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
GBF1	8729	broad.mit.edu	37	10	104120022	104120022	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr10:104120022G>A	ENST00000369983.3	+	12	1519	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	GBF1_ENST00000476019.1_Intron	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	420					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCACACGACCGCCATAACTCA	0.582000													6	300					0	0	0.001984	0	0
CACNA1D	776	broad.mit.edu	37	3	53757947	53757947	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:53757947G>A	ENST00000288139.3	+	15	2199	c.2081G>A	c.(2080-2082)gGc>gAc	p.G694D	CACNA1D_ENST00000350061.5_Missense_Mutation_p.G674D|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G674D	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	674					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGTTTGGCGGCAAGTTTAAT	0.458000													4	179					0	0	0.009096	0	0
SIN3B	23309	broad.mit.edu	37	19	16952630	16952630	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:16952630C>T	ENST00000379803.1	+	4	447	c.433C>T	c.(433-435)Ccg>Tcg	p.P145S	SIN3B_ENST00000248054.5_Missense_Mutation_p.P145S|SIN3B_ENST00000596802.1_Missense_Mutation_p.P145S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	145					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCAGCAGGTGCCGTATAAAGA	0.522000													4	119					0	0	0.000602	0	0
ZKSCAN1	7586	broad.mit.edu	37	7	99631796	99631796	+	Silent	SNP	C	C	T	rs147984747	byFrequency	TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr7:99631796C>T	ENST00000324306.6	+	6	1902	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	ZKSCAN1_ENST00000426572.1_Silent_p.G520G|ZKSCAN1_ENST00000535170.1_Silent_p.G343G	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	556					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			ATGCATTTGGCGCGTTCCTGA	0.498000													5	205					0	0	0.000602	0	0
CTNNB1	1499	broad.mit.edu	37	3	41280717	41280717	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:41280717C>A	ENST00000349496.5	+	15	2510	c.2230C>A	c.(2230-2232)Cct>Act	p.P744T	CTNNB1_ENST00000396183.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000471014.1_3'UTR|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P744T|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P744T|CTNNB1_ENST00000453024.1_Missense_Mutation_p.P737T	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	744					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TGGCCACCACCCTGGTGCTGA	0.557000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of				6	90					3.59834e-05	4.87516e-05	0.001168	1	0
TCEB2	6923	broad.mit.edu	37	16	2825510	2825510	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr16:2825510G>A	ENST00000409477.1	-	2	250	c.171C>T	c.(169-171)ttC>ttT	p.F57F	TCEB2_ENST00000409906.4_Silent_p.F62F|TCEB2_ENST00000262306.7_Silent_p.F62F|TCEB2_ENST00000572954.1_Intron			Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	62	Ubiquitin-like.				positive regulation of viral transcription|protein complex assembly|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|prostate(1)	3						TTTGACTGGTGAAGCCACACT	0.617000													5	31					0	0	0.001168	0	0
RAD18	56852	broad.mit.edu	37	3	8990195	8990195	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:8990195C>T	ENST00000264926.2	-	3	309	c.193G>A	c.(193-195)Gtg>Atg	p.V65M	RAD18_ENST00000495087.1_5'UTR	NM_020165.3	NP_064550.3	Q9NS91	RAD18_HUMAN	RAD18 homolog (S. cerevisiae)	65					DNA repair	nucleus|replication fork	damaged DNA binding|ligase activity|ubiquitin protein ligase binding|Y-form DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(3)	15				OV - Ovarian serous cystadenocarcinoma(96;0.0552)		AAACTCACCACACAGCAAGTT	0.338000								Rad6 pathway					4	155					0	0	0.000602	0	0
VIPAS39	63894	broad.mit.edu	37	14	77904217	77904217	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr14:77904217T>C	ENST00000553888.1	-	12	1280	c.770A>G	c.(769-771)cAt>cGt	p.H257R	VIPAS39_ENST00000556412.1_Missense_Mutation_p.H283R|VIPAS39_ENST00000327028.4_Missense_Mutation_p.H244R|VIPAS39_ENST00000343765.2_Missense_Mutation_p.H257R|VIPAS39_ENST00000448935.2_Missense_Mutation_p.H208R|VIPAS39_ENST00000557658.1_Missense_Mutation_p.H257R	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2			VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog																		CTCTCGATAATGAGATAGCTA	0.348000													4	135					0	0	0.000602	0	0
CCT6P1	0	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr7:65222986G>T	ENST00000442266.1	+	0	578																											GAATTCTGGCGTTTTTTACAA	0.289000													3	34					0.004672	0.006132	0.004672	1	0
RASSF1	11186	broad.mit.edu	37	3	50368106	50368106	+	Missense_Mutation	SNP	C	C	T	rs142957899		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:50368106C>T	ENST00000359365.4	-	6	1035	c.929G>A	c.(928-930)cGg>cAg	p.R310Q	RASSF1_ENST00000395126.3_Missense_Mutation_p.R159Q|RASSF1_ENST00000357043.2_Missense_Mutation_p.R314Q|RASSF1_ENST00000327761.3_Missense_Mutation_p.R240Q	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	314	SARAH.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CTCCTCCTCCCGCTGCAGGAT	0.587000													27	90					0	0	0.005443	0	0
SPEF2	79925	broad.mit.edu	37	5	35800129	35800129	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr5:35800129G>A	ENST00000440995.2	+	34	4875	c.4875G>A	c.(4873-4875)caG>caA	p.Q1625Q	SPEF2_ENST00000303129.4_Silent_p.Q427Q|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Silent_p.Q1630Q			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1630					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ACTACACACAGATGCTGCTTT	0.463000													8	268					0	0	0.004482	0	0
PLCB2	5330	broad.mit.edu	37	15	40585837	40585837	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr15:40585837C>T	ENST00000260402.3	-	20	2399	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	PLCB2_ENST00000456256.2_Missense_Mutation_p.R717H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R713H	NM_004573.2	NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	717	C2.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		AGTTCGATAGCGCCTCTTGGG	0.582000													4	136					0	0	0.009096	0	0
TRIM51HP	0	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2																						GATGGGACAGGTGAGTTCCCT	0.483000													4	25					0	0	0.009096	0	0
ABCC6	368	broad.mit.edu	37	16	16256941	16256941	+	Missense_Mutation	SNP	C	C	T	rs63750146		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr16:16256941C>T	ENST00000205557.7	-	24	3444	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	1139	ABC transmembrane type-1 2.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GTTCGGAATGCCCGGACCACT	0.582000													4	156					0	0	0.000602	0	0
USP40	55230	broad.mit.edu	37	2	234389870	234389870	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr2:234389870C>T	ENST00000251722.6	-	31	3692	c.3575G>A	c.(3574-3576)cGg>cAg	p.R1192Q	USP40_ENST00000450966.1_Missense_Mutation_p.R1204Q|USP40_ENST00000427112.2_Missense_Mutation_p.R1192Q			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	1192					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CCCCAGGGCCCGTTGTTTCTG	0.453000													3	19					0	0	0.009096	0	0
KLHL40	131377	broad.mit.edu	37	3	42727577	42727577	+	Missense_Mutation	SNP	T	T	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr3:42727577T>A	ENST00000287777.4	+	1	567	c.467T>A	c.(466-468)aTc>aAc	p.I156N		NM_152393.2	NP_689606.2			kelch-like family member 40																		CGCGACTTCATCTGCGCTCAC	0.657000													9	60					0	0	0.006214	0	0
SLIT2	9353	broad.mit.edu	37	4	20259495	20259495	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr4:20259495C>T	ENST00000504154.1	+	3	508	c.256C>T	c.(256-258)Ctt>Ttt	p.L86F	SLIT2_ENST00000503837.1_Missense_Mutation_p.L86F|SLIT2_ENST00000503823.1_Missense_Mutation_p.L86F|SLIT2_ENST00000273739.5_Missense_Mutation_p.L86F	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	86					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TTTCAGTCAGCTTATGGAGAA	0.333000													5	189					0	0	0.000602	0	0
MCF2L	23263	broad.mit.edu	37	13	113742643	113742643	+	Silent	SNP	G	G	A			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr13:113742643G>A	ENST00000397030.1	+	24	2827	c.2790G>A	c.(2788-2790)gcG>gcA	p.A930A	MCF2L_ENST00000375597.4_Silent_p.A895A|MCF2L_ENST00000535094.2_Silent_p.A897A|MCF2L_ENST00000375601.3_Silent_p.A901A|MCF2L_ENST00000434480.2_Silent_p.A903A|MCF2L_ENST00000375604.2_Silent_p.A954A|MCF2L_ENST00000442652.2_Silent_p.A927A|MCF2L_ENST00000423482.2_Silent_p.A895A|MCF2L_ENST00000421756.1_Silent_p.A901A|MCF2L_ENST00000375608.3_Silent_p.A927A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	927	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGAAACAGGCGCCAACTCCTG	0.522000													5	187					0	0	0.001168	0	0
RFPL1	5988	broad.mit.edu	37	22	29835022	29835022	+	Missense_Mutation	SNP	G	G	C			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr22:29835022G>C	ENST00000354373.2	+	1	451	c.242G>C	c.(241-243)tGt>tCt	p.C81S	RFPL1S_ENST00000461286.2_RNA	NM_021026.2	NP_066306.2	O75677	RFPL1_HUMAN	ret finger protein-like 1	81							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						TGCTGTTGCTGTTCCATGGTC	0.517000													42	151					0	0	0.008740	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	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				26	72					0	0	0.003954	0	0
MYT1L	23040	broad.mit.edu	37	2	1907015	1907015	+	Missense_Mutation	SNP	G	G	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr2:1907015G>T	ENST00000399161.2	-	14	2616	c.1869C>A	c.(1867-1869)aaC>aaA	p.N623K	MYT1L_ENST00000428368.2_Missense_Mutation_p.N621K	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	623					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGGGGACATTGTTTCTGTAGC	0.458000													6	43					5.4927e-09	7.68978e-09	0.004482	1	0
ZNF616	90317	broad.mit.edu	37	19	52618688	52618688	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:52618688A>G	ENST00000600228.1	-	4	1990	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		TTGCATTTGTAAGGTTTCTCT	0.418000													3	77					0	0	0.004672	0	0
SAA2	6289	broad.mit.edu	37	11	18266989	18266989	+	Missense_Mutation	SNP	T	T	C			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr11:18266989T>C	ENST00000526900.1	-	4	487	c.304A>G	c.(304-306)Aaa>Gaa	p.K102E	SAA2_ENST00000256733.4_Missense_Mutation_p.K102E|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Missense_Mutation_p.K102E|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron					serum amyloid A2									p.K102E(2)		central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						CTGCCCCATTTATTGGCAGCC	0.572000													3	54					0	0	0.004672	0	0
C3	718	broad.mit.edu	37	19	6682003	6682003	+	Silent	SNP	C	C	T			TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr19:6682003C>T	ENST00000245907.6	-	35	4391	c.4299G>A	c.(4297-4299)gaG>gaA	p.E1433E		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1433	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTTGTCCAGCTCATACTTGG	0.562000													57	169					0	0	0.014410	0	0
WDR73	84942	broad.mit.edu	37	15	85186877	85186894	+	In_Frame_Del	DEL	CTTGGCTCCGTGTTCCAT	CTTGGCTCCGTGTTCCAT	-	rs143462247		TCGA-BJ-A0Z3-01A-11D-A13W-08	TCGA-BJ-A0Z3-10A-01D-A13W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc420533-cb1a-4038-a98f-3e18292c4252	f8ab72e7-99c0-43c5-8f30-6a7895e91015	g.chr15:85186877_85186894delCTTGGCTCCGTGTTCCAT	ENST00000434634.2	-	8	1004_1021	c.944_961delATGGAACACGGAGCCAAG	c.(943-963)gta>g	p.DGTRSQV315del	WDR73_ENST00000398528.3_5'UTR	NM_032856.2	NP_116245.2	Q6P4I2	WDR73_HUMAN	WD repeat domain 73	315										cervix(1)|large_intestine(1)|lung(1)	3						AGAGGTTCTACTTGGCTCCGTGTTCCATCTTGGCTCCG	0.509													10	39	---	---	---	---					
