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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
OSBPL5	114879	broad.mit.edu	37	11	3125474	3125474	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:3125474G>C	ENST00000263650.7	-	10	1352	c.1193C>G	c.(1192-1194)tCc>tGc	p.S398C	OSBPL5_ENST00000389989.3_Missense_Mutation_p.S330C|OSBPL5_ENST00000542243.1_Missense_Mutation_p.S29C|OSBPL5_ENST00000525498.1_Missense_Mutation_p.S309C|OSBPL5_ENST00000348039.5_Missense_Mutation_p.S330C	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	398					cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport	cytosol	oxysterol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GTTCAGGAAGGAGCGCGGCTC	0.627000													17	48					0	0	0.055883	0	0
UGT1A6	54578	broad.mit.edu	37	2	234602440	234602440	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234602440C>T	ENST00000305139.6	+	1	929	c.790C>T	c.(790-792)Cct>Tct	p.P264S	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_5'UTR|AC114812.8_ENST00000439336.1_RNA|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		GCTTGAATATCCTAGGCCGGT	0.433000													87	256					0	0	0.139131	0	0
SCIN	85477	broad.mit.edu	37	7	12668812	12668812	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:12668812C>G	ENST00000297029.5	+	9	1385	c.1284C>G	c.(1282-1284)ctC>ctG	p.L428L	SCIN_ENST00000445618.2_Silent_p.L181L|SCIN_ENST00000519209.1_Silent_p.L181L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	428	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACATCATACTCTACACCTATC	0.418000													24	98					0	0	0.144211	0	0
SULF1	23213	broad.mit.edu	37	8	70540100	70540100	+	Splice_Site	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:70540100A>T	ENST00000260128.4	+	17	2758	c.2041A>T	c.(2041-2043)Agc>Tgc	p.S681C	SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000458141.2_Splice_Site_p.S681C|SULF1_ENST00000402687.4_Splice_Site_p.S681C|SULF1_ENST00000419716.3_Splice_Site_p.S681C	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	681					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CAGTAAACAAAGGTGAGCTTG	0.413000													18	45					0	0	0.175082	0	0
RP11-383H13.1	0	broad.mit.edu	37	8	72755904	72755904	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:72755904G>A	ENST00000537896.1	+	1	538	c.268G>A	c.(268-270)Gtt>Att	p.V90I	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_5'UTR|MSC_ENST00000325509.4_Silent_p.N170N																lung(1)	1						GCACGTAGCCGTTCTCATAGC	0.662000											OREG0018826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	22	85					0	0	0.091800	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147600711	147600711	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:147600711G>A	ENST00000361727.3	+	14	2669	c.2153G>A	c.(2152-2154)tGg>tAg	p.W718*		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	718	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CACTACTACTGGGGAGGCTCT	0.507000										HNSCC(39;0.1)			4	25					0	0	0.021553	0	0
TUBB3	10381	broad.mit.edu	37	16	90001364	90001364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:90001364G>A	ENST00000304984.5	+	3	2584	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	TUBB3_ENST00000315491.7_Missense_Mutation_p.V169I|TUBB3_ENST00000554444.1_Missense_Mutation_p.V97I|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Missense_Mutation_p.V516I			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	169					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		CACCTTCAGCGTCGTGCCCTC	0.627000													53	187					0	0	0.139131	0	0
RPN2	6185	broad.mit.edu	37	20	35865107	35865107	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:35865107C>G	ENST00000237530.6	+	16	2189	c.1878C>G	c.(1876-1878)gtC>gtG	p.V626V	RPN2_ENST00000373622.5_Silent_p.V594V|RPN2_ENST00000470352.1_3'UTR	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	626					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				AGCAGGCAGTCAAGAGGTAAG	0.532000													12	85					0	0	0.119110	0	0
KRTAP19-1	337882	broad.mit.edu	37	21	31852400	31852400	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:31852400C>T	ENST00000390689.2	-	1	263	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	79	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCCATTGTACGATGGGCGGC	0.493000													30	258					0	0	0.193644	0	0
CNN1	1264	broad.mit.edu	37	19	11660204	11660204	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:11660204G>A	ENST00000592923.1	+	7	995	c.418G>A	c.(418-420)Gac>Aac	p.D140N	CNN1_ENST00000544952.1_Missense_Mutation_p.D170N|CNN1_ENST00000252456.2_Missense_Mutation_p.D190N|CNN1_ENST00000535659.2_Missense_Mutation_p.D140N			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	190					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						CCACCTCTACGACCCCAAGCT	0.617000													16	77					0	0	0.189662	0	0
PTPRD	5789	broad.mit.edu	37	9	8500765	8500765	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:8500765G>C	ENST00000381196.4	-	21	2660	c.2117C>G	c.(2116-2118)aCc>aGc	p.T706S	PTPRD_ENST00000540109.1_Missense_Mutation_p.T706S|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.T693S|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.T706S|PTPRD_ENST00000358503.5_Missense_Mutation_p.T693S|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000471274.1_5'UTR	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	706	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATCTTCATTGGTTCGAATCAA	0.478000										TSP Lung(15;0.13)			29	51					0	0	0.173368	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99220228	99220228	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99220228G>C	ENST00000394152.2	+	6	973	c.646G>C	c.(646-648)Gag>Cag	p.E216Q	ZSCAN25_ENST00000262941.6_Intron|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E216Q	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		CAGAGACCAAGAGATGGCAGC	0.532000													30	85					0	0	0.125774	0	0
DHX34	9704	broad.mit.edu	37	19	47865903	47865903	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:47865903C>G	ENST00000328771.4	+	6	1895	c.1546C>G	c.(1546-1548)Ccc>Gcc	p.P516A	DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	516	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCCCCCTACCCCGTCCCAGA	0.652000													12	40					0	0	0.132662	0	0
RTKN	6242	broad.mit.edu	37	2	74659756	74659756	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:74659756C>A	ENST00000305557.5	-	3	695	c.110G>T	c.(109-111)cGg>cTg	p.R37L	RTKN_ENST00000272430.5_Missense_Mutation_p.R50L|RTKN_ENST00000484453.1_5'UTR|RTKN_ENST00000233330.6_5'UTR	NM_033046.2	NP_149035.1	Q9BST9	RTKN_HUMAN	rhotekin	50					apoptosis|regulation of anti-apoptosis|Rho protein signal transduction	intracellular	GTP binding|GTP-Rho binding|GTPase inhibitor activity			endometrium(3)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	16						TTCCCTCATCCGGATCTCATG	0.597000													14	90					0.0285812	0.0296257	0.146539	1	0
ATM	472	broad.mit.edu	37	11	108216494	108216494	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:108216494G>A	ENST00000278616.4	+	58	8828	c.8443G>A	c.(8443-8445)Gag>Aag	p.E2815K	ATM_ENST00000452508.2_Missense_Mutation_p.E2815K|C11orf65_ENST00000525729.1_Intron|C11orf65_ENST00000526725.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2815	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.K2810fs*1(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GTCTTTTGAAGAGAAATATGA	0.269000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			3	67					0	0	0.150653	0	0
GCN1L1	10985	broad.mit.edu	37	12	120597747	120597747	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:120597747G>C	ENST00000300648.6	-	24	2643	c.2631C>G	c.(2629-2631)atC>atG	p.I877M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	877					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)					CCAAAACAGGGATGTACTGGG	0.592000													14	88					0	0	0.146539	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45127209	45127209	+	RNA	SNP	G	G	T	rs142565357	by1000genomes	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:45127209G>T	ENST00000575173.1	-	0	418																											AGAGACAGATGGAAAGACAAC	0.453000													7	40					5.18039e-06	5.67117e-06	0.038147	1	0
GBF1	8729	broad.mit.edu	37	10	104142018	104142018	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:104142018C>T	ENST00000369983.3	+	40	5765	c.5505C>T	c.(5503-5505)atC>atT	p.I1835I		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1835	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CTGCGCTCATCGAGGCCACCT	0.637000													43	160					0	0	0.139131	0	0
EBAG9	9166	broad.mit.edu	37	8	110575628	110575628	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:110575628C>G	ENST00000531677.1	+	6	524	c.524C>G	c.(523-525)tCc>tGc	p.S175C	EBAG9_ENST00000337573.5_Intron|EBAG9_ENST00000395785.2_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			CCCTTCAGATCCAGGACCAAT	0.433000													370	216					0	0	0.139131	0	0
TAOK3	51347	broad.mit.edu	37	12	118599765	118599765	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:118599765G>T	ENST00000392533.3	-	18	2457	c.1967C>A	c.(1966-1968)aCc>aAc	p.T656N	TAOK3_ENST00000419821.2_Missense_Mutation_p.T656N|TAOK3_ENST00000537952.1_Missense_Mutation_p.T196N	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	656					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGCTCTCGGGTGGACTCGTC	0.512000													16	62					2.4624e-09	2.8039e-09	0.204396	1	0
FBXO46	23403	broad.mit.edu	37	19	46216736	46216736	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:46216736G>A	ENST00000317683.3	-	2	151	c.18C>T	c.(16-18)ctC>ctT	p.L6L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	6							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGAAGGGCAGGAGGCTCCCAC	0.657000													5	68					0	0	0.021553	0	0
GAS6	2621	broad.mit.edu	37	13	114530137	114530137	+	Splice_Site	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr13:114530137T>C	ENST00000357389.3	-	12	1590	c.1438A>G	c.(1438-1440)Ata>Gta	p.I480V	GAS6_ENST00000355761.4_Splice_Site_p.I383V|GAS6_ENST00000450766.1_Splice_Site_p.I164V|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_Splice_Site_p.I138V|GAS6_ENST00000327773.6_Splice_Site_p.I437V			Q14393	GAS6_HUMAN	growth arrest-specific 6	480	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CGAGGGTTTATCTGGAAAGGC	0.592000													27	79					0	0	0.153744	0	0
FAT2	2196	broad.mit.edu	37	5	150889707	150889707	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:150889707G>A	ENST00000261800.5	-	21	11946	c.11934C>T	c.(11932-11934)ttC>ttT	p.F3978F	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3978	EGF-like 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTTCCCAGAGAACTGTGGGG	0.522000													36	96					0	0	0.139131	0	0
INTS3	65123	broad.mit.edu	37	1	153719548	153719548	+	Splice_Site	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:153719548T>C	ENST00000456435.1	+	4	1000		c.e4+2		INTS3_ENST00000318967.2_Splice_Site|INTS3_ENST00000435409.2_Splice_Site|RP11-216N14.8_ENST00000453778.1_RNA			Q68E01	INT3_HUMAN	integrator complex subunit 3						DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGTACTCAGGTAAGGCCAGAA	0.468000													24	15					0	0	0.076483	0	0
TBCD	6904	broad.mit.edu	37	17	80887006	80887006	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:80887006G>T	ENST00000355528.4	+	31	2841	c.2711G>T	c.(2710-2712)tGc>tTc	p.C904F	TBCD_ENST00000539345.2_Missense_Mutation_p.C904F	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	904					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CGCATCATGTGCTGTGTGGCC	0.612000													7	71					0.00448238	0.00470876	0.047766	1	0
PCSK5	5125	broad.mit.edu	37	9	78973528	78973528	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:78973528G>A	ENST00000545128.1	+	37	5811	c.5273G>A	c.(5272-5274)gGg>gAg	p.G1758E		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTTCTGCTCGGGGCAGCTGTG	0.542000													6	38					0	0	0.021553	0	0
IGHG1	3500	broad.mit.edu	37	14	106208421	106208421	+	RNA	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:106208421C>G	ENST00000390548.2	-	0	478																											GTCCACGTACCAGTTGAACTT	0.602000													80	194					0	0	0.139131	0	0
DGCR8	54487	broad.mit.edu	37	22	20074017	20074017	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr22:20074017G>C	ENST00000351989.3	+	2	960	c.531G>C	c.(529-531)gaG>gaC	p.E177D	DGCR8_ENST00000407755.1_Missense_Mutation_p.E177D|DGCR8_ENST00000383024.2_Missense_Mutation_p.E177D	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	177	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TAGGGGGTGAGAGTGCTGATA	0.537000													68	471					0	0	0.139131	0	0
MLLT1	4298	broad.mit.edu	37	19	6230661	6230661	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:6230661C>A	ENST00000252674.7	-	4	503	c.340G>T	c.(340-342)Gtg>Ttg	p.V114L		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	114					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding	p.V114M(1)		endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						AGGTGGTTCACGGGCGGGTTG	0.612000			T	MLL	AL								97	162					2.17066e-49	2.61485e-49	0.139131	1	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs141732548	by1000genomes	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:14414855A>G	ENST00000507941.1	+	0	95																											GCCAATGGCCATGCAGAAGTA	0.448000													13	60					0	0	0.189662	0	0
SP110	3431	broad.mit.edu	37	2	231081529	231081529	+	Silent	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:231081529T>C	ENST00000258381.6	-	2	191	c.114A>G	c.(112-114)ctA>ctG	p.L38L	SP110_ENST00000540870.1_Silent_p.L44L|SP110_ENST00000338556.3_5'UTR|SP110_ENST00000392048.3_Silent_p.L38L|SP110_ENST00000258382.5_Silent_p.L38L|SP110_ENST00000358662.4_Silent_p.L38L	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	38	HSR.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TGGAGTTGTCTAGGAGGCCTT	0.483000													18	70					0	0	0.055883	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128856559	128856559	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:128856559C>T	ENST00000310343.9	-	13	1260	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	ARHGAP32_ENST00000392657.3_Missense_Mutation_p.E72K|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.E72K|ARHGAP32_ENST00000524655.1_Missense_Mutation_p.E347K	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	421	Rho-GAP.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GAGTCAAATTCATGGCTGACG	0.453000													14	49					0	0	0.132662	0	0
ISG20	3669	broad.mit.edu	37	15	89182733	89182733	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:89182733G>C	ENST00000306072.5	+	2	494	c.136G>C	c.(136-138)Gag>Cag	p.E46Q	ISG20_ENST00000379224.5_Missense_Mutation_p.E46Q|ISG20_ENST00000560741.1_Missense_Mutation_p.E46Q	NM_002201.4	NP_002192.2	Q96AZ6	ISG20_HUMAN	interferon stimulated exonuclease gene 20kDa	46					cell proliferation|DNA catabolic process, exonucleolytic|response to virus|RNA catabolic process|type I interferon-mediated signaling pathway	PML body	3'-5'-exoribonuclease activity|exoribonuclease II activity|metal ion binding|RNA binding|single-stranded DNA specific 3'-5' exodeoxyribonuclease activity			large_intestine(1)|lung(3)|prostate(1)	5	Lung NSC(78;0.0554)|all_lung(78;0.103)		BRCA - Breast invasive adenocarcinoma(143;0.12)			CATCCGGCCTGAGGGAGAGAT	0.642000													15	117					0	0	0.189662	0	0
CUBN	8029	broad.mit.edu	37	10	17107557	17107557	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:17107557A>T	ENST00000377833.4	-	22	3154	c.3089T>A	c.(3088-3090)cTc>cAc	p.L1030H		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1030	CUB 5.				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			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)	TTCATAAGCGAGGTCGGAGTC	0.428000													33	196					0	0	0.183431	0	0
HJURP	55355	broad.mit.edu	37	2	234761219	234761219	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234761219C>T	ENST00000411486.2	-	3	297	c.232G>A	c.(232-234)Gag>Aag	p.E78K	HJURP_ENST00000441687.1_Missense_Mutation_p.E78K|HJURP_ENST00000432087.1_Missense_Mutation_p.E78K	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	78					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACCTGGATCTCTCCTTCGTTT	0.378000													5	15					0	0	0.184627	0	0
UTP18	51096	broad.mit.edu	37	17	49340655	49340655	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:49340655G>C	ENST00000225298.7	+	2	420	c.363G>C	c.(361-363)tcG>tcC	p.S121S		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	121					rRNA processing	nucleolus		p.S121S(1)		breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			ATGAAGACTCGGGTGACTCAG	0.438000													10	46					0	0	0.080935	0	0
KLF11	8462	broad.mit.edu	37	2	10186443	10186443	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:10186443G>T	ENST00000535335.1	+	2	374	c.158G>T	c.(157-159)aGa>aTa	p.R53I	KLF11_ENST00000305883.1_Missense_Mutation_p.R70I|KLF11_ENST00000540845.1_Missense_Mutation_p.R53I	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	70					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TTGCGGATAAGACCCCTCACG	0.512000													10	45					7.03913e-09	7.95727e-09	0.093190	1	0
CCDC62	84660	broad.mit.edu	37	12	123297940	123297940	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:123297940G>A	ENST00000253079.6	+	11	2319	c.1975G>A	c.(1975-1977)Gag>Aag	p.E659K	CCDC62_ENST00000392441.4_Missense_Mutation_p.E659K|CCDC62_ENST00000392440.2_Missense_Mutation_p.E420K|CCDC62_ENST00000537566.1_Missense_Mutation_p.E420K	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	659						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		CATCAGCCATGAGAATCTCAC	0.498000													10	59					0	0	0.058154	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803552	142803552	+	RNA	SNP	T	T	A	rs141013493	by1000genomes	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:142803552T>A	ENST00000423385.1	-	0	1413																											TCCTGATGAATCTGCAGTCAG	0.269000													8	134					0	0	0.058154	0	0
CDH15	1013	broad.mit.edu	37	16	89260217	89260217	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:89260217G>C	ENST00000289746.2	+	13	2112	c.2047G>C	c.(2047-2049)Gga>Cga	p.G683R		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	683					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CCTGCCTCTGGGACCGCCGCC	0.697000													5	40					0	0	0.021553	0	0
MYO6	4646	broad.mit.edu	37	6	76558186	76558186	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:76558186G>A	ENST00000369981.3	+	11	1295	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q	MYO6_ENST00000369977.3_Missense_Mutation_p.R339Q|MYO6_ENST00000369985.4_Missense_Mutation_p.R339Q|MYO6_ENST00000369975.1_Missense_Mutation_p.R339Q			Q9UM54	MYO6_HUMAN	myosin VI	339	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GATCTCTTCCGGGTAGTAGCT	0.373000													10	74					0	0	0.132662	0	0
KRT16P6	353194	broad.mit.edu	37	17	16723373	16723373	+	RNA	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:16723373C>T	ENST00000417510.1	-	0	746																											CCATTGATGTCGGCCCCCACA	0.572000													22	69					0	0	0.099896	0	0
DLGAP4	22839	broad.mit.edu	37	20	35068239	35068239	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:35068239G>A	ENST00000373913.3	+	5	1804	c.1324G>A	c.(1324-1326)Gac>Aac	p.D442N	DLGAP4_ENST00000373907.2_Missense_Mutation_p.D442N|DLGAP4_ENST00000401952.2_Missense_Mutation_p.D442N|DLGAP4_ENST00000339266.5_Missense_Mutation_p.D442N			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	442					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCGTCAGCGACAGCCTCAA	0.632000											OREG0025903	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	53					0	0	0.146539	0	0
ENPP1	5167	broad.mit.edu	37	6	132207839	132207839	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:132207839G>A	ENST00000360971.2	+	24	2602	c.2582G>A	c.(2581-2583)aGg>aAg	p.R861K		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	861	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTGCCTCACAGGACTGATAAC	0.388000													16	40					0	0	0.204396	0	0
IQSEC3	440073	broad.mit.edu	37	12	247681	247681	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:247681G>A	ENST00000538872.1	+	4	1270	c.1152G>A	c.(1150-1152)tcG>tcA	p.S384S	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Silent_p.S81S|IQSEC3_ENST00000326261.4_Silent_p.S384S			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	384					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGGTGCGCTCGCCCTCCCTGC	0.697000													3	5					0	0	0.115264	0	0
JADE1	79960	broad.mit.edu	37	4	129778586	129778586	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:129778586G>T	ENST00000226319.6	+	8	1238	c.958G>T	c.(958-960)Gag>Tag	p.E320*	PHF17_ENST00000512960.1_Nonsense_Mutation_p.E320*|PHF17_ENST00000413543.2_Nonsense_Mutation_p.E320*|PHF17_ENST00000452328.2_Nonsense_Mutation_p.E308*|PHF17_ENST00000511647.1_Nonsense_Mutation_p.E320*	NM_199320.2	NP_955352.1	Q6IE81	JADE1_HUMAN		320					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCTCTGCAATGAGAAGTTTGG	0.537000													43	144					2.46787e-29	2.93884e-29	0.139131	1	0
GSTA5	221357	broad.mit.edu	37	6	52701126	52701126	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:52701126A>C	ENST00000370989.2	-	3	209	c.180T>G	c.(178-180)atT>atG	p.I60M	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.I60M			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TCATCCCGTCAATCTCAACCA	0.433000													13	72					0	0	0.105934	0	0
FNIP1	96459	broad.mit.edu	37	5	130987673	130987673	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:130987673G>C	ENST00000307968.7	-	15	3043	c.3044C>G	c.(3043-3045)cCa>cGa	p.P1015R	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Missense_Mutation_p.P998R|FNIP1_ENST00000510461.1_Missense_Mutation_p.P1043R	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTCTGCTATTGGTTCATCCAA	0.363000													9	52					0	0	0.069234	0	0
ANAPC7	51434	broad.mit.edu	37	12	110826320	110826320	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:110826320G>C	ENST00000455511.3	-	4	619	c.619C>G	c.(619-621)Cta>Gta	p.L207V	ANAPC7_ENST00000450008.2_Missense_Mutation_p.L207V|RP11-478C19.2_ENST00000550231.1_RNA	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	207					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						TCTCTACCTAGAATGGCATCA	0.433000													8	62					0	0	0.058154	0	0
FBXO27	126433	broad.mit.edu	37	19	39521746	39521746	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:39521746C>G	ENST00000292853.4	-	4	614	c.495G>C	c.(493-495)caG>caC	p.Q165H	FBXO27_ENST00000509137.2_Missense_Mutation_p.Q165H|FBXO27_ENST00000600828.1_Missense_Mutation_p.Q164H|CTB-189B5.3_ENST00000597303.1_RNA	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	165	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGTCCAAGACCTGCTTCTTGC	0.527000													29	144					0	0	0.163468	0	0
TONSL	4796	broad.mit.edu	37	8	145665527	145665527	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:145665527C>T	ENST00000409379.3	-	11	1386	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	453	Glu-rich.				cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing	cytoplasm|nuclear replication fork	histone binding|transcription corepressor activity			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						AGTCTGGTTTCGGTCTCAGGG	0.637000													32	112					0	0	0.139131	0	0
GAS5	60674	broad.mit.edu	37	1	173834028	173834028	+	RNA	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:173834028G>A	ENST00000364822.2	-	0	18					NR_003940.1																						GCTGAACTATGTTATCATCAT	0.463000													12	200					0	0	0.132662	0	0
TIPRL	261726	broad.mit.edu	37	1	168169157	168169157	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:168169157T>C	ENST00000367833.2	+	7	837	c.692T>C	c.(691-693)cTc>cCc	p.L231P		NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	231	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					CCACCTTCCCTCTTCACGGAA	0.343000													123	34					0	0	0.139131	0	0
LILRA2	11027	broad.mit.edu	37	19	55086317	55086317	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55086317G>T	ENST00000251377.3	+	5	605	c.472G>T	c.(472-474)Gga>Tga	p.G158*	LILRA2_ENST00000391737.1_Nonsense_Mutation_p.G146*|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Nonsense_Mutation_p.G158*|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Nonsense_Mutation_p.G158*					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GTGTAAGGAAGGAGAAGATGA	0.602000													24	162					1.66031e-10	1.92571e-10	0.091800	1	0
CUBN	8029	broad.mit.edu	37	10	17083214	17083214	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:17083214C>T	ENST00000377833.4	-	27	3900	c.3835G>A	c.(3835-3837)Gag>Aag	p.E1279K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1279	CUB 8.				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			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)	ACCACATTCTCACATGCTGGA	0.348000													10	74					0	0	0.119110	0	0
G2E3	55632	broad.mit.edu	37	14	31085657	31085657	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:31085657G>C	ENST00000206595.6	+	15	2192	c.2038G>C	c.(2038-2040)Gag>Cag	p.E680Q	G2E3_ENST00000553504.1_Missense_Mutation_p.E710Q|G2E3_ENST00000438909.2_Missense_Mutation_p.E634Q	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	680	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						TACATATAAAGAGTTTCAAGA	0.333000													8	19					0	0	0.058154	0	0
FAM49A	81553	broad.mit.edu	37	2	16747025	16747025	+	Silent	SNP	A	A	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:16747025A>G	ENST00000381323.3	-	4	301	c.81T>C	c.(79-81)ccT>ccC	p.P27P	FAM49A_ENST00000355549.2_Silent_p.P27P|FAM49A_ENST00000406434.1_Silent_p.P27P	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	27						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCCTTCTGTAGGCTGAGCAT	0.498000													3	29					0	0	0.115264	0	0
FAM129A	116496	broad.mit.edu	37	1	184777366	184777366	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:184777366G>C	ENST00000367511.3	-	10	1370	c.1177C>G	c.(1177-1179)Cta>Gta	p.L393V	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	393					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AGCCGGTCTAGATGCTGCATT	0.433000													42	18					0	0	0.139131	0	0
CC2D1B	200014	broad.mit.edu	37	1	52821911	52821911	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:52821911C>A	ENST00000371586.2	-	18	2157	c.2019G>T	c.(2017-2019)caG>caT	p.Q673H	CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q667H|CC2D1B_ENST00000438831.1_Missense_Mutation_p.Q48H|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	673										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GGTCGAGGCCCTGAGCCTGGG	0.572000													18	71					8.10497e-08	9.03126e-08	0.055883	1	0
CSMD3	114788	broad.mit.edu	37	8	113358438	113358438	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:113358438C>G	ENST00000297405.5	-	41	6574	c.6330G>C	c.(6328-6330)caG>caC	p.Q2110H	CSMD3_ENST00000455883.2_Missense_Mutation_p.Q2006H|CSMD3_ENST00000352409.3_Missense_Mutation_p.Q2040H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q2070H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2110						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACCACCACACTGAGCTGCAA	0.383000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			4	81					0	0	0.150653	0	0
DROSHA	29102	broad.mit.edu	37	5	31472255	31472255	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:31472255A>G	ENST00000511367.2	-	16	2400	c.2156T>C	c.(2155-2157)aTt>aCt	p.I719T	DROSHA_ENST00000344624.3_Missense_Mutation_p.I719T|DROSHA_ENST00000442743.1_Missense_Mutation_p.I682T|DROSHA_ENST00000513349.1_Missense_Mutation_p.I682T	NM_013235.4	NP_037367.3	Q9NRR4	RNC_HUMAN	drosha, ribonuclease type III	719	Necessary for interaction with DGCR8 and pri-miRNA processing activity.				gene silencing by RNA|ribosome biogenesis|RNA processing	nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1)	66						CATATTGGCAATCTCCTCCTC	0.512000													32	130					0	0	0.092188	0	0
MERTK	10461	broad.mit.edu	37	2	112779916	112779916	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:112779916G>A	ENST00000295408.4	+	18	2688	c.2431G>A	c.(2431-2433)Gac>Aac	p.D811N	MERTK_ENST00000421804.2_Missense_Mutation_p.D811N|MERTK_ENST00000409780.1_Missense_Mutation_p.D635N			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	811	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TGAGATGTATGACTATCTTCT	0.537000													17	47					0	0	0.160694	0	0
UTP6	55813	broad.mit.edu	37	17	30205295	30205295	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:30205295G>C	ENST00000261708.4	-	13	1236	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	367					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				CATTCTGACAGAAGCTTCAGT	0.408000													17	77					0	0	0.083992	0	0
GBF1	8729	broad.mit.edu	37	10	104129518	104129518	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:104129518G>C	ENST00000369983.3	+	25	3458	c.3198G>C	c.(3196-3198)gaG>gaC	p.E1066D		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1066					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		AGCGGGAAGAGACACCATCAA	0.483000													16	38					0	0	0.062417	0	0
CHD5	26038	broad.mit.edu	37	1	6214906	6214906	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:6214906C>T	ENST00000262450.3	-	5	658	c.559G>A	c.(559-561)Gtc>Atc	p.V187I	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	187					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCACCCAGGACGGTCATCATT	0.637000													61	44					0	0	0.139131	0	0
FNDC3A	22862	broad.mit.edu	37	13	49760119	49760119	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr13:49760119A>C	ENST00000492622.2	+	15	1942	c.1637A>C	c.(1636-1638)gAa>gCa	p.E546A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.E546A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.E490A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	546	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAACTCAGAAGGTAAAAGT	0.353000													7	22					0	0	0.029380	0	0
ZNF436	80818	broad.mit.edu	37	1	23688971	23688971	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:23688971C>G	ENST00000314011.4	-	4	1040	c.904G>C	c.(904-906)Ggg>Cgg	p.G302R	ZNF436_ENST00000374608.3_Missense_Mutation_p.G302R	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGCCTCTCCCCTGTGTGGACT	0.522000													22	108					0	0	0.091800	0	0
SPSB2	84727	broad.mit.edu	37	12	6981672	6981672	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:6981672C>A	ENST00000519357.1	-	2	580	c.394G>T	c.(394-396)Ggc>Tgc	p.G132C	SPSB2_ENST00000523102.1_Missense_Mutation_p.G132C|SPSB2_ENST00000524270.1_Missense_Mutation_p.G132C			Q99619	SPSB2_HUMAN	splA/ryanodine receptor domain and SOCS box containing 2	132	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			kidney(2)|lung(2)|upper_aerodigestive_tract(1)	5						ATGTCCCAGCCCCACGACTCG	0.701000											OREG0021639	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	114					1.39806e-14	1.63982e-14	0.134883	1	0
MLLT4	4301	broad.mit.edu	37	6	168272964	168272964	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:168272964C>G	ENST00000366806.2	+	4	627	c.485C>G	c.(484-486)tCa>tGa	p.S162*	MLLT4_ENST00000392108.3_Nonsense_Mutation_p.S162*|MLLT4_ENST00000392112.1_Nonsense_Mutation_p.S161*|MLLT4_ENST00000351017.4_Nonsense_Mutation_p.S162*|MLLT4_ENST00000400822.3_Nonsense_Mutation_p.S161*|MLLT4_ENST00000344191.4_Nonsense_Mutation_p.S162*|MLLT4_ENST00000447894.2_Nonsense_Mutation_p.S162*			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	162					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAACTCTCTCaaagaaagaa	0.388000			T	MLL	AL								7	32					0	0	0.038147	0	0
C11orf63	79864	broad.mit.edu	37	11	122756667	122756667	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:122756667G>A	ENST00000227349.2	+	2	407	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	C11orf63_ENST00000307257.6_Missense_Mutation_p.R37Q|C11orf63_ENST00000531316.1_Missense_Mutation_p.R37Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	37								p.R37Q(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GACTTACATCGGATTTCAAAA	0.433000													23	55					0	0	0.062417	0	0
AHNAK2	113146	broad.mit.edu	37	14	105413989	105413989	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:105413989G>A	ENST00000333244.5	-	7	7918	c.7799C>T	c.(7798-7800)gCg>gTg	p.A2600V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2600						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCACTTCCGCCTTGGGGCC	0.622000													41	217					0	0	0.139131	0	0
EIF5B	9669	broad.mit.edu	37	2	99993068	99993068	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:99993068G>C	ENST00000289371.6	+	10	2013	c.1811G>C	c.(1810-1812)aGg>aCg	p.R604T		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAAGAAGAAAGGGCTTATGAC	0.373000													10	41					0	0	0.105934	0	0
DNAJC28	54943	broad.mit.edu	37	21	34861116	34861116	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:34861116C>A	ENST00000314399.3	-	2	1023	c.585G>T	c.(583-585)aaG>aaT	p.K195N	DNAJC28_ENST00000402202.1_Missense_Mutation_p.K195N|DNAJC28_ENST00000381947.3_Missense_Mutation_p.K195N	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	195							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTTGCGTTATCTTTTGCTGTT	0.373000													17	59					1.67942e-08	1.88481e-08	0.175082	1	0
ATG2B	55102	broad.mit.edu	37	14	96784135	96784135	+	Missense_Mutation	SNP	G	G	C	rs113424169		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:96784135G>C	ENST00000359933.4	-	19	3830	c.2937C>G	c.(2935-2937)ttC>ttG	p.F979L		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	979										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AAATATTCTCGAATGTCTCCA	0.368000													32	83					0	0	0.086207	0	0
SPATA7	55812	broad.mit.edu	37	14	88892876	88892876	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:88892876C>G	ENST00000556553.1	+	6	1136	c.577C>G	c.(577-579)Ctt>Gtt	p.L193V	SPATA7_ENST00000356583.5_Missense_Mutation_p.L193V|SPATA7_ENST00000045347.7_Missense_Mutation_p.L225V|SPATA7_ENST00000393545.4_Missense_Mutation_p.L225V			Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	225					response to stimulus|visual perception					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						CAGTGGGGATCTTTTGGATAA	0.438000													16	75					0	0	0.055883	0	0
PRKDC	5591	broad.mit.edu	37	8	48846651	48846651	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:48846651C>G	ENST00000314191.2	-	15	1554		c.e15-1		PRKDC_ENST00000523565.1_Splice_Site|PRKDC_ENST00000338368.3_Splice_Site	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACTCAGGGCCCTGGCCAGAAA	0.473000								Non-homologous end-joining					3	159					0	0	0.150653	0	0
PCSK4	54760	broad.mit.edu	37	19	1489889	1489889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:1489889G>C	ENST00000300954.5	-	2	258	c.197C>G	c.(196-198)cCt>cGt	p.P66R	PCSK4_ENST00000587784.1_Intron	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	66				P -> S (in Ref. 1; AAQ89322 and 3; AAH36354).	proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)		CTGCCCGTCAGGGAAGATCTG	0.672000													3	14					0	0	0.184627	0	0
LRRC7	57554	broad.mit.edu	37	1	70509735	70509735	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:70509735G>C	ENST00000035383.5	+	20	3984	c.3954G>C	c.(3952-3954)caG>caC	p.Q1318H	LRRC7_ENST00000310961.5_Intron|LRRC7_ENST00000415775.2_Missense_Mutation_p.Q602H	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1318						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAACTTGCAGACTAAGTCTA	0.398000													12	45					0	0	0.080935	0	0
TINAG	27283	broad.mit.edu	37	6	54173466	54173466	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:54173466A>C	ENST00000259782.4	+	1	214	c.118A>C	c.(118-120)Acc>Ccc	p.T40P	TINAG_ENST00000370864.3_Missense_Mutation_p.T22P|TINAG_ENST00000370869.3_Missense_Mutation_p.T36P|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	40					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TAGGAATCACACCGTTTTGCA	0.398000													22	46					0	0	0.076483	0	0
MVP	9961	broad.mit.edu	37	16	29855914	29855914	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:29855914G>T	ENST00000357402.5	+	11	1873	c.1735G>T	c.(1735-1737)Gtg>Ttg	p.V579L	MVP_ENST00000395353.1_Missense_Mutation_p.V579L	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	579					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCATCCCGGGTGCGGGGGGC	0.562000													157	101					3.65916e-55	4.42503e-55	0.139131	1	0
KIRREL3	84623	broad.mit.edu	37	11	126314964	126314964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:126314964C>T	ENST00000525144.2	-	10	1411	c.1162G>A	c.(1162-1164)Gtg>Atg	p.V388M	KIRREL3_ENST00000529097.2_Missense_Mutation_p.V388M|KIRREL3_ENST00000525704.2_Missense_Mutation_p.V388M	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	388	Ig-like C2-type 4.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCCTGGCGCACGGATTTGAGG	0.617000													15	59					0	0	0.160694	0	0
ZNF112	7665	broad.mit.edu	37	19	44832239	44832239	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:44832239C>G	ENST00000354340.4	-	4	2122	c.2071G>C	c.(2071-2073)Gag>Cag	p.E691Q	ZNF112_ENST00000337401.4_Missense_Mutation_p.E697Q|ZNF112_ENST00000536500.1_Missense_Mutation_p.E714Q	NM_013380.3	NP_037512.3			zinc finger protein 112																		TTACCACACTCATCACATTGG	0.448000													8	41					0	0	0.038147	0	0
TBC1D13	54662	broad.mit.edu	37	9	131553894	131553894	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:131553894G>C	ENST00000372648.5	+	5	372	c.222G>C	c.(220-222)ctG>ctC	p.L74L	TBC1D13_ENST00000539497.1_Intron|TBC1D13_ENST00000223865.8_Silent_p.L74L|TBC1D13_ENST00000466056.1_3'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	74	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CCCAGTTCCTGAGGGAAATGA	0.577000													15	65					0	0	0.132662	0	0
MAP3K13	9175	broad.mit.edu	37	3	185200201	185200201	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:185200201C>G	ENST00000265026.3	+	14	3192	c.2858C>G	c.(2857-2859)gCc>gGc	p.A953G	TMEM41A_ENST00000475480.1_Intron|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A809G|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A746G|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A809G|MAP3K13_ENST00000424227.1_Missense_Mutation_p.A953G	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	953					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTCTGATGCCACAGTTAGG	0.443000													4	245					0	0	0.021553	0	0
ZFPM2	23414	broad.mit.edu	37	8	106813404	106813404	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:106813404G>A	ENST00000407775.2	+	8	1344	c.1094G>A	c.(1093-1095)tGt>tAt	p.C365Y	ZFPM2_ENST00000520492.1_Missense_Mutation_p.C233Y|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.C233Y|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000378472.4_Missense_Mutation_p.C96Y	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	365					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCCTTCCGATGTAATCACTGC	0.502000													41	344					0	0	0.124865	0	0
ANKFN1	162282	broad.mit.edu	37	17	54431282	54431282	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:54431282C>G	ENST00000566473.2	+	5	485	c.485C>G	c.(484-486)cCa>cGa	p.P162R	ANKFN1_ENST00000318698.2_Missense_Mutation_p.P162R			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	162										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						CAGTACACACCAGAAGAACTT	0.493000													17	58					0	0	0.204396	0	0
C2orf16	84226	broad.mit.edu	37	2	27800283	27800283	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:27800283G>A	ENST00000408964.2	+	1	895	c.844G>A	c.(844-846)Gag>Aag	p.E282K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	282										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GTTGACCGCTGAGGCAAGGAT	0.463000													26	54					0	0	0.091800	0	0
DSN1	79980	broad.mit.edu	37	20	35383166	35383166	+	Splice_Site	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:35383166C>G	ENST00000426836.1	-	10	1333	c.961G>C	c.(961-963)Gga>Cga	p.G321R	DSN1_ENST00000473615.1_5'UTR|DSN1_ENST00000373734.4_Splice_Site_p.G214R|DSN1_ENST00000448110.2_Splice_Site_p.G305R|DSN1_ENST00000373740.3_Splice_Site_p.G249R|DSN1_ENST00000373745.3_Splice_Site_p.G321R|DSN1_ENST00000373750.4_Splice_Site_p.G321R	NM_001145316.1	NP_001138788.1	Q9H410	DSN1_HUMAN	DSN1, MIS12 kinetochore complex component	321					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	16		Myeloproliferative disorder(115;0.00874)				ACAAGCTTACCGAGCTGTACT	0.473000													5	35					0	0	0.184627	0	0
ARMCX1	51309	broad.mit.edu	37	X	100808026	100808026	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:100808026G>C	ENST00000372829.3	+	4	484	c.113G>C	c.(112-114)tGg>tCg	p.W38S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	38						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						GAGAAAATCTGGGACGAAGAC	0.567000													9	26					0	0	0.058154	0	0
KDM1B	221656	broad.mit.edu	37	6	18212781	18212781	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:18212781G>A	ENST00000388870.2	+	18	2173	c.1932G>A	c.(1930-1932)ttG>ttA	p.L644L	KDM1B_ENST00000397244.1_Silent_p.L412L|KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Silent_p.L411L			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	643					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						ATCCACCGTTGTCAGAGAAGA	0.403000													14	142					0	0	0.119110	0	0
IL17RE	132014	broad.mit.edu	37	3	9956436	9956436	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:9956436C>G	ENST00000454190.2	+	15	1580	c.1495C>G	c.(1495-1497)Cct>Gct	p.P499A	IL17RE_ENST00000383814.3_Silent_p.A474A|IL17RE_ENST00000295980.3_Silent_p.A474A|IL17RE_ENST00000421412.1_Silent_p.A507A	NM_001193380.1	NP_001180309.1	Q8NFR9	I17RE_HUMAN	interleukin 17 receptor E	0	SEFIR.					cytoplasm|extracellular region|integral to membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(11)|skin(1)	21				OV - Ovarian serous cystadenocarcinoma(96;5.34e-64)		TTGTTCTGGCCCTCACCTGCC	0.627000													3	85					0	0	0.150653	0	0
UBASH3A	53347	broad.mit.edu	37	21	43854960	43854960	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:43854960A>T	ENST00000319294.6	+	10	1320	c.1289A>T	c.(1288-1290)gAc>gTc	p.D430V	UBASH3A_ENST00000291535.6_Missense_Mutation_p.D392V|UBASH3A_ENST00000398367.1_Missense_Mutation_p.D392V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	430	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TACAGGCCAGACCTGAATTTC	0.443000													14	39					0	0	0.160694	0	0
KRR1	11103	broad.mit.edu	37	12	75905364	75905364	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:75905364G>A	ENST00000229214.4	-	1	37	c.14C>T	c.(13-15)tCg>tTg	p.S5L	KRR1_ENST00000438169.2_Missense_Mutation_p.S5L	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	5					rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCGCTCCAGCGAGGGAGACGC	0.532000													9	49					0	0	0.058154	0	0
KMT2B	9757	broad.mit.edu	37	19	36212397	36212397	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:36212397G>C	ENST00000222270.7	+	3	2148	c.2148G>C	c.(2146-2148)aaG>aaC	p.K716N	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.K716N|KMT2B_ENST00000341701.1_Missense_Mutation_p.R572T	NM_014727.1	NP_055542.1			lysine (K)-specific methyltransferase 2B																		CTCCTGTTAAGGCCGAGGTGT	0.657000													15	76					0	0	0.160694	0	0
FCRL5	83416	broad.mit.edu	37	1	157489551	157489551	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:157489551G>C	ENST00000361835.3	-	13	2799	c.2642C>G	c.(2641-2643)cCt>cGt	p.P881R	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Missense_Mutation_p.P881R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	881						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GTCAGAGGCAGGCTTTCTCCC	0.502000													8	60					0	0	0.093190	0	0
ASGR1	432	broad.mit.edu	37	17	7077715	7077715	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:7077715C>G	ENST00000574388.1	-	4	1095	c.303G>C	c.(301-303)caG>caC	p.Q101H	ASGR1_ENST00000380920.4_Missense_Mutation_p.Q39H|ASGR1_ENST00000269299.3_Missense_Mutation_p.Q140H|ASGR1_ENST00000572879.1_5'UTR			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	140					receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						GCGCCGCCATCTGACAGCTCA	0.682000													16	20					0	0	0.146539	0	0
HPSE2	60495	broad.mit.edu	37	10	100219428	100219428	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:100219428C>T	ENST00000370552.3	-	12	1741	c.1682G>A	c.(1681-1683)cGc>cAc	p.R561H	HPSE2_ENST00000370546.1_3'UTR|HPSE2_ENST00000404542.1_Missense_Mutation_p.R449H|HPSE2_ENST00000370549.1_Missense_Mutation_p.R503H	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	561					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CCGAAGGGGGCGGGGCTTCAA	0.552000													23	30					0	0	0.069288	0	0
OR5B17	219965	broad.mit.edu	37	11	58125948	58125948	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:58125948G>T	ENST00000357377.3	-	1	594	c.595C>A	c.(595-597)Ctt>Att	p.L199I		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CTTGATATAAGAACAAGAATC	0.363000													3	37					0.00909568	0.00949114	0.150653	1	0
SYT6	148281	broad.mit.edu	37	1	114680320	114680320	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:114680320G>A	ENST00000393296.1	-	3	945	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	SYT6_ENST00000369547.1_Silent_p.L205L|SYT6_ENST00000610222.1_Silent_p.L290L|SYT6_ENST00000609117.1_Silent_p.L205L|SYT6_ENST00000607941.1_Silent_p.L205L			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	290	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGGGTTCAGGGTCTTGCGG	0.557000													14	71					0	0	0.146539	0	0
POLE	5426	broad.mit.edu	37	12	133218913	133218913	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:133218913G>A	ENST00000320574.5	-	38	5066	c.5023C>T	c.(5023-5025)Cgc>Tgc	p.R1675C	POLE_ENST00000535270.1_Missense_Mutation_p.R1648C	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1675					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGAGGTGGCGGGCAAAGAAG	0.597000								DNA polymerases (catalytic subunits)					26	45					0	0	0.099896	0	0
GSTA1	2938	broad.mit.edu	37	6	52659018	52659018	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:52659018G>C	ENST00000334575.5	-	5	474	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	107	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGCAGAAGGAGGATCATTTCA	0.378000													20	83					0	0	0.204396	0	0
ZNF383	163087	broad.mit.edu	37	19	37733545	37733545	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:37733545G>C	ENST00000589413.1	+	8	990	c.407G>C	c.(406-408)gGg>gCg	p.G136A	ZNF383_ENST00000590503.1_Missense_Mutation_p.G136A|ZNF383_ENST00000352998.3_Missense_Mutation_p.G136A			Q8NA42	ZN383_HUMAN	zinc finger protein 383	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCCAAATGGGCATTTTAGT	0.378000													17	82					0	0	0.204396	0	0
TOM1	10043	broad.mit.edu	37	22	35719129	35719129	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr22:35719129C>A	ENST00000382034.5	+	5	466	c.124C>A	c.(124-126)Cca>Aca	p.P42T	TOM1_ENST00000447733.1_Missense_Mutation_p.P76T|TOM1_ENST00000449058.2_Missense_Mutation_p.P109T|TOM1_ENST00000411850.1_Missense_Mutation_p.P109T|TOM1_ENST00000436462.2_Missense_Mutation_p.P71T|TOM1_ENST00000425375.1_Missense_Mutation_p.P109T			O60784	TOM1_HUMAN	target of myb1 (chicken)	109	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CAAGAACAACCCACCCACCAT	0.602000													8	67					4.68919e-08	5.24382e-08	0.069234	1	0
TCP1	6950	broad.mit.edu	37	6	160210477	160210477	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:160210477G>A	ENST00000321394.7	-	1	304	c.24C>T	c.(22-24)ttC>ttT	p.F8F	TCP1_ENST00000544255.1_5'UTR|TCP1_ENST00000420894.2_Silent_p.F8F|TCP1_ENST00000546023.1_5'UTR|TCP1_ENST00000392168.2_5'UTR	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	8					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TGCGGTCACCGAACACGGACA	0.677000													11	59					0	0	0.105934	0	0
ZNF227	7770	broad.mit.edu	37	19	44739769	44739769	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:44739769C>T	ENST00000313040.7	+	6	1391	c.1186C>T	c.(1186-1188)Cgt>Tgt	p.R396C	ZNF227_ENST00000589005.1_Missense_Mutation_p.R345C|ZNF227_ENST00000391961.2_Missense_Mutation_p.R345C	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				TGTTAATCTCCGTGTTCACCA	0.463000													19	39					0	0	0.204396	0	0
PBOV1	59351	broad.mit.edu	37	6	138539184	138539184	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:138539184G>C	ENST00000527246.2	-	1	443	c.349C>G	c.(349-351)Cta>Gta	p.L117V	KIAA1244_ENST00000251691.4_Intron	NM_021635.2	NP_067648.1	Q9GZY1	PBOV1_HUMAN	prostate and breast cancer overexpressed 1	117						cytoplasm|nucleus				endometrium(1)	1	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00055)|GBM - Glioblastoma multiforme(68;0.000674)		TCCAGACCTAGGGTCTGAGTT	0.388000													9	34					0	0	0.080935	0	0
HDDC3	374659	broad.mit.edu	37	15	91475081	91475081	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:91475081C>A	ENST00000330334.3	-	3	267	c.262G>T	c.(262-264)Gag>Tag	p.E88*	HDDC3_ENST00000559898.1_Nonsense_Mutation_p.E88*|HDDC3_ENST00000394272.3_Nonsense_Mutation_p.E88*|UNC45A_ENST00000394275.2_Intron	NM_198527.2	NP_940929.1	Q8N4P3	MESH1_HUMAN	HD domain containing 3	88	HD.						guanosine-3',5'-bis(diphosphate) 3'-diphosphatase activity|metal ion binding|phosphoric diester hydrolase activity			NS(1)|ovary(1)	2	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TCTGTTACCTCCTCCACCAGG	0.627000											OREG0023475	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	13	75					1.05317e-09	1.20805e-09	0.119110	1	0
SPTBN1	6711	broad.mit.edu	37	2	54883084	54883084	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:54883084A>T	ENST00000333896.5	+	28	6341	c.5956A>T	c.(5956-5958)Agg>Tgg	p.R1986W	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1999W	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1999	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GACGGAAAAGAGGAAAGAAAT	0.413000													5	40					0	0	0.038147	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21033839	21033839	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:21033839C>T	ENST00000381545.3	+	12	1601	c.1382C>T	c.(1381-1383)tCa>tTa	p.S461L	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.S461L|LST3_ENST00000540229.1_Missense_Mutation_p.S461L|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.S461L|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	461	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TATTGCAACTCAGAGTGCAAT	0.373000													20	94					0	0	0.083992	0	0
ADCY8	114	broad.mit.edu	37	8	131848566	131848566	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:131848566C>T	ENST00000286355.5	-	12	4724	c.2632G>A	c.(2632-2634)Gca>Aca	p.A878T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A747T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	878					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAGAGGCCTGCGTAGACGGTC	0.542000										HNSCC(32;0.087)			22	163					0	0	0.083992	0	0
PTPRR	5801	broad.mit.edu	37	12	71286462	71286462	+	Silent	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:71286462C>A	ENST00000283228.2	-	2	806	c.354G>T	c.(352-354)gtG>gtT	p.V118V		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	118					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACTTACCACCACAATTACAT	0.408000													19	119					3.5997e-14	4.20639e-14	0.069288	1	0
MORF4L2	9643	broad.mit.edu	37	X	102931203	102931203	+	Silent	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:102931203T>C	ENST00000423833.2	-	3	1978	c.753A>G	c.(751-753)ttA>ttG	p.L251L	MORF4L2_ENST00000422154.2_Silent_p.L251L|MORF4L2_ENST00000451301.1_Silent_p.L251L|MORF4L2_ENST00000360458.1_Silent_p.L251L|MORF4L2_ENST00000441076.2_Silent_p.L251L|MORF4L2_ENST00000433176.2_Silent_p.L251L			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	251					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						AGCCCAACAATAATGCAAGGC	0.423000													4	32					0	0	0.150653	0	0
ADAMTS15	170689	broad.mit.edu	37	11	130341218	130341218	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:130341218G>C	ENST00000299164.2	+	7	2018	c.2018G>C	c.(2017-2019)gGg>gCg	p.G673A		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	673	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GACAAGTGTGGGGTGTGTGGG	0.567000													9	78					0	0	0.058154	0	0
RNF126	55658	broad.mit.edu	37	19	648951	648951	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:648951C>A	ENST00000292363.5	-	7	756	c.601G>T	c.(601-603)Ggc>Tgc	p.G201C		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	201							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		GGTGGGGGGCCTGTGTTTTCA	0.622000													4	13					0.000602214	0.000641266	0.184627	1	0
ACTN2	88	broad.mit.edu	37	1	236907968	236907968	+	Missense_Mutation	SNP	C	C	T	rs143749154	byFrequency	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:236907968C>T	ENST00000366578.4	+	12	1464	c.1298C>T	c.(1297-1299)tCg>tTg	p.S433L	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.S433L	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	433					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GAGTCGGCGTCGCTGACAGAG	0.602000													38	22					0	0	0.104719	0	0
ARL16	339231	broad.mit.edu	37	17	79650829	79650829	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:79650829C>G	ENST00000397498.4	-	1	125	c.27G>C	c.(25-27)ttG>ttC	p.L9F		NM_001040025.1	NP_001035114.1	Q0P5N6	ARL16_HUMAN	ADP-ribosylation factor-like 16	9							GTP binding			central_nervous_system(1)|endometrium(1)|lung(4)|skin(1)	7	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			CGCCGCGGCTCAAGGCCCGCC	0.637000													4	28					0	0	0.150653	0	0
KRTAP10-7	386675	broad.mit.edu	37	21	46021232	46021232	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:46021232C>G	ENST00000380102.2	+	1	736	c.711C>G	c.(709-711)gtC>gtG	p.V237V	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	237	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GTGTGCCTGTCTGCTGCAAGC	0.652000													34	345					0	0	0.139131	0	0
USP48	84196	broad.mit.edu	37	1	22074693	22074693	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:22074693C>G	ENST00000308271.9	-	7	1494	c.846G>C	c.(844-846)aaG>aaC	p.K282N	USP48_ENST00000421625.2_Missense_Mutation_p.K282N|USP48_ENST00000529637.1_Missense_Mutation_p.K282N|USP48_ENST00000400301.1_Missense_Mutation_p.K282N	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	282					ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GAAGTCGAATCTTTCTTGTTG	0.348000													4	25					0	0	0.150653	0	0
MBD3	53615	broad.mit.edu	37	19	1584563	1584563	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:1584563C>T	ENST00000590550.2	-	2	589	c.216G>A	c.(214-216)caG>caA	p.Q72Q	MBD3_ENST00000585967.1_5'UTR|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000156825.1_Silent_p.Q128Q|MBD3_ENST00000434436.3_Silent_p.Q128Q|MBD3_ENST00000592012.1_Silent_p.Q96Q			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	128	MBD.				transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACCGCCTTCTGCGGGTCGC	0.632000													25	89					0	0	0.099896	0	0
MAVS	57506	broad.mit.edu	37	20	3846784	3846784	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:3846784G>A	ENST00000428216.2	+	7	1741	c.1613G>A	c.(1612-1614)cGt>cAt	p.R538H	MAVS_ENST00000416600.2_Missense_Mutation_p.R397H|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	538					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TACCGGCGGCGTCTGCACTAG	0.637000													9	48					0	0	0.093190	0	0
MYH10	4628	broad.mit.edu	37	17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:8397110C>G	ENST00000360416.3	-	32	4288	c.4150G>C	c.(4150-4152)Gag>Cag	p.E1384Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587000													3	49					0	0	0.150653	0	0
IQSEC2	23096	broad.mit.edu	37	X	53270978	53270978	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:53270978A>T	ENST00000396435.3	-	10	3203	c.3003T>A	c.(3001-3003)aaT>aaA	p.N1001K	IQSEC2_ENST00000375365.2_Missense_Mutation_p.N796K|IQSEC2_ENST00000375368.5_Missense_Mutation_p.N991K	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	991	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CAAGGAGATCATTGAAGAGGA	0.557000													9	29					0	0	0.069234	0	0
MFN1	55669	broad.mit.edu	37	3	179109794	179109794	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:179109794G>C	ENST00000471841.1	+	18	2299	c.2173G>C	c.(2173-2175)Gag>Cag	p.E725Q	MFN1_ENST00000280653.7_Missense_Mutation_p.E614Q|MFN1_ENST00000263969.5_Missense_Mutation_p.E725Q	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	725					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			ACTTGAAAATGAGCTGGAGAA	0.313000													3	48					0	0	0.115264	0	0
LILRA1	11024	broad.mit.edu	37	19	55106715	55106715	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55106715C>G	ENST00000453777.1	+	5	679	c.509C>G	c.(508-510)tCa>tGa	p.S170*	LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Nonsense_Mutation_p.S170*	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	170	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			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)		TGCCTGAACTCACAGCCCCGT	0.567000													36	208					0	0	0.104719	0	0
PDE10A	10846	broad.mit.edu	37	6	165746546	165746546	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:165746546C>T	ENST00000366882.1	-	23	2462	c.2308G>A	c.(2308-2310)Gtg>Atg	p.V770M	PDE10A_ENST00000354448.4_Missense_Mutation_p.V770M|PDE10A_ENST00000539869.2_Missense_Mutation_p.V780M			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	770					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCTGAGCCACGGATGGGGAT	0.498000													21	113					0	0	0.099896	0	0
FARSA	2193	broad.mit.edu	37	19	13035066	13035066	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:13035066C>G	ENST00000588025.1	-	13	1547	c.1407G>C	c.(1405-1407)tgG>tgC	p.W469C	FARSA_ENST00000314606.4_Missense_Mutation_p.W429C|FARSA_ENST00000423140.2_Missense_Mutation_p.W398C			Q9Y285	SYFA_HUMAN	phenylalanyl-tRNA synthetase, alpha subunit	429					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CGACCTCCACCCACTTCTTCA	0.607000													20	88					0	0	0.062417	0	0
NFYA	4800	broad.mit.edu	37	6	41051837	41051837	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:41051837C>T	ENST00000341376.6	+	4	416	c.215C>T	c.(214-216)tCa>tTa	p.S72L	NFYA_ENST00000353205.5_Missense_Mutation_p.S43L|OARD1_ENST00000480585.1_Intron	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha	72	Gln-rich.				transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTAATCACATCAACTGGCCAA	0.453000													10	58					0	0	0.080935	0	0
PADI2	11240	broad.mit.edu	37	1	17395694	17395694	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:17395694C>T	ENST00000375486.4	-	16	1906	c.1843G>A	c.(1843-1845)Gag>Aag	p.E615K	PADI2_ENST00000466151.1_5'UTR|PADI2_ENST00000444885.2_Missense_Mutation_p.E499K	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	615					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	ACGTGCATCTCCAGGCAGCAT	0.592000													7	98					0	0	0.080935	0	0
ZAP70	7535	broad.mit.edu	37	2	98340715	98340715	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:98340715C>T	ENST00000264972.5	+	3	431	c.216C>T	c.(214-216)gcC>gcT	p.A72A		NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	72	SH2 1.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACGCCATTGCCGGCGGCAAAG	0.677000													3	34					0	0	0.115264	0	0
DIDO1	11083	broad.mit.edu	37	20	61513532	61513532	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:61513532C>A	ENST00000266070.4	-	16	4101	c.3776G>T	c.(3775-3777)gGg>gTg	p.G1259V	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1259V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1259	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGGCGGCGACCCAGGAGGTGT	0.622000													66	262					3.13743e-37	3.76492e-37	0.139131	1	0
HMGA2	8091	broad.mit.edu	37	12	66357034	66357034	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:66357034G>A	ENST00000403681.2	+	5	1432	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K		NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2	98					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		GGAGGAAACTGAAGAGACATC	0.512000			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""								12	39					0	0	0.132662	0	0
PITPNM1	9600	broad.mit.edu	37	11	67267792	67267792	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:67267792C>G	ENST00000356404.3	-	6	966	c.741G>C	c.(739-741)gaG>gaC	p.E247D	PITPNM1_ENST00000534749.1_Missense_Mutation_p.E247D|PITPNM1_ENST00000436757.2_Missense_Mutation_p.E247D	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	247					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGCGAGCAGTCTCCTCTTCCA	0.682000													57	260					0	0	0.139131	0	0
IGHA1	3493	broad.mit.edu	37	14	106174360	106174360	+	RNA	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:106174360C>G	ENST00000390547.2	-	0	428																											ACGTGAGGTTCGCTTCTGAAC	0.612000													3	13					0	0	0.184627	0	0
TTC39A	22996	broad.mit.edu	37	1	51761767	51761767	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:51761767C>T	ENST00000447632.2	-	13	1285	c.1237G>A	c.(1237-1239)Gaa>Aaa	p.E413K	TTC39A_ENST00000451380.1_Missense_Mutation_p.E377K|TTC39A_ENST00000371747.3_Missense_Mutation_p.E412K|TTC39A_ENST00000413473.2_Missense_Mutation_p.E381K|TTC39A_ENST00000534098.1_Intron|TTC39A_ENST00000530004.1_Missense_Mutation_p.E21K|TTC39A_ENST00000371750.5_Missense_Mutation_p.E378K|TTC39A_ENST00000262675.7_Missense_Mutation_p.E350K			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	413							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						AATTCCACTTCGTCGTCCCCG	0.592000													10	4					0	0	0.105934	0	0
ARMC12	221481	broad.mit.edu	37	6	35716570	35716570	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:35716570C>G	ENST00000373866.3	+	6	968	c.946C>G	c.(946-948)Ctg>Gtg	p.L316V	ARMC12_ENST00000373869.3_Missense_Mutation_p.L306V|ARMC12_ENST00000288065.2_Missense_Mutation_p.L343V			Q5T9G4	CF081_HUMAN	armadillo repeat containing 12	316							binding										CATTGTCAGCCTGCAGTATCC	0.532000													30	85					0	0	0.163468	0	0
SEMA3D	223117	broad.mit.edu	37	7	84671545	84671545	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:84671545G>C	ENST00000284136.6	-	8	961	c.918C>G	c.(916-918)gcC>gcG	p.A306A		NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	306	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AAATCAGTCTGGCCTTAAGAA	0.383000													65	81					0	0	0.139131	0	0
DCAF6	55827	broad.mit.edu	37	1	167973115	167973115	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:167973115G>C	ENST00000367840.3	+	9	1099	c.1005G>C	c.(1003-1005)caG>caC	p.Q335H	DCAF6_ENST00000432587.2_Missense_Mutation_p.Q304H|DCAF6_ENST00000367843.3_Missense_Mutation_p.Q335H|DCAF6_ENST00000312263.6_Missense_Mutation_p.Q335H	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	335					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						TAGGAGAGCAGAGTCCCAATG	0.353000													3	111					0	0	0.150653	0	0
YAE1D1	57002	broad.mit.edu	37	7	39612143	39612143	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:39612143G>C	ENST00000223273.2	+	3	562	c.519G>C	c.(517-519)aaG>aaC	p.K173N	YAE1D1_ENST00000432096.2_Intron	NM_020192.3	NP_064577.1	Q9NRH1	CG036_HUMAN	Yae1 domain containing 1	173																	ACTGTAGCAAGAGCCATAGTG	0.393000													13	100					0	0	0.119110	0	0
HEPH	9843	broad.mit.edu	37	X	65476064	65476064	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chrX:65476064G>A	ENST00000519389.1	+	17	3129	c.2950G>A	c.(2950-2952)Gaa>Aaa	p.E984K	HEPH_ENST00000343002.2_Missense_Mutation_p.E930K|HEPH_ENST00000441993.2_Missense_Mutation_p.E933K|HEPH_ENST00000374727.3_Missense_Mutation_p.E933K|HEPH_ENST00000419594.1_Missense_Mutation_p.E741K|HEPH_ENST00000336279.5_Missense_Mutation_p.E663K			Q9BQS7	HEPH_HUMAN	hephaestin	930	Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GATTTTTGATGAAAATAAGTC	0.473000													13	25					0	0	0.105934	0	0
BAGE2	85319	broad.mit.edu	37	21	11039406	11039406	+	RNA	SNP	T	T	C	rs8134740	by1000genomes	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:11039406T>C	ENST00000470054.1	-	0	797									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTAGAAATCTGTTTTTCC	0.299000													5	103					0	0	0.184627	0	0
GLE1	2733	broad.mit.edu	37	9	131286012	131286012	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:131286012C>A	ENST00000309971.4	+	6	890	c.784C>A	c.(784-786)Ctg>Atg	p.L262M	GLE1_ENST00000494417.1_3'UTR|GLE1_ENST00000539582.1_Missense_Mutation_p.L8M|GLE1_ENST00000372770.4_Missense_Mutation_p.L262M	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	262					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						CAGCCAGCAGCTGGATGCCTC	0.612000													8	35					1.12685e-05	1.22075e-05	0.047766	1	0
VIT	5212	broad.mit.edu	37	2	37035743	37035743	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:37035743G>C	ENST00000379242.3	+	15	1820	c.1518G>C	c.(1516-1518)ttG>ttC	p.L506F	VIT_ENST00000401530.1_Missense_Mutation_p.L470F|VIT_ENST00000404084.1_Missense_Mutation_p.L443F|VIT_ENST00000497382.1_Missense_Mutation_p.L160F|VIT_ENST00000379241.3_Missense_Mutation_p.L469F|VIT_ENST00000389975.3_Missense_Mutation_p.L491F	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	491	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				AGACCTGCTTGAACTCGGCTG	0.612000													20	136					0	0	0.091800	0	0
ZNF385D	79750	broad.mit.edu	37	3	21552474	21552474	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:21552474C>G	ENST00000281523.2	-	4	836	c.318G>C	c.(316-318)aaG>aaC	p.K106N	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	106						nucleus	nucleic acid binding|zinc ion binding	p.K106N(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTGAGCTTCTTGGCATGTT	0.458000													10	37					0	0	0.093190	0	0
ZNF750	79755	broad.mit.edu	37	17	80789199	80789199	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:80789199C>T	ENST00000269394.3	-	2	1965	c.1132G>A	c.(1132-1134)Gaa>Aaa	p.E378K	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_5'UTR	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	378						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATTGGACTTTCGAACTCGACG	0.572000													22	108					0	0	0.108266	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140723652	140723652	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:140723652G>A	ENST00000253812.6	+	1	52	c.52G>A	c.(52-54)Gcg>Acg	p.A18T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGTGCGCGCTCCTGGG	0.537000											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	227					0	0	0.029380	0	0
TBX5	6910	broad.mit.edu	37	12	114836395	114836395	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:114836395G>A	ENST00000310346.4	-	5	1159	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	TBX5_ENST00000349716.5_Silent_p.L115L|TBX5_ENST00000405440.2_Silent_p.L165L|TBX5_ENST00000552726.1_5'UTR|TBX5_ENST00000526441.1_Silent_p.L165L	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	165					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		AATGGGTCCAGGTGGTTGTTG	0.602000													5	30					0	0	0.184627	0	0
PELP1	27043	broad.mit.edu	37	17	4578480	4578480	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:4578480G>A	ENST00000301396.4	-	11	1825	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	PELP1_ENST00000436683.2_Missense_Mutation_p.R243W|PELP1_ENST00000572293.1_Missense_Mutation_p.R440W|PELP1_ENST00000269230.7_Missense_Mutation_p.R388W|PELP1_ENST00000574876.1_Missense_Mutation_p.R390W			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	390					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						CGCAAGAGCCGGCTTCCACAC	0.612000													3	20					0	0	0.115264	0	0
TMEM225	338661	broad.mit.edu	37	11	123753889	123753889	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:123753889G>C	ENST00000375026.2	-	4	850	c.634C>G	c.(634-636)Cta>Gta	p.L212V		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	212						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTTTTGTTTAGGGAATTCACA	0.408000													15	72					0	0	0.146539	0	0
ZDHHC4	55146	broad.mit.edu	37	7	6624725	6624725	+	Missense_Mutation	SNP	G	G	C	rs141408179		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:6624725G>C	ENST00000396706.2	+	7	1018	c.575G>C	c.(574-576)aGg>aCg	p.R192T	ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R192T|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R192T|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R192T|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R192T|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R192T			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	192						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGAACATCAGGTACTTCCTC	0.537000													12	61					0	0	0.132662	0	0
ZCCHC3	85364	broad.mit.edu	37	20	278815	278815	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:278815G>C	ENST00000382352.3	+	1	1079	c.588G>C	c.(586-588)atG>atC	p.M196I		NM_033089.6	NP_149080	Q9NUD5	ZCHC3_HUMAN	zinc finger, CCHC domain containing 3	196							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(2)	8		all_cancers(10;0.000209)|Lung NSC(37;0.0417)|all_lung(30;0.0713)|all_epithelial(17;0.0748)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CCATCGGCATGGACCCGAGCG	0.647000													7	43					0	0	0.047766	0	0
GRIA2	2891	broad.mit.edu	37	4	158281083	158281083	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:158281083C>T	ENST00000296526.7	+	13	2404	c.2079C>T	c.(2077-2079)acC>acT	p.T693T	GRIA2_ENST00000393815.2_Silent_p.T646T|GRIA2_ENST00000507898.1_Silent_p.T646T|GRIA2_ENST00000264426.9_Silent_p.T693T|GRIA2_ENST00000449365.1_Silent_p.T646T	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	693					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|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			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	AAATGTGGACCTACATGCGGA	0.468000													7	17					0	0	0.029380	0	0
ATP2A1	487	broad.mit.edu	37	16	28914646	28914646	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:28914646G>A	ENST00000395503.4	+	21	3049	c.2865G>A	c.(2863-2865)atG>atA	p.M955I	ATP2A1_ENST00000357084.3_Missense_Mutation_p.M955I|ATP2A1_ENST00000536376.1_Missense_Mutation_p.M830I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	955					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGCCCCAGATGATCTTCAAGC	0.637000													17	259					0	0	0.204396	0	0
XIRP1	165904	broad.mit.edu	37	3	39225689	39225689	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:39225689G>A	ENST00000340369.3	-	2	5476	c.5248C>T	c.(5248-5250)Ctg>Ttg	p.L1750L	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.L433L	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1750	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGTAGCTCCAGAACACTCTTT	0.562000													35	166					0	0	0.092188	0	0
ZSCAN25	221785	broad.mit.edu	37	7	99227062	99227062	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99227062G>T	ENST00000394152.2	+	8	1381	c.1054G>T	c.(1054-1056)Gag>Tag	p.E352*	ZSCAN25_ENST00000334715.3_Nonsense_Mutation_p.E352*|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Nonsense_Mutation_p.E280*	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25																		CCAGTGCCCTGAGTGTGGGAA	0.587000													13	44					1.5842e-08	1.78437e-08	0.105934	1	0
UGT1A9	54600	broad.mit.edu	37	2	234581244	234581244	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234581244C>T	ENST00000354728.4	+	1	746	c.664C>T	c.(664-666)Cgt>Tgt	p.R222C	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Missense_Mutation_p.R222C														p.R222S(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		ATTATGCCACCGTTTTTTCAA	0.428000													52	132					0	0	0.139131	0	0
SLC4A4	8671	broad.mit.edu	37	4	72412136	72412136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:72412136C>T	ENST00000340595.3	+	16	2576	c.2380C>T	c.(2380-2382)Ctt>Ttt	p.L794F	SLC4A4_ENST00000264485.5_Missense_Mutation_p.L838F|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L838F|SLC4A4_ENST00000351898.6_Intron	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	838						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.L794F(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CCTCATGGCTCTTCCGTGGTA	0.463000													17	104					0	0	0.069288	0	0
SPTAN1	6709	broad.mit.edu	37	9	131387392	131387392	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:131387392G>A	ENST00000358161.5	+	47	6116	c.6003G>A	c.(6001-6003)gaG>gaA	p.E2001E	SPTAN1_ENST00000372731.4_Silent_p.E1996E|SPTAN1_ENST00000372739.3_Silent_p.E2001E			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1996					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTGAAAAGGAGAACAGCTTGA	0.448000													7	48					0	0	0.047766	0	0
ZHX2	22882	broad.mit.edu	37	8	123963985	123963985	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:123963985G>C	ENST00000314393.4	+	3	1070	c.235G>C	c.(235-237)Gag>Cag	p.E79Q		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	79						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGGTGGTTATGAGTGCAAATA	0.483000													7	94					0	0	0.058154	0	0
PNPLA7	375775	broad.mit.edu	37	9	140354928	140354928	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:140354928C>A	ENST00000406427.1	-	35	4282	c.3946G>T	c.(3946-3948)Gag>Tag	p.E1316*	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000277531.4_Splice_Site_p.E1291*|PNPLA7_ENST00000371457.1_Splice_Site_p.E897*	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1291					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GACTCGTCCTCCTGCAAGCAG	0.637000													25	28					3.65163e-15	4.29928e-15	0.116897	1	0
CYP2A7	1549	broad.mit.edu	37	19	41386396	41386396	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:41386396G>T	ENST00000301146.4	-	3	1022	c.481C>A	c.(481-483)Cgg>Agg	p.R161R	CYP2A7_ENST00000291764.3_Silent_p.R110R|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	161						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGCGTGCTCCGGATGGCCTCG	0.662000													29	173					1.836e-18	2.17807e-18	0.193644	1	0
CCDC8	83987	broad.mit.edu	37	19	46914959	46914959	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:46914959T>C	ENST00000307522.3	-	1	1882	c.1109A>G	c.(1108-1110)gAg>gGg	p.E370G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	370						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		AGCTGGGGCCTCTGCCCTCTG	0.607000													5	227					0	0	0.047766	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857978	149857978	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:149857978G>C	ENST00000369155.2	-	1	254	c.213C>G	c.(211-213)ttC>ttG	p.F71L		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	71					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.F71L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CGATGCGCTCGAAGATGTCGT	0.622000													152	138					0	0	0.139131	0	0
ERBB2IP	55914	broad.mit.edu	37	5	65290597	65290597	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:65290597T>C	ENST00000284037.5	+	4	601	c.212T>C	c.(211-213)tTa>tCa	p.L71S	ERBB2IP_ENST00000380936.1_Missense_Mutation_p.L71S|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.L71S|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.L71S|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.L71S|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.L71S|ERBB2IP_ENST00000416865.2_Missense_Mutation_p.L71S|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.L71S|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.L71S|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.L71S	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	71					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		TGTCAGTCTTTACACAAACTG	0.333000													5	7					0	0	0.184627	0	0
PTCD1	26024	broad.mit.edu	37	7	99022928	99022928	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99022928C>G	ENST00000292478.4	-	6	1477	c.1227G>C	c.(1225-1227)aaG>aaC	p.K409N	PTCD1_ENST00000555673.1_Missense_Mutation_p.K458N|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.K458N	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGGTTGGGCCTTGCCGGGCA	0.637000													32	107					0	0	0.092188	0	0
GNPTAB	79158	broad.mit.edu	37	12	102158444	102158444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:102158444G>A	ENST00000299314.7	-	13	2513	c.2251C>T	c.(2251-2253)Caa>Taa	p.Q751*		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	751					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ATTATAGCTTGATTTTTTATT	0.383000													5	26					0	0	0.184627	0	0
TP53	7157	broad.mit.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GATGGGCCTCCGGTTCATGCC	0.572000	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			52	40					0	0	0.139131	0	0
SH3YL1	26751	broad.mit.edu	37	2	234213	234213	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:234213G>C	ENST00000403657.1	-	8	2258	c.63C>G	c.(61-63)ggC>ggG	p.G21G	SH3YL1_ENST00000405430.1_Silent_p.G117G|SH3YL1_ENST00000403658.1_Silent_p.G21G|SH3YL1_ENST00000415006.2_Silent_p.G21G|SH3YL1_ENST00000403712.2_Silent_p.G117G|SH3YL1_ENST00000356150.5_Silent_p.G117G|SH3YL1_ENST00000468321.1_5'UTR			Q96HL8	SH3Y1_HUMAN	SH3 and SYLF domain containing 1	117										large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.034)		all cancers(51;0.000647)|Epithelial(75;0.0043)|OV - Ovarian serous cystadenocarcinoma(76;0.00871)|GBM - Glioblastoma multiforme(21;0.148)		TCAGATTTCCGCCTTTTGCAA	0.418000													15	118					0	0	0.189662	0	0
HK3	3101	broad.mit.edu	37	5	176308338	176308338	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:176308338C>G	ENST00000292432.5	-	18	2683	c.2592G>C	c.(2590-2592)gtG>gtC	p.V864V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	864	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCCACCCCCACAGACACTG	0.682000													33	237					0	0	0.098360	0	0
TAF5	6877	broad.mit.edu	37	10	105128238	105128238	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:105128238G>T	ENST00000369839.3	+	1	515	c.492G>T	c.(490-492)ccG>ccT	p.P164P	TAF5_ENST00000351396.4_Silent_p.P164P	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	164					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		CCGACCCTCCGGGCACTGGCG	0.746000													5	19					0.0215528	0.0224149	0.021553	1	0
CACNA1E	777	broad.mit.edu	37	1	181680116	181680116	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:181680116T>A	ENST00000526775.1	+	8	1247	c.1082T>A	c.(1081-1083)gTg>gAg	p.V361E	CACNA1E_ENST00000358338.5_Missense_Mutation_p.V312E|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V312E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V361E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V361E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V361E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	361					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AGAGAGAGAGTGGAGAACCGA	0.522000													6	195					0	0	0.038147	0	0
PLCH1	23007	broad.mit.edu	37	3	155215191	155215191	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:155215191C>T	ENST00000460012.1	-	15	2079	c.1722G>A	c.(1720-1722)agG>agA	p.R574R	PLCH1_ENST00000340059.7_Silent_p.R592R|PLCH1_ENST00000414191.1_Silent_p.R574R|PLCH1_ENST00000447496.2_Silent_p.R592R|PLCH1_ENST00000494598.1_Silent_p.R592R|PLCH1_ENST00000334686.6_Silent_p.R574R			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	592					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCATGGTTTTCCTTCGGCGAC	0.463000													15	82					0	0	0.175082	0	0
KIAA1109	84162	broad.mit.edu	37	4	123255651	123255651	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:123255651G>C	ENST00000264501.4	+	69	12172	c.11799G>C	c.(11797-11799)caG>caC	p.Q3933H	KIAA1109_ENST00000388738.3_Missense_Mutation_p.Q3933H			Q2LD37	K1109_HUMAN	KIAA1109	3933					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCACTGTCCAGAGCAAGACTA	0.408000													27	100					0	0	0.098360	0	0
PCDH1	5097	broad.mit.edu	37	5	141244926	141244926	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:141244926C>T	ENST00000287008.3	-	3	1117	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	PCDH1_ENST00000394536.3_Missense_Mutation_p.E324K|PCDH1_ENST00000456271.1_Missense_Mutation_p.E312K|PCDH1_ENST00000536585.1_Missense_Mutation_p.E302K|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	324	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CTCACAACTTCGGGCGCCTGG	0.532000													13	77					0	0	0.105934	0	0
ROBO4	54538	broad.mit.edu	37	11	124763844	124763844	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:124763844G>C	ENST00000306534.3	-	9	1901	c.1416C>G	c.(1414-1416)gcC>gcG	p.A472A	ROBO4_ENST00000533054.1_Silent_p.A327A	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	472					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CACCGCAGGTGGCAATGACCT	0.652000													4	25					0	0	0.029380	0	0
PADI4	23569	broad.mit.edu	37	1	17682587	17682587	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:17682587G>A	ENST00000375448.4	+	12	1446	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	PADI4_ENST00000487048.1_3'UTR	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	474					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CCACGTGGACGAGTTCCTGAG	0.632000													8	48					0	0	0.047766	0	0
PABPC1	26986	broad.mit.edu	37	8	101721413	101721413	+	Silent	SNP	A	A	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:101721413A>G	ENST00000318607.5	-	9	2412	c.1284T>C	c.(1282-1284)atT>atC	p.I428I	PABPC1_ENST00000519004.1_Silent_p.I383I|PABPC1_ENST00000519596.1_Intron|PABPC1_ENST00000522387.1_Silent_p.I396I	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	428				I -> V (in Ref. 1; CAA68428).	mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTAGTTGAGCAATTTGGCTAG	0.393000													49	280					0	0	0.139131	0	0
ALDH1A1	216	broad.mit.edu	37	9	75526950	75526950	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:75526950C>G	ENST00000297785.3	-	10	1178	c.1124G>C	c.(1123-1125)tGg>tCg	p.W375S		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	375					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TTTATTCCCCCACGGGCCTCC	0.433000													18	70					0	0	0.062417	0	0
UBR4	23352	broad.mit.edu	37	1	19423752	19423752	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:19423752T>G	ENST00000375267.2	-	91	13328	c.13325A>C	c.(13324-13326)tAt>tCt	p.Y4442S	UBR4_ENST00000467272.2_5'UTR|UBR4_ENST00000375226.2_Missense_Mutation_p.Y4418S|UBR4_ENST00000543981.1_Missense_Mutation_p.Y106S|UBR4_ENST00000429347.2_Missense_Mutation_p.Y5S|UBR4_ENST00000375224.1_Missense_Mutation_p.Y149S|UBR4_ENST00000375254.3_Missense_Mutation_p.Y4442S|UBR4_ENST00000375217.2_Missense_Mutation_p.Y4435S			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4442					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.Y4442S(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CCGCATACGATAAACAATCCT	0.498000													4	51					0	0	0.021553	0	0
COMP	1311	broad.mit.edu	37	19	18902016	18902016	+	Translation_Start_Site	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:18902016C>A	ENST00000542601.2	-	0	98				COMP_ENST00000425807.1_Missense_Mutation_p.Q21H|COMP_ENST00000222271.2_Missense_Mutation_p.Q21H			P49747	COMP_HUMAN	cartilage oligomeric matrix protein						anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GGCTCTGGCCCTGTCCGGACG	0.697000													9	8					7.48243e-07	8.27843e-07	0.058154	1	0
FAM50B	26240	broad.mit.edu	37	6	3850302	3850302	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:3850302G>T	ENST00000380274.1	+	1	683	c.257G>T	c.(256-258)cGg>cTg	p.R86L	FAM50B_ENST00000380272.3_Missense_Mutation_p.R86L			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	86						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GAGCGCGAGCGGCAGCTGGCC	0.701000													14	6					9.31168e-06	1.01228e-05	0.105934	1	0
IGSF9B	22997	broad.mit.edu	37	11	133790010	133790010	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:133790010G>C	ENST00000321016.8	-	18	3840	c.3610C>G	c.(3610-3612)Ctg>Gtg	p.L1204V	IGSF9B_ENST00000533871.2_Missense_Mutation_p.L1204V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1204	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTTTGGGTCAGAGGTGAGAGC	0.711000													28	93					0	0	0.134883	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													3	63					0	0	0.115264	0	0
PPIB	5479	broad.mit.edu	37	15	64454323	64454323	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:64454323C>A	ENST00000300026.3	-	2	384	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	PPIB_ENST00000558492.1_Intron	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	56	PPIase cyclophilin-type.				protein folding	endoplasmic reticulum lumen|melanosome	peptide binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	CGGCCTACATCTTCATCTCCA	0.463000													44	157					1.67211e-32	1.99884e-32	0.139131	1	0
MKL2	57496	broad.mit.edu	37	16	14345773	14345773	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:14345773G>A	ENST00000571589.1	+	14	2630	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	MKL2_ENST00000574045.1_Missense_Mutation_p.A770T|MKL2_ENST00000318282.5_Missense_Mutation_p.A770T|MKL2_ENST00000341243.5_Missense_Mutation_p.A809T	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	809					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGACATCCTGCCCCAGCTGT	0.423000													26	115					0	0	0.144211	0	0
MUC17	140453	broad.mit.edu	37	7	100684992	100684992	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:100684992C>G	ENST00000306151.4	+	3	10359	c.10295C>G	c.(10294-10296)aCt>aGt	p.T3432S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3432	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGGTGACCACTTCTACTGAA	0.488000													4	286					0	0	0.021553	0	0
SETD4	54093	broad.mit.edu	37	21	37408469	37408469	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:37408469C>G	ENST00000399215.1	-	10	2641	c.1269G>C	c.(1267-1269)aaG>aaC	p.K423N	AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000399212.1_Missense_Mutation_p.K399N|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.K423N			Q9NVD3	SETD4_HUMAN	SET domain containing 4	423				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CCCTGAGAATCTTTAGCTCTT	0.443000													38	132					0	0	0.139131	0	0
KIAA0195	9772	broad.mit.edu	37	17	73486837	73486837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:73486837C>T	ENST00000314256.7	+	11	1520	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	KIAA0195_ENST00000579208.1_Nonsense_Mutation_p.Q27*|KIAA0195_ENST00000375248.5_Nonsense_Mutation_p.Q386*	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	376					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGTCTCCTCTCAGGTACAACA	0.557000													12	44					0	0	0.105934	0	0
CTSE	1510	broad.mit.edu	37	1	206318358	206318358	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:206318358G>A	ENST00000361052.3	+	2	234	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	CTSE_ENST00000360218.2_Missense_Mutation_p.R39Q|CTSE_ENST00000432969.2_Intron|CTSE_ENST00000358184.2_Missense_Mutation_p.R39Q			P14091	CATE_HUMAN	cathepsin E	39					antigen processing and presentation of exogenous peptide antigen via MHC class II|digestion|proteolysis	endosome	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			CTGCGGGCACGGAGCCAGCTC	0.557000													13	40					0	0	0.119110	0	0
BHLHE41	79365	broad.mit.edu	37	12	26275715	26275715	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:26275715C>T	ENST00000242728.4	-	5	1080	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K		NM_030762.2	NP_110389.1	Q9C0J9	BHE41_HUMAN	basic helix-loop-helix family, member e41	245					cell differentiation|cell proliferation|organ morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)	5						GCCTCGGCTTCGCCGCCGTAG	0.736000													7	14					0	0	0.047766	0	0
DDN	23109	broad.mit.edu	37	12	49391444	49391444	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:49391444C>G	ENST00000421952.2	-	2	1236	c.1215G>C	c.(1213-1215)tgG>tgC	p.W405C		NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	405	Interaction with ACTN1.					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CTCCGGGAGCCCAGGGTCTGG	0.627000													12	50					0	0	0.119110	0	0
GRAMD3	65983	broad.mit.edu	37	5	125801109	125801109	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:125801109C>G	ENST00000511134.1	+	2	107	c.27C>G	c.(25-27)ttC>ttG	p.F9L	GRAMD3_ENST00000544396.1_Intron|GRAMD3_ENST00000514932.1_3'UTR|GRAMD3_ENST00000515200.1_Intron|GRAMD3_ENST00000543198.1_Intron|RP11-517I3.1_ENST00000515808.1_RNA|RP11-517I3.1_ENST00000512779.1_RNA|GRAMD3_ENST00000502348.1_Intron|GRAMD3_ENST00000285689.3_Intron|GRAMD3_ENST00000542322.1_Intron|GRAMD3_ENST00000513040.1_Intron	NM_001146322.1	NP_001139794.1	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	0										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GGTTTCCTTTCTTCTTCAGCT	0.483000													4	24					0	0	0.150653	0	0
SH3GL1	6455	broad.mit.edu	37	19	4363777	4363777	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:4363777C>G	ENST00000269886.3	-	6	742	c.564G>C	c.(562-564)gaG>gaC	p.E188D	SH3GL1_ENST00000598564.1_Missense_Mutation_p.E124D|SH3GL1_ENST00000417295.2_Missense_Mutation_p.E140D	NM_003025.3	NP_003016.1	Q99961	SH3G1_HUMAN	SH3-domain GRB2-like 1	188	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	lipid binding|protein binding			NS(1)|endometrium(2)|kidney(16)|large_intestine(3)|lung(2)|ovary(2)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0152)|STAD - Stomach adenocarcinoma(1328;0.182)		CCTCGAACTTCTCCAGCGCCT	0.582000			T	MLL	AL								20	85					0	0	0.062417	0	0
PHACTR3	116154	broad.mit.edu	37	20	58322813	58322813	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:58322813C>T	ENST00000371015.1	+	3	748	c.281C>T	c.(280-282)gCg>gTg	p.A94V	PHACTR3_ENST00000395639.4_Splice_Site_p.A53V|PHACTR3_ENST00000361300.4_Splice_Site_p.A53V|PHACTR3_ENST00000359926.3_Splice_Site_p.A91V|PHACTR3_ENST00000355648.4_Splice_Site_p.A53V|PHACTR3_ENST00000395636.2_Splice_Site_p.A53V|PHACTR3_ENST00000541461.1_Splice_Site_p.A53V	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	94						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TGTTGGGCAGCGCTGGAGAAG	0.577000													30	119					0	0	0.153744	0	0
NCAPD2	9918	broad.mit.edu	37	12	6634839	6634839	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:6634839C>G	ENST00000315579.5	+	18	3104	c.2305C>G	c.(2305-2307)Ctg>Gtg	p.L769V	NCAPD2_ENST00000545962.1_Missense_Mutation_p.L724V|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	769					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTGCTGTCCTCTGGAGCGCTG	0.557000													13	21					0	0	0.132662	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55341573	55341573	+	Missense_Mutation	SNP	C	C	G	rs1130473		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55341573C>G	ENST00000391728.4	+	9	1211	c.1178C>G	c.(1177-1179)cCt>cGt	p.P393R	KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.P298R|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.P376R|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.P376R|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.P393R	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GAACAAGACCCTGAGGAGGTG	0.522000													85	410					0	0	0.139131	0	0
DDX20	11218	broad.mit.edu	37	1	112309338	112309338	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:112309338G>A	ENST00000475700.1	+	3	3474	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	DDX20_ENST00000369702.4_Silent_p.L764L			Q9UHI6	DDX20_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 20	764	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding			endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATACGTCTGAGTTTTTCTG	0.453000													9	86					0	0	0.047766	0	0
OR8K3	219473	broad.mit.edu	37	11	56085843	56085843	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:56085843G>A	ENST00000312711.1	+	1	61	c.61G>A	c.(61-63)Gct>Act	p.A21T		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CACAGATATCGCTGAGCTGCA	0.438000													42	102					0	0	0.139131	0	0
DENND4B	9909	broad.mit.edu	37	1	153907309	153907309	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642000													7	120					0	0	0.047766	0	0
QPRT	23475	broad.mit.edu	37	16	29708422	29708422	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:29708422G>A	ENST00000395384.4	+	3	816	c.655G>A	c.(655-657)Gtc>Atc	p.V219I	QPRT_ENST00000562473.1_Missense_Mutation_p.V71I|QPRT_ENST00000219771.7_3'UTR	NM_014298.3	NP_055113.2	Q15274	NADC_HUMAN	quinolinate phosphoribosyltransferase	219					protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process	cytosol	nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9					Niacin(DB00627)	TGCCGACCTTGTCCTGCTGGA	0.642000													6	47					0	0	0.038147	0	0
LAMA3	3909	broad.mit.edu	37	18	21519274	21519274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr18:21519274C>T	ENST00000313654.9	+	68	9191	c.8950C>T	c.(8950-8952)Cat>Tat	p.H2984Y	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Missense_Mutation_p.H1375Y|LAMA3_ENST00000587184.1_Missense_Mutation_p.H1319Y|LAMA3_ENST00000399516.3_Missense_Mutation_p.H2928Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2984					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGCCAATCATGGAGCCCT	0.547000													75	196					0	0	0.139131	0	0
LILRA2	11027	broad.mit.edu	37	19	55086318	55086318	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55086318G>A	ENST00000251377.3	+	5	606	c.473G>A	c.(472-474)gGa>gAa	p.G158E	LILRA2_ENST00000391737.1_Missense_Mutation_p.G146E|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000495786.1_3'UTR|LILRA2_ENST00000391738.3_Missense_Mutation_p.G158E|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.G158E					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TGTAAGGAAGGAGAAGATGAA	0.602000													24	160					0	0	0.091800	0	0
ZNF76	7629	broad.mit.edu	37	6	35262967	35262967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:35262967C>T	ENST00000373953.3	+	14	1921	c.1655C>T	c.(1654-1656)gCg>gTg	p.A552V	ZNF76_ENST00000339411.5_Missense_Mutation_p.A497V|ZNF76_ENST00000440666.2_Missense_Mutation_p.A526V	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	552					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GTGGCCACTGCGGCCATGCAG	0.607000													7	18					0	0	0.047766	0	0
VPS8	23355	broad.mit.edu	37	3	184714261	184714261	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:184714261G>C	ENST00000437079.3	+	44	3979	c.3808G>C	c.(3808-3810)Gaa>Caa	p.E1270Q	VPS8_ENST00000446204.2_Missense_Mutation_p.E1178Q|VPS8_ENST00000436792.2_Missense_Mutation_p.E1268Q|VPS8_ENST00000287546.4_Missense_Mutation_p.E1270Q	NM_001009921.2	NP_001009921.1	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1270							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAGACGCCAAGAAATGGCTGA	0.418000													4	42					0	0	0.150653	0	0
CPT1A	1374	broad.mit.edu	37	11	68525172	68525172	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:68525172C>G	ENST00000265641.5	-	19	2416	c.2262G>C	c.(2260-2262)ctG>ctC	p.L754L	CPT1A_ENST00000540367.1_Intron|CPT1A_ENST00000539743.1_Silent_p.L754L|CPT1A_ENST00000376618.2_Intron	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	754					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TTGCTTCTTTCAGGTGCCTTC	0.398000													9	39					0	0	0.069234	0	0
TTYH3	80727	broad.mit.edu	37	7	2687635	2687635	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:2687635C>G	ENST00000258796.7	+	5	874	c.669C>G	c.(667-669)atC>atG	p.I223M	TTYH3_ENST00000407643.1_Intron|TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000403167.1_Missense_Mutation_p.I52M	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	223						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		ACGTCATCATCTGCCTCCTGG	0.701000													31	158					0	0	0.104719	0	0
PNPLA7	375775	broad.mit.edu	37	9	140437237	140437237	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:140437237C>T	ENST00000406427.1	-	7	859	c.523G>A	c.(523-525)Gag>Aag	p.E175K	PNPLA7_ENST00000277531.4_Missense_Mutation_p.E150K	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	150					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		AGCGGCTTCTCAAAGTGGCCC	0.622000													12	71					0	0	0.160694	0	0
DCAF11	80344	broad.mit.edu	37	14	24584853	24584853	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:24584853C>G	ENST00000446197.3	+	2	777	c.50C>G	c.(49-51)tCc>tGc	p.S17C	DCAF11_ENST00000560171.1_3'UTR|DCAF11_ENST00000396936.1_5'UTR|DCAF11_ENST00000396941.4_Missense_Mutation_p.S17C|DCAF11_ENST00000559115.1_Missense_Mutation_p.S17C	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	17						CUL4 RING ubiquitin ligase complex	protein binding										GGAGACCCCTCCGAGGGCTTG	0.617000													34	70					0	0	0.139131	0	0
AP2A1	160	broad.mit.edu	37	19	50302585	50302585	+	Splice_Site	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:50302585G>C	ENST00000354293.5	+	9	1133	c.967G>C	c.(967-969)Gag>Cag	p.E323Q	AP2A1_ENST00000359032.5_Splice_Site_p.E323Q	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	323					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		TGCTGGCAGTGAGCCCAACCT	0.637000													11	31					0	0	0.119110	0	0
E2F1	1869	broad.mit.edu	37	20	32264765	32264765	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:32264765C>G	ENST00000343380.5	-	7	1226	c.1087G>C	c.(1087-1089)Ggc>Cgc	p.G363R		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	363	Required for interaction with TRIM28.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						CGCAGGCTGCCCATCCGGGAC	0.726000													5	18					0	0	0.038147	0	0
CDC14B	8555	broad.mit.edu	37	9	99327675	99327675	+	Splice_Site	SNP	T	T	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:99327675T>A	ENST00000375241.1	-	2	702	c.251A>T	c.(250-252)aAc>aTc	p.N84I	CDC14B_ENST00000375240.3_Splice_Site_p.N84I|CDC14B_ENST00000375236.1_Splice_Site_p.N84I|CDC14B_ENST00000375242.3_Splice_Site_p.N47I|CDC14B_ENST00000265659.2_Splice_Site_p.N84I|CDC14B_ENST00000463569.1_Splice_Site_p.N84I	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	84	A.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CAATACTTACTTCTCATATTC	0.313000													7	40					0	0	0.038147	0	0
PCED1B	91523	broad.mit.edu	37	12	47629841	47629841	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:47629841G>A	ENST00000546455.1	+	4	1726	c.995G>A	c.(994-996)cGg>cAg	p.R332Q	PCED1B_ENST00000432328.1_Missense_Mutation_p.R332Q					PC-esterase domain containing 1B																		GGAATGCCCCGGTTCCCACAG	0.597000													37	178					0	0	0.139131	0	0
HIPK4	147746	broad.mit.edu	37	19	40895437	40895437	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:40895437C>T	ENST00000291823.2	-	1	657	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	125	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TTGAGCCGGGCCAGGGCTGTG	0.602000													19	92					0	0	0.083992	0	0
FBXL14	144699	broad.mit.edu	37	12	1702939	1702939	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:1702939G>A	ENST00000339235.3	-	1	392	c.294C>T	c.(292-294)agC>agT	p.S98S	WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	98						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			TGTAGCAGCCGCTGAGGTTGA	0.652000													14	75					0	0	0.175082	0	0
TNNT1	7138	broad.mit.edu	37	19	55653248	55653248	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:55653248C>G	ENST00000588981.1	-	7	373	c.169G>C	c.(169-171)Gaa>Caa	p.E57Q	TNNT1_ENST00000356783.5_Missense_Mutation_p.E46Q|TNNT1_ENST00000587465.2_5'UTR|TNNT1_ENST00000588426.1_Intron|TNNT1_ENST00000585321.2_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.E46Q|TNNT1_ENST00000536926.1_Missense_Mutation_p.E46Q|TNNT1_ENST00000291901.8_Missense_Mutation_p.E57Q|TNNT1_ENST00000592920.1_5'UTR	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	57					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CGCTCCCCTTCTGGGATCTTT	0.587000													35	212					0	0	0.124865	0	0
PCNT	5116	broad.mit.edu	37	21	47847581	47847581	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:47847581G>A	ENST00000359568.5	+	34	7473	c.7366G>A	c.(7366-7368)Gtt>Att	p.V2456I	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2456					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCTTCTGCAGGTTGTGCAAGA	0.582000													19	86					0	0	0.204396	0	0
NES	10763	broad.mit.edu	37	1	156640211	156640211	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:156640211C>G	ENST00000368223.3	-	4	3901	c.3769G>C	c.(3769-3771)Ggg>Cgg	p.G1257R		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1257	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTACTTTCCCCAGGGCTTCA	0.642000													27	240					0	0	0.173368	0	0
SLC4A4	8671	broad.mit.edu	37	4	72400084	72400084	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:72400084C>T	ENST00000340595.3	+	15	2485	c.2289C>T	c.(2287-2289)aaC>aaT	p.N763N	SLC4A4_ENST00000264485.5_Silent_p.N807N|SLC4A4_ENST00000425175.1_Silent_p.N807N|SLC4A4_ENST00000351898.6_Silent_p.N807N	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	807	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGATTGTAAACAGGAAAGAAC	0.383000													7	47					0	0	0.038147	0	0
VWA7	80737	broad.mit.edu	37	6	31734367	31734367	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:31734367G>A	ENST00000375686.3	-	14	2294	c.2057C>T	c.(2056-2058)tCg>tTg	p.S686L	VWA7_ENST00000447450.1_Silent_p.L679L|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375688.4_Missense_Mutation_p.S686L	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN	von Willebrand factor A domain containing 7	686						extracellular region											GGGCGACAGCGAGGCTGCGAG	0.692000													3	57					0	0	0.150653	0	0
CRELD1	78987	broad.mit.edu	37	3	9985646	9985646	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:9985646C>T	ENST00000326434.5	+	11	1193	c.1109C>T	c.(1108-1110)tCt>tTt	p.S370F	CRELD1_ENST00000452070.1_Intron|CRELD1_ENST00000397170.3_Intron|CRELD1_ENST00000383811.3_Intron|CRELD1_ENST00000489674.1_Intron	NM_001031717.3	NP_001026887	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	0					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						aagttgggttctcatccccac	0.468000													4	106					0	0	0.021553	0	0
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	by1000genomes	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T														p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358000													5	61					0	0	0.184627	0	0
CXCL16	58191	broad.mit.edu	37	17	4642109	4642109	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:4642109C>G	ENST00000293778.6	-	2	665	c.243G>C	c.(241-243)ctG>ctC	p.L81L	CXCL16_ENST00000574412.1_Silent_p.L81L	NM_022059.2	NP_071342.2	Q9H2A7	CXL16_HUMAN	chemokine (C-X-C motif) ligand 16	62	Chemokine.				lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor	extracellular space|integral to membrane|plasma membrane	chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity			large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						GGTAAGCTCTCAGGTGTTTCC	0.552000													12	43					0	0	0.160694	0	0
RFTN1	23180	broad.mit.edu	37	3	16450896	16450896	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:16450896C>G	ENST00000334133.4	-	4	699	c.427G>C	c.(427-429)Gag>Cag	p.E143Q	RFTN1_ENST00000432519.1_Missense_Mutation_p.E107Q	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	143						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTAATGAACTCTGGGATGAGT	0.473000													10	57					0	0	0.105934	0	0
VSTM2L	128434	broad.mit.edu	37	20	36572409	36572409	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:36572409C>T	ENST00000373459.4	+	2	388	c.148C>T	c.(148-150)Ctc>Ttc	p.L50F	VSTM2L_ENST00000373461.4_Silent_p.I123I|VSTM2L_ENST00000373458.3_Silent_p.I106I			Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	0	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCAGCAACATCTCCCACAAGC	0.652000													5	42					0	0	0.029380	0	0
SETD1A	9739	broad.mit.edu	37	16	30992428	30992428	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:30992428G>T	ENST00000262519.8	+	17	5425	c.4739G>T	c.(4738-4740)tGg>tTg	p.W1580L		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1580	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ATCCACGAGTGGGGTCTGTTT	0.612000													35	227					5.04308e-16	5.96e-16	0.086207	1	0
ALDH1L2	160428	broad.mit.edu	37	12	105440691	105440691	+	Silent	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:105440691C>T	ENST00000258494.9	-	14	1883	c.1743G>A	c.(1741-1743)aaG>aaA	p.K581K	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	581	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GTGGCTCTTTCTTGGTGAAGG	0.393000													35	159					0	0	0.098360	0	0
ZNF737	100129842	broad.mit.edu	37	19	20728275	20728275	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:20728275G>A	ENST00000427401.4	-	4	828	c.734C>T	c.(733-735)aCt>aTt	p.T245I		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	245					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						CTTATGTGCAGTAAGGTATGA	0.403000													3	26					0	0	0.115264	0	0
WDR90	197335	broad.mit.edu	37	16	716521	716521	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:716521G>T	ENST00000549091.1	+	38	4905	c.4813G>T	c.(4813-4815)Gtc>Ttc	p.V1605F	WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547543.1_3'UTR|WDR90_ENST00000293879.4_Missense_Mutation_p.V1603F|WDR90_ENST00000547944.1_Missense_Mutation_p.V202F	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1603										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCGGGTCAGCGTCTGGGCCTC	0.622000													18	51					7.45023e-12	8.6734e-12	0.055883	1	0
ASAP3	55616	broad.mit.edu	37	1	23763473	23763473	+	Silent	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:23763473G>C	ENST00000336689.3	-	15	1451	c.1407C>G	c.(1405-1407)cgC>cgG	p.R469R	ASAP3_ENST00000437606.2_Silent_p.R460R	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	469	Arf-GAP.				regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						CGCCCAGTTCGCGGTGGACGC	0.677000													6	29					0	0	0.038147	0	0
SLC6A20	54716	broad.mit.edu	37	3	45800488	45800488	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:45800488G>A	ENST00000358525.4	-	11	1876	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	SLC6A20_ENST00000353278.4_Silent_p.D550D|SLC6A20_ENST00000456124.2_Intron	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	587					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGGGGTCTGCGTCTCCCCTCT	0.577000													4	53					0	0	0.150653	0	0
STK40	83931	broad.mit.edu	37	1	36807476	36807476	+	Silent	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:36807476C>A	ENST00000373129.3	-	12	1594	c.1188G>T	c.(1186-1188)cgG>cgT	p.R396R	STK40_ENST00000359297.2_3'UTR|STK40_ENST00000373132.3_Silent_p.R396R|STK40_ENST00000373130.3_Silent_p.R401R	NM_032017.1	NP_114406.1	Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	396						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GTACCCAGCTCCGGGCGTCAT	0.652000													9	74					0.0581538	0.0600794	0.058154	1	0
CHRNB3	1142	broad.mit.edu	37	8	42586933	42586933	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:42586933G>T	ENST00000289957.2	+	5	611	c.483G>T	c.(481-483)ccG>ccT	p.P161P		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	161					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTTTTTCCCGTTCGACCGAC	0.488000													3	41					0.00024832	0.00026624	0.150653	1	0
IRGC	56269	broad.mit.edu	37	19	44223733	44223733	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:44223733G>A	ENST00000244314.5	+	2	1222	c.1023G>A	c.(1021-1023)gaG>gaA	p.E341E		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	341						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCTCGCCTGAGACTGTCCTGC	0.677000													10	64					0	0	0.080935	0	0
RNF150	57484	broad.mit.edu	37	4	141888843	141888843	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:141888843G>T	ENST00000515673.2	-	2	702	c.669C>A	c.(667-669)tcC>tcA	p.S223S	RNF150_ENST00000306799.3_Intron|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000507500.1_Silent_p.S223S|RNF150_ENST00000379512.2_Silent_p.S82S|RNF150_ENST00000420921.2_Silent_p.S82S			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GCCATGCGAGGGAAATGATCA	0.423000													17	92					1.99824e-07	2.21868e-07	0.160694	1	0
DNAH2	146754	broad.mit.edu	37	17	7702490	7702490	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:7702490T>C	ENST00000572933.1	+	56	10089	c.8629T>C	c.(8629-8631)Tac>Cac	p.Y2877H	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y2877H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2877	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTCTTCGCCTACCTCATTGA	0.592000													3	68					0	0	0.115264	0	0
SPTLC3	55304	broad.mit.edu	37	20	13074186	13074186	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:13074186G>T	ENST00000399002.2	+	6	1062	c.788G>T	c.(787-789)cGa>cTa	p.R263L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.R263L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	263					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTTGGGGCCCGACTCTCAGGT	0.398000													6	77					1.26484e-09	1.44554e-09	0.038147	1	0
ARID1A	8289	broad.mit.edu	37	1	27107008	27107008	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:27107008C>T	ENST00000324856.7	+	20	6990	c.6619C>T	c.(6619-6621)Cag>Tag	p.Q2207*	ARID1A_ENST00000540690.1_Nonsense_Mutation_p.Q535*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1824*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1990*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2207					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCCGCCACACAGTTCCAGCA	0.642000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								59	65					0	0	0.139131	0	0
EVPL	2125	broad.mit.edu	37	17	74017594	74017594	+	Silent	SNP	A	A	G	rs115673223	by1000genomes	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:74017594A>G	ENST00000301607.3	-	9	1219	c.966T>C	c.(964-966)tgT>tgC	p.C322C	EVPL_ENST00000586740.1_Silent_p.C322C	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	322	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTGGCAGATACACAGGTTCA	0.721000													3	37					0	0	0.184627	0	0
CDH17	1015	broad.mit.edu	37	8	95186397	95186397	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:95186397G>A	ENST00000027335.3	-	6	640	c.516C>T	c.(514-516)ccC>ccT	p.P172P	CDH17_ENST00000450165.2_Silent_p.P172P|CDH17_ENST00000441892.2_Intron	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	172	Cadherin 2.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGTTGATCATGGGAAGCTGGA	0.488000													37	340					0	0	0.086207	0	0
TAOK3	51347	broad.mit.edu	37	12	118590040	118590040	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:118590040C>G	ENST00000392533.3	-	20	3017	c.2527G>C	c.(2527-2529)Gag>Cag	p.E843Q	TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000419821.2_Missense_Mutation_p.E843Q|TAOK3_ENST00000536979.1_Missense_Mutation_p.E38Q|TAOK3_ENST00000537952.1_Missense_Mutation_p.E383Q	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	843					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCTTCTGCTCAAGGTGTGCT	0.542000													8	67					0	0	0.069234	0	0
ITGA7	3679	broad.mit.edu	37	12	56094913	56094913	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:56094913C>G	ENST00000257880.7	-	4	659	c.440G>C	c.(439-441)aGg>aCg	p.R147T	ITGA7_ENST00000347027.6_Missense_Mutation_p.R147T|ITGA7_ENST00000394229.2_Missense_Mutation_p.R147T|ITGA7_ENST00000452168.2_Missense_Mutation_p.R50T|ITGA7_ENST00000257879.6_Missense_Mutation_p.R147T|ITGA7_ENST00000553804.1_Missense_Mutation_p.R147T|ITGA7_ENST00000555728.1_Missense_Mutation_p.R147T|ITGA7_ENST00000394230.2_Missense_Mutation_p.R147T			Q13683	ITA7_HUMAN	integrin, alpha 7	147					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CACTCGCTGCCTTGCCTCATA	0.592000													11	202					0	0	0.119110	0	0
MYH3	4621	broad.mit.edu	37	17	10538231	10538231	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:10538231C>T	ENST00000583535.1	-	31	4369	c.4282G>A	c.(4282-4284)Gat>Aat	p.D1428N	MYH3_ENST00000226209.7_Missense_Mutation_p.D1428N	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1428					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						ACCATCAGATCCTCCACCTCT	0.537000													53	36					0	0	0.139131	0	0
AC015849.16	0	broad.mit.edu	37	17	34234251	34234251	+	RNA	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:34234251C>A	ENST00000587132.1	-	0	3776																											CTTCATGATTCAGTGGAGTTT	0.458000													9	30					5.4927e-09	6.23172e-09	0.047766	1	0
ZSCAN25	221785	broad.mit.edu	37	7	99227017	99227017	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:99227017G>A	ENST00000394152.2	+	8	1336	c.1009G>A	c.(1009-1011)Gaa>Aaa	p.E337K	ZSCAN25_ENST00000334715.3_Missense_Mutation_p.E337K|ZSCAN25_ENST00000466948.1_Intron|ZSCAN25_ENST00000262941.6_Missense_Mutation_p.E265K	NM_145115.2	NP_660090.2			zinc finger and SCAN domain containing 25									p.E337K(1)									CCTGCCTGACGAAGTCAAAAC	0.632000													13	32					0	0	0.132662	0	0
FOXF2	2295	broad.mit.edu	37	6	1390493	1390493	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:1390493C>T	ENST00000259806.1	+	1	425	c.311C>T	c.(310-312)tCg>tTg	p.S104L		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	104					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	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 factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCGCCCTACTCGTACATCGCG	0.716000													6	23					0	0	0.038147	0	0
HERC5	51191	broad.mit.edu	37	4	89385092	89385092	+	Silent	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr4:89385092G>T	ENST00000264350.3	+	6	1020	c.867G>T	c.(865-867)gtG>gtT	p.V289V		NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	289					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CCTGTTTGGTGGCTGAGCTTG	0.413000													15	54					3.41278e-10	3.94366e-10	0.160694	1	0
ARL13B	200894	broad.mit.edu	37	3	93714777	93714777	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:93714777G>T	ENST00000394222.3	+	2	394	c.119G>T	c.(118-120)gGa>gTa	p.G40V	ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.G40V|ARL13B_ENST00000539730.1_5'UTR	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	40							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						ACAGCAAAGGGAATCCAAGGA	0.289000													8	39					0.000978159	0.00103453	0.080935	1	0
BTBD7	55727	broad.mit.edu	37	14	93712182	93712182	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:93712182C>T	ENST00000334746.5	-	10	2879	c.2572G>A	c.(2572-2574)Gag>Aag	p.E858K	BTBD7_ENST00000554565.1_Missense_Mutation_p.E507K|BTBD7_ENST00000393170.2_Missense_Mutation_p.E432K	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	858										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		ACTTGCTTCTCAGAtgctgct	0.532000													14	43					0	0	0.105934	0	0
STOX1	219736	broad.mit.edu	37	10	70645483	70645483	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:70645483G>A	ENST00000298596.6	+	3	2014	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Missense_Mutation_p.R534Q|STOX1_ENST00000399169.4_Missense_Mutation_p.R644Q|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	644						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						CTGCCATCACGAGGTGCCTCC	0.453000													21	73					0	0	0.116897	0	0
LRFN5	145581	broad.mit.edu	37	14	42361055	42361055	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr14:42361055T>C	ENST00000298119.4	+	4	3177	c.1988T>C	c.(1987-1989)gTt>gCt	p.V663A	LRFN5_ENST00000554171.1_Intron|LRFN5_ENST00000554120.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	663						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GTCACAAATGTTGAATCCCAA	0.483000										HNSCC(30;0.082)			11	28					0	0	0.093190	0	0
DHTKD1	55526	broad.mit.edu	37	10	12148334	12148334	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr10:12148334G>T	ENST00000263035.4	+	11	2048	c.1986G>T	c.(1984-1986)gaG>gaT	p.E662D		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	662					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCCTGTGGGAGGCACAGTTTG	0.527000													6	157					0.000157383	0.000169909	0.038147	1	0
PSPH	5723	broad.mit.edu	37	7	56082826	56082826	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:56082826C>T	ENST00000395471.3	-	7	1265	c.460G>A	c.(460-462)Gaa>Aaa	p.E154K	PSPH_ENST00000275605.3_Missense_Mutation_p.E154K|PSPH_ENST00000459834.1_5'UTR			P78330	SERB_HUMAN	phosphoserine phosphatase	154					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCACCAGATTCAGCTGTTGGC	0.363000													7	37					0	0	0.029380	0	0
NUTM1	256646	broad.mit.edu	37	15	34646669	34646669	+	Silent	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr15:34646669C>G	ENST00000537011.1	+	6	1480	c.1098C>G	c.(1096-1098)gcC>gcG	p.A366A	NUTM1_ENST00000438749.3_Silent_p.A356A|NUTM1_ENST00000333756.4_Silent_p.A338A	NM_001284292.1	NP_001271221.1			NUT midline carcinoma, family member 1																		AGAAGGCAGCCTCCAAGACAC	0.557000													19	92					0	0	0.062417	0	0
TNK2	10188	broad.mit.edu	37	3	195610067	195610067	+	Silent	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:195610067G>A	ENST00000333602.6	-	5	1187	c.570C>T	c.(568-570)atC>atT	p.I190I	TNK2_ENST00000468819.1_5'UTR|TNK2_ENST00000428187.1_Silent_p.I222I|TNK2_ENST00000381916.2_Silent_p.I253I|TNK2_ENST00000392400.1_Silent_p.I190I|TNK2_ENST00000316664.3_Silent_p.I190I	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	190	Protein kinase.				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGTAGAGGCGGATGAGGTTTC	0.632000													17	96					0	0	0.204396	0	0
UBAP2	55833	broad.mit.edu	37	9	33941739	33941739	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:33941739T>C	ENST00000379238.1	-	16	1954	c.1837A>G	c.(1837-1839)Atg>Gtg	p.M613V	UBAP2_ENST00000379239.4_Missense_Mutation_p.M346V|UBAP2_ENST00000449054.1_Missense_Mutation_p.M613V|UBAP2_ENST00000360802.1_Missense_Mutation_p.M613V|UBAP2_ENST00000418786.2_Missense_Mutation_p.M560V|UBAP2_ENST00000379225.1_Missense_Mutation_p.M246V|UBAP2_ENST00000539807.1_Missense_Mutation_p.M368V			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	613										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		GAGGAAGACATTGCTACTGGA	0.463000													7	54					0	0	0.029380	0	0
ZNF626	199777	broad.mit.edu	37	19	20828521	20828521	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:20828521C>A	ENST00000601440.1	-	3	341	c.195G>T	c.(193-195)atG>atT	p.M65I	ZNF626_ENST00000291750.6_Missense_Mutation_p.M65I|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	65	KRAB.		M -> T (in dbSNP:rs8106117).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						CATTTCTCTTCATGGTCAAAG	0.388000													4	45					0.00024832	0.00026624	0.150653	1	0
ZNF483	158399	broad.mit.edu	37	9	114296106	114296106	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr9:114296106G>T	ENST00000309235.5	+	4	747	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	ZNF483_ENST00000355824.3_Nonsense_Mutation_p.E197*|ZNF483_ENST00000358151.4_Nonsense_Mutation_p.E197*	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	197	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GCTATATAAGGAAGTGCTACT	0.398000													9	29					0.000673444	0.000714675	0.069234	1	0
ZNFX1	57169	broad.mit.edu	37	20	47866170	47866170	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:47866170G>T	ENST00000396105.1	-	14	3637	c.3391C>A	c.(3391-3393)Cag>Aag	p.Q1131K	ZNFX1_ENST00000371752.1_Missense_Mutation_p.Q1131K|ZNFX1_ENST00000371754.4_Intron	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1131							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCTCATGCTGGTTCTGATGG	0.493000													4	125					2.56e-06	2.81239e-06	0.150653	1	0
ZNF626	199777	broad.mit.edu	37	19	20829085	20829085	+	Splice_Site	SNP	C	C	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr19:20829085C>A	ENST00000601440.1	-	2	276	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	ZNF626_ENST00000291750.6_Splice_Site_p.G44C|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTATCCTCACCAAGGAAGACC	0.333000													13	80					1.05317e-09	1.20805e-09	0.119110	1	0
OR5I1	10798	broad.mit.edu	37	11	55702943	55702943	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:55702943C>G	ENST00000301532.3	-	1	933	c.934G>C	c.(934-936)Gat>Cat	p.D312H		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CATGAAGAATCTACCTTTGAT	0.353000													3	21					0	0	0.115264	0	0
SCNN1D	6339	broad.mit.edu	37	1	1221484	1221484	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:1221484G>A	ENST00000338555.2	+	4	1389	c.245G>A	c.(244-246)cGc>cAc	p.R82H	SCNN1D_ENST00000379116.5_Missense_Mutation_p.R246H|SCNN1D_ENST00000400928.3_Missense_Mutation_p.R82H|SCNN1D_ENST00000325425.8_Missense_Mutation_p.R148H					sodium channel, non-voltage-gated 1, delta subunit											lung(6)|skin(1)	7	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;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGCGGGAACCGCCTCAAGACG	0.692000													4	25					0	0	0.150653	0	0
SSPO	23145	broad.mit.edu	37	7	149489422	149489422	+	RNA	SNP	G	G	A			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:149489422G>A	ENST00000378016.2	+	0	5575							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCTGGGCAGCGAGGGGTGGTG	0.687000													5	9					0	0	0.038147	0	0
UBE3C	9690	broad.mit.edu	37	7	157000422	157000422	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr7:157000422G>C	ENST00000348165.5	+	13	1962	c.1602G>C	c.(1600-1602)atG>atC	p.M534I		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	534					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AATCATCAATGATGCCTTTTA	0.373000													8	46					0	0	0.069234	0	0
CYP11B2	1585	broad.mit.edu	37	8	143993439	143993439	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:143993439C>G	ENST00000323110.2	-	9	1471	c.1469G>C	c.(1468-1470)aGg>aCg	p.R490T		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	490					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CGTGCCAGGCCTCAATATGAA	0.562000									Familial Hyperaldosteronism type I				14	147					0	0	0.175082	0	0
FST	10468	broad.mit.edu	37	5	52780943	52780943	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr5:52780943G>C	ENST00000396947.3	+	5	1004	c.838G>C	c.(838-840)Gat>Cat	p.D280H	FST_ENST00000256759.3_Missense_Mutation_p.D280H	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	280	Kazal-like 3.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				CAGTAAGTCGGATGAGCCTGT	0.522000													31	60					0	0	0.183431	0	0
RGS22	26166	broad.mit.edu	37	8	101078419	101078419	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr8:101078419A>C	ENST00000360863.6	-	7	894	c.700T>G	c.(700-702)Tca>Gca	p.S234A	RGS22_ENST00000523287.1_Missense_Mutation_p.S53A|RGS22_ENST00000523437.1_Missense_Mutation_p.S222A	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	234					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATAGCTGGTGATTTAAGTTTG	0.338000													10	92					0	0	0.080935	0	0
ITPKB	3707	broad.mit.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs11278152		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000429204.1	-	2	603_611	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_ENST00000272117.3_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746													3	5	---	---	---	---					
AC010745.2	0	broad.mit.edu	37	2	16409482	16409483	+	RNA	INS	-	-	C	rs142105920	by1000genomes	TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:16409482_16409483insC	ENST00000420404.1	+	0	289																											TCCTTCCTGGGaccccgccccg	0.604													8	1	---	---	---	---					
LINC01107	151171	broad.mit.edu	37	2	239429286	239429288	+	RNA	DEL	TGG	TGG	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr2:239429286_239429288delTGG	ENST00000446979.1	-	0	718					NR_037809.1																						gtagtggtgatggtggttgtgat	0.478													2	4	---	---	---	---					
HHATL	57467	broad.mit.edu	37	3	42740315	42740317	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr3:42740315_42740317delAGC	ENST00000441594.1	-	5	627_629	c.366_368delGCT	c.(364-369)ctgctt>ctt	p.122_123LL>L	HHATL_ENST00000310417.5_In_Frame_Del_p.122_123LL>L	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	122					negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		ACAGTGACCAAGCAGCAGCAGCA	0.621													7	139	---	---	---	---					
OR2B3	442184	broad.mit.edu	37	6	29054200	29054200	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr6:29054200delG	ENST00000377173.2	-	1	890	c.826delC	c.(826-828)ctcfs	p.L276fs		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						CCATAGAAGAGGGAAACCATC	0.433													7	35	---	---	---	---					
SF1	7536	broad.mit.edu	37	11	64533611	64533631	+	Splice_Site	DEL	GGTGGTAGTCGTCGTATCTGG	GGTGGTAGTCGTCGTATCTGG	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr11:64533611_64533631delGGTGGTAGTCGTCGTATCTGG	ENST00000377390.3	-	13	1920_1936	c.1583_1599delCCAGATACGACGACTACCACC	c.(1582-1599)accagatacgacgactac>a	p.TRYDDY528del	SF1_ENST00000422298.2_Intron|SF1_ENST00000377387.1_Intron|SF1_ENST00000433274.2_Splice_Site_p.TRYDDY502del|SF1_ENST00000377394.3_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000334944.5_Splice_Site_p.TRYDDY528del	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	528	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CAGCGCTCGTGGTGGTAGTCGTCGTATCTGGGGTGGTAAAG	0.670													11	62	---	---	---	---					
DUSP6	1848	broad.mit.edu	37	12	89743323	89743341	+	Splice_Site	DEL	TTGCCCCGGGCTTCATCTG	TTGCCCCGGGCTTCATCTG	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr12:89743323_89743341delTTGCCCCGGGCTTCATCTG	ENST00000279488.7	-	3	2070_2085	c.839_854delCAGATGAAGCCCGGGGCAA	c.(838-855)gcagatgaagcccggggc>gc	p.ADEARG280fs	DUSP6_ENST00000547291.1_Splice_Site_p.ADEARG155fs|DUSP6_ENST00000308385.6_Splice_Site_p.ADEARG134fs|DUSP6_ENST00000547140.1_5'UTR	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	280	Tyrosine-protein phosphatase.				dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|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	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						ACCACAGTTCTTGCCCCGGGCTTCATCTGTGAACACAAA	0.425													14	59	---	---	---	---					
SNX29P2	440352	broad.mit.edu	37	16	29320316	29320330	+	RNA	DEL	CCTCTGCCCGTGCTC	CCTCTGCCCGTGCTC	-	rs140092612		TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr16:29320316_29320330delCCTCTGCCCGTGCTC	ENST00000398878.3	+	0	316																											CTGCCTGTGTCCTCTGCCCGTGctccctctgccca	0.660													2	4	---	---	---	---					
SNORD3A	780851	broad.mit.edu	37	17	19091455	19091463	+	RNA	DEL	GCGTTGCTT	GCGTTGCTT	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr17:19091455_19091463delGCGTTGCTT	ENST00000365494.1	+	0	127_135																											cggctttctggcgttgcttggctgcaact	0.507													23	597	---	---	---	---					
PCMTD2	55251	broad.mit.edu	37	20	62895852	62895854	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr20:62895852_62895854delCTT	ENST00000308824.6	+	3	505_507	c.378_380delCTT	c.(376-381)gacttc>gac	p.F128del	PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000369758.4_In_Frame_Del_p.F128del|PCMTD2_ENST00000299468.7_In_Frame_Del_p.F128del	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	128						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAAACTGGACTTCTTCATCAGA	0.355													8	74	---	---	---	---					
BAGE2	85319	broad.mit.edu	37	21	11085940	11085942	+	RNA	DEL	CAC	CAC	-			TCGA-DK-A3IK-01A-32D-A21A-08	TCGA-DK-A3IK-10A-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f730e341-8102-4405-95e2-46a3455a35cc	afd71eba-ed7c-408d-94eb-8e606faafc73	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532													7	49	---	---	---	---