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
EPHA10	284656	broad.mit.edu	37	1	38227382	38227382	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:38227382G>A	uc009vvi.3	-	2	631	c.545C>T	c.(544-546)cCg>cTg	p.P182L	EPHA10_uc001cbw.4_Missense_Mutation_p.P182L	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	182						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.P182P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGGCTGAGCGGTCCGATCTC	0.657												
SLC2A1	6513	broad.mit.edu	37	1	43396302	43396302	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:43396302C>T	uc001cik.2	-	3	1036	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	171					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTTACCTGGGCGATGAGGATG	0.642												
KLF17	128209	broad.mit.edu	37	1	44595024	44595024	+	Splice_Site	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:44595024G>A	uc001clp.3	+	2	140	c.82_splice	c.e2-1	p.D28_splice	KLF17_uc009vxf.1_Splice_Site	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	28					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TTTTCCCCAAGGATAACGAGA	0.483												
EPHX4	253152	broad.mit.edu	37	1	92495767	92495767	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:92495767G>A	uc001don.2	+	0	235	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	44						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGAGCCTCGGCAAGGGGCCG	0.677												
NRAS	4893	broad.mit.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	rs11554290		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)		
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413												
NBPF10	100132406	broad.mit.edu	37	1	145367751	145367751	+	Silent	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:145367751A>T	uc021oul.1	+	82	10382	c.10347A>T	c.(10345-10347)ggA>ggT	p.G3449G	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3449										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		aaagaaggggaagaagatcaa	0.413												
OR6K2	81448	broad.mit.edu	37	1	158669760	158669760	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:158669760C>T	uc001fsu.1	-	0	683	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGAATGAATACGTAGAATTAC	0.453												
GPR161	23432	broad.mit.edu	37	1	168066138	168066138	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:168066138C>G	uc010pln.2	-	3	1301	c.767G>C	c.(766-768)aGg>aCg	p.R256T	GPR161_uc001gfb.3_Missense_Mutation_p.R104T|GPR161_uc001gfc.3_Missense_Mutation_p.R236T|GPR161_uc010pll.2_Missense_Mutation_p.R146T|GPR161_uc010plm.2_Missense_Mutation_p.R122T|GPR161_uc009wvo.3_Missense_Mutation_p.R253T|GPR161_uc001gfd.3_Missense_Mutation_p.R236T|GPR161_uc001gfe.1_Missense_Mutation_p.R236T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	236					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCTCCCGGTCCTCTGAGCATC	0.597												
CR2	1380	broad.mit.edu	37	1	207644110	207644110	+	Silent	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:207644110C>A	uc001hfw.3	+	6	1370	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L	CR2_uc001hfv.3_Silent_p.L417L|CR2_uc009xch.3_Silent_p.L417L|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	417	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAACATCCTCAATGGGCAAA	0.418												
LYST	1130	broad.mit.edu	37	1	235866229	235866229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:235866229G>A	uc001hxj.2	-	44	10367	c.10192C>T	c.(10192-10194)Cga>Tga	p.R3398*	LYST_uc001hxi.2_Nonsense_Mutation_p.R622*	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3398	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTAGCGCTCGTCTCTGAACT	0.453												
RYR2	6262	broad.mit.edu	37	1	237777418	237777418	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237777418G>A	uc001hyl.1	+	36	5110	c.4990G>A	c.(4990-4992)Gtc>Atc	p.V1664I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1664	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1662L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACTCAGCCGTCTGTGCTCT	0.517												
RYR2	6262	broad.mit.edu	37	1	237995876	237995876	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237995876C>G	uc001hyl.1	+	104	14953	c.14833C>G	c.(14833-14835)Caa>Gaa	p.Q4945E	RYR2_uc010pyb.1_3'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4945					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4945S(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGATGTATCAAGAAAGGTG	0.383												
CUBN	8029	broad.mit.edu	37	10	17146591	17146591	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:17146591C>T	uc001ioo.3	-	11	1296	c.1244G>A	c.(1243-1245)gGt>gAt	p.G415D		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	415	EGF-like 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G415G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAAAATAACCAGAGACAGT	0.373												
TMEM26	219623	broad.mit.edu	37	10	63170497	63170497	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:63170497G>T	uc001jlo.2	-	5	1059	c.690C>A	c.(688-690)aaC>aaA	p.N230K	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	230						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGCACACAACGTTCTGTACTG	0.473												
PTEN	5728	broad.mit.edu	37	10	89725042	89725042	+	Splice_Site	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:89725042A>G	uc001kfb.3	+	9	2059	c.1027_splice	c.e9-2	p.V343_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	343	C2 tensin-type.		V -> E (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(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)		TTCTTTCTCTAGGTGAAGCTG	0.333		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)		
CHRNA10	57053	broad.mit.edu	37	11	3687643	3687643	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:3687643G>A	uc001lyf.3	-	4	1119	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	CHRNA10_uc010qxt.2_Silent_p.C143C|CHRNA10_uc010qxu.2_Silent_p.C143C	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	349					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TTTCCCGCACGCACAGGCCCC	0.667												
OR52I2	143502	broad.mit.edu	37	11	4608268	4608268	+	Missense_Mutation	SNP	G	G	A	rs138555035		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4608268G>A	uc010qyh.2	+	0	248	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCATCATCGTGACTGCAAT	0.507												
OR52I1	390037	broad.mit.edu	37	11	4615416	4615416	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4615416G>A	uc010qyi.2	+	0	148	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCTCATCGTGACTGCAAT	0.517												
OR52H1	390067	broad.mit.edu	37	11	5566723	5566723	+	Missense_Mutation	SNP	T	T	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5566723T>G	uc010qzh.2	-	0	31	c.31A>C	c.(31-33)Aac>Cac	p.N11H	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTCAGGTTGAAAATGATC	0.443												
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5626645	5626645	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5626645C>T	uc001mbf.3	+	3	945	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.R174W|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.R200W|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.R228W|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.R25W	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	228						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGTGGAGCAACGGGAGCTGAA	0.488											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5631406	5631406	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5631406G>A	uc001mbf.3	+	5	1152	c.889G>A	c.(889-891)Gct>Act	p.A297T	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.A243T|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.A269T|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.A297T|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.A94T	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	297						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GAAGCCAGAAGCTCTCCCTAC	0.517												
MTNR1B	4544	broad.mit.edu	37	11	92714701	92714701	+	Silent	SNP	C	C	T	rs139515067		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:92714701C>T	uc001pdk.1	+	1	415	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	104					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.D104D(4)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCTTCTATGACGGCTGGGCCC	0.567												
OR8A1	390275	broad.mit.edu	37	11	124440668	124440668	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:124440668C>A	uc010san.2	+	0	704	c.704C>A	c.(703-705)aCc>aAc	p.T235N		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	235					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)		GTTTCTTACACCTTCATTCTC	0.493												
DDX12P	440081	broad.mit.edu	37	12	9574020	9574020	+	Silent	SNP	T	T	C	rs149364690	by1000genomes	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:9574020T>C	uc021qut.1	-	10		c.1378A>G			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.									p.L672L(1)									ACGTGAATTCTAGCGGCTGGT	0.597												
PLEKHA5	54477	broad.mit.edu	37	12	19436597	19436597	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:19436597G>A	uc001reb.3	+	10	1787	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	PLEKHA5_uc010sie.2_Missense_Mutation_p.R566Q|PLEKHA5_uc001rea.3_Missense_Mutation_p.R560Q|PLEKHA5_uc009zin.3_Missense_Mutation_p.R318Q|PLEKHA5_uc010sig.2_Missense_Mutation_p.R452Q|PLEKHA5_uc010sih.1_Missense_Mutation_p.R452Q|PLEKHA5_uc021qvy.1_Missense_Mutation_p.R452Q|PLEKHA5_uc001rec.1_Missense_Mutation_p.R248Q	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	560							1-phosphatidylinositol binding|protein binding	p.Q559K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCCCTCAACGAACTTACAGA	0.468												
ZFC3H1	196441	broad.mit.edu	37	12	72030416	72030416	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:72030416C>G	uc001swo.2	-	8	2313	c.1954G>C	c.(1954-1956)Gac>Cac	p.D652H		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	652					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGGTGGGTCACTATTACTG	0.363												
C12orf50	160419	broad.mit.edu	37	12	88388465	88388466	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:88388465_88388466delTA	uc001tam.1	-	6	704_705	c.536_537delTA	c.(535-537)atafs	p.I179fs	C12orf50_uc001tan.3_Frame_Shift_Del_p.I233fs	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	179										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGATGTTTTTATTTCACCTTG	0.347												
CCDC60	160777	broad.mit.edu	37	12	119966451	119966451	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:119966451C>T	uc001txe.3	+	11	1726	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	421										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAGAAGTTCCGTGCTTTTGT	0.428												
GCN1L1	10985	broad.mit.edu	37	12	120599767	120599767	+	Silent	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:120599767A>T	uc001txo.3	-	20	2272	c.2259T>A	c.(2257-2259)ccT>ccA	p.P753P		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	753					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGCAGTGCAGGGTTCTGCA	0.592												
TUBA3C	7278	broad.mit.edu	37	13	19751200	19751200	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:19751200C>T	uc009zzj.3	-	3	1028	c.923G>A	c.(922-924)cGc>cAc	p.R308H		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	308					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTGCCGTGGCGAGGGTCACA	0.587												
KLHL1	57626	broad.mit.edu	37	13	70681808	70681808	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:70681808G>T	uc001vip.3	-	0	818	c.24C>A	c.(22-24)gaC>gaA	p.D8E	KLHL1_uc010thm.2_Missense_Mutation_p.D8E|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	8					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCACATCGAAGTCTTTTCGCC	0.632												
CLN5	1203	broad.mit.edu	37	13	77570066	77570066	+	Silent	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:77570066A>G	uc001vkc.3	+	2	544	c.516A>G	c.(514-516)agA>agG	p.R172R		NM_006493	NP_006484	O75503	CLN5_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.	123					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGATTCAGAAGTACATTAA	0.413												
SUPT16H	11198	broad.mit.edu	37	14	21822688	21822688	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:21822688A>G	uc001wao.2	-	22	3011	c.2672T>C	c.(2671-2673)cTg>cCg	p.L891P	SUPT16H_uc001wan.2_Missense_Mutation_p.L35P	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	891					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGTATTTCAGGTCGCAGGA	0.403												
SIPA1L1	26037	broad.mit.edu	37	14	72055814	72055814	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:72055814G>A	uc001xms.3	+	1	1586	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	SIPA1L1_uc001xmt.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E409K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	409					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TAAAAGCAATGAGCTTGTAAT	0.458												
VRTN	55237	broad.mit.edu	37	14	74823988	74823988	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:74823988A>G	uc021rwl.1	+	0	502	c.502A>G	c.(502-504)Agc>Ggc	p.S168G	VRTN_uc001xpw.4_Missense_Mutation_p.S168G	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	168					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CTGTTTCCCCAGCAGCTTCTC	0.597												
CALM1	801	broad.mit.edu	37	14	90870850	90870850	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:90870850A>G	uc001xyl.2	+	4	661	c.413A>G	c.(412-414)aAc>aGc	p.N138S	CALM1_uc010atq.2_Missense_Mutation_p.N139S|CALM1_uc001xym.2_Missense_Mutation_p.N102S	NM_006888	NP_005175	P62158	CALM_HUMAN	Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), transcript variant 1, mRNA.	138	EF-hand 4.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GGACAAGTCAACTATGAAGGT	0.383												
PPP4R4	57718	broad.mit.edu	37	14	94700063	94700063	+	Nonsense_Mutation	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94700063T>A	uc001ycs.1	+	5	744	c.590T>A	c.(589-591)tTa>tAa	p.L197*		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	197						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTAAAATTTTAGGAAAATTG	0.308												
SERPINA11	256394	broad.mit.edu	37	14	94909543	94909543	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94909543G>A	uc001ydd.1	-	3	997	c.937C>T	c.(937-939)Cca>Tca	p.P313S		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	313					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAAAACCTTGGCAAGTGCAAA	0.458												
JAG2	3714	broad.mit.edu	37	14	105612833	105612833	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105612833G>A	uc001yqg.3	-	21	3002	c.2598C>T	c.(2596-2598)atC>atT	p.I866I	JAG2_uc001yqf.3_Silent_p.I270I|JAG2_uc001yqh.3_Silent_p.I828I	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	866					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCCGAACCCGATCACTGTGG	0.682												
JAG2	3714	broad.mit.edu	37	14	105618019	105618019	+	Missense_Mutation	SNP	G	G	A	rs140813175		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105618019G>A	uc001yqg.3	-	7	1501	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Missense_Mutation_p.P366L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	366	EGF-like 4.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAAGCCGGACGGCACCTCATG	0.667												
SLC27A2	11001	broad.mit.edu	37	15	50494831	50494831	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:50494831G>A	uc001zxw.3	+	2	1068	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Missense_Mutation_p.C44Y	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	279					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATTCACGGATGTATTGTGGCT	0.428												
BLM	641	broad.mit.edu	37	15	91312761	91312761	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:91312761A>T	uc002bpr.3	+	11	2597	c.2500A>T	c.(2500-2502)Aat>Tat	p.N834Y	BLM_uc010uqh.2_Missense_Mutation_p.N834Y|BLM_uc010uqi.2_Missense_Mutation_p.N459Y|BLM_uc010bnx.3_Missense_Mutation_p.N834Y	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	834	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GGCCACAGCTAATCCCAGGGT	0.478			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome			
CDH16	1014	broad.mit.edu	37	16	66950022	66950022	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:66950022G>T	uc002eql.3	-	4	564	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	CDH16_uc010cdy.3_Missense_Mutation_p.P124T|CDH16_uc021tjx.1_Missense_Mutation_p.P124T|CDH16_uc002eqm.3_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GAGAAATGGGGCACCTGGTCA	0.582												
PHLPP2	23035	broad.mit.edu	37	16	71724459	71724459	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:71724459G>C	uc002fax.3	-	2	578	c.572C>G	c.(571-573)aCt>aGt	p.T191S	PHLPP2_uc010cgf.3_Missense_Mutation_p.T191S|PHLPP2_uc002fay.1_Missense_Mutation_p.T191S|TRNA_Gln_uc021tkw.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	191	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATCTTTCCAGTTTGACAATC	0.408												
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	Silent	SNP	G	G	A	rs13337896	by1000genomes	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:90161578G>A	uc002fqq.3	+	3	504	c.504G>A	c.(502-504)acG>acA	p.T168T	BC139719_uc002fqp.3_Silent_p.T151T					Homo sapiens, Similar to tubulin, beta, 2, clone IMAGE:4873024, mRNA.									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587												
MYH3	4621	broad.mit.edu	37	17	10533648	10533648	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:10533648G>A	uc002gmq.2	-	36	5502	c.5414C>T	c.(5413-5415)gCg>gTg	p.A1805V		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1805					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCCCTTCAGCGCCAGCTGCTC	0.607												
UBB	7314	broad.mit.edu	37	17	16285788	16285788	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:16285788C>T	uc002gpx.3	+	1	705	c.567C>T	c.(565-567)ccC>ccT	p.P189P	UBB_uc010vwe.1_Silent_p.P113P|UBB_uc021tqs.1_Silent_p.P189P	NM_018955	NP_061828	P0CG47	UBB_HUMAN	Homo sapiens ubiquitin B (UBB), mRNA.	189	Ubiquitin-like 3.				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|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.P189P(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCCCCCGACCAGC	0.552												
ANKRD13B	124930	broad.mit.edu	37	17	27939203	27939203	+	Silent	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:27939203T>A	uc002hei.3	+	10	1283	c.1170T>A	c.(1168-1170)atT>atA	p.I390I	ANKRD13B_uc002heh.3_Silent_p.I258I|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	390										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCCCCATCATTGACCTCATGG	0.597												
MEP1B	4225	broad.mit.edu	37	18	29787380	29787380	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:29787380G>A	uc002kxj.4	+	7	760	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	238	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCGGCCAACGAATGGATTTC	0.388												
CBLN2	147381	broad.mit.edu	37	18	70209243	70209243	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:70209243C>T	uc002lku.2	-	1	388	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CBLN2_uc002lkv.2_Silent_p.A51A	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	51						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGTCGTTCTGCGCCCGCACGG	0.741												
C19orf21	126353	broad.mit.edu	37	19	758162	758162	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:758162C>T	uc002lpo.3	+	1	1299	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	406										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGATGCCCGTGCGGCCGA	0.682												
GADD45B	4616	broad.mit.edu	37	19	2477591	2477591	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:2477591G>C	uc002lwb.2	+	3	709	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q		NM_015675	NP_056490	O75293	GA45B_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA.	159					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTCTTCAGGAACGCTGAGG	0.562												
CPAMD8	27151	broad.mit.edu	37	19	17086956	17086956	+	Silent	SNP	T	T	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17086956T>C	uc002nfb.3	-	15	1937	c.1905A>G	c.(1903-1905)tcA>tcG	p.S635S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	588						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AATACGTCACTGAAACCTTGG	0.557												
B3GNT3	10331	broad.mit.edu	37	19	17918748	17918748	+	Silent	SNP	C	C	T	rs79614823	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17918748C>T	uc002nhl.1	+	1	279	c.132C>T	c.(130-132)ccC>ccT	p.P44P	B3GNT3_uc010ebd.1_Silent_p.P44P|B3GNT3_uc010ebe.1_Silent_p.P44P	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	44					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGGCGATCCCCGAGGCCCTGG	0.687												
ZNF493	284443	broad.mit.edu	37	19	21606457	21606457	+	Silent	SNP	T	T	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:21606457T>C	uc002npw.3	+	3	1115	c.996T>C	c.(994-996)atT>atC	p.I332I	ZNF493_uc002npx.3_Silent_p.I204I|ZNF493_uc002npy.3_Silent_p.I204I|ZNF493_uc021urq.1_Silent_p.I204I	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCTTTAGTATTTTCTCAACCC	0.348												
ZNF208	7757	broad.mit.edu	37	19	22155346	22155346	+	Silent	SNP	T	T	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:22155346T>C	uc021urr.1	-	3	2639	c.2490A>G	c.(2488-2490)gaA>gaG	p.E830E	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGTAGGGCTTTTCTCCAGCAT	0.373												
LSR	51599	broad.mit.edu	37	19	35757850	35757850	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:35757850C>T	uc002nyl.3	+	7	1491	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	LSR_uc010xsr.2_Missense_Mutation_p.P315L|LSR_uc002nym.3_Missense_Mutation_p.P404L|LSR_uc002nyn.3_Missense_Mutation_p.P355L|LSR_uc002nyo.3_Missense_Mutation_p.P403L|LSR_uc002nyp.3_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	423					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGCCCCCCCAGTGGCCGT	0.622												
CEACAM18	729767	broad.mit.edu	37	19	51986389	51986389	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:51986389G>A	uc002pwv.1	+	4	975	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	325	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGATCTCAAGTACCACTGGA	0.512												
ZNF534	147658	broad.mit.edu	37	19	52942423	52942423	+	Missense_Mutation	SNP	T	T	A	rs112113280		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:52942423T>A	uc002pzk.3	+	3	1816	c.1749T>A	c.(1747-1749)aaT>aaA	p.N583K	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.N570K	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N583K(2)		central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GACATAGGAATATTCATACTG	0.438												
ZNF845	91664	broad.mit.edu	37	19	53855879	53855879	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:53855879C>G	uc010ydv.1	+	3	2068	c.1951C>G	c.(1951-1953)Caa>Gaa	p.Q651E	ZNF845_uc010ydw.1_Missense_Mutation_p.Q651E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q651E(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAACCTTCAAAGACATAG	0.398												
ZSCAN5B	342933	broad.mit.edu	37	19	56704064	56704064	+	Nonsense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:56704064G>A	uc010ygh.2	-	0	358	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	120	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGTTATTTCGTAGCAGGTCC	0.537												
GRHL1	29841	broad.mit.edu	37	2	10102621	10102621	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:10102621G>A	uc002raa.3	+	4	878	c.707G>A	c.(706-708)gGc>gAc	p.G236D	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Intron|GRHL1_uc010yjb.2_Missense_Mutation_p.G85D	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	236					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGGATGCCTGGCATGAATTCA	0.358												
CCDC85A	114800	broad.mit.edu	37	2	56420095	56420095	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:56420095G>A	uc002rzn.3	+	1	1262	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	254	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCACAGGAGCGCCAGCCCCGA	0.657												
SULT1C3	442038	broad.mit.edu	37	2	108872031	108872031	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:108872031G>T	uc010ywo.2	+	3	403	c.403G>T	c.(403-405)Gtc>Ttc	p.V135F		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	135						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATTTCAGATTGTCTATGTGGC	0.413												
SLC4A10	57282	broad.mit.edu	37	2	162813661	162813661	+	Nonsense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:162813661A>T	uc002ubx.4	+	19	2888	c.2704A>T	c.(2704-2706)Aaa>Taa	p.K902*	SLC4A10_uc010zcs.2_Nonsense_Mutation_p.K883*|SLC4A10_uc002uby.4_Nonsense_Mutation_p.K872*	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	902					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.K901K(1)		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						AGAACAACCCAAATTTCTCGG	0.448												
SCN9A	6335	broad.mit.edu	37	2	167141278	167141278	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:167141278A>T	uc010fpl.3	-	11	2000	c.1659T>A	c.(1657-1659)agT>agA	p.S553R	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S424R|SCN9A_uc002uds.1_Missense_Mutation_p.S424R|SCN9A_uc002udt.1_Missense_Mutation_p.S424R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	553						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACTAAAAAGACTTGTTCTGC	0.443												
TTN	7273	broad.mit.edu	37	2	179456812	179456812	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:179456812T>A	uc021vsy.1	-	250	52340	c.52115A>T	c.(52114-52116)cAt>cTt	p.H17372L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H11067L|TTN_uc021vta.1_Missense_Mutation_p.H11000L|TTN_uc021vtb.1_Missense_Mutation_p.H10875L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18299	Fibronectin type-III 26.						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)			TTCATTCAGATGCTTAGCGAA	0.463												
ACTR5	79913	broad.mit.edu	37	20	37383758	37383758	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:37383758C>T	uc002xjd.2	+	3	959	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	312					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAATGCCCGGCGGCGGGAGGA	0.597												
SALL4	57167	broad.mit.edu	37	20	50400910	50400910	+	Missense_Mutation	SNP	G	G	C			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:50400910G>C	uc002xwh.4	-	3	3157	c.3056C>G	c.(3055-3057)tCc>tGc	p.S1019C	SALL4_uc010gii.3_Missense_Mutation_p.S582C|SALL4_uc002xwi.4_Missense_Mutation_p.S242C	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	1019					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCGACTGGGAGCCATCCAT	0.542												
PRIC285	85441	broad.mit.edu	37	20	62195800	62195800	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:62195800C>T	uc002yfm.2	-	8	5267	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	PRIC285_uc002yfl.1_Missense_Mutation_p.E890K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1459					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCCGCCTCCTCGTAGGACAGC	0.682												
PMM1	5372	broad.mit.edu	37	22	41974860	41974860	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr22:41974860A>G	uc003bal.2	-	5	562	c.500T>C	c.(499-501)gTg>gCg	p.V167A		NM_002676	NP_002667	Q92871	PMM1_HUMAN	Homo sapiens phosphomannomutase 1 (PMM1), mRNA.	167					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	p.F166F(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CAGGGCTTCCACGAACTTCTC	0.617												
SLC4A7	9497	broad.mit.edu	37	3	27431585	27431585	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:27431585C>T	uc011aww.2	-	21	3418	c.3197G>A	c.(3196-3198)cGt>cAt	p.R1066H	SLC4A7_uc011awx.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wun.1_Missense_Mutation_p.R942H|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.R938H|SLC4A7_uc011axb.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.R938H|SLC4A7_uc010hfl.3_Missense_Mutation_p.R607H|SLC4A7_uc003cdv.3_Missense_Mutation_p.R1057H|SLC4A7_uc003cdw.3_Missense_Mutation_p.R933H	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1057						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TAATTTTATACGGTCAAATAA	0.328												
MST1R	4486	broad.mit.edu	37	3	49939965	49939965	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:49939965C>T	uc003cxy.4	-	0	1342	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	MST1R_uc011bdc.2_Missense_Mutation_p.V360M|MST1R_uc011bdd.2_Missense_Mutation_p.V360M|MST1R_uc011bde.1_Missense_Mutation_p.V360M|MST1R_uc011bdf.1_Missense_Mutation_p.V360M|MST1R_uc011bdg.2_Missense_Mutation_p.V360M	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	360	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTGGGGCCCACGCCAGGACCA	0.587												
ITIH1	3697	broad.mit.edu	37	3	52816072	52816072	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:52816072C>T	uc003dfs.3	+	6	834	c.804C>T	c.(802-804)tgC>tgT	p.C268C	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.C126C|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	268					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACAAGATCTGCGACCTCCTGG	0.587												
SORCS2	57537	broad.mit.edu	37	4	7666134	7666134	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:7666134C>T	uc003gkb.4	+	6	1007	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	SORCS2_uc011bwi.2_Missense_Mutation_p.A164V	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	336						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGCTGACAGCCCCATTCGCA	0.557												
GC	2638	broad.mit.edu	37	4	72618353	72618353	+	Missense_Mutation	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:72618353A>G	uc010iif.3	-	11	1429	c.1334T>C	c.(1333-1335)cTa>cCa	p.L445P	GC_uc003hge.3_Missense_Mutation_p.L426P|GC_uc021xpb.1_Missense_Mutation_p.L426P	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	426	Albumin 3.		R -> C (in allele GC*2A9).|R -> H (in allele GC*1A1; dbSNP:rs9016).		hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTTGCTTTTAGTCGCTCTGC	0.388												
FAM190A	401145	broad.mit.edu	37	4	91230163	91230163	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:91230163A>T	uc003hsv.4	+	1	1068	c.728A>T	c.(727-729)cAa>cTa	p.Q243L	FAM190A_uc003hsu.3_Missense_Mutation_p.Q243L|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.Q243L	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	243										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AGCTCTTTACAATCTCCTTTG	0.418												
C4orf21	55345	broad.mit.edu	37	4	113481967	113481967	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:113481967G>T	uc003iau.3	-	18	5093	c.4882C>A	c.(4882-4884)Caa>Aaa	p.Q1628K	C4orf21_uc003iav.3_Non-coding_Transcript|C4orf21_uc003iat.3_Missense_Mutation_p.Q86K	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCCATCATTTGAGCTATTTGA	0.378												
ANK2	287	broad.mit.edu	37	4	114251469	114251469	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:114251469C>G	uc003ibe.4	+	26	3068	c.2968C>G	c.(2968-2970)Cga>Gga	p.R990G	ANK2_uc003ibd.4_Missense_Mutation_p.R981G|ANK2_uc003ibf.4_Missense_Mutation_p.R990G|ANK2_uc011cgc.2_Missense_Mutation_p.R199G|ANK2_uc003ibg.4_Missense_Mutation_p.R18G|ANK2_uc003ibc.2_Missense_Mutation_p.R966G|ANK2_uc011cgb.1_Missense_Mutation_p.R1005G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	990	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATGGGCTCCGAATCATTAT	0.473												
TMA16	55319	broad.mit.edu	37	4	164415798	164415798	+	Translation_Start_Site	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:164415798C>T	uc003iqq.4	+	0						NM_018352	NP_060822	Q96EY4	CD043_HUMAN	Homo sapiens chromosome 4 open reading frame 43 (C4orf43), mRNA.																		TTTAGAGAAACGCACTCGCCT	0.632												
MYO10	4651	broad.mit.edu	37	5	16769271	16769271	+	Silent	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:16769271C>T	uc003jft.4	-	9	1440	c.972G>A	c.(970-972)cgG>cgA	p.R324R	MYO10_uc010itx.3_5'Flank	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	324	Myosin head-like.		R -> W (in dbSNP:rs11750538).		axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGACACTTCCCGAACTTCCT	0.413												
TSSK1B	83942	broad.mit.edu	37	5	112769636	112769636	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:112769636C>T	uc003kqm.2	-	0	1093	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	301					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GAGCCAGGTTCGGGGGTCCAC	0.622												
PCDHGC5	56114	broad.mit.edu	37	5	140711854	140711854	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:140711854C>T	uc003lji.2	+	0	1603	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	PCDHGC5_uc011dan.2_Missense_Mutation_p.R535W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	537	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGATGGCGCGGGACAGTGG	0.602												
FBXO38	81545	broad.mit.edu	37	5	147782003	147782003	+	Silent	SNP	A	A	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:147782003A>G	uc003lpf.1	+	4	639	c.519A>G	c.(517-519)ggA>ggG	p.G173G	FBXO38_uc003lpg.1_Silent_p.G173G|FBXO38_uc003lph.2_Silent_p.G173G	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	173						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGTAATGGAGCTTTTCCAA	0.363												
EXOC2	55770	broad.mit.edu	37	6	619481	619481	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:619481C>T	uc003mtd.3	-	4	619	c.485G>A	c.(484-486)aGt>aAt	p.S162N	EXOC2_uc003mte.3_Missense_Mutation_p.S162N|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	162					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAAATTCTCACTTGTAAAATC	0.378												
HLA-DQA2	3118	broad.mit.edu	37	6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	rs144060347		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:32713607C>T	uc003obx.3	+	2	429	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTGTGACGCTGGGTCAG	0.507												
BRPF3	27154	broad.mit.edu	37	6	36175096	36175096	+	Frame_Shift_Del	DEL	C	C	-			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:36175096delC	uc003olv.4	+	3	1836	c.1612delC	c.(1612-1614)cagfs	p.Q538fs	BRPF3_uc010jwb.3_Frame_Shift_Del_p.Q538fs|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Frame_Shift_Del_p.Q538fs	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	538					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GTAGCGAGAGCAGGATGAGAA	0.547												
BMP5	653	broad.mit.edu	37	6	55620351	55620351	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:55620351G>A	uc003pcq.3	-	6	2057	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	BMP5_uc011dxf.2_Missense_Mutation_p.R412C	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	449					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R449H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCACATGAGCGTACTACCATA	0.328												
MMS22L	253714	broad.mit.edu	37	6	97613246	97613246	+	Nonsense_Mutation	SNP	G	G	A	rs146474162	by1000genomes	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:97613246G>A	uc003ppb.3	-	20	3363	c.3097C>T	c.(3097-3099)Cga>Tga	p.R1033*	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Nonsense_Mutation_p.R993*	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	1033					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGAAGAAATCGCCCAATATAC	0.393												
GRIK2	2898	broad.mit.edu	37	6	102483322	102483322	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:102483322C>G	uc003pqp.4	+	13	2485	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	GRIK2_uc010kcw.3_Missense_Mutation_p.S731C|GRIK2_uc003pqo.4_Missense_Mutation_p.S731C|GRIK2_uc021zdk.1_Missense_Mutation_p.S544C|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	731					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTCCTCACCTCTGATTATGCT	0.443												
PCLO	27445	broad.mit.edu	37	7	82508670	82508670	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr7:82508670G>A	uc003uhx.2	-	9	13926	c.13637C>T	c.(13636-13638)aCg>aTg	p.T4546M	PCLO_uc003uhv.2_Missense_Mutation_p.T4546M|PCLO_uc003uht.1_5'UTR|PCLO_uc003uhu.1_5'UTR	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T4546M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGCTTCCCCGTCTGTTCCGC	0.358												
CSMD1	64478	broad.mit.edu	37	8	4277522	4277522	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:4277522G>A	uc022aqr.1	-	2	758	c.368C>T	c.(367-369)aCg>aTg	p.T123M		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	123	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGTCTGTCGTGAACCACAG	0.403												
ADAM7	8756	broad.mit.edu	37	8	24357714	24357714	+	Nonsense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:24357714C>A	uc003xeb.3	+	17	2060	c.1947C>A	c.(1945-1947)tgC>tgA	p.C649*	ADAM7_uc003xec.3_Nonsense_Mutation_p.C421*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	649	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		gaCTCCAGTGCCACTGTGAGG	0.433												
LOC728024	728024	broad.mit.edu	37	8	37605006	37605006	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:37605006C>T	uc010lvx.2	-	0	559	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	ERLIN2_uc003xke.4_Intron					Homo sapiens chromosome X open reading frame 56 pseudogene (LOC728024), non-coding RNA.																		TCAGCAACTTCCCTAGCCTCA	0.483												
XKR9	389668	broad.mit.edu	37	8	71646034	71646034	+	Missense_Mutation	SNP	C	C	T	rs140711820		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:71646034C>T	uc003xyq.3	+	4	1031	c.497C>T	c.(496-498)gCg>gTg	p.A166V	XKR9_uc010lzd.3_Missense_Mutation_p.A34V|XKR9_uc010lze.3_Missense_Mutation_p.A166V	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	166						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTTGTAGATGCGGCCATCATG	0.308												
GLIS3	169792	broad.mit.edu	37	9	4117963	4117963	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:4117963G>A	uc003zhx.1	-	3	2228	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	GLIS3_uc003zic.1_Silent_p.I505I|GLIS3_uc003zie.1_Silent_p.I505I|GLIS3_uc010mhh.1_Silent_p.I380I|GLIS3_uc003zid.1_Silent_p.I283I|GLIS3_uc010mhi.1_Silent_p.I312I|GLIS3_uc003zif.1_Silent_p.I283I|GLIS3_uc003zih.1_Silent_p.I283I|GLIS3_uc003zig.1_Silent_p.I349I|GLIS3_uc003zhw.1_Silent_p.I350I|GLIS3_uc003zhy.1_Silent_p.I283I|GLIS3_uc003zhz.1_Silent_p.I283I|GLIS3_uc003zib.1_Silent_p.I349I|GLIS3_uc010mhg.1_Silent_p.I283I	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	350					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGCTGCAGTCGATCCAGCGGC	0.667												
TESK1	7016	broad.mit.edu	37	9	35609198	35609198	+	Missense_Mutation	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:35609198G>A	uc003zxa.3	+	9	1676	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	TESK1_uc010mks.3_Missense_Mutation_p.R287H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	447					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCCCCGCCGTATGGAGACA	0.687												
FBP2	8789	broad.mit.edu	37	9	97333806	97333806	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:97333806C>T	uc004auv.3	-	3	572	c.505G>A	c.(505-507)Ggt>Agt	p.G169S		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	169					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GTTGCACTACCGTACAGCGCA	0.552												
USP20	10868	broad.mit.edu	37	9	132638480	132638480	+	Missense_Mutation	SNP	C	C	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:132638480C>T	uc004bys.2	+	21	2583	c.2372C>T	c.(2371-2373)gCc>gTc	p.A791V	USP20_uc004byr.2_Missense_Mutation_p.A791V|USP20_uc004byt.1_Missense_Mutation_p.A791V	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	791	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGGCACTGGCCAAGCGCAGG	0.677												
DMD	1756	broad.mit.edu	37	X	31165414	31165414	+	Missense_Mutation	SNP	C	C	G			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:31165414C>G	uc004dda.1	-	74	11019	c.10775G>C	c.(10774-10776)aGg>aCg	p.R3592T	DMD_uc004dcq.1_Missense_Mutation_p.R863T|DMD_uc004dcr.1_Missense_Mutation_p.R1022T|DMD_uc004dcs.1_Missense_Mutation_p.R1022T|DMD_uc004dct.1_Missense_Mutation_p.R1132T|DMD_uc004dcu.1_Missense_Mutation_p.R1132T|DMD_uc004dcv.1_Missense_Mutation_p.R1119T|DMD_uc004dcw.2_Missense_Mutation_p.R2248T|DMD_uc004dcx.2_Missense_Mutation_p.R2251T|DMD_uc004dcz.2_Missense_Mutation_p.R3469T|DMD_uc004dcy.1_Missense_Mutation_p.R3588T|DMD_uc004ddb.1_Missense_Mutation_p.R3584T|DMD_uc004dcp.1_Missense_Mutation_p.R511T|DMD_uc011mkb.1_Missense_Mutation_p.R414T|DMD_uc004dcm.1_Missense_Mutation_p.R524T|DMD_uc004dcn.1_Missense_Mutation_p.R511T|DMD_uc004dco.1_Missense_Mutation_p.R524T	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3592					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)				CTGCCTTAGCCTGTGTAACTG	0.458												
MAGEB16	139604	broad.mit.edu	37	X	35820765	35820765	+	Missense_Mutation	SNP	T	T	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:35820765T>A	uc010ngt.1	+	1	731	c.452T>A	c.(451-453)tTc>tAc	p.F151Y	MAGEB16_uc022bus.1_Missense_Mutation_p.F151Y	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	151	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGAGCCACTTCTCTGAGATC	0.448												
TGIF2LX	90316	broad.mit.edu	37	X	89177576	89177576	+	Silent	SNP	G	G	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:89177576G>A	uc022bzr.1	+	0	492	c.492G>A	c.(490-492)aaG>aaA	p.K164K	TGIF2LX_uc004efe.3_Silent_p.K164K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	164						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCTTGCCAAAGGGCCAGATGT	0.592												
DIAPH2	1730	broad.mit.edu	37	X	96212894	96212894	+	Missense_Mutation	SNP	G	G	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:96212894G>T	uc004efu.4	+	15	2078	c.1682G>T	c.(1681-1683)gGg>gTg	p.G561V	DIAPH2_uc004eft.4_Missense_Mutation_p.G561V	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	561	FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CCAGGTGTAGGGCCGCCTCCA	0.537												
MAGEC2	51438	broad.mit.edu	37	X	141291061	141291061	+	Missense_Mutation	SNP	A	A	T			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:141291061A>T	uc022cfj.1	-	0	713	c.713T>A	c.(712-714)tTc>tAc	p.F238Y	MAGEC2_uc004fbu.2_Missense_Mutation_p.F238Y	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	238	MAGE.					cytoplasm|nucleus		p.I237T(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTTATGAAGATCACACT	0.512										HNSCC(46;0.14)		
MAGEA12	4111	broad.mit.edu	37	X	151900207	151900207	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:151900207C>A	uc022chj.1	-	0	594	c.594G>T	c.(592-594)aaG>aaT	p.K198N	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.K198N|MAGEA12_uc022chi.1_Missense_Mutation_p.K198N|MAGEA12_uc004fgc.3_Missense_Mutation_p.K198N	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	198	MAGE.							p.K198*(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCCTGTCTTGGGCACGA	0.577												
SPRY3	10251	broad.mit.edu	37	X	155003952	155003952	+	Missense_Mutation	SNP	C	C	A			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:155003952C>A	uc022cio.1	+	0	419	c.419C>A	c.(418-420)cCt>cAt	p.P140H	SPRY3_uc004fnq.1_Missense_Mutation_p.P140H	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	140					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCAGGGCACCCTAGTGAGCAC	0.612												
