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
CACNA1C	775	broad.mit.edu	37	12	2614030	2614030	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:2614030A>G	ENST00000399655.1	+	8	1401	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G	CACNA1C_ENST00000335762.5_Missense_Mutation_p.D379G|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D379G|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D379G|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D379G|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D379G|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D379G	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	379					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GTAGGAAGGGACTGGCCCTGG	0.512000													10	17					0	0	0.080935	0	0
BRIP1	83990	broad.mit.edu	37	17	59761320	59761320	+	Silent	SNP	A	A	G			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr17:59761320A>G	ENST00000259008.2	-	20	3354	c.3087T>C	c.(3085-3087)agT>agC	p.S1029S		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1029	Interaction with BRCA1.				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GACTAGAGGCACTATTCTCTG	0.403000			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks					4	107					0	0	0.009096	0	0
SLC34A2	10568	broad.mit.edu	37	4	25678162	25678162	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr4:25678162T>C	ENST00000382051.3	+	13	1914	c.1864T>C	c.(1864-1866)Tgc>Cgc	p.C622R	SLC34A2_ENST00000503434.1_Missense_Mutation_p.C621R|SLC34A2_ENST00000504570.1_Missense_Mutation_p.C621R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415.2	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	622	Cys-rich.				cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.C622delC(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				ctgctgctgctgccgcgtgtg	0.657000			T	ROS1	NSCLC								12	36					0	0	0.093190	0	0
CHST10	9486	broad.mit.edu	37	2	101009934	101009934	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr2:101009934G>A	ENST00000264249.3	-	7	1229	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	CHST10_ENST00000409701.1_Missense_Mutation_p.H282Y|CHST10_ENST00000542617.1_Missense_Mutation_p.H330Y	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	282					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTCTCGTGGTGTCCAATCACA	0.522000													21	90					0	0	0.049695	0	0
C16orf87	388272	broad.mit.edu	37	16	46843651	46843651	+	Silent	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:46843651T>C	ENST00000285697.4	-	3	471	c.210A>G	c.(208-210)agA>agG	p.R70R	C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron	NM_001001436.2	NP_001001436.1	Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	70										large_intestine(4)|urinary_tract(1)	5						TTATCTTCTCTCTCCTAACTC	0.388000													3	115					0	0	0.009096	0	0
ASH1L	55870	broad.mit.edu	37	1	155491033	155491033	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr1:155491033G>C	ENST00000368346.3	-	2	917	c.278C>G	c.(277-279)gCt>gGt	p.A93G	ASH1L_ENST00000392403.3_Missense_Mutation_p.A93G|ASH1L_ENST00000548830.1_Missense_Mutation_p.A93G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	93					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AGTTCTCTTAGCCTGGAGGCC	0.383000													8	222					0	0	0.038147	0	0
MUC17	140453	broad.mit.edu	37	7	100680525	100680525	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr7:100680525T>C	ENST00000306151.4	+	3	5892	c.5828T>C	c.(5827-5829)aTc>aCc	p.I1943T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1943	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AGTTCTGAAATCAACACCCTT	0.498000													4	331					0	0	0.014758	0	0
IFT140	9742	broad.mit.edu	37	16	1570247	1570247	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:1570247T>C	ENST00000426508.2	-	28	4121	c.3758A>G	c.(3757-3759)tAc>tGc	p.Y1253C	IFT140_ENST00000361339.5_Missense_Mutation_p.Y447C	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1253										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGACTGCAGGTAGTTAGCAGC	0.562000													4	110					0	0	0.009096	0	0
SCAF4	57466	broad.mit.edu	37	21	33073397	33073397	+	Missense_Mutation	SNP	T	T	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr21:33073397T>C	ENST00000286835.7	-	7	1070	c.688A>G	c.(688-690)Atc>Gtc	p.I230V	SCAF4_ENST00000434667.3_Missense_Mutation_p.I215V|SCAF4_ENST00000399804.1_Missense_Mutation_p.I230V	NM_020706.2	NP_065757.1	O95104	SFR15_HUMAN	SR-related CTD-associated factor 4	230						nucleus	nucleotide binding|RNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						TGAGCTGTGATAGCCTGAACC	0.453000													16	52					0	0	0.038395	0	0
KIF4B	285643	broad.mit.edu	37	5	154393468	154393468	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr5:154393468C>T	ENST00000435029.4	+	1	209	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	17	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCGTTGTCGCCCTCTGGT	0.542000													16	59					0	0	0.033300	0	0
ORC1	4998	broad.mit.edu	37	1	52851596	52851596	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr1:52851596G>A	ENST00000371568.3	-	9	1627	c.1409C>T	c.(1408-1410)gCc>gTc	p.A470V	ORC1_ENST00000371566.1_Missense_Mutation_p.A470V	NM_001190818.1|NM_001190819.1|NM_004153.3	NP_001177747.1|NP_001177748.1|NP_004144.2	Q13415	ORC1_HUMAN	origin recognition complex, subunit 1	470					cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGAGGAGCGGCACAACGTGG	0.512000													5	29					0	0	0.014758	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													4	43					0	0	0.014758	0	0
COG7	91949	broad.mit.edu	37	16	23453819	23453819	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr16:23453819C>T	ENST00000307149.5	-	4	768	c.583G>A	c.(583-585)Gca>Aca	p.A195T		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	195					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		GAGGTGAATGCCGCTACAATC	0.458000													4	99					0	0	0.009096	0	0
RBM17	84991	broad.mit.edu	37	10	6150700	6150700	+	Missense_Mutation	SNP	A	A	C			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr10:6150700A>C	ENST00000446108.1	+	6	1201	c.557A>C	c.(556-558)aAa>aCa	p.K186T	RBM17_ENST00000379888.4_Missense_Mutation_p.K186T	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	186					mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						GAGAAAGACAAAGAGTGTAAG	0.488000											OREG0019990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	19					0	0	0.014758	0	0
TBP	6908	broad.mit.edu	37	6	170871049	170871049	+	Silent	SNP	G	G	A	rs10592951		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr6:170871049G>A	ENST00000392092.2	+	3	504	c.225G>A	c.(223-225)caG>caA	p.Q75Q	TBP_ENST00000230354.6_Silent_p.Q75Q|TBP_ENST00000540980.1_Silent_p.Q55Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	75	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q75Q(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcaacagcagcagcagc	0.567000													6	44					0	0	0.021553	0	0
BAGE2	85319	broad.mit.edu	37	21	11098827	11098827	+	RNA	SNP	C	C	T	rs79274499	by1000genomes	TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr21:11098827C>T	ENST00000470054.1	-	0	98									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccatccagagcgagacgagcc	0.637000													4	22					0	0	0.021553	0	0
UTP20	27340	broad.mit.edu	37	12	101685754	101685754	+	Missense_Mutation	SNP	T	T	A			TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr12:101685754T>A	ENST00000261637.4	+	10	1219	c.1045T>A	c.(1045-1047)Tct>Act	p.S349T		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	349					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCAGGTGTTATCTCAAACACT	0.423000													4	157					0	0	0.009096	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	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				20	47					0	0	0.055883	0	0
BAGE2	85319	broad.mit.edu	37	21	11085560	11085561	+	RNA	INS	-	-	AAA	rs147223908		TCGA-FE-A232-01A-11D-A14W-08	TCGA-FE-A232-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b839d2c7-770b-45be-b8b3-27fe9ea02205	207a7d21-80ce-467c-bceb-6e3d95df07ed	g.chr21:11085560_11085561insAAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccactaccaccaccac	0.594													2	4	---	---	---	---