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
HMGB4	127540	broad.mit.edu	37	1	34330273	34330273	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:34330273C>T	uc021oky.1	+	0	481	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.R161C|HMGB4_uc001bxq.3_Missense_Mutation_p.R87C	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	161						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAACTCTACCGTAAACAATG	0.478												
STK40	83931	broad.mit.edu	37	1	36820904	36820904	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:36820904T>C	uc001cak.1	-	5	880	c.473A>G	c.(472-474)aAc>aGc	p.N158S	STK40_uc001cal.1_Missense_Mutation_p.N163S|STK40_uc001cam.1_Missense_Mutation_p.N158S|STK40_uc001can.1_Missense_Mutation_p.N158S	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	158	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GTGCTGCAGGTTGATGAGGTC	0.562												
CTPS1	1503	broad.mit.edu	37	1	41461704	41461705	+	Frame_Shift_Ins	INS	-	-	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:41461704_41461705insA	uc001cgk.4	+	7	1344_1345	c.836_837insA	c.(835-837)agafs	p.R279fs	CTPS1_uc010ojo.2_Frame_Shift_Ins_p.R48fs|CTPS1_uc010ojp.1_Frame_Shift_Ins_p.R286fs|CTPS1_uc001cgl.4_Frame_Shift_Ins_p.R279fs|CTPS1_uc010ojq.2_Frame_Shift_Ins_p.R123fs	NM_001905	NP_001896	P17812	PYRG1_HUMAN	Homo sapiens CTP synthase (CTPS), mRNA.	279					CTP biosynthetic process|glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|response to drug	cytosol	ATP binding|CTP synthase activity|protein binding			endometrium(3)|lung(10)	13					L-Glutamine(DB00130)	AGGCAGCCAAGAAAAATGCTGA	0.475												
IFI44L	10964	broad.mit.edu	37	1	79094655	79094655	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:79094655C>T	uc010oro.2	+	2	677	c.498C>T	c.(496-498)gaC>gaT	p.D166D	IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	166						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATAACCTAGACGACATAAAGA	0.294												
OR6N1	128372	broad.mit.edu	37	1	158735944	158735944	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:158735944C>T	uc010piq.2	-	0	529	c.529G>A	c.(529-531)Gtc>Atc	p.V177I		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V177V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCACAAAAGACGTGCTGAATG	0.473												
USH2A	7399	broad.mit.edu	37	1	216419959	216419959	+	Missense_Mutation	SNP	C	C	T	rs146916397	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:216419959C>T	uc001hku.1	-	12	3164	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	USH2A_uc001hkv.3_Missense_Mutation_p.R926H	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	926	Laminin EGF-like 8.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTTCCTTGACGATTAGGCAC	0.423										HNSCC(13;0.011)		
OR2L2	26246	broad.mit.edu	37	1	248202093	248202094	+	Frame_Shift_Ins	INS	-	-	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:248202093_248202094insT	uc001idw.3	+	0	620_621	c.524_525insT	c.(523-525)catfs	p.H175fs	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H175Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCATCAATCATTTTTTCTGTG	0.431												
PTEN	5728	broad.mit.edu	37	10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr10:89711891G>A	uc001kfb.3	+	5	1541	c.509G>A	c.(508-510)aGt>aAt	p.S170N	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)		
CELF1	10658	broad.mit.edu	37	11	47496959	47496959	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:47496959G>A	uc001nfp.3	-	12	1604	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	CELF1_uc001nfl.3_Missense_Mutation_p.A373V|CELF1_uc010rhm.2_Missense_Mutation_p.A372V|CELF1_uc001nfm.3_Missense_Mutation_p.A370V|CELF1_uc001nfk.2_Missense_Mutation_p.A399V|CELF1_uc001nfn.3_Missense_Mutation_p.A369V|CELF1_uc001nfr.1_Missense_Mutation_p.A373V	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	373	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGTGGGGAGCGCAGCAGCAGC	0.577												
ANO1	55107	broad.mit.edu	37	11	70009414	70009414	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:70009414G>A	uc001opj.3	+	18	2223	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.V582M|ANO1_uc010rqk.2_Missense_Mutation_p.V349M	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	640					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GGGCGACTACGTGTACATTTT	0.527												
NFRKB	4798	broad.mit.edu	37	11	129762715	129762715	+	Missense_Mutation	SNP	A	A	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:129762715A>C	uc001qfg.3	-	0	190	c.69T>G	c.(67-69)gaT>gaG	p.D23E	NFRKB_uc001qfi.3_Missense_Mutation_p.D10E|NFRKB_uc001qfh.3_Missense_Mutation_p.D33E|NFRKB_uc010sbw.1_Missense_Mutation_p.D10E	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	10					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCCAGAGGATCTGTCAGCA	0.522												
CACNA1C	775	broad.mit.edu	37	12	2602399	2602399	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:2602399G>A	uc009zdu.1	+	6	1273	c.960G>A	c.(958-960)acG>acA	p.T320T	CACNA1C_uc001qkc.2_Silent_p.T320T|CACNA1C_uc001qjz.2_Silent_p.T320T|CACNA1C_uc001qkd.2_Silent_p.T320T|CACNA1C_uc001qke.2_Silent_p.T320T|CACNA1C_uc001qkf.2_Silent_p.T320T|CACNA1C_uc009zdw.1_Silent_p.T320T|CACNA1C_uc001qkg.2_Silent_p.T320T|CACNA1C_uc001qkh.2_Silent_p.T320T|CACNA1C_uc001qkl.2_Silent_p.T320T|CACNA1C_uc001qkj.2_Silent_p.T320T|CACNA1C_uc001qkk.2_Silent_p.T320T|CACNA1C_uc001qkn.2_Silent_p.T320T|CACNA1C_uc001qkm.2_Silent_p.T320T|CACNA1C_uc001qko.2_Silent_p.T320T|CACNA1C_uc001qkp.2_Silent_p.T320T|CACNA1C_uc001qkq.2_Silent_p.T320T|CACNA1C_uc001qku.2_Silent_p.T320T|CACNA1C_uc001qkr.2_Silent_p.T320T|CACNA1C_uc001qks.2_Silent_p.T320T|CACNA1C_uc001qkt.2_Silent_p.T320T|CACNA1C_uc009zdv.1_Silent_p.T317T|CACNA1C_uc001qkb.2_Silent_p.T320T|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.T56T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	320					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)	CGCTGGAAACGGGCCACGGGC	0.607												
CCDC41	51134	broad.mit.edu	37	12	94761893	94761893	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:94761893C>T	uc001tdd.3	-	9	1719	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	CCDC41_uc001tde.3_Missense_Mutation_p.R378H|CCDC41_uc009zsw.1_Non-coding_Transcript	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	370										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTGTACTTTACGTATTAATTC	0.333												
C12orf42	374470	broad.mit.edu	37	12	103695960	103695960	+	Frame_Shift_Del	DEL	G	G	-			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:103695960delG	uc001tjt.2	-	5	1097	c.1009delC	c.(1009-1011)cgcfs	p.R337fs	C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Frame_Shift_Del_p.R337fs|C12orf42_uc001tju.2_Frame_Shift_Del_p.R242fs	NM_198521	NP_940923	Q96LP6	CL042_HUMAN	Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA.	337										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						CGGGTTGGGCGGGGGGGTGCT	0.587												
STAB2	55576	broad.mit.edu	37	12	104102273	104102273	+	Missense_Mutation	SNP	G	G	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:104102273G>T	uc001tjw.3	+	38	4433	c.4247G>T	c.(4246-4248)tGt>tTt	p.C1416F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1416					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATGGCTCCTGTGACTGTGAT	0.478												
PCID2	55795	broad.mit.edu	37	13	113852564	113852564	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr13:113852564C>T	uc021rmt.1	-	2	222	c.141G>A	c.(139-141)gaG>gaA	p.E47E	PCID2_uc021rmq.1_Silent_p.E47E|PCID2_uc021rmr.1_Silent_p.E47E|PCID2_uc021rms.1_Silent_p.E47E|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	47					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GACACTTCTCCTCTGGAGAGG	0.358												
LRFN5	145581	broad.mit.edu	37	14	42356780	42356780	+	Missense_Mutation	SNP	A	A	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr14:42356780A>G	uc001wvm.3	+	2	2150	c.952A>G	c.(952-954)Att>Gtt	p.I318V	LRFN5_uc010ana.3_Missense_Mutation_p.I318V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	318	Ig-like.					integral to membrane		p.A317A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGCCTGCAATTCACTGGAT	0.463										HNSCC(30;0.082)		
NDN	4692	broad.mit.edu	37	15	23931738	23931738	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr15:23931738G>A	uc001ywk.3	-	0	713	c.627C>T	c.(625-627)gcC>gcT	p.A209A		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	209	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTTCCAGACGGCGCTCTCTC	0.632									Prader-Willi syndrome			
ACSM1	116285	broad.mit.edu	37	16	20651783	20651783	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:20651783C>T	uc002dhm.1	-	7	1184	c.1116_splice	c.e7+1	p.T372_splice	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Splice_Site_p.T372_splice	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	372					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						caCCACCTACCGTTTCCGACT	0.483												
SCNN1B	6338	broad.mit.edu	37	16	23387159	23387159	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:23387159G>A	uc002dln.3	+	7	1429	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	418					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGCAACAACCGGGACTTCCCA	0.612												
PKD1L2	114780	broad.mit.edu	37	16	81181775	81181775	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:81181775G>A	uc002fgh.1	-	28	4941	c.4941C>T	c.(4939-4941)gaC>gaT	p.D1647D	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1647					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAGAAGGCCGTCCTCCATGG	0.642												
MTHFSD	64779	broad.mit.edu	37	16	86585659	86585659	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:86585659C>T	uc002fjn.3	-	2	268	c.217G>A	c.(217-219)Gtt>Att	p.V73I	MTHFSD_uc002fjm.3_Missense_Mutation_p.V72I|MTHFSD_uc010voo.2_Missense_Mutation_p.V53I|MTHFSD_uc010vop.2_5'UTR|MTHFSD_uc010voq.2_Intron|MTHFSD_uc010vor.2_Intron|MTHFSD_uc002fjo.3_Intron|MTHFSD_uc002fjp.2_Missense_Mutation_p.V53I	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	73					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCAGCCGAACGCCTTCCAGT	0.537												
GLP2R	9340	broad.mit.edu	37	17	9783793	9783793	+	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:9783793T>G	uc002gmd.1	+	10	1244	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	415					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTGCAAAACTTATACGACTT	0.393												
KRTAP4-11	653240	broad.mit.edu	37	17	39274206	39274206	+	Missense_Mutation	SNP	C	C	T	rs79388709		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:39274206C>T	uc002hvz.3	-	0	401	c.362G>A	c.(361-363)aGa>aAa	p.R121K		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	121	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.R121K(10)|p.R121R(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gcactggggtctgcagcagct	0.652												
PRKCA	5578	broad.mit.edu	37	17	64299034	64299034	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:64299034G>A	uc002jfo.1	+	0					PRKCA_uc002jfp.1_Missense_Mutation_p.R22H			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.						activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGCTTCGCCCGCAAAGGGGCG	0.642												
LAMA1	284217	broad.mit.edu	37	18	6956725	6956725	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:6956725G>A	uc002knm.3	-	55	8098	c.8004C>T	c.(8002-8004)gtC>gtT	p.V2668V	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.V121V|LAMA1_uc010wzj.2_Silent_p.V2144V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2668	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCAGGTCGACTTGCTCAT	0.512												
SETBP1	26040	broad.mit.edu	37	18	42532158	42532158	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:42532158C>T	uc010dni.3	+	3	3149	c.2853C>T	c.(2851-2853)ctC>ctT	p.L951L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	951						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCGATGACCTCCAGTTTCTGG	0.502									Schinzel-Giedion syndrome			
FBN3	84467	broad.mit.edu	37	19	8130913	8130913	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:8130913G>A	uc002mjf.3	-	62	8337	c.8320C>T	c.(8320-8322)Cgg>Tgg	p.R2774W	FBN3_uc002mje.3_Missense_Mutation_p.R570W	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2774						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R2774L(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						ACCTCCAGCCGGTAGGTTCCA	0.677												
ZNF536	9745	broad.mit.edu	37	19	30934790	30934790	+	Silent	SNP	C	C	T	rs144245375		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:30934790C>T	uc002nsu.1	+	1	459	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ZNF536_uc010edd.1_Silent_p.N107N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTTCCTCAACGGGCAGAACC	0.652												
PDCD2L	84306	broad.mit.edu	37	19	34895691	34895691	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:34895691C>T	uc002nvj.3	+	1	279	c.246C>T	c.(244-246)tgC>tgT	p.C82C		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	82						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGCGCCTGCCCCGGCTGTA	0.721												
RYR1	6261	broad.mit.edu	37	19	38990276	38990276	+	Silent	SNP	C	C	T	rs138617219		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:38990276C>T	uc002oit.3	+	44	7158	c.7028_splice	c.e44-1	p.G2343_splice	RYR1_uc002oiu.3_Splice_Site_p.G2343_splice|RYR1_uc002oiv.1_Splice_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2343	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGGCCAGGCGAGAGCGTGG	0.667												
NLRP12	91662	broad.mit.edu	37	19	54312898	54312898	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:54312898G>A	uc002qcj.4	-	2	2235	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.A672V|NLRP12_uc002qci.4_Missense_Mutation_p.A672V|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.A672V	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	672					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCGTCCGCGCTGTAGGT	0.622												
AFF3	3899	broad.mit.edu	37	2	100209854	100209854	+	Missense_Mutation	SNP	G	G	C	rs56151323		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:100209854G>C	uc002taf.3	-	13	2488	c.2344C>G	c.(2344-2346)Cta>Gta	p.L782V	AFF3_uc002tag.3_Missense_Mutation_p.L757V|AFF3_uc010fiq.1_Missense_Mutation_p.L757V|AFF3_uc010yvr.1_Missense_Mutation_p.L910V|AFF3_uc002tah.1_Missense_Mutation_p.L782V	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	757					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGTCCTTTAGAGGGGAGAGA	0.572												
SCN9A	6335	broad.mit.edu	37	2	167162345	167162345	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:167162345G>A	uc010fpl.3	-	4	894	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SCN9A_uc002udr.1_Missense_Mutation_p.R56C|SCN9A_uc002uds.1_Missense_Mutation_p.R56C|SCN9A_uc002udt.1_Missense_Mutation_p.R56C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	185						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACGGGTCACGAAGAAAAGTG	0.378												
XIRP2	129446	broad.mit.edu	37	2	168100110	168100110	+	Silent	SNP	C	C	T	rs76149079	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:168100110C>T	uc002udx.3	+	8	2297	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F561F|XIRP2_uc010fpq.3_Silent_p.F514F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	561					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAATGTTTCGAAACTCAAC	0.368												
LRP2	4036	broad.mit.edu	37	2	170145548	170145548	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:170145548G>A	uc002ues.3	-	8	1243	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	LRP2_uc010zdf.1_Missense_Mutation_p.R344C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	344	EGF-like 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACAGGTACGGCTGTCATTG	0.522												
TTN	7273	broad.mit.edu	37	2	179498195	179498195	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:179498195G>A	uc021vsy.1	-	180	35412	c.35187C>T	c.(35185-35187)ggC>ggT	p.G11729G	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G5424G|TTN_uc021vta.1_Silent_p.G5357G|TTN_uc021vtb.1_Silent_p.G5232G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12656	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACATATTCGCCTTTATCTT	0.428												
MPP4	58538	broad.mit.edu	37	2	202545627	202545627	+	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:202545627T>G	uc002uyk.4	-	9	1071	c.863A>C	c.(862-864)cAg>cCg	p.Q288P	MPP4_uc010ftj.3_Missense_Mutation_p.Q288P|MPP4_uc010zhq.2_Missense_Mutation_p.Q288P|MPP4_uc010zht.2_Missense_Mutation_p.Q261P|MPP4_uc010zhr.2_Missense_Mutation_p.Q288P|MPP4_uc010zhs.2_Missense_Mutation_p.Q244P|MPP4_uc002uyj.4_Missense_Mutation_p.Q244P|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.Q275P|MPP4_uc002uym.1_Missense_Mutation_p.Q257P|MPP4_uc002uyn.3_Missense_Mutation_p.Q244P	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	288	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						TTTTCGGGCCTGCCACCAGAG	0.582											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
PAX3	5077	broad.mit.edu	37	2	223066892	223066892	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:223066892G>A	uc010fwo.3	-	7	1572	c.1191C>T	c.(1189-1191)acC>acT	p.T397T	PAX3_uc002vmt.2_Silent_p.T397T|PAX3_uc002vmy.2_Silent_p.T396T|PAX3_uc002vmv.2_Silent_p.T397T|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	397					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTGGTTGGTCAGGAGTC	0.537			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome					
MYH9	4627	broad.mit.edu	37	22	36714329	36714329	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:36714329C>T	uc003apg.3	-	10	1381	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	MYH9_uc003aph.1_Missense_Mutation_p.D248N	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	384	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGGTGAAATCGGTCACATTG	0.502			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated			
CELSR1	9620	broad.mit.edu	37	22	46829324	46829324	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:46829324C>T	uc003bhw.1	-	4	4577	c.4577G>A	c.(4576-4578)cGg>cAg	p.R1526Q		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1526	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGTGCCACCGCCCGTCACT	0.647												
CRELD1	78987	broad.mit.edu	37	3	9976243	9976243	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:9976243C>A	uc003buf.3	+	1	220	c.121C>A	c.(121-123)Cct>Act	p.P41T	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.P41T|CRELD1_uc003bug.3_Missense_Mutation_p.P41T	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	41	Pro-rich.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TTCTCCCCCGCCTCAGCCCCA	0.617												
STXBP5L	9515	broad.mit.edu	37	3	120976169	120976169	+	Missense_Mutation	SNP	T	T	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:120976169T>G	uc003eec.4	+	16	1961	c.1821T>G	c.(1819-1821)atT>atG	p.I607M	STXBP5L_uc011bji.2_Missense_Mutation_p.I607M	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	607					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGGACAGTATTCCATGCCTCA	0.368												
TP63	8626	broad.mit.edu	37	3	189456442	189456442	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:189456442C>T	uc003fry.2	+	2	292	c.203C>T	c.(202-204)tCa>tTa	p.S68L	TP63_uc003frx.2_Missense_Mutation_p.S68L|TP63_uc003frz.2_Missense_Mutation_p.S68L|TP63_uc010hzc.1_Missense_Mutation_p.S68L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	68	Transcription activation.				anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTATATGTTCAGTTCAGCCC	0.408										HNSCC(45;0.13)		
ANAPC4	29945	broad.mit.edu	37	4	25416009	25416009	+	Splice_Site	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:25416009T>C	uc003gro.3	+	23	1814	c.1685_splice	c.e23+2	p.S562_splice	ANAPC4_uc003grp.3_Splice_Site_p.S448_splice|ANAPC4_uc003grq.3_Splice_Site_p.S15_splice	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	562					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TACCAGAAGGTAATTCTGTTT	0.299												
NIPAL1	152519	broad.mit.edu	37	4	48027184	48027184	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:48027184T>C	uc003gxw.3	+	1	212	c.146T>C	c.(145-147)cTg>cCg	p.L49P		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	49						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TACACGGACCTGAATTACAGC	0.438												
KDR	3791	broad.mit.edu	37	4	55946311	55946311	+	Missense_Mutation	SNP	T	T	G	rs66480054		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:55946311T>G	uc003has.3	-	29	4170	c.3868A>C	c.(3868-3870)Agc>Cgc	p.S1290R	KDR_uc003hat.1_Missense_Mutation_p.S1290R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1290					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GACTCCCTGCTTTTGCTGGGC	0.507			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)		
FRG1	2483	broad.mit.edu	37	4	190878609	190878609	+	Silent	SNP	G	G	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:190878609G>C	uc003izs.3	+	5	680	c.489G>C	c.(487-489)ggG>ggC	p.G163G		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	163					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		ATGAAGCAGGGGACATAGAAG	0.378												
CARD6	84674	broad.mit.edu	37	5	40853460	40853460	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr5:40853460G>A	uc003jmg.3	+	2	2101	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	676					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAAAACATGGCTGGGACAGC	0.493												
TREM1	54210	broad.mit.edu	37	6	41254356	41254356	+	Missense_Mutation	SNP	A	A	G			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:41254356A>G	uc003oqf.2	-	0	102	c.38T>C	c.(37-39)cTc>cCc	p.L13P	TREM1_uc003oqg.2_Missense_Mutation_p.L13P|TREM1_uc021yzj.1_Missense_Mutation_p.L13P	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	13					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TGAGACAAAGAGCATCCACAG	0.587												
BVES	11149	broad.mit.edu	37	6	105577294	105577294	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:105577294T>C	uc003pqw.3	-	2	468	c.311A>G	c.(310-312)aAc>aGc	p.N104S	BVES_uc003pqx.3_Missense_Mutation_p.N104S|BVES_uc003pqy.3_Missense_Mutation_p.N104S	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	104					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATGCAAAATGTTGACACCCAA	0.363												
EGFR	1956	broad.mit.edu	37	7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:55221710C>T	uc003tqk.3	+	6	1000	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
MCM7	4176	broad.mit.edu	37	7	99691889	99691889	+	Silent	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:99691889G>A	uc003usw.1	-	12	2265	c.1755C>T	c.(1753-1755)taC>taT	p.Y585Y	MCM7_uc003usv.1_Silent_p.Y409Y|MCM7_uc003usx.1_Silent_p.Y409Y|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	585	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TCATCTCCACGTATGCTGCTG	0.577												
FBXL13	222235	broad.mit.edu	37	7	102669857	102669857	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:102669857C>T	uc003vaq.2	-	2	436	c.9G>A	c.(7-9)ccG>ccA	p.P3P	FBXL13_uc010lir.1_Silent_p.P3P|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.P3P|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	3										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATCAATTCCGGAGTCATCT	0.294												
RELN	5649	broad.mit.edu	37	7	103234169	103234169	+	Missense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:103234169C>T	uc022ajr.1	-	26	4032	c.3872G>A	c.(3871-3873)cGa>cAa	p.R1291Q	RELN_uc022ajq.1_Missense_Mutation_p.R1291Q|RELN_uc010liz.3_Missense_Mutation_p.R1291Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1291					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTCAAATCTCGAGTTACTGC	0.393												
NOBOX	135935	broad.mit.edu	37	7	144098554	144098554	+	Silent	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:144098554C>T	uc022aoj.1	-	3	429	c.429G>A	c.(427-429)ccG>ccA	p.P143P		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	143					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.P143P(3)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGACTGCTGGCGGCTTCTTCT	0.652												
C9orf66	157983	broad.mit.edu	37	9	215042	215042	+	Missense_Mutation	SNP	C	C	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:215042C>A	uc003zge.4	-	0	852	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	DOCK8_uc011lls.1_Intron|DOCK8_uc003zgf.2_Intron	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.	119										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AAGACGCCCCCCGCGGCGCGC	0.731												
FREM1	158326	broad.mit.edu	37	9	14848723	14848723	+	Missense_Mutation	SNP	T	T	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:14848723T>A	uc003zlm.3	-	7	2017	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	401					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.P400P(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTGGACTGTCATAGGTGCA	0.448												
OR13F1	138805	broad.mit.edu	37	9	107267210	107267210	+	Missense_Mutation	SNP	G	G	A			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:107267210G>A	uc011lvm.2	+	0	667	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTATCCTCGCCAGTATCCT	0.478												
ANGPTL2	23452	broad.mit.edu	37	9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:129854001C>T	uc004bqr.1	-	3	1730	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Nonsense_Mutation_p.W108*	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	410	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532												
SETX	23064	broad.mit.edu	37	9	135202099	135202099	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135202099T>C	uc004cbk.3	-	9	5069	c.4886A>G	c.(4885-4887)aAg>aGg	p.K1629R	SETX_uc004cbj.3_Missense_Mutation_p.K1248R|SETX_uc010mzt.3_Missense_Mutation_p.K1248R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1629					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTATCCCCTTTGACTTATT	0.398												
RALGDS	5900	broad.mit.edu	37	9	135975714	135975714	+	Missense_Mutation	SNP	T	T	C			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135975714T>C	uc004cco.3	-	16	2530	c.2510A>G	c.(2509-2511)aAc>aGc	p.N837S	RALGDS_uc004ccn.3_Missense_Mutation_p.N25S|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.N825S|RALGDS_uc004ccr.3_Missense_Mutation_p.N836S|RALGDS_uc011mcv.2_Missense_Mutation_p.N808S|RALGDS_uc004ccs.3_Missense_Mutation_p.N782S|RALGDS_uc011mcw.2_Missense_Mutation_p.N908S|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	837	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTCCTCCAGGTTGTGTTTGTC	0.592			T	CIITA	"""PMBL, Hodgkin Lymphona, """							
STAG2	10735	broad.mit.edu	37	X	123171416	123171416	+	Nonsense_Mutation	SNP	C	C	T			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chrX:123171416C>T	uc004eua.3	+	5	732	c.328C>T	c.(328-330)Cga>Tga	p.R110*	STAG2_uc004etz.4_Nonsense_Mutation_p.R110*|STAG2_uc004eub.3_Nonsense_Mutation_p.R110*|STAG2_uc004euc.3_Nonsense_Mutation_p.R110*|STAG2_uc004eud.3_Nonsense_Mutation_p.R110*|STAG2_uc004eue.3_Nonsense_Mutation_p.R110*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	110					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAAGCATGACCGAGATATAGC	0.323