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
ZFYVE9	9372	broad.mit.edu	37	1	52704095	52704095	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:52704095G>T	uc001cto.3	+	3	1178	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	ZFYVE9_uc001ctn.3_Missense_Mutation_p.G336C|ZFYVE9_uc001ctp.3_Missense_Mutation_p.G336C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	336					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTCCGGTCTGGTTTACCTTT	0.468												
FLG	2312	broad.mit.edu	37	1	152275656	152275656	+	Silent	SNP	G	G	A	rs147335121		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152275656G>A	uc001ezu.1	-	2	11742	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3902L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517									Ichthyosis			
FLG2	388698	broad.mit.edu	37	1	152329436	152329436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152329436G>A	uc001ezw.4	-	2	899	c.826C>T	c.(826-828)Cga>Tga	p.R276*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	276	Ser-rich.		R -> Q (in dbSNP:rs2282303).				calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCATGACTTCGCCTCCCACTG	0.448												
PFDN2	5202	broad.mit.edu	37	1	161072146	161072146	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:161072146C>T	uc001fxu.3	-	1	145	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	Homo sapiens prefoldin subunit 2 (PFDN2), mRNA.	32				GFNRLR -> SFNAF (in Ref. 3; AAF36151).	'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCGAAGGCGGTTGAAGCC	0.527												
HMCN1	83872	broad.mit.edu	37	1	186114957	186114957	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:186114957G>A	uc001grq.1	+	92	14739	c.14510G>A	c.(14509-14511)cGg>cAg	p.R4837Q	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R406Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4837	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAGACTCGGAAGCGGCTG	0.552												
CACNA1S	779	broad.mit.edu	37	1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	rs9333651		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:201047161G>A	uc001gvv.3	-	10	1692	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	489					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)	AAGTACTGGCGCAGGCCCAGC	0.582												
USH2A	7399	broad.mit.edu	37	1	215853692	215853692	+	Silent	SNP	G	G	A	rs55921307	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:215853692G>A	uc001hku.1	-	61	12480	c.12093C>T	c.(12091-12093)taC>taT	p.Y4031Y		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4031	Fibronectin type-III 25.				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)		GTTCTAACCCGTACAGGTGGG	0.388										HNSCC(13;0.011)		
PTEN	5728	broad.mit.edu	37	10	89693009	89693009	+	Splice_Site	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:89693009G>T	uc001kfb.3	+	5	1524	c.492_splice	c.e5+1	p.K164_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	164	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.R55fs*1(5)|p.?(3)|p.Y27fs*1(2)|p.K163_V166>NKGE(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)		AGACAAAAAGGTAAGTTATTT	0.348		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)		
PIK3AP1	118788	broad.mit.edu	37	10	98411291	98411291	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:98411291G>A	uc001kmq.3	-	4	958	c.830C>T	c.(829-831)gCg>gTg	p.A277V	PIK3AP1_uc001kmp.3_Missense_Mutation_p.A99V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	277	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CACAGGATTCGCGGCATTGGA	0.398												
CNGA4	1262	broad.mit.edu	37	11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:6261464C>T	uc001mco.3	+	3	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.A107V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	147					response to stimulus|sensory perception of smell		cAMP binding	p.A147V(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587												
OR5D14	219436	broad.mit.edu	37	11	55563770	55563770	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:55563770C>A	uc010rim.2	+	0	739	c.739C>A	c.(739-741)Ctg>Atg	p.L247M		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGCCTCCCACCTGACTTCTAT	0.453												
DDI1	414301	broad.mit.edu	37	11	103908142	103908142	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:103908142C>G	uc001phr.2	+	0	835	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	198					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCAAGAGAGGCTTCGTCTCTA	0.522												
OR8A1	390275	broad.mit.edu	37	11	124440263	124440263	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:124440263T>A	uc010san.2	+	0	299	c.299T>A	c.(298-300)gTg>gAg	p.V100E		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAGATGCTGGTGAACTTTGTG	0.463												
ANKRD33	341405	broad.mit.edu	37	12	52284606	52284606	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:52284606C>A	uc001rzd.3	+	4	1054	c.876C>A	c.(874-876)agC>agA	p.S292R	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S167R|ANKRD33_uc001rze.3_Missense_Mutation_p.S188R|ANKRD33_uc001rzg.4_Missense_Mutation_p.S94R|ANKRD33_uc001rzi.4_Missense_Mutation_p.S167R	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	167										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTACCTTGAGCCTCCCCTTTG	0.667												
OR6C3	254786	broad.mit.edu	37	12	55726370	55726370	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:55726370C>A	uc010spj.2	+	0	886	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCAAGTAAAACAAGCCTTCAA	0.338												
PTPRB	5787	broad.mit.edu	37	12	70933755	70933755	+	Missense_Mutation	SNP	C	C	T	rs139546127	by1000genomes	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:70933755C>T	uc001swb.4	-	21	5018	c.4988G>A	c.(4987-4989)cGa>cAa	p.R1663Q	PTPRB_uc010sto.2_Missense_Mutation_p.R1573Q|PTPRB_uc010stp.2_Missense_Mutation_p.R1573Q|PTPRB_uc001swc.4_Missense_Mutation_p.R1881Q|PTPRB_uc001swa.4_Missense_Mutation_p.R1793Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1663					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGATAATGGTCGATCCCTACG	0.413												
PTPRR	5801	broad.mit.edu	37	12	71286587	71286587	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:71286587G>A	uc001swi.2	-	1	643	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	77					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R77H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCTGGTGGCGTTTGCTTACT	0.448												
C12orf63	374467	broad.mit.edu	37	12	97073486	97073486	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:97073486G>A	uc021rcc.1	+	6	1025	c.947G>A	c.(946-948)cGa>cAa	p.R316Q				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	316										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGATCAATCCGACACAGCAGA	0.453												
OASL	8638	broad.mit.edu	37	12	121465457	121465457	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:121465457C>G	uc001tzj.1	-	3	827	c.821G>C	c.(820-822)tGt>tCt	p.C274S	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	274					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGTAGATACAGATGACTTC	0.453												
EP400	57634	broad.mit.edu	37	12	132512816	132512816	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:132512816G>A	uc001ujn.3	+	26	5516	c.5364G>A	c.(5362-5364)ctG>ctA	p.L1788L	EP400_uc021rgq.1_Silent_p.L1787L|EP400_uc001ujm.3_Silent_p.L1707L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1824					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAGAGTCTCTGCAGGATGTTA	0.557												
KCNK10	54207	broad.mit.edu	37	14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr14:88652226G>A	uc001xwm.3	-	6	1407	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	KCNK10_uc001xwn.3_Missense_Mutation_p.R429C|KCNK10_uc001xwo.3_Missense_Mutation_p.R424C	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	424					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P428P(1)|p.P428T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607												
FAN1	22909	broad.mit.edu	37	15	31197005	31197005	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr15:31197005T>C	uc001zff.3	+	1	430	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	FAN1_uc001zfc.3_Missense_Mutation_p.C47R|FAN1_uc010azw.2_Missense_Mutation_p.C47R|FAN1_uc001zfd.3_Missense_Mutation_p.C47R|FAN1_uc001zfe.3_5'UTR	NM_014967	NP_055782	Q9Y2M0	FAN1_HUMAN	Homo sapiens FANCD2/FANCI-associated nuclease 1 (FAN1), transcript variant 1, mRNA.	47					double-strand break repair via homologous recombination|nucleotide-excision repair, DNA incision	nucleus	5'-3' exonuclease activity|5'-flap endonuclease activity|DNA binding|magnesium ion binding|phosphodiesterase I activity|ubiquitin binding			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CTGCCCCGTTTGCAGTAAAAT	0.403								Direct reversal of damage				
AXIN1	8312	broad.mit.edu	37	16	339599	339599	+	Nonsense_Mutation	SNP	G	G	T	rs138816818		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:339599G>T	uc002cgp.2	-	9	2692	c.2303C>A	c.(2302-2304)tCg>tAg	p.S768*	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Nonsense_Mutation_p.S732*	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	768	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTTCCTCTGCGATCTTGTCCT	0.637												
ATF7IP2	80063	broad.mit.edu	37	16	10534246	10534246	+	Missense_Mutation	SNP	G	G	A	rs141687995		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:10534246G>A	uc002czw.3	+	4	1280	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R374H|ATF7IP2_uc002czv.3_Missense_Mutation_p.R374H|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CTTCAAAGACGTATTAAAACA	0.289												
ACSM5	54988	broad.mit.edu	37	16	20442617	20442617	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:20442617C>T	uc002dhe.3	+	9	1429	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	428					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R427Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCCACTCGGCCCTTCTGTTT	0.488												
ITGAM	3684	broad.mit.edu	37	16	31308873	31308873	+	Silent	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:31308873C>T	uc002ebr.3	+	12	1493	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	ITGAM_uc002ebq.3_Silent_p.D465D|ITGAM_uc010cam.1_Missense_Mutation_p.R69C|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	465					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTCCGTGGACGTGGACAGCA	0.627												
ZFHX3	463	broad.mit.edu	37	16	72821854	72821854	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:72821854C>A	uc002fck.3	-	9	10994	c.10321G>T	c.(10321-10323)Gag>Tag	p.E3441*	ZFHX3_uc002fcl.3_Nonsense_Mutation_p.E2527*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3441					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTTCTGGCTCTTCAGGGAGT	0.557												
TUBB8P7	197331	broad.mit.edu	37	16	90160884	90160884	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:90160884G>A	uc002fqq.3	+						BC139719_uc002fqp.3_Silent_p.P119P					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.																		TTCCCCCACCGCCCTCCTGGG	0.731												
MYH1	4619	broad.mit.edu	37	17	10399320	10399320	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10399320C>T	uc002gmo.3	-	34	5210	c.5116G>A	c.(5116-5118)Gca>Aca	p.A1706T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1706						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.I1705I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGTTCTGCGATTTTCCTG	0.532												
MYH2	4620	broad.mit.edu	37	17	10427956	10427956	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10427956G>A	uc010coi.3	-	34	5130	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1668W|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1668					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGGCTCCGGAGAGCATCA	0.572												
ACACA	31	broad.mit.edu	37	17	35615262	35615262	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:35615262C>G	uc002hnm.3	-	12	1614	c.1423G>C	c.(1423-1425)Gat>Cat	p.D475H	ACACA_uc002hnk.3_Missense_Mutation_p.D397H|ACACA_uc002hnl.3_Missense_Mutation_p.D417H|ACACA_uc002hnn.3_Missense_Mutation_p.D475H|ACACA_uc002hno.3_Missense_Mutation_p.D512H|ACACA_uc010cuz.3_Missense_Mutation_p.D475H	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	475	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACGGATATCCTTGATTCTA	0.413												
MKS1	54903	broad.mit.edu	37	17	56294074	56294074	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:56294074C>T	uc002ivr.2	-	2	289	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Missense_Mutation_p.E62K	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	72					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.D71V(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTCCTCTTCGTCTTCCTCT	0.483												
CDR2L	30850	broad.mit.edu	37	17	73000053	73000053	+	Missense_Mutation	SNP	C	C	T	rs144796205	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73000053C>T	uc002jml.4	+	4	1694	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W		NM_014603	NP_055418	Q86X02	CDR2L_HUMAN	Homo sapiens cerebellar degeneration-related protein 2-like (CDR2L), mRNA.	428												all_lung(278;0.226)					CGTGGACAAGCGGCTGGAACA	0.612												
ITGB4	3691	broad.mit.edu	37	17	73725429	73725429	+	Missense_Mutation	SNP	G	G	A	rs144968507		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73725429G>A	uc002jpg.3	+	6	837	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	ITGB4_uc002jph.3_Missense_Mutation_p.R217Q|ITGB4_uc010dgo.3_Missense_Mutation_p.R217Q|ITGB4_uc002jpi.4_Missense_Mutation_p.R217Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpj.3_Missense_Mutation_p.R217Q|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	217	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGAGTTCCGGAATAAACTG	0.602												
ROCK1	6093	broad.mit.edu	37	18	18547745	18547745	+	Nonsense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:18547745T>A	uc002kte.3	-	25	4101	c.3160A>T	c.(3160-3162)Aaa>Taa	p.K1054*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1054					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTGATGTTTCACTACCATC	0.353												
CTAGE1	64693	broad.mit.edu	37	18	19996798	19996798	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:19996798T>A	uc002ktv.1	-	0	1081	c.977A>T	c.(976-978)aAt>aTt	p.N326I		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	326						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGTCTGAAGATTTTTAATATG	0.308												
DSC2	1824	broad.mit.edu	37	18	28673541	28673541	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:28673541G>A	uc002kwl.4	-	1	589	c.135C>T	c.(133-135)gcC>gcT	p.A45A	DSC2_uc002kwk.4_Silent_p.A45A|DSC2_uc010xbo.1_Silent_p.A45A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	45					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAGTTTCTCGGCATCTAGTT	0.338												
SMAD4	4089	broad.mit.edu	37	18	48604808	48604808	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:48604808C>T	uc010xdp.2	+	11	2168	c.1630C>T	c.(1630-1632)Ccg>Tcg	p.P544S	SMAD4_uc002lfb.4_Missense_Mutation_p.P389S	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	544	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.P544P(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCATACCATGCCGATTGCAGA	0.458												
SERPINB3	6318	broad.mit.edu	37	18	61305084	61305084	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:61305084C>T	uc002ljf.3	-	7	1128	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	SERPINB3_uc002lje.3_Missense_Mutation_p.A327T|SERPINB3_uc002ljg.3_Missense_Mutation_p.A348T	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	348					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.A348T(1)|p.A348S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACTACTACAGCGGTGGCAGCT	0.468												
FBN3	84467	broad.mit.edu	37	19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:8190851C>T	uc002mjf.3	-	20	2673	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	886	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			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						GCAGTGTTGACGCAACGCCCG	0.637												
MUC16	94025	broad.mit.edu	37	19	9068764	9068764	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:9068764G>T	uc002mkp.3	-	2	18886	c.18682C>A	c.(18682-18684)Ctt>Att	p.L6228I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6230	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGTCACAAGGAGAGGTGCC	0.478												
RTBDN	83546	broad.mit.edu	37	19	12939705	12939705	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:12939705G>A	uc002mvj.3	-	3	646	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RTBDN_uc002mvh.1_Missense_Mutation_p.R110C|RTBDN_uc002mvi.3_Missense_Mutation_p.R78C|RTBDN_uc021upo.1_Missense_Mutation_p.R88C	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	78						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						ACTCCACAGCGTTCTGGATGG	0.582												
GTPBP3	84705	broad.mit.edu	37	19	17450006	17450006	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:17450006C>A	uc002ngg.4	+	4	930	c.835C>A	c.(835-837)Cgc>Agc	p.R279S	GTPBP3_uc010xpo.2_Missense_Mutation_p.R269S|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.R247S|GTPBP3_uc002ngh.4_Missense_Mutation_p.R247S	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	247					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCAGAGGCTCCGCTCAGGGGT	0.662												
UBA52	7311	broad.mit.edu	37	19	18684123	18684123	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:18684123G>C	uc002njr.3	+	1	127	c.13G>C	c.(13-15)Gtg>Ctg	p.V5L	UBA52_uc002njs.3_Missense_Mutation_p.V5L|UBA52_uc021uqs.1_5'Flank	NM_001033930	NP_003324	P62987	RL40_HUMAN	Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA.	5	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						GCAGATCTTTGTGAAGACCCT	0.517												
ZNF787	126208	broad.mit.edu	37	19	56614551	56614551	+	Silent	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:56614551C>T	uc010eth.1	-	1	155	c.36G>A	c.(34-36)ccG>ccA	p.P12P	ZNF787_uc002qml.1_Silent_p.P12P	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CAGAATCCAGCGGCCCCGGAG	0.632												
ZFP28	140612	broad.mit.edu	37	19	57060380	57060380	+	Missense_Mutation	SNP	G	G	A	rs142184982		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:57060380G>A	uc002qnj.3	+	4	648	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ZFP28_uc002qni.3_Missense_Mutation_p.E193K|BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C192C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGACTTCTGCGAAGGAAAGCT	0.413												
NRXN1	9378	broad.mit.edu	37	2	50765581	50765581	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:50765581G>A	uc021vhh.1	-	8	2874	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	NRXN1_uc002rxb.4_Silent_p.G323G|NRXN1_uc021vhg.1_Silent_p.G691G|NRXN1_uc021vhi.1_Silent_p.G687G|NRXN1_uc021vhj.1_Silent_p.G647G|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	651	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTGCTTTGGCCATCGATGA	0.502												
PSD4	23550	broad.mit.edu	37	2	113940279	113940279	+	Silent	SNP	C	C	T	rs147089589		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:113940279C>T	uc002tjc.3	+	1	429	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	82					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622												
SLC4A10	57282	broad.mit.edu	37	2	162815003	162815003	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:162815003C>T	uc002ubx.4	+	20	2984	c.2800C>T	c.(2800-2802)Ccc>Tcc	p.P934S	SLC4A10_uc010zcs.2_Missense_Mutation_p.P915S|SLC4A10_uc002uby.4_Missense_Mutation_p.P904S	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	934					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACAGTTTATTCCCATGCCAGT	0.343												
TTN	7273	broad.mit.edu	37	2	179469893	179469893	+	Missense_Mutation	SNP	T	T	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:179469893T>G	uc021vsy.1	-	228	46532	c.46307A>C	c.(46306-46308)gAa>gCa	p.E15436A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9131A|TTN_uc021vta.1_Missense_Mutation_p.E9064A|TTN_uc021vtb.1_Missense_Mutation_p.E8939A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16363	Fibronectin type-III 12.						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)			AATTACAGTTTCATTTTTGGA	0.468												
ZNF804A	91752	broad.mit.edu	37	2	185802437	185802437	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:185802437C>T	uc002uph.3	+	3	2908	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	772						intracellular	zinc ion binding	p.R772C(2)|p.R772R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTATCGAAAACGTAGACAACA	0.343												
NBEAL1	65065	broad.mit.edu	37	2	204000539	204000539	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:204000539T>C	uc002uzt.3	+	26	4199	c.3866T>C	c.(3865-3867)gTt>gCt	p.V1289A	NBEAL1_uc021vvj.1_5'UTR	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1289							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTAGAGCTGTTTTAATGAAA	0.343												
MRPS26	64949	broad.mit.edu	37	20	3027090	3027090	+	Frame_Shift_Del	DEL	C	C	-			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:3027090delC	uc002whs.3	+	1	324	c.284delC	c.(283-285)gccfs	p.A95fs		NM_030811	NP_110438	Q9BYN8	RT26_HUMAN	Homo sapiens mitochondrial ribosomal protein S26 (MRPS26), nuclear gene encoding mitochondrial protein, mRNA.	95					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						GAGCGCAAGGCCCTGAAGGAC	0.716												
SNX21	90203	broad.mit.edu	37	20	44469563	44469563	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:44469563C>T	uc002xpv.1	+	3	822	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R56W|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R56W|SNX21_uc002xpz.1_Missense_Mutation_p.R56W	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	245	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCCGGAGCTGCGGCGGGCACA	0.662												
PREX1	57580	broad.mit.edu	37	20	47276521	47276521	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:47276521C>T	uc002xtw.1	-	15	1840	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	606					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTTGTTCTTGCTGCTGGTCCC	0.562												
TBC1D22A	25771	broad.mit.edu	37	22	47507479	47507479	+	Missense_Mutation	SNP	C	C	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr22:47507479C>G	uc003bib.3	+	11	1571	c.1405C>G	c.(1405-1407)Cta>Gta	p.L469V	TBC1D22A_uc010haf.3_Missense_Mutation_p.L439V|TBC1D22A_uc003bie.3_Missense_Mutation_p.L391V|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.L422V	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	469						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GAAGGAAATACTAGAAGAAAA	0.368												
TRAK1	22906	broad.mit.edu	37	3	42242538	42242538	+	Silent	SNP	C	C	T	rs143049389	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:42242538C>T	uc003cky.3	+	11	1635	c.1419C>T	c.(1417-1419)gcC>gcT	p.A473A	TRAK1_uc011azh.2_Silent_p.A473A|TRAK1_uc011azi.2_Silent_p.A473A|TRAK1_uc003ckz.4_Silent_p.A399A|TRAK1_uc011azj.2_Silent_p.A399A|TRAK1_uc003cla.3_Silent_p.A415A	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	473	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CAGAGGCAGCCGACCTGGGGT	0.542												
CADM2	253559	broad.mit.edu	37	3	85932587	85932587	+	Missense_Mutation	SNP	G	G	A	rs138383256		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:85932587G>A	uc003dql.3	+	2	364	c.364G>A	c.(364-366)Gtt>Att	p.V122I	CADM2_uc003dqj.3_Missense_Mutation_p.V120I|CADM2_uc003dqk.3_Missense_Mutation_p.V129I|CADM2_uc003dqm.2_Missense_Mutation_p.V12I|CADM2_uc021xay.1_Missense_Mutation_p.V12I|CADM2_uc021xaz.1_Missense_Mutation_p.V12I|CADM2_uc021xba.1_Missense_Mutation_p.V12I	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	120					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATATCTCACCGTTCTGGGTAA	0.358												
MYLK	4638	broad.mit.edu	37	3	123333123	123333123	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:123333123G>A	uc003ego.3	-	33	5856	c.5574C>T	c.(5572-5574)gaC>gaT	p.D1858D	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.D98D|MYLK_uc003egm.3_Silent_p.D97D|MYLK_uc010hrr.3_Silent_p.D293D|MYLK_uc011bjv.2_Silent_p.D658D|MYLK_uc011bjw.2_Silent_p.D1857D|MYLK_uc003egp.3_Silent_p.D1789D|MYLK_uc003egq.3_Silent_p.D1807D|MYLK_uc003egr.3_Silent_p.D1738D|MYLK_uc003egs.3_Silent_p.D1682D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1858	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTCATCGTAGTCTATCTGGA	0.502												
ZBBX	79740	broad.mit.edu	37	3	167035369	167035369	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:167035369G>C	uc011bpc.2	-	12	1337	c.1000C>G	c.(1000-1002)Ctt>Gtt	p.L334V	ZBBX_uc003feq.3_Missense_Mutation_p.L305V|ZBBX_uc003fep.3_Missense_Mutation_p.L334V	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	334						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTAAAAAGTTGCTCTTGT	0.348												
ABCC5	10057	broad.mit.edu	37	3	183665139	183665139	+	Silent	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:183665139C>A	uc003fmg.3	-	22	3552	c.3387G>T	c.(3385-3387)gcG>gcT	p.A1129A	ABCC5_uc011bqt.2_Silent_p.A657A|ABCC5_uc010hxl.3_Silent_p.A1086A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1129	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGCGAGACCCGCATAGGCTG	0.567												
EIF4G1	1981	broad.mit.edu	37	3	184044341	184044341	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:184044341G>A	uc003fnp.3	+	21	3520	c.3249G>A	c.(3247-3249)caG>caA	p.Q1083Q	EIF4G1_uc010hxx.3_Silent_p.Q1090Q|EIF4G1_uc003fnt.3_Silent_p.Q794Q|EIF4G1_uc010hxy.3_Silent_p.Q1090Q|EIF4G1_uc003fnq.3_Silent_p.Q996Q|EIF4G1_uc003fnr.3_Silent_p.Q919Q|EIF4G1_uc003fns.3_Silent_p.Q1043Q|EIF4G1_uc003fnv.4_Silent_p.Q1084Q|EIF4G1_uc003fnw.3_Silent_p.Q1090Q|EIF4G1_uc003fnx.3_Silent_p.Q888Q	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1083	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTAACAACCAGCTCTTTGCAC	0.587												
CCDC96	257236	broad.mit.edu	37	4	7043696	7043696	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:7043696C>A	uc003gjv.2	-	0	1033	c.970G>T	c.(970-972)Gag>Tag	p.E324*	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	324										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CACTCCTTCTCCACCCTGGTG	0.642												
FGFBP1	9982	broad.mit.edu	37	4	15937922	15937922	+	Missense_Mutation	SNP	A	A	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:15937922A>G	uc003gom.3	-	2	629	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	FGFBP1_uc021xml.1_Missense_Mutation_p.Y112H	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	112					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TGTTTCCAATAGACTCTCTCA	0.448												
ARAP2	116984	broad.mit.edu	37	4	36168644	36168644	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:36168644G>C	uc003gsq.2	-	9	2221	c.1883C>G	c.(1882-1884)aCc>aGc	p.T628S	ARAP2_uc003gsr.1_Missense_Mutation_p.T628S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	628	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.T628P(1)|p.T628T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGGAATTATGGTAATACCAAG	0.294												
RBM47	54502	broad.mit.edu	37	4	40440352	40440352	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:40440352C>T	uc003gvc.2	-	3	1269	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	RBM47_uc003gvd.2_Missense_Mutation_p.A187T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A149T|RBM47_uc003gvg.1_Missense_Mutation_p.A187T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	187	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGTCGGCCGCGCTGGCGTAG	0.637												
TMEM150C	441027	broad.mit.edu	37	4	83417295	83417295	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:83417295G>T	uc011ccj.1	-	5	494	c.379C>A	c.(379-381)Ccg>Acg	p.P127T	TMEM150C_uc003hmy.1_Missense_Mutation_p.P97T	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	97						integral to membrane				ovary(1)	1						TTCAGCCACGGGTTTAAAACC	0.418												
ENPEP	2028	broad.mit.edu	37	4	111430927	111430927	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:111430927G>T	uc003iab.4	+	4	1500	c.1158G>T	c.(1156-1158)agG>agT	p.R386S		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	386					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACCAACAGAGGGTGGCCACTG	0.453												
ALPK1	80216	broad.mit.edu	37	4	113353567	113353567	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:113353567G>A	uc003ian.4	+	10	3091	c.2864G>A	c.(2863-2865)gGg>gAg	p.G955E	ALPK1_uc003iap.4_Missense_Mutation_p.G955E|ALPK1_uc011cfx.2_Missense_Mutation_p.G877E|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.G783E	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	955	Ser-rich.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATTCCAGTGGGAGTTCTTGG	0.512												
PPID	5481	broad.mit.edu	37	4	159638287	159638287	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:159638287A>C	uc003iqc.3	-	3	511	c.399T>G	c.(397-399)ttT>ttG	p.F133L		NM_005038	NP_005029	Q08752	PPID_HUMAN	Homo sapiens peptidylprolyl isomerase D (PPID), mRNA.	133	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CTGTTGTGATAAAAAACTGAG	0.403												
TUBB7P	56604	broad.mit.edu	37	4	190903815	190903815	+	Missense_Mutation	SNP	G	G	A	rs17799221		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:190903815G>A	uc011clg.2	-	3	1170	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C				Q99867	TBB4Q_HUMAN	Synthetic construct DNA, clone: pF1KB7231, Homo sapiens TUBB4Q gene for tubulin, beta polypeptide 4, member Q, without stop codon, in Flexi system.	390					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity										AAGGCCTTGCGCCTGAACGTT	0.547												
PIK3R1	5295	broad.mit.edu	37	5	67591085	67591085	+	Missense_Mutation	SNP	G	G	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:67591085G>C	uc003jva.3	+	12	2258	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	PIK3R1_uc003jvc.3_Missense_Mutation_p.D260H|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290H|PIK3R1_uc003jve.3_Missense_Mutation_p.D239H|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197H|PIK3R1_uc011crb.2_Missense_Mutation_p.D230H	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	560					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560H(2)|p.D560_S565del(2)|p.R557_K561>Q(2)|p.D560Y(2)|p.0?(1)|p.?(1)|p.R557_D560del(1)|p.I559V(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCGAGAAATTGACAAACGTAT	0.358			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)		
MCTP1	79772	broad.mit.edu	37	5	94288921	94288921	+	Splice_Site	SNP	A	A	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:94288921A>G	uc003kkx.2	-	3	981	c.981_splice	c.e3+1	p.K327_splice	MCTP1_uc003kkv.2_Splice_Site_p.K106_splice|MCTP1_uc003kkw.2_Splice_Site_p.K106_splice|MCTP1_uc003kkz.2_Splice_Site	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	327	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAAATGGCTCACCTTTATATA	0.363												
YIPF5	81555	broad.mit.edu	37	5	143540055	143540055	+	Missense_Mutation	SNP	A	A	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:143540055A>C	uc003lnk.4	-	5	1121	c.680T>G	c.(679-681)tTt>tGt	p.F227C	YIPF5_uc003lnl.4_Missense_Mutation_p.F227C|YIPF5_uc010jgl.3_Missense_Mutation_p.F173C	NM_001024947	NP_110426	Q969M3	YIPF5_HUMAN	Homo sapiens Yip1 domain family, member 5 (YIPF5), transcript variant 1, mRNA.	227					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGCAGAAATAAATATTTTGGA	0.388												
FAT2	2196	broad.mit.edu	37	5	150921921	150921921	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:150921921C>T	uc003lue.4	-	8	8780	c.8767G>A	c.(8767-8769)Gaa>Aaa	p.E2923K		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2923	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCACCAGTTCGCCAGGCTCA	0.512												
TIMD4	91937	broad.mit.edu	37	5	156378745	156378747	+	In_Frame_Del	DEL	TTG	TTG	-			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:156378745_156378747delTTG	uc003lwh.2	-	2	512_514	c.455_457delCAA	c.(454-459)acaagc>agc	p.T152del	TIMD4_uc010jii.2_In_Frame_Del_p.T152del	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	152	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGGGCTTGTTGTTGTTGT	0.537												
BTN3A2	11118	broad.mit.edu	37	6	26373202	26373202	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:26373202G>A	uc010jqh.2	+	5	1052	c.793G>A	c.(793-795)Gga>Aga	p.G265R	BTN3A2_uc003nhp.3_Missense_Mutation_p.G265R|BTN3A2_uc011dkd.2_Missense_Mutation_p.G223R|BTN3A2_uc011dke.2_Missense_Mutation_p.G242R|BTN3A2_uc010jqi.2_Missense_Mutation_p.G265R	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	265						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GCTTCTCGCCGGAGCCAGTTA	0.542												
PRSS35	167681	broad.mit.edu	37	6	84234218	84234218	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:84234218G>A	uc003pjz.3	+	1	1298	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PRSS35_uc010kbm.3_Missense_Mutation_p.R353H|PRSS35_uc021zce.1_Missense_Mutation_p.R353H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	353	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R353H(2)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTCTATCTGCGTCTGAAAGAT	0.512												
REPS1	85021	broad.mit.edu	37	6	139251126	139251126	+	Frame_Shift_Del	DEL	A	A	-			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:139251126delA	uc003qii.3	-	8	1824	c.1245delT	c.(1243-1245)aatfs	p.N415fs	REPS1_uc003qig.4_Frame_Shift_Del_p.N415fs|REPS1_uc011edr.2_Frame_Shift_Del_p.N415fs|REPS1_uc003qij.3_Frame_Shift_Del_p.N415fs|REPS1_uc003qik.3_Frame_Shift_Del_p.N48fs	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	415						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACTGCTCTGATTCAGCTCAG	0.448												
OPRM1	4988	broad.mit.edu	37	6	154412222	154412222	+	Missense_Mutation	SNP	G	G	A	rs1799974		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:154412222G>A	uc011efe.2	+	4	1581	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	OPRM1_uc011efd.2_Missense_Mutation_p.R160H|OPRM1_uc011efc.1_Missense_Mutation_p.R179H|OPRM1_uc003qpn.2_Missense_Mutation_p.R260H|OPRM1_uc003qpo.1_Missense_Mutation_p.R260H|OPRM1_uc011eff.1_Missense_Mutation_p.R260H|OPRM1_uc011efg.1_Missense_Mutation_p.R260H|OPRM1_uc011efi.2_Missense_Mutation_p.R260H|OPRM1_uc011efh.1_Missense_Mutation_p.R260H|OPRM1_uc003qpq.1_Missense_Mutation_p.R260H|OPRM1_uc003qpr.2_Missense_Mutation_p.R260H|OPRM1_uc003qpt.1_Missense_Mutation_p.R260H|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.R160H|OPRM1_uc003qpu.2_Missense_Mutation_p.R160H	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	260					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R260H(4)|p.R353H(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATGATCTTGCGCCTCAAGAGT	0.502												
RABGEF1	27342	broad.mit.edu	37	7	66240254	66240254	+	Missense_Mutation	SNP	A	A	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:66240254A>T	uc003tvf.3	+	5					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Missense_Mutation_p.S74C|RABGEF1_uc010lag.3_Missense_Mutation_p.S74C|RABGEF1_uc011kee.2_Missense_Mutation_p.S88C|RABGEF1_uc003tvi.3_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAGCAGTCAGAGCAGCCAAGG	0.473												
PPP1R3A	5506	broad.mit.edu	37	7	113519322	113519322	+	Missense_Mutation	SNP	C	C	T	rs144397367		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:113519322C>T	uc010ljy.1	-	3	1856	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	609					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTCCTAAAGCGCTGCCTTCA	0.403												
PRSS3P2	154754	broad.mit.edu	37	7	142479940	142479940	+	Silent	SNP	C	C	T	rs58649169	by1000genomes	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:142479940C>T	uc011ksq.2	+	1	155	c.72C>T	c.(70-72)atC>atT	p.I24I	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron|PRSS3P2_uc011ksr.1_Non-coding_Transcript					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ATGACAAGATCGTTGGGGGCT	0.557												
ZNF786	136051	broad.mit.edu	37	7	148769373	148769373	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:148769373C>T	uc003wfh.2	-	3	628	c.491G>A	c.(490-492)gGa>gAa	p.G164E	ZNF786_uc011kuk.1_Missense_Mutation_p.G127E|ZNF786_uc003wfi.2_Missense_Mutation_p.G78E	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACCTGGGATTCCTTCTTTTAG	0.617												
KRBA1	84626	broad.mit.edu	37	7	149427522	149427522	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:149427522G>A	uc003wfz.3	+	15	2406	c.2007G>A	c.(2005-2007)agG>agA	p.R669R	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.R277R	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	670	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTTAGAGAGGGACCGCCTTC	0.642												
NSMAF	8439	broad.mit.edu	37	8	59512581	59512581	+	Splice_Site	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:59512581C>T	uc011lee.2	-	17	1435	c.1374_splice	c.e17-1	p.S458_splice	NSMAF_uc003xtt.3_Splice_Site_p.S427_splice	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	427	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTCTGCAATACTACATATGAA	0.373												
PKHD1L1	93035	broad.mit.edu	37	8	110497284	110497284	+	Silent	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:110497284G>A	uc003yne.3	+	57	9692	c.9588G>A	c.(9586-9588)gaG>gaA	p.E3196E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3196					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.E3195D(1)|p.G3196R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGAGAAGAGATTGTGATAA	0.284										HNSCC(38;0.096)		
TRPS1	7227	broad.mit.edu	37	8	116426785	116426785	+	Missense_Mutation	SNP	G	G	T	rs145393309		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:116426785G>T	uc003yny.3	-	6	3929	c.3351C>A	c.(3349-3351)ttC>ttA	p.F1117L	TRPS1_uc011lhy.2_Missense_Mutation_p.F1108L|TRPS1_uc003ynz.3_Missense_Mutation_p.F1104L|TRPS1_uc010mcy.3_Missense_Mutation_p.F1104L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1104	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F1104F(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCACTCTGGAAGTCATTAT	0.473									Langer-Giedion syndrome			
COL14A1	7373	broad.mit.edu	37	8	121293282	121293282	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:121293282G>A	uc003yox.3	+	30	4073	c.3808G>A	c.(3808-3810)Gtt>Att	p.V1270I	COL14A1_uc003yoz.3_Missense_Mutation_p.V235I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1270	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGATGCCCTGGTTTCCCAGCC	0.378												
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	Silent	SNP	A	A	G			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr9:141071110A>G	uc010ncq.3	+	4										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597												
POLA1	5422	broad.mit.edu	37	X	24766501	24766501	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:24766501G>A	uc004dbl.3	+	24	2762	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	916					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	p.R916Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AGAGAGATCCGGAAACTGGTA	0.398												
MAGEB2	4113	broad.mit.edu	37	X	30236767	30236767	+	Missense_Mutation	SNP	G	G	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30236767G>T	uc022buf.1	+	0	70	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C	MAGEB2_uc004dbz.3_Missense_Mutation_p.G24C	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	24							protein binding	p.R23W(1)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGAGACCCGGGGTCTCAATGT	0.577												
MAGEB4	4115	broad.mit.edu	37	X	30260607	30260607	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30260607T>A	uc004dcb.3	+	0	551	c.355T>A	c.(355-357)Ttc>Atc	p.F119I	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	119	MAGE.							p.Q118K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GTTAGTGCAGTTCCTGCTGTA	0.443												
DMD	1756	broad.mit.edu	37	X	32404521	32404521	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:32404521C>T	uc004dda.1	-	32	4824	c.4580G>A	c.(4579-4581)cGt>cAt	p.R1527H	DMD_uc004dcw.2_Missense_Mutation_p.R183H|DMD_uc004dcx.2_Missense_Mutation_p.R186H|DMD_uc004dcz.2_Missense_Mutation_p.R1404H|DMD_uc004dcy.1_Missense_Mutation_p.R1523H|DMD_uc004ddb.1_Missense_Mutation_p.R1519H|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1527	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACAATCTGACGTCCAGTCTT	0.353												
OTC	5009	broad.mit.edu	37	X	38260580	38260580	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:38260580G>A	uc004def.4	+	4	653	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	147					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TAAACAATCAGATTTGGACAC	0.408												
MAGED1	9500	broad.mit.edu	37	X	51640084	51640084	+	Missense_Mutation	SNP	T	T	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:51640084T>A	uc004dpn.3	+	4	1691	c.1501T>A	c.(1501-1503)Tcg>Acg	p.S501T	MAGED1_uc004dpm.3_Missense_Mutation_p.S445T|MAGED1_uc004dpo.3_Missense_Mutation_p.S445T	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	445	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.S501S(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTGCGCCCCTCGCCTAACCT	0.602										Multiple Myeloma(10;0.10)		
CDX4	1046	broad.mit.edu	37	X	72667161	72667161	+	Silent	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:72667161C>T	uc011mqk.2	+	0	72	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	24						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTGGGGGCGACGGCACAGCTG	0.612												
PCDH19	57526	broad.mit.edu	37	X	99662512	99662512	+	Missense_Mutation	SNP	C	C	T			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:99662512C>T	uc010nmz.3	-	0	2760	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T	PCDH19_uc004efw.4_Missense_Mutation_p.A362T|PCDH19_uc004efx.4_Missense_Mutation_p.A362T	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	362	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCCGGGGGGGCGCTCTCGCTG	0.607												
DDX26B	203522	broad.mit.edu	37	X	134681139	134681139	+	Missense_Mutation	SNP	G	G	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:134681139G>A	uc004eyw.4	+	5	1054	c.691G>A	c.(691-693)Gta>Ata	p.V231I		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	231										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTGGTGTAGTTATTAA	0.338												
CSAG1	158511	broad.mit.edu	37	X	151908921	151908921	+	Missense_Mutation	SNP	C	C	A			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:151908921C>A	uc004fge.3	+	3	488	c.160C>A	c.(160-162)Cca>Aca	p.P54T	CSAG1_uc004fgf.3_Missense_Mutation_p.P54T|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	54										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATCAACACCAAAGAGGCG	0.557												
G6PD	2539	broad.mit.edu	37	X	153760436	153760436	+	Missense_Mutation	SNP	T	T	C			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:153760436T>C	uc004fly.1	-	11	1537	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	G6PD_uc004flx.1_Missense_Mutation_p.E505G	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	475					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGGCTTCTCCAGCTCAAT	0.627