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
ATP2C2	9914	broad.mit.edu	37	16	84456271	84456271	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr16:84456271G>A	ENST00000416219.2	+	9	900	c.811G>A	c.(811-813)Gga>Aga	p.G271R	ATP2C2_ENST00000262429.4_Missense_Mutation_p.G271R|ATP2C2_ENST00000420010.2_3'UTR			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	271					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTCTCAGTTCGGAGAAGTGTT	0.502000													31	259					0	0	0.054565	0	0
EIF2S2	8894	broad.mit.edu	37	20	32677564	32677564	+	Missense_Mutation	SNP	C	C	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:32677564C>G	ENST00000374980.2	-	9	1195	c.974G>C	c.(973-975)cGa>cCa	p.R325P		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	325						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						GAGCTGTGCTCGCTTGCCCGT	0.473000													25	42					0	0	0.091800	0	0
ABCG8	64241	broad.mit.edu	37	2	44104811	44104811	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr2:44104811C>A	ENST00000272286.2	+	12	1958	c.1868C>A	c.(1867-1869)gCg>gAg	p.A623E		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	623	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCACCATCGCGGTCTCAGGA	0.498000											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	40	71					1.47244e-24	1.88657e-24	0.086207	1	0
PRDX5	25824	broad.mit.edu	37	11	64085693	64085693	+	Silent	SNP	A	A	C			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:64085693A>C	ENST00000265462.4	+	1	134	c.6A>C	c.(4-6)ggA>ggC	p.G2G	PRDX5_ENST00000352435.4_Silent_p.G2G|PRDX5_ENST00000347941.4_Silent_p.G2G	NM_012094.4	NP_036226.1	P30044	PRDX5_HUMAN	peroxiredoxin 5	2					cell redox homeostasis|cellular response to reactive oxygen species|inflammatory response|negative regulation of apoptosis	cytosolic part|mitochondrion|peroxisome	caspase inhibitor activity|peroxidase activity|peroxiredoxin activity			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	CGGGTATGGGACTAGCTGGCG	0.697000													11	20					0	0	0.105934	0	0
NDUFS8	4728	broad.mit.edu	37	11	67800677	67800677	+	Missense_Mutation	SNP	C	C	T			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:67800677C>T	ENST00000313468.5	+	5	406	c.299C>T	c.(298-300)gCg>gTg	p.A100V	NDUFS8_ENST00000528492.1_Intron	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	100					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	GGGGAGCATGCGCTGCGCCGG	0.687000													3	24					0	0	0.004672	0	0
POM121C	100101267	broad.mit.edu	37	7	75066953	75066953	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr7:75066953A>G	ENST00000453279.2	-	7	1184	c.320T>C	c.(319-321)cTg>cCg	p.L107P	POM121C_ENST00000257665.5_Missense_Mutation_p.L349P	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	349	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCCTCTCTTCAGAGACCCAGG	0.433000													3	88					0	0	0.004672	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513887	143513887	+	Missense_Mutation	SNP	T	T	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr3:143513887T>G	ENST00000316549.6	-	4	697	c.489A>C	c.(487-489)ttA>ttC	p.L163F		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	163					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						AGGCATACGTTAAAATAGATC	0.388000													4	52					0	0	0.014758	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	rs141167641	by1000genomes	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:51870661G>A	ENST00000371497.5	+	2	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A219T|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A219T	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562000													10	29					0	0	0.058154	0	0
RP11-248G5.8	0	broad.mit.edu	37	13	52864028	52864028	+	RNA	SNP	C	C	T	rs138483057	by1000genomes	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr13:52864028C>T	ENST00000451298.1	-	0	141				RP11-64P12.8_ENST00000606031.1_RNA																							TAGAATGATACTCCAAAGGAA	0.313000													3	26					0	0	0.014758	0	0
QRICH2	84074	broad.mit.edu	37	17	74288474	74288474	+	Silent	SNP	C	C	T			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr17:74288474C>T	ENST00000262765.5	-	4	2015	c.1836G>A	c.(1834-1836)caG>caA	p.Q612Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	612	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAAACCATGCTGATCCACTC	0.537000													3	57					0	0	0.004672	0	0
ADAMTS2	9509	broad.mit.edu	37	5	178555009	178555009	+	Silent	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr5:178555009G>A	ENST00000251582.7	-	17	2669	c.2568C>T	c.(2566-2568)taC>taT	p.Y856Y		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	856	TSP type-1 2.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Y856Y(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGGCCCACTCGTAGACCACAG	0.582000													60	63					0	0	0.048971	0	0
IGHV3-16	0	broad.mit.edu	37	14	106622301	106622301	+	RNA	SNP	T	T	C			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr14:106622301T>C	ENST00000390604.2	-	0	118																											ATGAATCACCTTTTAAAATAC	0.438000													3	112					0	0	0.004672	0	0
SNRNP40	9410	broad.mit.edu	37	1	31742118	31742118	+	Missense_Mutation	SNP	C	C	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr1:31742118C>A	ENST00000373720.3	-	1	395	c.55G>T	c.(55-57)Gtt>Ttt	p.V19F	SNRNP40_ENST00000489853.1_Intron|SNRNP40_ENST00000446633.2_Intron|SNRNP40_ENST00000263694.4_Intron			Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	0						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AACAAACCAACCAAAACAACT	0.458000													28	22					2.4375e-19	3.02841e-19	0.034045	1	0
RRP8	23378	broad.mit.edu	37	11	6622217	6622217	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr11:6622217G>A	ENST00000254605.6	-	4	1103	c.986C>T	c.(985-987)cCt>cTt	p.P329L	RRP8_ENST00000534343.1_Intron	NM_015324.3	NP_056139.1	O43159	RRP8_HUMAN	ribosomal RNA processing 8, methyltransferase, homolog (yeast)	329			P -> S (in dbSNP:rs17834692).		chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GCAATGCACAGGGTTCCGGAT	0.547000													7	75					0	0	0.029380	0	0
TLN2	83660	broad.mit.edu	37	15	62995030	62995030	+	Missense_Mutation	SNP	G	G	C			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr15:62995030G>C	ENST00000561311.1	+	18	2201	c.1971G>C	c.(1969-1971)caG>caC	p.Q657H	TLN2_ENST00000306829.6_Missense_Mutation_p.Q657H			Q9Y4G6	TLN2_HUMAN	talin 2	657					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTCTGAGACAGATTGGAGAGA	0.468000													29	31					0	0	0.034045	0	0
ENKD1	84080	broad.mit.edu	37	16	67697198	67697198	+	Missense_Mutation	SNP	C	C	T	rs138813287	byFrequency	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr16:67697198C>T	ENST00000243878.4	-	7	1228	c.907G>A	c.(907-909)Gta>Ata	p.V303I	ENKD1_ENST00000602644.1_3'UTR	NM_032140.1	NP_115516.1			enkurin domain containing 1																		GGCAGCAGTACCAGCTCACGC	0.652000													28	92					0	0	0.045705	0	0
PLCB4	5332	broad.mit.edu	37	20	9388617	9388617	+	Silent	SNP	A	A	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr20:9388617A>G	ENST00000378501.2	+	18	1680	c.1665A>G	c.(1663-1665)gtA>gtG	p.V555V	PLCB4_ENST00000414679.2_Silent_p.V567V|PLCB4_ENST00000378493.1_Silent_p.V555V|PLCB4_ENST00000378473.3_Silent_p.V567V|PLCB4_ENST00000334005.3_Silent_p.V555V|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000278655.4_Silent_p.V555V	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	555					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						ATAAATATGTAGGTGCTACCA	0.428000													3	141					0	0	0.004672	0	0
CTBP1	1487	broad.mit.edu	37	4	1206720	1206720	+	Missense_Mutation	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr4:1206720G>A	ENST00000382952.3	-	9	1471	c.1087C>T	c.(1087-1089)Ctc>Ttc	p.L363F	CTBP1_ENST00000290921.6_Missense_Mutation_p.L374F	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	374					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GCCCCATTGAGCTCAGGGTGC	0.662000													3	63					0	0	0.004672	0	0
STAP2	55620	broad.mit.edu	37	19	4329963	4329963	+	Silent	SNP	T	T	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr19:4329963T>G	ENST00000600324.1	-	5	517	c.450A>C	c.(448-450)acA>acC	p.T150T	STAP2_ENST00000594605.1_Silent_p.T150T	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	150	SH2.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACGAGGGTGTCTCCAGTG	0.642000													7	17					0	0	0.080935	0	0
RASAL2	9462	broad.mit.edu	37	1	178269183	178269183	+	Silent	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr1:178269183G>A	ENST00000448150.3	+	3	1151	c.333G>A	c.(331-333)ctG>ctA	p.L111L	RASAL2_ENST00000367649.3_Silent_p.L129L|RASAL2_ENST00000465723.1_3'UTR	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	0	PH.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GGCGATGCCTGAGGAGAACTG	0.473000											OREG0014010	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	84					0	0	0.014758	0	0
MIPOL1	145282	broad.mit.edu	37	14	37838730	37838730	+	Silent	SNP	G	G	A			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr14:37838730G>A	ENST00000327441.7	+	11	1303	c.837G>A	c.(835-837)cgG>cgA	p.R279R	MIPOL1_ENST00000536774.1_Silent_p.R98R|MIPOL1_ENST00000539062.2_Silent_p.R248R|MIPOL1_ENST00000537471.1_Silent_p.R279R|MIPOL1_ENST00000396294.2_Silent_p.R279R|MIPOL1_ENST00000556451.1_Silent_p.R248R|MIPOL1_ENST00000545536.1_Silent_p.R248R	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	279										breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		AGTGCAAACGGTTAGAGCAGG	0.393000													3	42					0	0	0.009096	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	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				27	35					0	0	0.030593	0	0
TRPA1	8989	broad.mit.edu	37	8	72946042	72946042	+	Missense_Mutation	SNP	A	A	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr8:72946042A>G	ENST00000262209.4	-	23	2912	c.2705T>C	c.(2704-2706)tTg>tCg	p.L902S	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	902						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TATAGAAAGCAATGGAGAGCT	0.393000													14	26					0	0	0.024245	0	0
PCDH11X	27328	broad.mit.edu	37	X	91133972	91133972	+	Silent	SNP	A	A	G			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chrX:91133972A>G	ENST00000373094.1	+	2	3578	c.2733A>G	c.(2731-2733)ctA>ctG	p.L911L	PCDH11X_ENST00000361655.2_Silent_p.L911L|PCDH11X_ENST00000361724.1_Silent_p.L911L|PCDH11X_ENST00000406881.1_Silent_p.L911L|PCDH11X_ENST00000504220.1_Silent_p.L911L|PCDH11X_ENST00000298274.8_Silent_p.L911L|PCDH11X_ENST00000373088.1_Silent_p.L911L|PCDH11X_ENST00000373097.1_Silent_p.L911L|PCDH11X_ENST00000395337.2_Silent_p.L911L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	911					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTATTGATCTAGAAGAGCAAA	0.428000													4	57					0	0	0.009096	0	0
PANX2	56666	broad.mit.edu	37	22	50615510	50615510	+	Silent	SNP	C	C	T			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr22:50615510C>T	ENST00000395842.2	+	2	369	c.369C>T	c.(367-369)ttC>ttT	p.F123F	PANX2_ENST00000159647.5_Silent_p.F123F	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	123					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		AGCACAAGTTCCTGCCCTACG	0.697000													8	14					0	0	0.058154	0	0
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				6	11	---	---	---	---					
RP11-343N15.1	0	broad.mit.edu	37	1	121137803	121137805	+	RNA	DEL	CCA	CCA	-	rs60375635	by1000genomes	TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr1:121137803_121137805delCCA	ENST00000437515.1	-	0	329																											ACCGCCGCCGCCACGGCTTTTTG	0.645													3	6	---	---	---	---					
KCNN3	3782	broad.mit.edu	37	1	154842199	154842200	+	In_Frame_Ins	INS	-	-	GCTGCT	rs58327065		TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr1:154842199_154842200insGCTGCT	ENST00000271915.3	-	1	556_557	c.241_242insAGCAGC	c.(241-243)acc>AGCAGCacc	p.80_81insSS		NM_002249.5	NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	80	Poly-Gln.					integral to membrane	calmodulin binding	p.Q80_P81insQQ(2)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GGGATGCGGTGgctgctgctgc	0.698													4	7	---	---	---	---					
ING5	84289	broad.mit.edu	37	2	242662663	242662664	+	Frame_Shift_Ins	INS	-	-	AG			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr2:242662663_242662664insAG	ENST00000313552.6	+	7	683_684	c.657_658insAG	c.(655-660)ctccacfs	p.H220fs	ING5_ENST00000406941.1_Frame_Shift_Ins_p.H220fs	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	220					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCGTGGACCTTACCACGAAACC	0.525													25	314	---	---	---	---					
CTC-559E9.6	0	broad.mit.edu	37	19	19944259	19944260	+	RNA	DEL	GT	GT	-			TCGA-FE-A231-01A-11D-A14W-08	TCGA-FE-A231-10A-01D-A14W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4d3229-23af-4a01-a8b3-264c22703ea4	f97453ea-688f-4bb3-959d-cc42cf32e2b7	g.chr19:19944259_19944260delGT	ENST00000591884.1	+	0	393																											TGGTAAAAACGTGTGTGTGTGT	0.426													7	136	---	---	---	---