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
NCOR1P1	149934	broad.mit.edu	37	20	26084111	26084111	+	Missense_Mutation	SNP	A	A	G	rs75722320	by1000genomes	TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr20:26084111A>G	uc002wvj.4	-	1	360	c.305T>C	c.(304-306)gTc>gCc	p.V102A						Homo sapiens nuclear receptor corepressor 1 pseudogene 1 (NCOR1P1), non-coding RNA.									p.V102A(1)									AATATATTAGACGAAGACTTT	0.294000													2	18					0	0	1	0	0
SRCRB4D	136853	broad.mit.edu	37	7	76029805	76029805	+	Silent	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:76029805G>A	uc003ufb.3	-	3	621	c.273C>T	c.(271-273)gaC>gaT	p.D91D	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	91	SRCR 1.					extracellular region|membrane	scavenger receptor activity	p.D91D(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						CTACGTTGGCGTCCACCACGT	0.701000													6	7					0	0	1	0	0
SLC27A4	10999	broad.mit.edu	37	9	131107632	131107632	+	Silent	SNP	C	C	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr9:131107632C>G	uc004but.3	+	2	645	c.360C>G	c.(358-360)gcC>gcG	p.A120A	SLC27A4_uc004buu.3_Intron	NM_005094	NP_005085	Q6P1M0	S27A4_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 4 (SLC27A4), mRNA.	120					long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding	p.A120A(2)		autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						TCCTGCAGGCCCGGGGCCTGG	0.622000													16	29					0	0	1	0	0
BAI1	575	broad.mit.edu	37	8	143603449	143603449	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr8:143603449C>T	uc003ywm.3	+	19	3331	c.3148C>T	c.(3148-3150)Cgc>Tgc	p.R1050C		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1050					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	p.R1050C(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGCCTCATCCGCAAGCGCTT	0.652000													10	30					0	0	1	0	0
TET1	80312	broad.mit.edu	37	10	70446226	70446226	+	Silent	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr10:70446226G>A	uc001jok.4	+	10	5671	c.5166G>A	c.(5164-5166)aaG>aaA	p.K1722K		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	1722					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	p.K1722K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTGGCTCCAAGGAAGGAATGG	0.498000													51	75					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	956320	956320	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr4:956320T>C	uc003gbw.3	-	17	2191	c.2117A>G	c.(2116-2118)gAg>gGg	p.E706G	DGKQ_uc010ibn.3_Missense_Mutation_p.E693G	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	706	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	ATP binding|activating transcription factor binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	p.E706G(2)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCGTCGGCCTCGTCCACAGA	0.657000													8	22					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117386131	117386131	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:117386131A>T	uc003vjf.3	-	12	3463	c.3371T>A	c.(3370-3372)aTt>aAt	p.I1124N		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1124								p.I1124N(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GCCGTGGAAAATGACATTATG	0.398000											OREG0003442	type=REGULATORY REGION|Gene=CTTNBP2|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	24	47					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126771182	126771182	+	Splice_Site	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr5:126771182G>C	uc003kuh.4	+	17	2466	c.2104_splice	c.e17+1	p.P702_splice	MEGF10_uc003kui.4_Splice_Site_p.P702_splice	NM_032446	NP_115822	Q96KG7	MEG10_HUMAN	Homo sapiens multiple EGF-like-domains 10 (MEGF10), mRNA.	702	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		p.?(1)		breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGCTCTCAACGTAAGTCTTGT	0.373000													15	17					0	0	1	0	0
HSPA6	3310	broad.mit.edu	37	1	161494903	161494903	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:161494903T>G	uc001gaq.3	+	0	868	c.455T>G	c.(454-456)tTc>tGc	p.F152C	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	152					response to unfolded protein		ATP binding	p.F152C(3)		endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCCGCCTATTTCAATGACTCG	0.632000													17	44					0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142222492	142222492	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr8:142222492C>T	uc003ywd.1	-	6	2260	c.1952G>A	c.(1951-1953)gGc>gAc	p.G651D	SLC45A4_uc003ywc.1_Missense_Mutation_p.G651D|SLC45A4_uc010meq.1_Missense_Mutation_p.G649D	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	702					transport	integral to membrane		p.G651D(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGAAAGAGCCCACAGAGGC	0.627000													18	37					0	0	1	0	0
PRSS58	136541	broad.mit.edu	37	7	141952406	141952406	+	Silent	SNP	A	A	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:141952406A>C	uc003vxb.3	-	3	782	c.462T>G	c.(460-462)acT>acG	p.T154T	PRSS58_uc003vxc.4_Silent_p.T154T	NM_001001317	NP_001001317	Q8IYP2	PRS58_HUMAN	Homo sapiens protease, serine, 58 (PRSS58), mRNA.	154	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.T154T(3)		kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						AGATGTTCACAGTTTGCAGTG	0.383000													9	229					0	0	1	0	0
LPPR5	163404	broad.mit.edu	37	1	99422183	99422183	+	Nonsense_Mutation	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:99422183G>A	uc001dsb.3	-	1	574	c.352C>T	c.(352-354)Cga>Tga	p.R118*	LPPR5_uc001dsc.3_Nonsense_Mutation_p.R118*	NM_001037317	NP_001032394	Q32ZL2	LPPR5_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 5 (LPPR5), transcript variant 1, mRNA.	118						integral to membrane	hydrolase activity	p.R118*(1)									CGGACAGTTCGGCGCACCAGC	0.358000													25	28					0	0	1	0	0
ABCB1	5243	broad.mit.edu	37	7	87138593	87138593	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:87138593T>C	uc003uiz.2	-	26	3980	c.3487A>G	c.(3487-3489)Aat>Gat	p.N1163D	ABCB1_uc011khc.2_Missense_Mutation_p.N1099D	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1163	ABC transporter 2.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	p.N1163D(2)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	AGACTTACATTAGGCAGTGAC	0.493000													23	178					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1600530	1600530	+	Silent	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr20:1600530G>A	uc010gai.3	-	0	160	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	SIRPB1_uc002wfk.4_Silent_p.L21L|SIRPB1_uc002wfl.4_Silent_p.L21L	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	21					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.L21L(2)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGTCTCCCCAGCAGTAGCGTC	0.562000													28	41					0	0	1	0	0
C1orf192	257177	broad.mit.edu	37	1	161334829	161334829	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:161334829A>G	uc001gal.3	-	4	466	c.460T>C	c.(460-462)Tcc>Ccc	p.S154P		NM_001013625	NP_001013647	Q5VTH2	CA192_HUMAN	Homo sapiens chromosome 1 open reading frame 192 (C1orf192), mRNA.	154								p.S154P(2)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10	all_cancers(52;4.64e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATCTGGGGAATTGAGGTTG	0.498000													35	70					0	0	1	0	0
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr12:13028751G>C	uc010sho.2	+	0	341	c.319G>C	c.(319-321)Ggc>Cgc	p.G107R						Homo sapiens ribosomal protein L13a pseudogene 20 (RPL13AP20), non-coding RNA.																		GGTGTTTGACGGCATCCCACC	0.612000													3	11					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85553644	85553644	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:85553644T>C	uc021vjw.1	-	1	1545	c.1211A>G	c.(1210-1212)cAc>cGc	p.H404R	TGOLN2_uc002spb.3_Missense_Mutation_p.H346R|TGOLN2_uc002soz.3_Missense_Mutation_p.H404R|TGOLN2_uc021vjx.1_Missense_Mutation_p.H404R|TGOLN2_uc002spa.3_Non-coding_Transcript|TGOLN2_uc002spc.2_Missense_Mutation_p.H404R	NM_001206840	NP_001193769	O43493	TGON2_HUMAN	Homo sapiens trans-golgi network protein 2 (TGOLN2), transcript variant 2, mRNA.	404						integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	p.H404R(1)									CCGCTTGTTGTGATGAGCGAT	0.562000													26	41					0	0	1	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19415742	19415742	+	RNA	SNP	T	T	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr13:19415742T>C	uc010tcj.1	-	0		c.30368A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GCTGTTTTCCTAATCTTTCTT	0.338000													4	60					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123451902	123451902	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:123451902G>C	uc003ego.3	-	10	1639	c.1357C>G	c.(1357-1359)Ccc>Gcc	p.P453A	MYLK_uc011bjw.2_Missense_Mutation_p.P453A|MYLK_uc003egp.3_Intron|MYLK_uc003egq.3_Missense_Mutation_p.P453A|MYLK_uc003egr.3_Intron|MYLK_uc003egs.3_Missense_Mutation_p.P277A	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	453	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.P453A(3)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CTCCTCACGGGGGTGCCTTCC	0.572000													6	26					0	0	1	0	0
ZZEF1	23140	broad.mit.edu	37	17	3980274	3980274	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr17:3980274T>G	uc002fxe.3	-	19	3063	c.2999A>C	c.(2998-3000)cAg>cCg	p.Q1000P	ZZEF1_uc002fxk.1_Missense_Mutation_p.Q1001P	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1000							calcium ion binding|zinc ion binding	p.Q1000P(2)		central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCAGAAACTGGCCCACATC	0.363000													18	40					0	0	1	0	0
B4GALT2	8704	broad.mit.edu	37	1	44450654	44450654	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:44450654G>T	uc010okl.2	+	3	830	c.754G>T	c.(754-756)Gat>Tat	p.D252Y	B4GALT2_uc001clg.3_Missense_Mutation_p.D223Y|B4GALT2_uc001clh.3_Missense_Mutation_p.D157Y|B4GALT2_uc001cli.3_Missense_Mutation_p.D223Y	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	223					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	N-acetyllactosamine synthase activity|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding	p.D223Y(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	GGTCCCCATGGATGACCGCAA	0.597000													15	30					0	0	1	0	0
TWF1	5756	broad.mit.edu	37	12	44189532	44189532	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr12:44189532C>A	uc001roa.3	-	8	1039	c.1011G>T	c.(1009-1011)ttG>ttT	p.L337F	TWF1_uc001rnz.3_Missense_Mutation_p.L205F|TWF1_uc001rob.3_Missense_Mutation_p.L310F|TWF1_uc001roc.3_Missense_Mutation_p.L205F	NM_002822	NP_002813	Q12792	TWF1_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.	303						actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	p.L303F(1)		endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		AGTCTGCAGTCAACTCATCCC	0.383000													38	59					0	0	1	0	0
MAP3K10	4294	broad.mit.edu	37	19	40698519	40698519	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:40698519A>G	uc002ona.3	+	0	869	c.581A>G	c.(580-582)cAc>cGc	p.H194R		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	194	Protein kinase.				activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|JUN kinase kinase kinase activity|bHLH transcription factor binding|protein homodimerization activity|transcription corepressor activity	p.H194R(3)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GTGCCACCTCACGTGCTGGTC	0.642000													10	17					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262807	45262807	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr5:45262807C>A	uc003jok.3	-	7	1914	c.1889G>T	c.(1888-1890)aGg>aTg	p.R630M		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	630						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R630M(4)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CACCATCTCCCTGTCATGTTT	0.448000													4	83					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13663379	13663379	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:13663379G>T	uc011avc.2	+	8	2642	c.2260G>T	c.(2260-2262)Gat>Tat	p.D754Y	FBLN2_uc011auz.2_Intron|FBLN2_uc011avb.2_Intron|FBLN2_uc011ava.2_Missense_Mutation_p.D754Y	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	753	EGF-like 3; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.D754Y(1)|p.D173Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCTCTGTGCCGATGGCTATAT	0.612000													11	27					0	0	1	0	0
LAMA4	3910	broad.mit.edu	37	6	112441551	112441551	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr6:112441551T>G	uc003pvu.2	-	32	4909	c.4600A>C	c.(4600-4602)Aat>Cat	p.N1534H	LAMA4_uc003pvv.2_Missense_Mutation_p.N1527H|LAMA4_uc003pvt.2_Missense_Mutation_p.N1527H	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	1534	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	p.N1527H(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TGACCAACATTAAACATGTAA	0.418000													20	16					0	0	1	0	0
LOC100233156	100233156	broad.mit.edu	37	GL000218.1	38873	38873	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chrGL000218.1:38873G>T	uc011mfn.2	-	4	679	c.590C>A	c.(589-591)cCc>cAc	p.P197H	LOC100233156_uc003jah.2_3'UTR					Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA.																		TGCAGGATGGGGGTGTAGCAA	0.562000													3	11					0	0	1	0	0
SNORD90	692206	broad.mit.edu	37	9	125642493	125642493	+	Splice_Site	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr9:125642493C>T	uc004bnf.1	-	1		c.107_splice	c.e1+1		RC3H2_uc010mwc.1_Intron|RC3H2_uc004bnc.2_Intron|RC3H2_uc004bnd.1_Intron|RC3H2_uc004bne.4_Intron|RC3H2_uc011lzf.2_Intron|RC3H2_uc011lzg.2_Intron					Homo sapiens small nucleolar RNA, C/D box 90 (SNORD90), small nucleolar RNA.																		ATATTTAATACGTTTTCAAGT	0.313000													34	40					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76891438	76891438	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chrX:76891438A>G	uc004ecp.4	-	15	4899	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T	ATRX_uc004ecq.4_Missense_Mutation_p.M1518T|ATRX_uc004eco.4_Missense_Mutation_p.M1341T	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1556					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.M1556T(3)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TTTGATAACCATATTTCTATG	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						18	5					0	0	1	0	0
IFT122	55764	broad.mit.edu	37	3	129188218	129188218	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:129188218C>G	uc003eml.3	+	9	1133	c.927C>G	c.(925-927)gaC>gaG	p.D309E	IFT122_uc003emm.3_Missense_Mutation_p.D258E|IFT122_uc003emn.3_Missense_Mutation_p.D199E|IFT122_uc003emo.3_Missense_Mutation_p.D147E|IFT122_uc003emp.3_Missense_Mutation_p.D108E|IFT122_uc010htc.3_Missense_Mutation_p.D250E|IFT122_uc011bky.2_Missense_Mutation_p.D49E|IFT122_uc011bla.2_Missense_Mutation_p.D49E|IFT122_uc003emr.3_Missense_Mutation_p.D49E|IFT122_uc011bkx.1_Missense_Mutation_p.D98E|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	258					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		p.D309E(2)		breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CTGTGGCTGACTGGGGACAGA	0.443000													63	79					0	0	1	0	0
MKI67	4288	broad.mit.edu	37	10	129901213	129901213	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr10:129901213C>G	uc001lke.3	-	12	9086	c.8891G>C	c.(8890-8892)cGg>cCg	p.R2964P	MKI67_uc001lkf.3_Missense_Mutation_p.R2604P|MKI67_uc009yav.1_Missense_Mutation_p.R2539P|MKI67_uc009yaw.1_Missense_Mutation_p.R2114P	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2964					cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R2964P(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTAGGGGCCCGAAGAACTCT	0.493000													58	133					0	0	1	0	0
SPAG16	79582	broad.mit.edu	37	2	214794778	214794778	+	Missense_Mutation	SNP	C	C	T	rs142357329	byFrequency	TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:214794778C>T	uc002veq.3	+	11	1401	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	SPAG16_uc010fuz.2_Missense_Mutation_p.R288C|SPAG16_uc002ver.3_Missense_Mutation_p.R383C|SPAG16_uc010zjk.2_Missense_Mutation_p.R343C	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	437					cilium assembly	cilium axoneme|flagellar axoneme		p.R437C(3)		endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AGGACACAGCCGCGCAGTGTG	0.438000													49	50					0	0	1	0	0
PTPN13	5783	broad.mit.edu	37	4	87691273	87691273	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr4:87691273G>T	uc003hpz.3	+	29	5204	c.4724G>T	c.(4723-4725)aGg>aTg	p.R1575M	PTPN13_uc003hpy.3_Missense_Mutation_p.R1580M|PTPN13_uc003hqa.3_Missense_Mutation_p.R1556M|PTPN13_uc003hqb.3_Missense_Mutation_p.R1384M|PTPN13_uc003hqc.1_5'UTR	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	1575	PDZ 3.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	p.R1580M(2)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		TCTGCTCTCAGGGGAACTGCT	0.443000													3	29					0	0	1	0	0
TPTE2	93492	broad.mit.edu	37	13	20049751	20049751	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr13:20049751C>A	uc001umd.3	-	5	403	c.192G>T	c.(190-192)aaG>aaT	p.K64N	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	64						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.K64N(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GCACAATTTTCTTAATCTTGC	0.299000													20	33					0	0	1	0	0
C19orf47	126526	broad.mit.edu	37	19	40832339	40832339	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:40832339C>T	uc002oni.4	-	6	606	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	C19orf47_uc002ong.3_Missense_Mutation_p.R61Q|C19orf47_uc002onh.3_Missense_Mutation_p.R135Q	NM_178830	NP_849152	Q8N9M1	CS047_HUMAN	Homo sapiens chromosome 19 open reading frame 47 (C19orf47), mRNA.	202								p.R135Q(1)		endometrium(5)|kidney(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20			Lung(22;0.000636)			AGCAGTGACCCGGCGCCGCTT	0.627000													11	26					0	0	1	0	0
PRSS50	29122	broad.mit.edu	37	3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr3:46759103G>A	uc003cqe.1	-	1	613	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_uc021wxe.1_Missense_Mutation_p.P44L|PRSS50_uc003cqf.2_Intron	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	44					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.P44L(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706000													12	17					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7250419	7250419	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr17:7250419C>T	uc002ggd.2	+	13	1407	c.1201C>T	c.(1201-1203)Cct>Tct	p.P401S		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	401					intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding	p.P401S(2)		NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						GGGAAGGGAGCCTGGGGGAGT	0.677000													7	40					0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73066388	73066388	+	RNA	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chrX:73066388G>T	uc004ebm.1	-	0		c.6201C>A								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		AATGAGCAGTGTGCGATTACG	0.463000													63	15					0	0	1	0	0
NID1	4811	broad.mit.edu	37	1	236156998	236156998	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:236156998C>T	uc001hxo.3	-	12	2804	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	NID1_uc009xgd.3_Missense_Mutation_p.R768H|NID1_uc009xgc.3_5'UTR	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	901	Thyroglobulin type-1.				cell-matrix adhesion	basement membrane	calcium ion binding	p.R901H(2)		breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCGGCCGTCGCGATCCACGCA	0.697000													5	12					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100237249	100237249	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr4:100237249G>T	uc003hus.4	-	4	457	c.373C>A	c.(373-375)Cag>Aag	p.Q125K	ADH1B_uc003hut.4_Missense_Mutation_p.Q85K|ADH1B_uc011ceh.2_Intron|ADH1B_uc011cei.1_Missense_Mutation_p.Q85K	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	125					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.Q125K(2)|p.L124P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTGCCATCCTGCAGGGTCCCC	0.547000													20	33					0	0	1	0	0
FLJ31813	326332	broad.mit.edu	37	10	51818992	51818992	+	RNA	SNP	G	G	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr10:51818992G>T	uc001jiz.1	-	2		c.1439C>A								Homo sapiens FAM21B pseudogene (FLJ31813), non-coding RNA.																		AGGCTTCTGTGGCTCCTTCAT	0.532000													3	31					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101845118	101845118	+	Silent	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:101845118C>T	uc003uys.4	+	17	2701	c.2574C>T	c.(2572-2574)ggC>ggT	p.G858G	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.G847G	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	847					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.G847G(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AAGAAACGGGCGGCGGGAAAG	0.687000													5	75					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061392	9061392	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr19:9061392G>C	uc002mkp.3	-	2	26258	c.26054C>G	c.(26053-26055)aCa>aGa	p.T8685R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8687	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T8685R(3)|p.T4318R(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGAAACACTTGTATTCCCCAG	0.458000													35	45					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211541794	211541794	+	Silent	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:211541794C>T	uc010fur.3	+	37	4438	c.4356C>T	c.(4354-4356)gtC>gtT	p.V1452V	CPS1_uc002vee.4_Silent_p.V1446V|CPS1_uc010fus.3_Silent_p.V995V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1446					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity	p.V1446V(1)		breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTAAATTTGTCCATGATAATT	0.378000													48	89					0	0	1	0	0
KIAA0494	9813	broad.mit.edu	37	1	47149017	47149017	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr1:47149017C>T	uc001cqk.4	-	9	2244	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	KIAA0494_uc010omh.1_Missense_Mutation_p.A359T|LOC100130197_uc021ond.1_Intron|LOC100130197_uc021one.1_Intron|KIAA0494_uc010omj.2_Missense_Mutation_p.A215T	NM_014774	NP_055589	O75071	K0494_HUMAN	Homo sapiens KIAA0494 (KIAA0494), mRNA.	423							calcium ion binding	p.A423T(2)		endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	7	Acute lymphoblastic leukemia(166;0.155)					CTTAGTTGGGCAGCTTTCTCA	0.388000													33	60					0	0	1	0	0
SULF2	55959	broad.mit.edu	37	20	46301111	46301111	+	Silent	SNP	C	C	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr20:46301111C>A	uc002xto.3	-	10	1737	c.1407G>T	c.(1405-1407)acG>acT	p.T469T	SULF2_uc002xtr.3_Silent_p.T469T|SULF2_uc002xtq.3_Silent_p.T469T	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	469					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.T469T(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCAGCTTCCCCGTGGCGTCCT	0.652000													3	29					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166020180	166020180	+	Silent	SNP	C	C	T			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr2:166020180C>T	uc002ucx.3	-	6	1134	c.642G>A	c.(640-642)gcG>gcA	p.A214A	SCN3A_uc002ucy.3_Silent_p.A214A|SCN3A_uc002ucz.3_Intron|SCN3A_uc002uda.1_Silent_p.A83A|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	214						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A214A(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGTTCTCAACGCTGAGACAT	0.408000													26	32					0	0	1	0	0
NOX3	50508	broad.mit.edu	37	6	155761273	155761274	+	Splice_Site	INS	-	A	A			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr6:155761273_155761274insA	uc003qqm.3	-	6	590	c.487_splice	c.e6-1	p.N163_splice		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	163	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GGTTGTGTTCTaaaaaaaacaa	0.356													28	33	---	---	---	---					
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	-	-			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr7:33312723delT	uc003tdn.1	+	7	1315	c.802delT	c.(802-804)tttfs	p.F268fs	BBS9_uc003tdo.1_Frame_Shift_Del_p.F268fs|BBS9_uc003tdp.1_Frame_Shift_Del_p.F268fs|BBS9_uc003tdq.1_Frame_Shift_Del_p.F268fs|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc011kan.1_Frame_Shift_Del_p.F268fs|BBS9_uc011kao.1_Frame_Shift_Del_p.F146fs	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	268					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome				7	512	---	---	---	---					
OR51D1	390038	broad.mit.edu	37	11	4661689	4661690	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr11:4661689_4661690delCT	uc010qyk.2	+	0	745_746	c.669_670delCT	c.(667-672)gactctfs	p.D223fs		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D223Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGGTGTGGACTCTCTCTTCAT	0.495													40	76	---	---	---	---					
PPP1R13B	23368	broad.mit.edu	37	14	104205266	104205268	+	In_Frame_Del	DEL	GAC	-	-			TCGA-G9-6496-01A-11D-1786-08	TCGA-G9-6496-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	259386a0-60a4-4990-a3c3-36b9bab40927	ecd9e666-76cf-4984-a6b7-01764f387579	g.chr14:104205266_104205268delGAC	uc001yof.1	-	12	2968_2970	c.2685_2687delGTC	c.(2683-2688)gcgtct>gct	p.S896del	PPP1R13B_uc010awv.1_Non-coding_Transcript	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13B (PPP1R13B), mRNA.	896					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCCTTCCAGAGACGCGTCTAGGA	0.626													40	88	---	---	---	---					
