTF_ENST00000343638.5_Missense_Mutation_p.D225N|UBTF_ENST00000436088.1_Missense_Mutation_p.D262N			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	262					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGATATAGTCTCTCATGATC	0.612000													21	27					0	0	1	0	0
SF1	7536	broad.mit.edu	37	11	64537455	64537455	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr11:64537455C>A	ENST00000377390.3	-	5	797	c.460G>T	c.(460-462)Ggg>Tgg	p.G154W	SF1_ENST00000422298.2_Missense_Mutation_p.G39W|SF1_ENST00000433274.2_Missense_Mutation_p.G128W|SF1_ENST00000334944.5_Missense_Mutation_p.G154W|SF1_ENST00000227503.9_Missense_Mutation_p.G154W|SF1_ENST00000377394.3_Missense_Mutation_p.G154W|SF1_ENST00000377387.1_Missense_Mutation_p.G279W	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	154	KH.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						ATGAGCAGCCCCACAAAGTTG	0.473000													11	20					9.05144e-12	1.01039e-11	1	1	0
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8									p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308000													4	34					0	0	1	0	0
IHH	3549	broad.mit.edu	37	2	219920548	219920548	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr2:219920548G>A	ENST00000295731.6	-	3	616	c.617C>T	c.(616-618)gCc>gTc	p.A206V		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGGGCTCCGGCAGGGAAGCA	0.672000													3	20					0	0	1	0	0
TAOK1	57551	broad.mit.edu	37	17	27822581	27822581	+	Missense_Mutation	SNP	A	A	G			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr17:27822581A>G	ENST00000261716.3	+	11	1354	c.835A>G	c.(835-837)Ata>Gta	p.I279V	TAOK1_ENST00000536202.1_Missense_Mutation_p.I279V	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	279	Protein kinase.				mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			TATCTAGCACATATTTGTTCT	0.393000													22	46					0	0	1	0	0
RPL4	6124	broad.mit.edu	37	15	66795866	66795866	+	Splice_Site	SNP	G	G	A	rs146777407		TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr15:66795866G>A	ENST00000307961.6	-	2	97	c.5C>T	c.(4-6)gCg>gTg	p.A2V	RPL4_ENST00000568588.1_5'UTR	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	2					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						GCGAGCACACGCCTAAAGAAA	0.408000													15	13					0	0	1	0	0
SGIP1	84251	broad.mit.edu	37	1	67099769	67099769	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr1:67099769delA	ENST00000237247.6	+	5	244	c.106delA	c.(106-108)aaafs	p.K38fs	SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000468286.1_Intron|SGIP1_ENST00000371037.4_Intron|SGIP1_ENST00000371039.1_Intron			Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	38					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TCAGCAGGGGAAAAAAAAGAC	0.428													2	4	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-CF-A47W-01A-11D-A23U-08	TCGA-CF-A47W-10A-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624a775c-ddd1-4617-951a-3e090408af51	41c093e4-43df-448b-970b-c8d52674d99c	g.chr15:23312380delT	ENST00000560464.1	-	0	3118																											TGTTAttttcttttttttttt	0.398													2	4	---	---	---	---