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
CPSF3L	54973	broad.mit.edu	37	1	1256376	1256376	+	Silent	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:1256376G>A	uc001aef.1	-	4	657	c.144_splice	c.e4+1	p.D48_splice	CPSF3L_uc001aee.1_Splice_Site_p.D42_splice|CPSF3L_uc009vjz.1_Splice_Site_p.D42_splice|CPSF3L_uc010nyj.1_Splice_Site_p.D13_splice|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Splice_Site_p.D42_splice|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001ael.2_5'UTR|CPSF3L_uc001aen.1_Silent_p.D42D			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	42						Golgi apparatus|nucleus	hydrolase activity	p.D42E(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGGGACTCACGTCGTCATTGA	0.647												
NPHP4	261734	broad.mit.edu	37	1	5937354	5937354	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:5937354T>C	uc001alq.2	-	19	2884	c.2616A>G	c.(2614-2616)aaA>aaG	p.K872K	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	872					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCACGTGTTTTCCTGCGA	0.632												
MACF1	23499	broad.mit.edu	37	1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:39833905C>T	uc021olw.1	+	13	8177	c.8177C>T	c.(8176-8178)gCg>gTg	p.A2726V	MACF1_uc021ols.1_Missense_Mutation_p.A2224V|MACF1_uc001cdc.2_Missense_Mutation_p.A2224V|MACF1_uc021olt.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4291					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453												
CLCA2	9635	broad.mit.edu	37	1	86916416	86916416	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:86916416G>A	uc001dlr.4	+	12	2317	c.2155_splice	c.e12+1	p.G719_splice		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	719					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CACAGCAAACGGTAAGAACCA	0.453												
EPHX4	253152	broad.mit.edu	37	1	92528664	92528664	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:92528664G>A	uc001don.2	+	6	1014	c.910G>A	c.(910-912)Gga>Aga	p.G304R		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	304						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACTACTGTGGGGAGAGAATGA	0.398												
DPYD	1806	broad.mit.edu	37	1	98293688	98293688	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:98293688G>C	uc001drv.3	-	2	352	c.215C>G	c.(214-216)gCt>gGt	p.A72G	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.A72G	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	72	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTCGGAGAGCTCCTCGCTC	0.393												
FLG	2312	broad.mit.edu	37	1	152280977	152280977	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152280977A>G	uc001ezu.1	-	2	6421	c.6385T>C	c.(6385-6387)Tca>Cca	p.S2129P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2129	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGATGCTGAGTGCCTGGAG	0.572									Ichthyosis			
FLG	2312	broad.mit.edu	37	1	152282616	152282616	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152282616C>T	uc001ezu.1	-	2	4782	c.4746G>A	c.(4744-4746)gcG>gcA	p.A1582A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1582	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGACCCCGCTGATTCTC	0.602									Ichthyosis			
PKP1	5317	broad.mit.edu	37	1	201289494	201289494	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:201289494C>T	uc001gwd.3	+	7	1646	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	PKP1_uc001gwe.3_Silent_p.S444S|PKP1_uc009wzm.3_Silent_p.S52S	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	465					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TAGCGGCCAGCCGCTGTGACG	0.612												
USH2A	7399	broad.mit.edu	37	1	216061963	216061963	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:216061963C>T	uc001hku.1	-	40	8415	c.8028G>A	c.(8026-8028)ccG>ccA	p.P2676P		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2676	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L2675V(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AATGACTCCTCGGGAGAGTCA	0.468										HNSCC(13;0.011)		
MAP3K11	4296	broad.mit.edu	37	11	65367001	65367001	+	Silent	SNP	C	C	A	rs138509783		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr11:65367001C>A	uc001oew.3	-	8	2563	c.2070G>T	c.(2068-2070)ccG>ccT	p.P690P	MAP3K11_uc001oev.3_Silent_p.P106P|MAP3K11_uc010rol.2_Silent_p.P433P|MAP3K11_uc001oex.1_Silent_p.P197P	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	690	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGAAGGGGGCGGCTCGGTCG	0.736												
ANKRD33	341405	broad.mit.edu	37	12	52284680	52284680	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:52284680G>C	uc001rzd.3	+	4	1128	c.950G>C	c.(949-951)aGt>aCt	p.S317T	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S192T|ANKRD33_uc001rze.3_Missense_Mutation_p.S213T|ANKRD33_uc001rzg.4_Missense_Mutation_p.S119T|ANKRD33_uc001rzi.4_Missense_Mutation_p.S192T	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	192										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGCCTGGCCAGTCCCTTCGTC	0.632												
PAN2	9924	broad.mit.edu	37	12	56717611	56717611	+	Missense_Mutation	SNP	A	A	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:56717611A>T	uc001skx.3	-	13	2541	c.2164T>A	c.(2164-2166)Tgt>Agt	p.C722S	PAN2_uc001skw.3_5'UTR|PAN2_uc001sky.3_Missense_Mutation_p.C718S|PAN2_uc001skz.3_Missense_Mutation_p.C721S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	722					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TACTTTTCACAGGTGTCACAC	0.522												
FGD6	55785	broad.mit.edu	37	12	95603097	95603097	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:95603097C>T	uc001tdp.4	-	1	2187	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	655					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGGTGTCTCCGAGTTGGCTA	0.443												
MIPEP	4285	broad.mit.edu	37	13	24330744	24330744	+	Missense_Mutation	SNP	G	G	A	rs148780512	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr13:24330744G>A	uc001uox.4	-	17	2112	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	662					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.R662H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTGCGATAGCGCTCCCCGGCA	0.517												
abParts	0	broad.mit.edu	37	15	22440385	22440385	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:22440385C>A	uc001yuj.2	-											Parts of antibodies, mostly variable regions.																		TTTTGGCATTCTTTTTCCTTT	0.468												
FMN1	342184	broad.mit.edu	37	15	33359642	33359642	+	Silent	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:33359642A>G	uc001zhf.4	-	0	444	c.444T>C	c.(442-444)tcT>tcC	p.S148S	FMN1_uc001zhg.2_Silent_p.S148S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CATCAGAGTCAGAATCACTGG	0.522												
SPATA5L1	79029	broad.mit.edu	37	15	45709546	45709546	+	Silent	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:45709546A>G	uc001zve.3	+	5	2026	c.1917A>G	c.(1915-1917)ttA>ttG	p.L639L	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	639						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGCTTTGTTACGACCTGGAA	0.393												
VPS13C	54832	broad.mit.edu	37	15	62182532	62182532	+	Missense_Mutation	SNP	C	C	T	rs150364963		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:62182532C>T	uc002agz.3	-	66	9264	c.9173G>A	c.(9172-9174)cGc>cAc	p.R3058H	VPS13C_uc002aha.3_Missense_Mutation_p.R3015H|VPS13C_uc002ahb.2_Missense_Mutation_p.R3058H|VPS13C_uc002ahc.2_Missense_Mutation_p.R3015H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3058					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACTCTCTGGCGCCCATCCAG	0.443												
NR2F2	7026	broad.mit.edu	37	15	96877739	96877739	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:96877739C>T	uc010uri.2	+	1	2101	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	NR2F2_uc002btp.3_Missense_Mutation_p.R160W|NR2F2_uc010urj.2_Missense_Mutation_p.R140W|NR2F2_uc010urk.2_Missense_Mutation_p.R140W	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	293	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGACCACATACGGATCTTCCA	0.627												
FOXN1	8456	broad.mit.edu	37	17	26864328	26864328	+	Silent	SNP	A	A	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:26864328A>C	uc010crm.3	+	8	2019	c.1821A>C	c.(1819-1821)gcA>gcC	p.A607A	FOXN1_uc002hbj.3_Silent_p.A607A	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	607					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCTCCGGGGCACTGGGTGACC	0.687												
GJC1	10052	broad.mit.edu	37	17	42882434	42882434	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:42882434A>G	uc002ihj.3	-	1	1263	c.752T>C	c.(751-753)cTt>cCt	p.L251P	GJC1_uc002ihk.3_Missense_Mutation_p.L251P|GJC1_uc002ihl.3_Missense_Mutation_p.L251P|GJC1_uc021tyf.1_Missense_Mutation_p.L251P	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	251					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CCCTAAATGAAGCATCTCCCA	0.413												
MC4R	4160	broad.mit.edu	37	18	58039563	58039563	+	Missense_Mutation	SNP	C	C	T	rs142837166		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr18:58039563C>T	uc002lie.1	-	0	439	c.20G>A	c.(19-21)cGt>cAt	p.R7H		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	7					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GTGCATCCCACGGTGGGTGGA	0.537												
HDGFRP2	84717	broad.mit.edu	37	19	4475292	4475292	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:4475292C>T	uc002mao.3	+	1	186	c.93C>T	c.(91-93)ggC>ggT	p.G31G	HDGFRP2_uc002map.3_Silent_p.G31G|HDGFRP2_uc010dtz.1_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	31	PWWP.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										TCGCGGATGGCGCCGTGAAGC	0.562												
ZNF709	163050	broad.mit.edu	37	19	12638084	12638084	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:12638084G>A	uc002mty.3	-	3	1048	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATTCATGGGGTTTCTCTCCA	0.403												
CEP89	84902	broad.mit.edu	37	19	33406291	33406291	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:33406291C>T	uc002nty.3	-	13	1606	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	CEP89_uc002ntx.3_Missense_Mutation_p.G259D|CEP89_uc010edg.3_Non-coding_Transcript	NM_032816	NP_116205	Q96ST8	CEP89_HUMAN	Homo sapiens centrosomal protein 89kDa (CEP89), mRNA.	506						centrosome|spindle pole				breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	35						TGCGATTTTGCCATCCGAGTG	0.393												
PSG9	5678	broad.mit.edu	37	19	43762524	43762524	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:43762524G>C	uc002owd.4	-	4	1172	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C	PSG9_uc002owe.4_Missense_Mutation_p.S265C|PSG9_uc010xwm.2_Missense_Mutation_p.S265C|PSG9_uc002owf.4_Missense_Mutation_p.S172C|PSG9_uc002owg.2_Missense_Mutation_p.S265C	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	358	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGGTGGGTTAGATTCCGTGAA	0.448												
SYNGR4	23546	broad.mit.edu	37	19	48878966	48878966	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:48878966C>T	uc002piz.3	+	3	679	c.428C>T	c.(427-429)gCc>gTc	p.A143V		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	143	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGCAGCAGTGCCCAGGCAGCC	0.612												
LILRA1	11024	broad.mit.edu	37	19	55106242	55106242	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:55106242T>C	uc002qgh.1	+	3	365	c.183T>C	c.(181-183)taT>taC	p.Y61Y	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.Y61Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	61	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCGTCTGTATAGAGAAAAGA	0.577												
POLR1A	25885	broad.mit.edu	37	2	86272753	86272753	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:86272753C>T	uc002sqs.3	-	19	3252	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	POLR1A_uc010ytb.2_Missense_Mutation_p.G324D|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	958					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGTTTGATGCCGGTGAGGAA	0.512												
PCDP1	200373	broad.mit.edu	37	2	120385285	120385285	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:120385285C>T	uc002tmb.3	+	16	1827	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	PCDP1_uc010yyq.2_Missense_Mutation_p.R369W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	525						cilium	calmodulin binding					Colorectal(110;0.196)					TTATACCAGCCGGTTCTCTGT	0.537												
ZNF142	7701	broad.mit.edu	37	2	219503257	219503257	+	Silent	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:219503257G>A	uc002vin.3	-	9	5305	c.4869C>T	c.(4867-4869)tgC>tgT	p.C1623C	ZNF142_uc002vil.3_Silent_p.C1584C|ZNF142_uc010fvt.3_Silent_p.C1460C|ZNF142_uc002vim.3_Silent_p.C1460C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCAGAGGCGGCAAAAGAAGG	0.607												
ISM1	140862	broad.mit.edu	37	20	13279761	13279761	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:13279761C>T	uc010gce.1	+	5	1056	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	350	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCTGGAAGGACGCCAGCGGGC	0.647												
ZBTB46	140685	broad.mit.edu	37	20	62421878	62421878	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:62421878A>C	uc002ygv.2	-	1	434	c.233T>G	c.(232-234)gTc>gGc	p.V78G	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	78	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGGGCCGTGACGATGTCCAG	0.612												
SCN11A	11280	broad.mit.edu	37	3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:38892224C>T	uc021wvy.1	-	24	4274	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_uc003cis.1_Missense_Mutation_p.V24M	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1359					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTCGAACACGAGACCTTGA	0.308												
GPR128	84873	broad.mit.edu	37	3	100349573	100349573	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:100349573A>G	uc003duc.3	+	2	522	c.254A>G	c.(253-255)tAt>tGt	p.Y85C		NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	85					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAGTACCTATATGGGTTTT	0.323												
EPHB1	2047	broad.mit.edu	37	3	134898744	134898744	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:134898744A>G	uc003eqt.3	+	9	2177	c.1802A>G	c.(1801-1803)gAg>gGg	p.E601G	EPHB1_uc003equ.3_Missense_Mutation_p.E162G	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	601						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCACTTACGAGGATCCCAAC	0.483												
CORIN	10699	broad.mit.edu	37	4	47679958	47679958	+	Missense_Mutation	SNP	C	C	T	rs149563697	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:47679958C>T	uc003gxm.3	-	8	1339	c.1246G>A	c.(1246-1248)Gtc>Atc	p.V416I	CORIN_uc011bzf.2_Missense_Mutation_p.V277I|CORIN_uc011bzg.2_Missense_Mutation_p.V349I|CORIN_uc011bzh.1_Missense_Mutation_p.V379I|CORIN_uc011bzi.1_Missense_Mutation_p.V379I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	416					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACTTACTGACGCTGCAGTTC	0.493												
UGT2B15	7366	broad.mit.edu	37	4	69536075	69536075	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:69536075C>A	uc021xow.1	-	0	420	c.262G>T	c.(262-264)Gat>Tat	p.D88Y		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	88					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGAAGAGAATCTTCCAAATAA	0.294												
UGT2B10	7365	broad.mit.edu	37	4	69870669	69870669	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:69870669C>A	uc011cao.1	-	7	1486	c.1360G>T	c.(1360-1362)Gcc>Tcc	p.A454S	UGT2B10_uc011can.1_Missense_Mutation_p.A370S			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	498					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GCCACACAGGCCAGCAGGAAC	0.448												
WDFY3	23001	broad.mit.edu	37	4	85611704	85611704	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:85611704C>G	uc003hpd.3	-	60	9726	c.9318G>C	c.(9316-9318)gaG>gaC	p.E3106D		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3106						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGTGCCCATCTCCCACACAC	0.517												
FSTL5	56884	broad.mit.edu	37	4	162577555	162577555	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:162577555T>C	uc003iqh.3	-	6	1255	c.819A>G	c.(817-819)caA>caG	p.Q273Q	FSTL5_uc003iqi.3_Silent_p.Q272Q|FSTL5_uc010iqv.3_Silent_p.Q272Q	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	273	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGGGTTCCTTGAATGGCAC	0.388												
CDH9	1007	broad.mit.edu	37	5	26988213	26988213	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:26988213C>G	uc003jgs.1	-	2	397	c.228_splice	c.e2+1	p.K76_splice	CDH9_uc010iug.3_Splice_Site_p.K76_splice	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	76	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTCTTACCTTGCCTACAT	0.348												
C5orf48	389320	broad.mit.edu	37	5	125971812	125971812	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:125971812G>A	uc003kub.1	+	2	297	c.284G>A	c.(283-285)cGt>cAt	p.R95H		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	95										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						GGGGAAGATCGTAAAGTTGTC	0.443												
IK	3550	broad.mit.edu	37	5	140033536	140033536	+	Frame_Shift_Del	DEL	G	G	-			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140033536delG	uc003lgq.3	+	5	528	c.418delG	c.(418-420)gcafs	p.A140fs	IK_uc011czk.1_Frame_Shift_Del_p.A140fs|IK_uc021yen.1_Frame_Shift_Del_p.A81fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	140					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATCAGCTGCAGAGAAGAG	0.478												
PCDHGC5	56107	broad.mit.edu	37	5	140783915	140783915	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140783915G>A	uc003lkh.2	+	0	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.A466T	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	468	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)			GGAAAACAACGCCAGAGGTAC	0.468												
GRIA1	2890	broad.mit.edu	37	5	153149798	153149798	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:153149798G>A	uc011dcy.2	+	12	2150	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	GRIA1_uc003lva.4_Missense_Mutation_p.R698Q|GRIA1_uc003luy.4_Missense_Mutation_p.R698Q|GRIA1_uc003luz.4_Missense_Mutation_p.R603Q|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R618Q|GRIA1_uc011dcx.2_Missense_Mutation_p.R629Q|GRIA1_uc011dcz.2_Missense_Mutation_p.R708Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	698					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTTTTTGTGCGGACCACAGAG	0.468												
RNF130	55819	broad.mit.edu	37	5	179393829	179393829	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:179393829C>T	uc003mll.1	-	6	1534	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	RNF130_uc003mlm.1_Missense_Mutation_p.G376E	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	376					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGATTTCTCCTGTTCTCGG	0.587												
HIVEP1	3096	broad.mit.edu	37	6	12123451	12123451	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:12123451C>T	uc003nac.3	+	3	3602	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1141					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACACCAACTCCCTGAGCAGGC	0.507												
PGK2	5232	broad.mit.edu	37	6	49754388	49754388	+	Silent	SNP	G	G	A	rs147140024	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:49754388G>A	uc003ozu.3	-	0	666	c.513C>T	c.(511-513)cgC>cgT	p.R171R		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	171					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AACTATGAGCGCGGTGTGCAG	0.458												
INHBA	3624	broad.mit.edu	37	7	41729925	41729925	+	Missense_Mutation	SNP	T	T	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:41729925T>A	uc003thq.3	-	1	839	c.604A>T	c.(604-606)Agt>Tgt	p.S202C	INHBA_uc003thr.3_Missense_Mutation_p.S202C	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	202					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.R201S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AACAGTTCACTCCTCTCCCCC	0.582										TSP Lung(11;0.080)		
TMEM120A	83862	broad.mit.edu	37	7	75617603	75617603	+	Missense_Mutation	SNP	A	A	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:75617603A>C	uc003ued.3	-	6	631	c.527T>G	c.(526-528)aTc>aGc	p.I176S	TMEM120A_uc003ueb.1_5'Flank|TMEM120A_uc003uec.2_Missense_Mutation_p.I81S|TMEM120A_uc022agl.1_Missense_Mutation_p.I81S	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN	Homo sapiens transmembrane protein 120A (TMEM120A), mRNA.	177						integral to membrane											GCTCTCCCGGATGGTCAGGGT	0.652												
SMURF1	57154	broad.mit.edu	37	7	98636012	98636012	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:98636012G>A	uc003upu.2	-	15	2106	c.1766_splice	c.e15+1	p.R589_splice	SMURF1_uc003upv.2_Splice_Site_p.R563_splice|SMURF1_uc003upt.3_Splice_Site_p.R563_splice	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	589	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGGCATTACCGGACGTATTCT	0.577												
PIK3CG	5294	broad.mit.edu	37	7	106509059	106509059	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:106509059C>T	uc003vdv.4	+	1	1138	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	PIK3CG_uc003vdu.3_Silent_p.T351T|PIK3CG_uc003vdw.3_Silent_p.T351T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	351					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGTGTTCACCGTGTCCCTGT	0.572												
PRSS1	5644	broad.mit.edu	37	7	142460295	142460295	+	Silent	SNP	C	C	T	rs146076691		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:142460295C>T	uc003wak.2	+	3	485	c.468C>T	c.(466-468)gaC>gaT	p.D156D	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Silent_p.D96D	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	156	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACTACCCAGACGAGCTGCAGT	0.507												
TRAPPC9	83696	broad.mit.edu	37	8	141310662	141310662	+	Silent	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr8:141310662T>C	uc003yvh.2	-	10	1983	c.1968A>G	c.(1966-1968)aaA>aaG	p.K656K	TRAPPC9_uc003yvj.2_Silent_p.K558K|TRAPPC9_uc003yvi.1_Silent_p.K549K	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	558					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGCAAGCTTTTCATTTTGT	0.443												
LINGO2	158038	broad.mit.edu	37	9	27949565	27949565	+	Nonsense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:27949565G>A	uc003zqv.1	-	6	1755	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	LINGO2_uc010mjf.1_Nonsense_Mutation_p.R369*|LINGO2_uc003zqu.1_Nonsense_Mutation_p.R369*|LINGO2_uc022bfc.1_Nonsense_Mutation_p.R369*	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	369	LRRCT.					integral to membrane		p.R369Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GTGGGCTGTCGCTGCAAGATC	0.547												
KLF9	687	broad.mit.edu	37	9	73002796	73002796	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:73002796G>A	uc004aht.3	-	1	1925	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Homo sapiens Kruppel-like factor 9 (KLF9), mRNA.	211					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CTCATGAAGCGCTTCTCACAC	0.592												
EPB41L4B	54566	broad.mit.edu	37	9	112015778	112015778	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:112015778T>C	uc004bdz.1	-	11	1517	c.1222A>G	c.(1222-1224)Acc>Gcc	p.T408A	EPB41L4B_uc004bea.3_Missense_Mutation_p.T408A	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	408						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCAAAGGTGCTGGTTCTT	0.403												
CDX4	1046	broad.mit.edu	37	X	72667327	72667327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:72667327C>T	uc011mqk.2	+	0	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P79L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CAGTCCCCCGCGAGAAGACTG	0.607												
ATRX	546	broad.mit.edu	37	X	76918965	76918965	+	Silent	SNP	C	C	T			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:76918965C>T	uc004ecp.4	-	11	4258	c.4026G>A	c.(4024-4026)cgG>cgA	p.R1342R	ATRX_uc004ecq.4_Silent_p.R1304R|ATRX_uc004eco.4_Silent_p.R1127R|ATRX_uc004ecr.2_Silent_p.R1274R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1342					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.R1342W(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TCAATTTGTGCCGCAAAAGCC	0.363			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome					
MAGEA8	4107	broad.mit.edu	37	X	149013838	149013838	+	Silent	SNP	G	G	A			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:149013838G>A	uc022cgq.1	+	0	792	c.792G>A	c.(790-792)gcG>gcA	p.A264A	MAGEA8_uc022cgo.1_Silent_p.A264A|MAGEA8_uc004fdw.2_Silent_p.A264A|MAGEA8_uc022cgp.1_Silent_p.A264A	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	264	MAGE.							p.A264A(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGCCAGGCGCCCGGCAGTG	0.582