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
CEP104	9731	broad.mit.edu	37	1	3756341	3756341	+	Splice_Site	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:3756341C>T	uc001aky.2	-	7	926	c.567_splice	c.e7-1	p.R189_splice	CEP104_uc010nzm.1_Splice_Site|CEP104_uc001akz.3_Splice_Site_p.R189_splice	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	189						centriole	binding			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GTCAGATTTCCTAAAGGGAAG	0.423												
MST1P9	11223	broad.mit.edu	37	1	17085791	17085791	+	Missense_Mutation	SNP	G	G	A	rs2297532	by1000genomes	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:17085791G>A	uc010ock.2	-	7	1030	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TCTGTACAACGCCGGATCTGG	0.692												
LRRC40	55631	broad.mit.edu	37	1	70611582	70611582	+	Silent	SNP	T	T	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:70611582T>C	uc001der.2	-	14	1848	c.1710A>G	c.(1708-1710)ttA>ttG	p.L570L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	570										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CATCCAGTAGTAATGTTCTAA	0.313												
IQGAP3	128239	broad.mit.edu	37	1	156497822	156497822	+	Silent	SNP	C	C	T	rs144640189	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:156497822C>T	uc001fpf.3	-	36	4779	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1568					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.T1567T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTCATCTCCCGGCGTGATGT	0.512												
SELP	6403	broad.mit.edu	37	1	169562878	169562878	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:169562878A>G	uc001ggi.4	-	13	2437	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Missense_Mutation_p.L790P	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	791					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.T790M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAAGCCAGGAGCGTCCCACC	0.413												
CRB1	23418	broad.mit.edu	37	1	197407699	197407699	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:197407699G>A	uc001gtz.3	+	9	3981	c.3772G>A	c.(3772-3774)Gtc>Atc	p.V1258I	CRB1_uc010poz.2_Missense_Mutation_p.V1234I|CRB1_uc009wza.3_Missense_Mutation_p.V1146I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.V722I|CRB1_uc010ppd.2_Missense_Mutation_p.V739I|CRB1_uc001gub.1_Missense_Mutation_p.V907I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1258	EGF-like 18.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACCCTCAACAGTCTGTGGGAA	0.413												
CACNA1S	779	broad.mit.edu	37	1	201028369	201028369	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:201028369G>A	uc001gvv.3	-	26	3700	c.3473C>T	c.(3472-3474)aCt>aTt	p.T1158I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1158					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAAGATGATAGTGAAGGCCAC	0.597												
OBSCN	84033	broad.mit.edu	37	1	228473808	228473808	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:228473808G>A	uc009xez.1	+	33	9078	c.9034G>A	c.(9034-9036)Gag>Aag	p.E3012K	OBSCN_uc001hsn.3_Missense_Mutation_p.E3012K|OBSCN_uc001hsq.1_Missense_Mutation_p.E268K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3012	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAGGACCTGGAGGATGTGGA	0.647												
TRIM58	25893	broad.mit.edu	37	1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:248028031C>T	uc001ido.3	+	2	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592												
COMMD3-BMI1	648	broad.mit.edu	37	10	22617609	22617609	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:22617609C>T	uc009xkg.3	+	11	1016	c.981C>T	c.(979-981)gaC>gaT	p.D327D	COMMD3-BMI1_uc001irh.3_Silent_p.D184D	NM_001204062	NP_001190991	P35226	BMI1_HUMAN	Homo sapiens COMMD3-BMI1 readthrough (COMMD3-BMI1), mRNA.	184					hemopoiesis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fibroblast proliferation|positive regulation of ubiquitin-protein ligase activity|segment specification|transcription, DNA-dependent	cytoplasm|nucleolus|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding										GTAAAATGGACATACCTAATA	0.299												
PTCHD3	374308	broad.mit.edu	37	10	27702648	27702648	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:27702648C>T	uc001itu.2	-	0	650	c.532G>A	c.(532-534)Gcc>Acc	p.A178T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	178					spermatid development	integral to membrane	hedgehog receptor activity	p.P177L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCGCCTTGGCCGGGCTCCCC	0.632												
DNA2	1763	broad.mit.edu	37	10	70196997	70196997	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:70196997C>T	uc021pru.1	-	10	1674	c.1674_splice	c.e10-1	p.M558_splice	DNA2_uc021prt.1_Splice_Site_p.M558_splice|DNA2_uc001jog.2_Splice_Site_p.M472_splice|DNA2_uc001joh.2_Splice_Site	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	472					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CCACTCTTCTCCCTATGAAAA	0.343												
PTEN	5728	broad.mit.edu	37	10	89692818	89692818	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:89692818T>C	uc001kfb.3	+	4	1334	c.302T>C	c.(301-303)aTc>aCc	p.I101T	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	101	Phosphatase tensin-type.				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.I101T(14)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.I101del(2)|p.I101N(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.I101M(1)|p.I101I(1)|p.I101fs*10(1)|p.F56fs*2(1)|p.(L100)fs(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)		CTAGAACTTATCAAACCCTTT	0.368		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)		
FAM178A	55719	broad.mit.edu	37	10	102697209	102697209	+	Silent	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:102697209A>G	uc001krs.3	+	9	3029	c.2487A>G	c.(2485-2487)acA>acG	p.T829T	FAM178A_uc001krt.4_Silent_p.T829T	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	829																	TTTTAAGTACATTGATGGAAA	0.308												
OR56A3	390083	broad.mit.edu	37	11	5969282	5969282	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:5969282G>A	uc010qzt.2	+	0	706	c.706G>A	c.(706-708)Ggt>Agt	p.G236S		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGGCAGAGGGTGCCGTGGC	0.522												
NUMA1	4926	broad.mit.edu	37	11	71729889	71729889	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:71729889C>T	uc001orl.1	-	9	894	c.722G>A	c.(721-723)cGc>cAc	p.R241H	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R241H|NUMA1_uc001orm.1_Missense_Mutation_p.R241H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R241H|NUMA1_uc001oro.1_Missense_Mutation_p.R241H|NUMA1_uc009ysy.2_Missense_Mutation_p.R241H|NUMA1_uc001orp.3_Missense_Mutation_p.R241H|NUMA1_uc001orq.3_Missense_Mutation_p.R241H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	241					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GAGGAGCTTGCGGTTCTCAGC	0.562			T	RARA	APL							
MLL	4297	broad.mit.edu	37	11	118376191	118376191	+	Missense_Mutation	SNP	C	C	T	rs147412214		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:118376191C>T	uc001pta.3	+	26	9598	c.9575C>T	c.(9574-9576)cCg>cTg	p.P3192L	MLL_uc001ptb.3_Missense_Mutation_p.P3195L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3192					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGCCTCCTCCGGATCCCCAA	0.507			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""							
CD163L1	283316	broad.mit.edu	37	12	7531814	7531814	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:7531814C>T	uc010sge.2	-	8	2187	c.2161G>A	c.(2161-2163)Gtg>Atg	p.V721M	CD163L1_uc001qsy.3_Missense_Mutation_p.V711M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	711	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAATTCCCACGGCACCCTGG	0.502												
NCKAP1L	3071	broad.mit.edu	37	12	54914540	54914540	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:54914540G>A	uc001sgc.4	+	16	1767	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	NCKAP1L_uc010sox.2_Missense_Mutation_p.R105H|NCKAP1L_uc010soy.2_Missense_Mutation_p.R513H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	563					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCATGTTGCGTTATGCCATT	0.458												
CCT2	10576	broad.mit.edu	37	12	69987309	69987309	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:69987309C>T	uc001svb.1	+	9	992	c.898C>T	c.(898-900)Cct>Tct	p.P300S	CCT2_uc010stl.1_Missense_Mutation_p.P253S	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	300					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	p.P300S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATAATTATCCTGAACAGCT	0.353												
UHRF1BP1L	23074	broad.mit.edu	37	12	100478382	100478382	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:100478382C>G	uc001tgq.3	-	9	1389	c.1160G>C	c.(1159-1161)gGa>gCa	p.G387A	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.G387A|UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.G37A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	387										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTGGCCCATCCATTTTTTGT	0.353												
NOS1	4842	broad.mit.edu	37	12	117655934	117655934	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:117655934G>A	uc001twn.2	-	28	5019	c.4308C>T	c.(4306-4308)gtC>gtT	p.V1436V	NOS1_uc021ren.1_Silent_p.V1066V|NOS1_uc021reo.1_Silent_p.V1066V|NOS1_uc001twm.2_Silent_p.V1402V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1402					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCGCAGGGTGACTCCAAAAA	0.483												
SOCS4	122809	broad.mit.edu	37	14	55510054	55510054	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:55510054G>A	uc021rti.1	+	0	295	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	SOCS4_uc001xbo.3_Missense_Mutation_p.V99M|SOCS4_uc001xbp.3_Missense_Mutation_p.V99M	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	99					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GCAAGATGCCGTGGGGCAGTG	0.423												
DACT1	51339	broad.mit.edu	37	14	59113060	59113060	+	Missense_Mutation	SNP	C	C	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:59113060C>A	uc001xdw.3	+	3	1883	c.1719C>A	c.(1717-1719)caC>caA	p.H573Q	DACT1_uc010trv.2_Missense_Mutation_p.H292Q|DACT1_uc001xdx.3_Missense_Mutation_p.H536Q|DACT1_uc010trw.2_Missense_Mutation_p.H292Q	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	573					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACCGGGGCCACAGGAACATGG	0.657												
ZFYVE26	23503	broad.mit.edu	37	14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:68274397G>A	uc001xka.2	-	4	743	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.R202W|ZFYVE26_uc010tta.2_Missense_Mutation_p.R202W	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	202					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.R202L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612												
CKB	1152	broad.mit.edu	37	14	103986328	103986328	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:103986328T>G	uc001ynf.2	-	7	1125	c.1019A>C	c.(1018-1020)gAc>gCc	p.D340A		NM_001823	NP_001814	P12277	KCRB_HUMAN	Homo sapiens creatine kinase, brain (CKB), mRNA.	340	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GCCCAGGCGGTCAGCGTTGGA	0.662												
CXADRP2	646243	broad.mit.edu	37	15	22016463	22016463	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:22016463A>G	uc010tzk.1	-	0	416	c.254T>C	c.(253-255)cTg>cCg	p.L85P						Homo sapiens coxsackie virus and adenovirus receptor pseudogene 2 (CXADRP2), non-coding RNA.																		AATATCTGACAGCTGAAAATT	0.388												
GJD2	57369	broad.mit.edu	37	15	35044812	35044812	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:35044812C>T	uc001zis.1	-	1	833	c.833G>A	c.(832-834)cGc>cAc	p.R278H	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	278					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTGATCTTGCGCCATCCCAG	0.512												
THSD4	79875	broad.mit.edu	37	15	71535188	71535188	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:71535188G>A	uc002atb.1	+	3	744	c.665G>A	c.(664-666)gGg>gAg	p.G222E	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	222	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCAACATGGGCCTTTGTAC	0.597												
KRT27	342574	broad.mit.edu	37	17	38938701	38938701	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr17:38938701G>A	uc002hvg.3	-	0	86	c.45C>T	c.(43-45)tgC>tgT	p.C15C		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	15	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGTGCCCCCGCAAGAGCCAA	0.582												
MYO5B	4645	broad.mit.edu	37	18	47352977	47352977	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:47352977C>T	uc002leb.2	-	39	5699	c.5411G>A	c.(5410-5412)cGg>cAg	p.R1804Q	MYO5B_uc002ldz.3_Missense_Mutation_p.R374Q|MYO5B_uc002lea.2_Missense_Mutation_p.R919Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1804					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGGTCATTCCGCTCTTGTAG	0.408												
RNF152	220441	broad.mit.edu	37	18	59483671	59483672	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:59483671_59483672delAG	uc002lih.1	-	1	437_438	c.25_26delCT	c.(25-27)ctgfs	p.L9fs	RNF152_uc021ula.1_Frame_Shift_Del_p.L9fs	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	9					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				ACATTCCAGCAGAGAGTCCTGG	0.594												
ZNF407	55628	broad.mit.edu	37	18	72345779	72345779	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:72345779C>T	uc002llw.2	+	0	2857	c.2804C>T	c.(2803-2805)gCt>gTt	p.A935V	ZNF407_uc010xfc.2_Missense_Mutation_p.A935V|ZNF407_uc010dqu.2_Missense_Mutation_p.A935V|ZNF407_uc002llu.2_Missense_Mutation_p.A934V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAAGAATGCTGGCTCAGCA	0.453												
TCF3	6929	broad.mit.edu	37	19	1623996	1623996	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:1623996G>A	uc002ltr.3	-	7	572	c.503C>T	c.(502-504)aCg>aTg	p.T168M	TCF3_uc002lto.3_5'Flank|TCF3_uc002ltt.4_Missense_Mutation_p.T168M|TCF3_uc002ltq.3_Missense_Mutation_p.T117M|TCF3_uc002lts.1_Missense_Mutation_p.T84M	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	168					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	p.T168M(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGGGCTGCGTGTCTGTTAG	0.612			T	"""PBX1, HLF, TFPT"""	pre B-ALL							
ZNF506	440515	broad.mit.edu	37	19	19905675	19905675	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:19905675A>G	uc010eci.2	-	3	1169	c.1021T>C	c.(1021-1023)Tac>Cac	p.Y341H	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.Y309H	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TCACATTTGTAGGGTACATCT	0.408												
CEACAM20	125931	broad.mit.edu	37	19	45015149	45015149	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:45015149G>T	uc010ejn.1	-	11	1692	c.1676C>A	c.(1675-1677)cCt>cAt	p.P559H	CEACAM20_uc010ejo.1_Missense_Mutation_p.P547H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P466H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P454H	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	559						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGGCATCAGAGGTTTGGGTGG	0.507												
TFPT	29844	broad.mit.edu	37	19	54617886	54617886	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:54617886C>T	uc010yej.1	-	1	624	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TFPT_uc010erd.2_Missense_Mutation_p.R73H|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank|PRPF31_uc021vbi.1_5'Flank	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	73					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TTCCCGCTGGCGCCGCCGCCG	0.652			T	TCF3	pre-B ALL							
GALNT14	79623	broad.mit.edu	37	2	31178570	31178570	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:31178570C>T	uc002rns.3	-	6	1223	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	GALNT14_uc002rnq.3_Missense_Mutation_p.A170T|GALNT14_uc010ymr.2_Missense_Mutation_p.A155T|GALNT14_uc002rnr.3_Missense_Mutation_p.A190T|GALNT14_uc010ezo.2_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	190	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTGCCCTGGGCGATGTCAGCG	0.597												
LTBP1	4052	broad.mit.edu	37	2	33482448	33482448	+	Silent	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:33482448A>G	uc021vft.1	+	11	2288	c.2265A>G	c.(2263-2265)gtA>gtG	p.V755V	LTBP1_uc002rou.3_Silent_p.V429V|LTBP1_uc002rov.3_Intron|LTBP1_uc010ymz.2_Silent_p.V429V|LTBP1_uc010yna.2_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	755					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGACCTGTATTTGTCAAGC	0.502												
ZAP70	7535	broad.mit.edu	37	2	98351132	98351132	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:98351132G>A	uc002syd.1	+	8	1246	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.G237S|ZAP70_uc002syf.1_Missense_Mutation_p.G40S	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	347	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACTTGGCTGCGGCAACTTTGG	0.622												
GCC2	9648	broad.mit.edu	37	2	109092033	109092033	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:109092033A>G	uc002tec.3	+	7	3057	c.2903A>G	c.(2902-2904)aAt>aGt	p.N968S	GCC2_uc002ted.3_Missense_Mutation_p.N867S	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	968					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAAAATAAATAAGATAAAA	0.299												
KIF5C	3800	broad.mit.edu	37	2	149866823	149866823	+	Silent	SNP	C	C	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:149866823C>A	uc010zbu.2	+	23	3120	c.2725C>A	c.(2725-2727)Cgg>Agg	p.R909R	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Silent_p.R191R	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	909	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGCCGTGCGGGCCAAGAA	0.632												
DNTTIP1	116092	broad.mit.edu	37	20	44431987	44431987	+	Silent	SNP	C	C	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr20:44431987C>A	uc002xpk.3	+	7	641	c.573C>A	c.(571-573)tcC>tcA	p.S191S		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	191						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AACCAAAATCCTGTGAACCAA	0.493												
UMODL1	89766	broad.mit.edu	37	21	43539379	43539379	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:43539379C>T	uc002zag.1	+	13	3018	c.3018C>T	c.(3016-3018)acC>acT	p.T1006T	UMODL1_uc002zad.1_Silent_p.T806T|UMODL1_uc002zae.1_Silent_p.T934T|UMODL1_uc002zaf.1_Silent_p.T878T|UMODL1_uc002zal.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	878	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CATTTCTCACCGCCTTCCAGA	0.567												
DNMT3L	29947	broad.mit.edu	37	21	45679526	45679526	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:45679526C>T	uc002zeg.1	-	3	704	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	DNMT3L_uc002zeh.1_Missense_Mutation_p.A74T	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	74	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTACATGGGGCGCAGATCCCT	0.542												
INPP5J	27124	broad.mit.edu	37	22	31523358	31523358	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31523358G>A	uc003aju.4	+	5	1719	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Missense_Mutation_p.V175M|INPP5J_uc003ajv.4_Missense_Mutation_p.V176M|INPP5J_uc003ajs.4_Missense_Mutation_p.V176M|INPP5J_uc011alk.2_Missense_Mutation_p.V476M|INPP5J_uc010gwg.3_Missense_Mutation_p.V108M	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	543	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGGTGGCGTGAGCGTGCG	0.632												
SFI1	9814	broad.mit.edu	37	22	31957290	31957290	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31957290C>T	uc003ale.3	+	7	1070	c.677C>T	c.(676-678)aCg>aTg	p.T226M	SFI1_uc003ald.1_Missense_Mutation_p.T202M|SFI1_uc003alf.3_Missense_Mutation_p.T226M|SFI1_uc003alg.3_Missense_Mutation_p.T144M|SFI1_uc011alp.2_Missense_Mutation_p.T144M|SFI1_uc011alq.2_Missense_Mutation_p.T202M|SFI1_uc003alh.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	226					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGTGGAGCACGTGGAGGCAG	0.572											OREG0026480	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)
GTSE1	51512	broad.mit.edu	37	22	46725343	46725343	+	Missense_Mutation	SNP	T	T	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:46725343T>C	uc011aqy.2	+	10	2227	c.2015T>C	c.(2014-2016)tTc>tCc	p.F672S	GTSE1_uc011aqz.2_Missense_Mutation_p.F519S|GTSE1_uc003bhn.3_Non-coding_Transcript|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	653					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCATCGACTTCTGCGATACC	0.498												
ZNF860	344787	broad.mit.edu	37	3	32030908	32030908	+	Missense_Mutation	SNP	G	G	C			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:32030908G>C	uc011axg.2	+	1	886	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	ZNF860_uc021wuv.1_Missense_Mutation_p.E113Q	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TCATGACTTTGAGTTTCAATG	0.388												
SCN5A	6331	broad.mit.edu	37	3	38639416	38639416	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:38639416C>T	uc021wvo.1	-	12	2118	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	SCN5A_uc021wvk.1_Missense_Mutation_p.R689H|SCN5A_uc021wvl.1_Missense_Mutation_p.R689H|SCN5A_uc021wvm.1_Missense_Mutation_p.R689H|SCN5A_uc021wvn.1_Missense_Mutation_p.R689H|SCN5A_uc021wvp.1_Missense_Mutation_p.R689H|SCN5A_uc021wvq.1_Missense_Mutation_p.R689H|SCN5A_uc021wvr.1_Missense_Mutation_p.R689H|SCN5A_uc021wvs.1_Missense_Mutation_p.R689H|SCN5A_uc021wvt.1_Missense_Mutation_p.R689H|SCN5A_uc021wvu.1_Missense_Mutation_p.R689H|SCN5A_uc021wvv.1_Missense_Mutation_p.R689H|SCN5A_uc021wvj.1_Missense_Mutation_p.R555H|SCN5A_uc021wvi.1_Missense_Mutation_p.R555H|SCN5A_uc021wvw.1_Missense_Mutation_p.R300H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	689					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGGCGAGACGGTTCCAGCA	0.537												
GPR27	2850	broad.mit.edu	37	3	71804047	71804047	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:71804047T>G	uc011bge.2	+	0	847	c.847T>G	c.(847-849)Tgc>Ggc	p.C283G	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	283						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C283G(2)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GAAGAGGCTGTGCAAGATGTT	0.721												
CD96	10225	broad.mit.edu	37	3	111356989	111356989	+	Missense_Mutation	SNP	C	C	T	rs140955483		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:111356989C>T	uc003dxw.3	+	12	1669	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	CD96_uc003dxx.3_Missense_Mutation_p.T484M|CD96_uc010hpy.1_Missense_Mutation_p.T483M	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	500	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.T500A(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AATGGATCTACGAAAACTAAT	0.388									Opitz Trigonocephaly syndrome			
TNK2	10188	broad.mit.edu	37	3	195599202	195599203	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:195599202_195599203delCT	uc003fvu.1	-	9	1938_1939	c.1395_1396delAG	c.(1393-1398)acagggfs	p.T465fs	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Del_p.T497fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.T528fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Frame_Shift_Del_p.T295fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	465	CRIB.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCGCCATGCCCTGTGTGGATGA	0.673												
PKD2	5311	broad.mit.edu	37	4	88987002	88987002	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr4:88987002C>T	uc003hre.3	+	11	2416	c.2329C>T	c.(2329-2331)Cag>Tag	p.Q777*	PKD2_uc011cdf.2_Nonsense_Mutation_p.Q195*|PKD2_uc011cdg.2_Nonsense_Mutation_p.Q103*|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	777	EF-hand domain.|EF-hand.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGAACATCAGCAGATGAGAGA	0.443												
TERT	7015	broad.mit.edu	37	5	1279521	1279521	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:1279521C>T	uc003jcb.1	-	4	2073	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.R672H|TERT_uc003jca.1_Missense_Mutation_p.R672H|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.R124H	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	672	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.R672H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGGCCGGGGCGCCGCGCCCG	0.697									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis			
ADAMTS16	170690	broad.mit.edu	37	5	5222920	5222920	+	Missense_Mutation	SNP	T	T	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:5222920T>G	uc003jdl.3	+	10	1762	c.1624T>G	c.(1624-1626)Tgg>Ggg	p.W542G	ADAMTS16_uc003jdk.1_Missense_Mutation_p.W542G|ADAMTS16_uc003jdj.1_Missense_Mutation_p.W542G	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	542	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAAAGCCCTGTGGTGCCATCG	0.358												
BASP1	10409	broad.mit.edu	37	5	17275820	17275820	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:17275820C>T	uc003jfx.3	+	1	674	c.495C>T	c.(493-495)gaC>gaT	p.D165D	BASP1_uc021xws.1_Silent_p.D165D	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	165					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCAAAAGTGACGGGGCCCCAG	0.682												
FBN2	2201	broad.mit.edu	37	5	127728882	127728882	+	Missense_Mutation	SNP	C	C	T	rs138046782		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:127728882C>T	uc003kuu.3	-	9	1850	c.1411G>A	c.(1411-1413)Gtt>Att	p.V471I	FBN2_uc003kuv.2_Missense_Mutation_p.V438I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	471					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.V471I(3)|p.G470G(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTCCCCCAACGCCAGGAGAA	0.577												
PCDHGC5	56114	broad.mit.edu	37	5	140711985	140711985	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:140711985G>A	uc003lji.2	+	0	1734	c.1734G>A	c.(1732-1734)gcG>gcA	p.A578A	PCDHGC5_uc011dan.2_Silent_p.A578A	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	579	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCTCTCCG	0.657												
SPINK6	404203	broad.mit.edu	37	5	147585617	147585617	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:147585617G>A	uc003lpa.3	+	1	380	c.77G>A	c.(76-78)gGa>gAa	p.G26E	SPINK6_uc021yff.1_Missense_Mutation_p.G26E	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA.	26	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAGGGAGGACAGGTCAGT	0.383												
GPR116	221395	broad.mit.edu	37	6	46826170	46826170	+	Missense_Mutation	SNP	G	G	A	rs141322343	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr6:46826170G>A	uc003oyo.3	-	16	3759	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	GPR116_uc011dwj.1_Missense_Mutation_p.T712M|GPR116_uc011dwk.1_Missense_Mutation_p.T586M|GPR116_uc003oyp.3_Missense_Mutation_p.T1015M|GPR116_uc003oyq.3_Missense_Mutation_p.T1157M|GPR116_uc010jzi.1_Missense_Mutation_p.T829M	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1157					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTCTTCCTCGTATAGACTTC	0.557												
EGFR	1956	broad.mit.edu	37	7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					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.R108K(13)|p.V30_R297>G(5)		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)	CAGATCATCAGAGGAAATATG	0.423		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
EGFR	1956	broad.mit.edu	37	7	55240690	55240690	+	Missense_Mutation	SNP	C	C	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55240690C>G	uc003tqk.3	+	16	2180	c.1934C>G	c.(1933-1935)tCc>tGc	p.S645C	EGFR_uc022adm.1_Missense_Mutation_p.S645C|EGFR_uc010kzg.2_Missense_Mutation_p.S600C|EGFR_uc022adn.1_Missense_Mutation_p.S600C|EGFR_uc011kco.2_Missense_Mutation_p.S592C	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	645					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			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)	AAGATCCCGTCCATCGCCACT	0.612		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)		
TYW1	55253	broad.mit.edu	37	7	66482862	66482862	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:66482862G>A	uc003tvn.3	+	5	742	c.593G>A	c.(592-594)tGg>tAg	p.W198*	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	198	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GTTGACAAGTGGCTCTGGATG	0.512												
CD36	948	broad.mit.edu	37	7	80290463	80290463	+	Silent	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:80290463C>T	uc003uhc.3	+	7	1050	c.366C>T	c.(364-366)ttC>ttT	p.F122F	CD36_uc011kgv.2_Silent_p.F46F|CD36_uc003uhd.4_Silent_p.F122F|CD36_uc003uhe.4_Silent_p.F122F|CD36_uc003uhf.4_Silent_p.F122F|CD36_uc003uhg.4_Silent_p.F122F|CD36_uc003uhh.4_Silent_p.F122F|CD36_uc022agu.1_Silent_p.F122F|CD36_uc022agv.1_Silent_p.F122F	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	122					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTGCCATCTTCGAACCTTCAC	0.428												
SEMA3E	9723	broad.mit.edu	37	7	83034830	83034830	+	Frame_Shift_Del	DEL	C	C	-			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:83034830delC	uc003uhy.2	-	8	1555	c.934delG	c.(934-936)gttfs	p.V312fs	SEMA3E_uc022agy.1_Frame_Shift_Del_p.V252fs	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	312	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.D311Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGCAAAAAAACGTCCTCTGAA	0.313												
ANK1	286	broad.mit.edu	37	8	41521227	41521227	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:41521227C>T	uc003xok.3	-	39	5512	c.5428G>A	c.(5428-5430)Gtg>Atg	p.V1810M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.V964M|ANK1_uc003xoi.3_Missense_Mutation_p.V1810M|ANK1_uc003xoj.3_Missense_Mutation_p.V1810M|ANK1_uc003xol.3_Missense_Mutation_p.V1648M|ANK1_uc003xom.3_Missense_Mutation_p.V1851M|ANK1_uc003xof.3_Missense_Mutation_p.V85M|ANK1_uc011lcl.2_Missense_Mutation_p.V85M|ANK1_uc003xod.3_Missense_Mutation_p.V85M|ANK1_uc003xoc.3_Missense_Mutation_p.V85M	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1810	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCTCTGTCACCTGCTCCCCT	0.537												
RP1	6101	broad.mit.edu	37	8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:55537454C>T	uc003xsd.1	+	3	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	338					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAAAGTTCGATTCAGAAT	0.328												
SLCO5A1	81796	broad.mit.edu	37	8	70650427	70650427	+	Missense_Mutation	SNP	G	G	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:70650427G>T	uc003xyl.3	-	4	1978	c.1271C>A	c.(1270-1272)gCa>gAa	p.A424E	SLCO5A1_uc010lzb.3_Intron|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.A424E|SLCO5A1_uc010lzc.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	424						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGACAGCTGCTCTTGGTAG	0.348												
KLF10	7071	broad.mit.edu	37	8	103662460	103662460	+	Missense_Mutation	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:103662460G>A	uc011lhk.1	-	3	1497	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	KLF10_uc011lhj.1_Missense_Mutation_p.A437V	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	448					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGGCGCCGGGCATGCTTGGT	0.542												
HEMGN	55363	broad.mit.edu	37	9	100698486	100698486	+	Missense_Mutation	SNP	A	A	G			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr9:100698486A>G	uc004axy.3	-	1	248	c.140T>C	c.(139-141)gTg>gCg	p.V47A	HEMGN_uc004axz.3_Missense_Mutation_p.V47A	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	47	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTTTTCATGCACTTCAGCTTT	0.348												
CNKSR2	22866	broad.mit.edu	37	X	21450738	21450739	+	Frame_Shift_Ins	INS	-	-	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:21450738_21450739insT	uc004czx.2	+	2	717_718	c.237_238insT	c.(235-240)ggcttgfs	p.G79fs	CNKSR2_uc004czw.3_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjn.2_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjo.2_Frame_Shift_Ins_p.G79fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	79					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAATTATGGCTTGGAAACAGA	0.307												
SMC1A	8243	broad.mit.edu	37	X	53430549	53430549	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53430549C>T	uc004dsg.3	-	14	2438	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q	SMC1A_uc011moe.2_Missense_Mutation_p.R768Q	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	790			R -> Q (in CDLS2).		cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.R790Q(4)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCAAACTCCCGGATGTTGCG	0.517												
SMC1A	8243	broad.mit.edu	37	X	53438785	53438785	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53438785C>T	uc004dsg.3	-	6	1249	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	SMC1A_uc011moe.2_Missense_Mutation_p.E372K|SMC1A_uc011mof.2_Missense_Mutation_p.E160K	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	394					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTGAATTTCTCCAGCTCCTGG	0.498												
FRMD7	90167	broad.mit.edu	37	X	131212246	131212246	+	Missense_Mutation	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:131212246C>T	uc004ewn.3	-	11	1977	c.1799G>A	c.(1798-1800)cGt>cAt	p.R600H	FRMD7_uc022cdy.1_Missense_Mutation_p.R480H|FRMD7_uc011muy.2_Missense_Mutation_p.R585H	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	600					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAAAGGAAAACGAATAGTTTT	0.428												
MAP7D3	79649	broad.mit.edu	37	X	135301831	135301831	+	Splice_Site	SNP	C	C	T			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:135301831C>T	uc004ezt.3	-	17	2708	c.2487_splice	c.e17-1	p.R829_splice	MAP7D3_uc004ezs.3_Splice_Site_p.R794_splice|MAP7D3_uc011mwc.2_Splice_Site_p.R811_splice|MAP7D3_uc010nsa.2_Intron	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	829						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGAAGATGGTCTGGAAAGAGA	0.418												
AFF2	2334	broad.mit.edu	37	X	148038125	148038125	+	Silent	SNP	G	G	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:148038125G>A	uc004fcp.3	+	10	3029	c.2550G>A	c.(2548-2550)aaG>aaA	p.K850K	AFF2_uc004fcq.3_Silent_p.K840K|AFF2_uc004fcr.3_Silent_p.K811K|AFF2_uc011mxb.2_Silent_p.K815K|AFF2_uc004fcs.3_Silent_p.K817K|AFF2_uc011mxc.2_Silent_p.K491K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	850					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P849H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCCTAAGGGCAAACGTA	0.517												
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	Silent	SNP	T	T	A			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:155252868T>A	uc004fnw.1	+	5	1571	c.912T>A	c.(910-912)ccT>ccA	p.P304P	WASH6P_uc022cip.1_Silent_p.P90P	NM_182905	NP_878908			Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.									p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632												
